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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Craniofacial Abnormalities
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Accession:DOID:9008731 term browser browse the term
Definition:Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
Synonyms:exact_synonym: Craniofacial Abnormality
 xref: MESH:D019465


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Craniofacial Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:22366783 NCBI chr12:16,776,664...16,779,634
Ensembl chr12:16,776,661...16,780,242 		JBrowse link
G Actg1 actin, gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22366783 NCBI chr10:106,118,106...106,120,951
Ensembl chr10:106,118,108...106,120,951 		JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: therapeutic CTD PMID:36093370 NCBI chr 6:57,961,423...57,998,901
Ensembl chr 6:57,961,423...57,998,901 		JBrowse link
G Alx1 ALX homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9847249 NCBI chr 7:40,044,185...40,063,778
Ensembl chr 7:40,033,676...40,063,778 		JBrowse link
G Alx4 ALX homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9847249 NCBI chr 3:100,067,052...100,103,624
Ensembl chr 3:100,067,052...100,103,624 		JBrowse link
G Ankh ANKH inorganic pyrophosphate transport regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:18027777 NCBI chr 2:79,883,350...80,011,222
Ensembl chr 2:79,883,544...80,011,699 		JBrowse link
G Anxa1 annexin A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17405164 NCBI chr 1:227,287,713...227,306,739
Ensembl chr 1:227,287,717...227,306,831 		JBrowse link
G Apaf1 apoptotic peptidase activating factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9753320 PMID:9753321 NCBI chr 7:27,381,392...27,466,772
Ensembl chr 7:27,381,855...27,466,772 		JBrowse link
G Atp6ap2 ATPase H+ transporting accessory protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr  X:12,856,708...12,883,670
Ensembl chr  X:12,855,859...12,905,875 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO CTD Direct Evidence: marker/mechanism CTD PMID:19291773 NCBI chr  X:74,916,548...75,062,880
Ensembl chr  X:74,916,548...75,062,880 		JBrowse link
G B3gat3 beta-1,3-glucuronyltransferase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr 1:215,246,453...215,253,033
Ensembl chr 1:215,246,482...215,266,876 		JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr17:9,023,667...9,032,742
Ensembl chr17:9,023,618...9,032,745 		JBrowse link
G Bmpr1a bone morphogenetic protein receptor type 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15804571 NCBI chr16:9,740,751...9,786,861
Ensembl chr16:9,742,875...9,786,861 		JBrowse link
G Bmpr1b bone morphogenetic protein receptor type 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15804571 NCBI chr 2:233,211,525...233,544,344
Ensembl chr 2:233,211,525...233,544,311 		JBrowse link
G Bnc2 basonuclin zinc finger protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19706529 NCBI chr 5:103,724,934...104,061,890
Ensembl chr 5:103,724,934...104,125,428 		JBrowse link
G Chst14 carbohydrate sulfotransferase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20842734 NCBI chr 3:126,370,348...126,372,405
Ensembl chr 3:126,370,348...126,372,777 		JBrowse link
G Cntn4 contactin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15106122 NCBI chr 4:140,180,696...141,177,771
Ensembl chr 4:140,596,284...141,177,766 		JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:19638309 NCBI chr 2:204,509,136...204,702,264
Ensembl chr 2:204,509,136...204,702,264 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16637051 NCBI chr20:4,788,829...4,818,492
Ensembl chr20:4,788,829...4,817,648 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:9061443 PMID:15562585 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:130,977,561...131,006,627 		JBrowse link
G Colec11 collectin sub-family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr 6:50,952,357...50,984,845
Ensembl chr 6:50,952,357...50,999,493 		JBrowse link
G Csnk1a1 casein kinase 1, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr18:57,285,156...57,320,540
Ensembl chr18:57,287,412...57,320,538 		JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11262227 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:129,517,545...129,544,662 		JBrowse link
G Dcaf7 DDB1 and CUL4 associated factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr10:91,473,900...91,496,080
Ensembl chr10:91,473,900...91,496,080 		JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17849441 NCBI chr 1:92,689,577...92,698,125
Ensembl chr 1:92,689,577...92,697,406 		JBrowse link
G Dlx1 distal-less homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9187081 NCBI chr 3:76,763,864...76,768,454
Ensembl chr 3:76,763,500...76,768,447 		JBrowse link
G Dlx2 distal-less homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9187081 NCBI chr 3:76,777,912...76,781,255
Ensembl chr 3:76,777,912...76,781,255 		JBrowse link
G Dlx5 distal-less homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10433909 PMID:10433912 PMID:14666512 NCBI chr 4:35,965,579...35,969,973
Ensembl chr 4:35,965,579...35,969,845 		JBrowse link
G Dlx6 distal-less homeobox 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14666512 NCBI chr 4:35,951,005...35,956,354
Ensembl chr 4:35,951,005...35,956,354 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614070 NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:32,512,070...32,614,970 		JBrowse link
G Dnmt3b DNA methyltransferase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17908720 NCBI chr 3:162,590,777...162,629,313
Ensembl chr 3:162,604,037...162,629,313 		JBrowse link
G Ece1 endothelin converting enzyme 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9449665 NCBI chr 5:155,361,031...155,462,723
Ensembl chr 5:155,360,639...155,462,719 		JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:8152482 PMID:9671575 PMID:10100047 PMID:20707411 PMID:8152482 RGD:734913 NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,660,799...22,666,687 		JBrowse link
G Ednra endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9811577 PMID:17294360 NCBI chr19:47,137,360...47,207,961
Ensembl chr19:47,137,771...47,201,284 		JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10319864 NCBI chr14:95,378,626...95,551,358
Ensembl chr14:95,378,626...95,551,358 		JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26921506 NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:114,946,982...115,058,574 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18628313 NCBI chr16:7,771,311...7,841,895
Ensembl chr16:7,771,581...7,841,895 		JBrowse link
G Erf Ets2 repressor factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23354439 NCBI chr 1:89,957,760...89,966,213
Ensembl chr 1:89,957,760...89,966,213 		JBrowse link
G Ets2 ETS proto-oncogene 2, transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19764029 NCBI chr11:48,491,057...48,507,843
Ensembl chr11:48,491,394...48,507,842 		JBrowse link
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10471511 NCBI chr 5:9,646,599...9,884,609
Ensembl chr 5:9,646,591...9,884,614 		JBrowse link
G Fadd Fas associated via death domain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17656375 NCBI chr 1:209,169,245...209,175,423
Ensembl chr 1:209,169,318...209,174,976 		JBrowse link
G Fam83h family with sequence similarity 83, member H ISO CTD Direct Evidence: marker/mechanism CTD PMID:19407157 NCBI chr 7:109,597,129...109,605,317
Ensembl chr 7:109,597,129...109,609,188 		JBrowse link
G Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7954831 NCBI chr  X:23,466,791...23,509,773
Ensembl chr  X:23,467,530...23,509,979 		JBrowse link
G Fgf3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17656375 NCBI chr 1:209,430,457...209,434,832
Ensembl chr 1:209,430,457...209,434,832 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16720880 NCBI chr 1:254,533,504...254,539,605
Ensembl chr 1:254,533,504...254,539,605 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.P250R (mouse) 		CTD
RGD		 PMID:12514106 PMID:21538817 RGD:11251832 NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.S250W (mouse) 		CTD
RGD		 PMID:10631169 PMID:16465081 PMID:18082115 PMID:21538817 RGD:11251832 NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
G Fmr1 fragile X messenger ribonucleoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17065172 PMID:22043169 NCBI chr  X:152,284,857...152,322,686
Ensembl chr  X:152,284,841...152,322,675 		JBrowse link
G Folr1 folate receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15800851 NCBI chr 1:165,631,462...165,650,430
Ensembl chr 1:165,631,462...165,642,669 		JBrowse link
G Foxc2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9106663 PMID:9409679 NCBI chr19:66,094,718...66,097,420
Ensembl chr19:66,094,700...66,153,977 		JBrowse link
G Foxi1 forkhead box I1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr10:19,310,466...19,314,405
Ensembl chr10:19,310,482...19,314,405 		JBrowse link
G Foxp2 forkhead box P2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17033973 NCBI chr 4:44,099,848...44,677,700
Ensembl chr 4:44,099,959...44,677,696 		JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISO DNA:missense mutation:cds:c.1687A>T c (p.I563F)(mouse) RGD PMID:23536828 RGD:11554185 NCBI chr 5:102,367,201...102,515,464
Ensembl chr 5:102,367,201...102,515,404 		JBrowse link
G Fzd4 frizzled class receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chr 1:152,692,507...152,701,372
Ensembl chr 1:152,692,507...152,701,372 		JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15878204 NCBI chr 1:117,602,772...117,838,230
Ensembl chr 1:117,431,842...117,836,725 		JBrowse link
G Gata2 GATA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20707411 NCBI chr 4:122,211,501...122,225,058
Ensembl chr 4:122,211,829...122,225,055 		JBrowse link
G Gna11 G protein subunit alpha 11 ISO RGD PMID:9687499 RGD:737757 NCBI chr 7:8,814,285...8,828,628
Ensembl chr 7:8,814,327...8,830,558 		JBrowse link
G Gnaq G protein subunit alpha q ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:9687499 PMID:9687499 RGD:737757 NCBI chr 1:222,852,453...223,098,754
Ensembl chr 1:222,852,097...223,126,742 		JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15213848 NCBI chr11:95,882,561...95,883,738 JBrowse link
G Gpc4 glypican 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr  X:136,565,536...136,676,142
Ensembl chr  X:136,565,591...136,676,057 		JBrowse link
G Gpc6 glypican 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19481194 NCBI chr15:100,437,415...101,435,038
Ensembl chr15:100,437,943...101,435,027 		JBrowse link
G Gsc goosecoid homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:10433910 NCBI chr 6:129,152,836...129,154,875
Ensembl chr 6:129,152,836...129,154,875 		JBrowse link
G Gtf2ird1 GTF2I repeat domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20007321 NCBI chr12:27,890,594...27,997,506
Ensembl chr12:27,890,675...27,997,494 		JBrowse link
G Hapln1 hyaluronan and proteoglycan link protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9988279 NCBI chr 2:22,366,967...22,431,709
Ensembl chr 2:22,366,967...22,429,098 		JBrowse link
G Hmx1 H6 family homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19379485 NCBI chr14:79,585,840...79,589,626
Ensembl chr14:79,585,840...79,589,626 		JBrowse link
G Hoxa1 homeobox A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10529420 NCBI chr 4:82,586,505...82,589,209
Ensembl chr 4:82,586,505...82,589,209 		JBrowse link
G Hoxa3 homeobox A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1673020 NCBI chr 4:82,599,860...82,643,831
Ensembl chr 4:82,599,860...82,643,831 		JBrowse link
G Hoxb1 homeo box B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10529420 NCBI chr10:81,827,915...81,830,404
Ensembl chr10:81,827,915...81,830,404 		JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10545953 NCBI chr 5:154,960,818...155,061,971
Ensembl chr 5:154,960,846...155,061,971 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27469509 NCBI chr 1:143,447,925...143,467,248
Ensembl chr 1:143,439,323...143,467,248 		JBrowse link
G Irf6 interferon regulatory factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17041601 NCBI chr13:107,200,876...107,220,083
Ensembl chr13:107,200,731...107,220,049 		JBrowse link
G Irx5 iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr19:30,812,033...30,816,885
Ensembl chr19:30,797,202...30,815,029 		JBrowse link
G Itgb1bp1 integrin subunit beta 1 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17567669 NCBI chr 6:46,549,994...46,564,735
Ensembl chr 6:46,549,999...46,564,398 		JBrowse link
G Jag2 jagged canonical Notch ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9531541 NCBI chr 6:137,804,133...137,826,738
Ensembl chr 6:137,804,133...137,826,738 		JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544363 PMID:22544367 NCBI chr10:89,737,637...89,868,620
Ensembl chr10:89,737,637...89,868,620 		JBrowse link
G Kiaa0586 KIAA0586 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:15554946 NCBI chr 6:95,358,682...95,461,911
Ensembl chr 6:95,358,619...95,462,148 		JBrowse link
G Kif3a kinesin family member 3a ISO CTD Direct Evidence: marker/mechanism CTD PMID:17698054 NCBI chr10:38,226,388...38,263,062
Ensembl chr10:38,226,741...38,260,516 		JBrowse link
G Letm1 leucine zipper and EF-hand containing transmembrane protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14706454 NCBI chr14:81,167,268...81,206,776
Ensembl chr14:81,162,309...81,209,459 		JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15726408 NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:176,237,564...176,288,072 		JBrowse link
G Lpar1 lysophosphatidic acid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11087877 NCBI chr 5:78,024,139...78,147,071
Ensembl chr 5:78,024,139...78,142,188 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632512 NCBI chr 3:74,597,148...74,754,535
Ensembl chr 3:74,597,148...74,754,535 		JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11790802 PMID:12379497 NCBI chr 1:212,458,362...212,475,302
Ensembl chr 1:212,459,185...212,475,302 		JBrowse link
G Masp1 MBL associated serine protease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr11:90,839,081...90,909,922
Ensembl chr11:90,839,061...90,917,470 		JBrowse link
G Mbtps1 membrane-bound transcription factor peptidase, site 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr19:64,470,245...64,521,438
Ensembl chr19:64,470,545...64,521,342 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19559301 NCBI chr  X:156,932,481...156,995,981
Ensembl chr  X:156,941,234...156,943,560 		JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17728286 NCBI chr 8:12,782,829...12,793,108
Ensembl chr 8:12,782,813...12,793,105 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17400654 PMID:17440987 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856 		JBrowse link
G Mnt MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr10:60,197,654...60,213,221
Ensembl chr10:60,197,948...60,213,209 		JBrowse link
G Msl3 MSL complex subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30224647 NCBI chr  X:29,210,388...29,228,060
Ensembl chr  X:29,210,427...29,228,054 		JBrowse link
G Msx1 msh homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12163415 PMID:14630905 PMID:14654219 PMID:15301380 NCBI chr14:77,185,802...77,189,735
Ensembl chr14:77,185,802...77,189,735 		JBrowse link
G Msx2 msh homeobox 2 ISO parietal foramina, OMIM:168500, DNA:point mutation:exon: R172H, DNA:deletions
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:9147639 PMID:10742103 RGD:1600492 NCBI chr17:11,102,284...11,107,949
Ensembl chr17:11,102,247...11,107,945 		JBrowse link
G Mthfd1l methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like ISO RGD PMID:23267094 RGD:12914149 NCBI chr 1:42,849,424...43,038,313
Ensembl chr 1:42,849,374...43,038,309 		JBrowse link
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16020517 NCBI chr18:56,407,308...56,470,007
Ensembl chr18:56,411,200...56,448,612 		JBrowse link
G Nipbl NIPBL, cohesin loading factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19763162 NCBI chr 2:59,126,676...59,314,841
Ensembl chr 2:59,126,676...59,293,277 		JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17849441 NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:29,676,171...29,721,613 		JBrowse link
G Nrxn1 neurexin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18057082 NCBI chr 6:8,931,360...10,077,381
Ensembl chr 6:8,935,523...10,077,374 		JBrowse link
G Pax3 paired box 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14556253 NCBI chr 9:87,015,960...87,112,531
Ensembl chr 9:87,016,999...87,124,141 		JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7559133 PMID:9079035 PMID:9363853 NCBI chr 3:112,590,034...112,611,771
Ensembl chr 3:112,590,391...112,611,763 		JBrowse link
G Pbx4 PBX homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr16:19,588,998...19,624,016
Ensembl chr16:19,588,999...19,623,921 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11023856 NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,360,028...33,408,516 		JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO CTD Direct Evidence: marker/mechanism CTD PMID:1962291 NCBI chr  X:41,422,561...41,671,226
Ensembl chr  X:41,426,101...41,671,226 		JBrowse link
G Pitx2 paired-like homeodomain 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10499585 PMID:14623826 NCBI chr 2:220,391,417...220,411,588
Ensembl chr 2:220,391,888...220,411,591 		JBrowse link
G Prkra protein activator of interferon induced protein kinase EIF2AK2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22194846 NCBI chr 3:81,982,669...82,002,028
Ensembl chr 3:81,982,673...82,001,525 		JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 PMID:18539553 NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,548,449...1,613,461 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:9286463 PMID:14574156 PMID:17427195 PMID:18759867 PMID:19265751 More... NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:240,043,707...240,110,330 		JBrowse link
G Rad23b RAD23 homolog B, nucleotide excision repair protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11809813 NCBI chr 5:74,885,518...74,923,621
Ensembl chr 5:74,885,516...74,962,426 		JBrowse link
G Rai1 retinoic acid induced 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19116176 NCBI chr10:45,412,748...45,507,747
Ensembl chr10:45,447,427...45,507,747 		JBrowse link
G Rax retina and anterior neural fold homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:15789424 NCBI chr18:61,733,322...61,737,444
Ensembl chr18:61,733,322...61,737,444 		JBrowse link
G Rcan1 regulator of calcineurin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15906378 NCBI chr11:45,108,123...45,188,065
Ensembl chr11:45,108,124...45,118,236 		JBrowse link
G Rdh10 retinol dehydrogenase 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793605 NCBI chr 5:7,969,931...7,998,834
Ensembl chr 5:7,971,705...7,999,019 		JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31570889 NCBI chr 8:117,870,548...117,904,303
Ensembl chr 8:117,870,270...117,904,302 		JBrowse link
G Runx2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14688224 NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:23,664,952...23,990,027 		JBrowse link
G Ryk receptor-like tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10932185 NCBI chr 8:112,298,158...112,370,912
Ensembl chr 8:112,298,369...112,370,908 		JBrowse link
G Sall3 spalt-like transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15282310 NCBI chr18:76,680,997...76,700,905
Ensembl chr18:76,681,005...76,700,905 		JBrowse link
G Sall4 spalt-like transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16402211 NCBI chr 3:177,891,705...177,909,743
Ensembl chr 3:177,891,705...177,909,743 		JBrowse link
G Satb2 SATB homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16960803 NCBI chr 9:65,842,351...66,028,569
Ensembl chr 9:65,844,570...66,021,238 		JBrowse link
G Sec61a1 SEC61 translocon subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr 4:122,530,785...122,545,141
Ensembl chr 4:122,530,789...122,545,141 		JBrowse link
G Setbp1 SET binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436468 NCBI chr18:74,465,616...74,827,455
Ensembl chr18:74,465,616...74,827,455 		JBrowse link
G Sh3pxd2b SH3 and PX domains 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19669234 NCBI chr10:17,422,906...17,538,977
Ensembl chr10:17,422,947...17,512,854 		JBrowse link
G Sim2 SIM bHLH transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12203729 NCBI chr11:46,883,859...46,923,305
Ensembl chr11:46,883,859...46,923,305 		JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27399968 NCBI chr 8:66,377,471...66,432,150
Ensembl chr 8:66,381,657...66,434,542 		JBrowse link
G Six1 SIX homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12834866 NCBI chr 6:97,482,617...97,487,853
Ensembl chr 6:97,482,617...97,487,853 		JBrowse link
G Ski Ski proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:9284043 NCBI chr 5:170,995,851...171,064,957
Ensembl chr 5:170,995,851...171,064,957 		JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18925670 NCBI chr18:56,918,662...56,937,032
Ensembl chr18:56,923,337...56,937,012 		JBrowse link
G Slc35d1 solute carrier family 35 member D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr 5:123,157,739...123,210,350
Ensembl chr 5:123,155,407...123,210,073 		JBrowse link
G Smad2 SMAD family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9655392 PMID:15183723 NCBI chr18:72,124,792...72,193,345
Ensembl chr18:72,124,863...72,187,388 		JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15183723 PMID:21217753 NCBI chr 8:73,022,204...73,132,324
Ensembl chr 8:73,024,760...73,132,324 		JBrowse link
G Smad4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22158539 NCBI chr18:69,518,988...69,549,684
Ensembl chr18:69,518,988...69,549,684 		JBrowse link
G Sox9 SRY-box transcription factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11807034 NCBI chr10:98,305,744...98,311,250
Ensembl chr10:98,305,744...98,311,250 		JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr15:89,106,809...89,111,926
Ensembl chr15:89,103,731...89,115,074 		JBrowse link
G Srp68 signal recognition particle 68 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr10:101,980,089...102,006,913
Ensembl chr10:101,980,090...102,007,207 		JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18316031 NCBI chr 8:67,444,757...67,464,719
Ensembl chr 8:67,444,742...67,464,720 		JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16765830 NCBI chr 3:30,639,868...30,642,759 JBrowse link
G Tbce tubulin folding cofactor E ISO CTD Direct Evidence: marker/mechanism CTD PMID:12389028 NCBI chr17:55,983,627...56,031,578
Ensembl chr17:55,985,707...56,032,302 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15190012 PMID:17000704 NCBI chr11:95,913,610...95,923,392
Ensembl chr11:95,913,610...95,923,392 		JBrowse link
G Tbx15 T-box transcription factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19068278 NCBI chr 2:189,265,373...189,376,466
Ensembl chr 2:189,265,373...189,376,466 		JBrowse link
G Tcf4 transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436254 NCBI chr18:65,216,840...65,563,186
Ensembl chr18:65,216,849...65,558,401 		JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16938878 NCBI chr18:56,537,437...56,570,727
Ensembl chr18:56,537,437...56,570,727 		JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:14534133 PMID:19685247 NCBI chr17:24,230,064...24,253,219
Ensembl chr17:24,229,910...24,253,219 		JBrowse link
G Tfap2b transcription factor AP-2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:10802654 NCBI chr 9:29,282,703...29,312,568
Ensembl chr 9:29,282,825...29,312,568 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9217007 NCBI chr13:100,691,540...100,793,227
Ensembl chr13:100,692,953...100,792,856 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16368934 PMID:16885183 NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:124,674,986...124,761,469 		JBrowse link
G Thrb thyroid hormone receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:10660344 NCBI chr15:10,115,954...10,465,231
Ensembl chr15:10,115,954...10,313,680 		JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20018682 NCBI chr13:81,993,172...82,016,496
Ensembl chr13:81,993,097...82,017,201 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9493073 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299 		JBrowse link
G Tp63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10227294 NCBI chr11:88,343,647...88,554,543
Ensembl chr11:88,343,651...88,554,177 		JBrowse link
G Trim37 tripartite motif-containing 37 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14757854 NCBI chr10:72,440,672...72,572,831
Ensembl chr10:72,440,644...72,572,828 		JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11708946 PMID:19759027 NCBI chr 7:83,806,121...84,032,609
Ensembl chr 7:83,811,497...84,031,786 		JBrowse link
G Ube3a ubiquitin protein ligase E3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15878204 NCBI chr 1:119,204,244...119,297,097
Ensembl chr 1:119,206,148...119,297,097 		JBrowse link
G Ufd1 ubiquitin recognition factor in ER associated degradation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10024240 NCBI chr11:95,665,971...95,689,423
Ensembl chr11:95,665,972...95,689,434 		JBrowse link
G Unc45b unc-45 myosin chaperone B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17189627 NCBI chr10:68,343,011...68,370,683
Ensembl chr10:68,343,014...68,370,980 		JBrowse link
G Uxs1 UDP-glucuronate decarboxylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr 9:740,929...818,310
Ensembl chr 9:740,724...818,319 		JBrowse link
G Vsx1 visual system homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15051220 NCBI chr 3:159,974,693...159,982,292
Ensembl chr 3:159,974,693...159,982,292 		JBrowse link
G Zic3 Zic family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17127413 NCBI chr  X:141,159,623...141,165,587
Ensembl chr  X:141,149,594...141,170,464 		JBrowse link
G Zic5 Zic family member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15136147 NCBI chr15:105,964,932...105,973,669
Ensembl chr15:105,964,932...105,973,669 		JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17152860 NCBI chr 5:139,912,395...139,945,532
Ensembl chr 5:139,913,671...139,945,532 		JBrowse link
22q11 Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12223415 NCBI chr 1:254,533,504...254,539,605
Ensembl chr 1:254,533,504...254,539,605 		JBrowse link
G Six1 SIX homeobox 1 ISO RGD PMID:21364285 RGD:11561941 NCBI chr 6:97,482,617...97,487,853
Ensembl chr 6:97,482,617...97,487,853 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO RGD PMID:16452092 RGD:155663362 NCBI chr11:95,913,610...95,923,392
Ensembl chr11:95,913,610...95,923,392 		JBrowse link
3MC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: 3MC syndrome ClinVar PMID:21554267 PMID:25741868 PMID:28492532 NCBI chr 5:26,609,245...26,792,736
Ensembl chr 5:26,609,407...26,792,734 		JBrowse link
G Colec11 collectin sub-family member 11 ISO ClinVar Annotator: match by term: 3MC syndrome ClinVar PMID:25741868 NCBI chr 6:50,952,357...50,984,845
Ensembl chr 6:50,952,357...50,999,493 		JBrowse link
3MC syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Colec11 collectin sub-family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr 6:50,952,357...50,984,845
Ensembl chr 6:50,952,357...50,999,493 		JBrowse link
G Masp1 MBL associated serine protease 1 ISO ClinVar Annotator: match by term: 3MC syndrome 1 | ClinVar Annotator: match by term: Craniosynostosis with lid anomalies | ClinVar Annotator: match by term: MASP1-related condition | ClinVar Annotator: match by term: MICHELS SYNDROME
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:17937425 PMID:18266249 PMID:21035106 PMID:21258343 PMID:22966085 More... NCBI chr11:90,839,081...90,909,922
Ensembl chr11:90,839,061...90,917,470 		JBrowse link
3MC syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Colec11 collectin sub-family member 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 3MC syndrome 2 | ClinVar Annotator: match by term: COLEC11-related condition 		OMIM
CTD
ClinVar		 PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 PMID:28301481 More... NCBI chr 6:50,952,357...50,984,845
Ensembl chr 6:50,952,357...50,999,493 		JBrowse link
G Masp1 MBL associated serine protease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr11:90,839,081...90,909,922
Ensembl chr11:90,839,061...90,917,470 		JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: OSA syndrome ClinVar PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 More... NCBI chr18:56,918,662...56,937,032
Ensembl chr18:56,923,337...56,937,012 		JBrowse link
3MC syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Colec10 collectin subfamily member 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 3MC syndrome 3 | ClinVar Annotator: match by term: COLEC10-related condition 		OMIM
CTD
ClinVar		 PMID:25741868 PMID:28301481 NCBI chr 7:87,634,686...87,695,465
Ensembl chr 7:87,634,654...87,699,534 		JBrowse link
G Colec11 collectin sub-family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr 6:50,952,357...50,984,845
Ensembl chr 6:50,952,357...50,999,493 		JBrowse link
G Masp1 MBL associated serine protease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr11:90,839,081...90,909,922
Ensembl chr11:90,839,061...90,917,470 		JBrowse link
Abruzzo-Erickson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx22 T-box transcription factor 22 ISO ClinVar Annotator: match by term: Abruzzo-Erickson syndrome | ClinVar Annotator: match by term: TBX22-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:839509 PMID:14729838 PMID:22784330 PMID:25741868 PMID:28492532 NCBI chr  X:76,796,398...76,847,447
Ensembl chr  X:76,825,005...76,847,443 		JBrowse link
acrocephalosyndactylia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO DNA:missense mutation: :p.P252R (human) RGD PMID:7874169 PMID:25251565 RGD:11567243, RGD:11567271 NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 severity
treatment 		ISO
ISS 		ClinVar Annotator: match by term: ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLY | ClinVar Annotator: match by term: Acrocephalosyndactyly type I | ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly | ClinVar Annotator: match by term: Craniofacial-skeletal-dermatologic dysplasia | ClinVar Annotator: match by term: Syndactylic oxycephaly
OMIM:101200
ClinVar Annotator: match by term: Acrocephalosyndactyly type I | ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly | ClinVar Annotator: match by term: Syndactylic oxycephaly
DNA:missense mutation:cds:p.P253R (human)
DNA:missense mutation:cds:p.A172F (human)
DNA:missense mutations:cds:p.S252W, p.P253R (human)
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds: 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1641873 PMID:7607643 PMID:7655462 PMID:7668257 PMID:7719333 More... RGD:12801488, RGD:12801475, RGD:12801474, RGD:12801413, RGD:8547743 NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly ClinVar PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 More... NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO SCS,OMIM:101400;DNA:point mutation:exon:Y103X,Q119P
ClinVar Annotator: match by term: ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLY | ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:1240778 PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 More... RGD:1624353 NCBI chr 6:56,402,309...56,404,303
Ensembl chr 6:56,398,061...56,404,965 		JBrowse link
acrofacial dysostosis Cincinnati type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1a RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Acrofacial dysostosis Cincinnati type | ClinVar Annotator: match by term: POLR1A-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25913037 PMID:28051070 More... NCBI chr 4:105,508,305...105,572,272
Ensembl chr 4:105,508,248...105,574,036 		JBrowse link
acromelic frontonasal dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zswim6 zinc finger, SWIM-type containing 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acromelic frontonasal dysostosis 		OMIM
CTD
ClinVar		 PMID:25105228 PMID:25741868 PMID:26706854 PMID:28492532 NCBI chr 2:40,944,617...41,112,340
Ensembl chr 2:40,946,435...41,112,519 		JBrowse link
agnathia-otocephaly complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxh1 forkhead box H1 ISS OMIM:202650 MouseDO NCBI chr 7:110,268,608...110,272,105
Ensembl chr 7:110,268,612...110,270,692 		JBrowse link
G Prrx1 paired related homeobox 1 ISO ClinVar Annotator: match by term: Agnathia-otocephaly complex | ClinVar Annotator: match by term: PRRX1-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:12244557 PMID:21294718 PMID:22211708 PMID:22674740 PMID:23444262 More... NCBI chr13:78,136,783...78,205,379
Ensembl chr13:78,136,783...78,204,058 		JBrowse link
G Trappc10 trafficking protein particle complex subunit 10 ISS OMIM:202650 MouseDO NCBI chr20:10,438,404...10,498,740
Ensembl chr20:10,438,404...10,498,740 		JBrowse link
Al-Raqad Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcps decapping enzyme, scavenger ISO ClinVar Annotator: match by term: Al-Raqad syndrome | ClinVar Annotator: match by term: DCPS-related condition OMIM
ClinVar		 PMID:25701870 PMID:25712129 PMID:25741868 PMID:28492532 PMID:30289615 NCBI chr 8:41,729,507...41,782,222
Ensembl chr 8:41,724,563...41,782,222 		JBrowse link
Alazami Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:23033978 PMID:24614104 PMID:25326669 PMID:25741868 PMID:26350204 More... NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:129,517,545...129,544,662 		JBrowse link
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Alazami syndrome | ClinVar Annotator: match by term: LARP7-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22865833 PMID:25741868 PMID:25753663 More... NCBI chr 2:218,672,145...218,687,332
Ensembl chr 2:218,672,208...218,687,308 		JBrowse link
Alazami-Yuan Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:32017898 More... NCBI chr 2:218,672,145...218,687,332
Ensembl chr 2:218,672,208...218,687,308 		JBrowse link
G Taf6 TATA-box binding protein associated factor 6 ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome | ClinVar Annotator: match by term: TAF6-related condition OMIM
ClinVar		 PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 PMID:28492532 NCBI chr12:22,169,570...22,178,031
Ensembl chr12:22,168,718...22,177,938 		JBrowse link
Amish Lethal Microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a19 solute carrier family 25 member 19 ISO ClinVar Annotator: match by term: Amish lethal microcephaly | ClinVar Annotator: match by term: Microcephaly, Amish type | ClinVar Annotator: match by term: SLC25A19-related condition | ClinVar Annotator: match by term: THIAMINE METABOLISM DYSFUNCTION SYNDROME 3 (MICROCEPHALY TYPE)
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:12185364 PMID:19798730 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:101,353,426...101,366,551
Ensembl chr10:101,350,106...101,366,351 		JBrowse link
Ankyloblepharon Filiforme Adnatum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Ankyloblepharon filiforme congenitum ClinVar PMID:25741868 NCBI chr11:88,343,647...88,554,543
Ensembl chr11:88,343,651...88,554,177 		JBrowse link
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO
ISS 		ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate | ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
OMIM:106260
DNA:missense mutations:exon:multiple
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:9774969 PMID:10535733 PMID:10839977 PMID:10886756 More... RGD:11568643 NCBI chr11:88,343,647...88,554,543
Ensembl chr11:88,343,651...88,554,177 		JBrowse link
Antley-Bixler syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp51 cytochrome P450, family 51 ISO RGD PMID:21705796 RGD:41412188 NCBI chr 4:30,991,693...31,010,147
Ensembl chr 4:30,991,613...31,010,450 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteodysgenesis, multisynostotic with fractures
DNA:missense mutations:cds:multiple (human) 		CTD
ClinVar
RGD		 PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... RGD:12801485 NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14758361 PMID:15220035 PMID:16906539 PMID:27496950 NCBI chr12:26,587,674...26,655,612
Ensembl chr12:26,587,674...26,635,809 		JBrowse link
Antley-Bixler syndrome with disordered steroidogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Osteodysgenesis, multisynostotic with fractures
ClinVar Annotator: match by term: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | ClinVar Annotator: match by term: Trapezoidocephaly synostosis syndrome 		ClinVar PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | ClinVar Annotator: match by term: POR-related disorder OMIM
ClinVar		 PMID:9360545 PMID:9536098 PMID:12116245 PMID:14513299 PMID:14758361 More... NCBI chr12:26,587,674...26,655,612
Ensembl chr12:26,587,674...26,635,809 		JBrowse link
Antley-Bixler syndrome without disordered steroidogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis OMIM
ClinVar		 PMID:7607643 PMID:7668257 PMID:7719344 PMID:7719345 PMID:7773284 More... NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
Arboleda-Tham syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | ClinVar Annotator: match by term: KAT6A syndrome | ClinVar Annotator: match by term: KAT6A-related condition | ClinVar Annotator: match by term: KAT6A-related neurodevelopmental disorder with multiple anomalies OMIM
ClinVar		 PMID:17374998 PMID:23431171 PMID:25728775 PMID:25728777 PMID:25741868 More... NCBI chr16:75,787,411...75,868,584
Ensembl chr16:75,787,411...75,866,099 		JBrowse link
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | ClinVar Annotator: match by term: PPP3CA-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29432562 PMID:33963760 NCBI chr 2:227,839,058...228,113,560
Ensembl chr 2:227,839,062...228,113,554 		JBrowse link
Asparagine Synthetase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asns asparagine synthetase (glutamine-hydrolyzing) ISO OMIM NCBI chr 4:36,752,061...36,769,970
Ensembl chr 4:36,751,802...36,776,050 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO ClinVar Annotator: match by term: Asparagine synthetase deficiency ClinVar PMID:25741868 PMID:28492532 PMID:33864888 NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:69,813,265...69,819,973 		JBrowse link
Au-Kline Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Au-Kline syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:75,159,635...75,267,094
Ensembl chr  X:75,159,782...75,267,093 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Kabuki-like syndrome ClinVar PMID:25741868 NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,822,620...11,968,266 		JBrowse link
G Hnrnpk heterogeneous nuclear ribonucleoprotein K ISO ClinVar Annotator: match by term: Au-Kline syndrome | ClinVar Annotator: match by term: HNRNPK-related condition OMIM
ClinVar		 PMID:18414213 PMID:25741868 PMID:26173930 PMID:26220823 PMID:26954065 More... NCBI chr17:6,269,302...6,280,429
Ensembl chr17:6,268,385...6,280,565 		JBrowse link
G Med13l mediator complex subunit 13L ISO ClinVar Annotator: match by term: Kabuki-like syndrome ClinVar PMID:25741868 NCBI chr12:43,468,556...43,665,819
Ensembl chr12:43,468,556...43,665,819 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Okamoto syndrome ClinVar PMID:7563486 PMID:7987306 PMID:8707293 PMID:8772572 PMID:8956040 More... NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:148,328,079...148,334,991 		JBrowse link
autosomal dominant craniodiaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sost sclerostin ISO ClinVar Annotator: match by term: Craniodiaphyseal dysplasia, autosomal dominant
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:17853455 PMID:21221996 PMID:25741868 NCBI chr10:87,412,722...87,415,766
Ensembl chr10:87,411,721...87,415,766 		JBrowse link
autosomal dominant intellectual developmental disorder 63 with macrocephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trio trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY OMIM
ClinVar		 PMID:25741868 PMID:26721934 PMID:27418539 PMID:28492532 PMID:28796471 More... NCBI chr 2:80,235,485...80,531,824
Ensembl chr 2:80,235,485...80,531,612 		JBrowse link
autosomal dominant primary microcephaly 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmnb1 lamin B1 ISO ClinVar Annotator: match by term: LMNB1-related primary microcephaly | ClinVar Annotator: match by term: Microcephaly 26, primary, autosomal dominant OMIM
ClinVar		 PMID:25741868 PMID:32910914 PMID:33033404 NCBI chr18:52,373,939...52,413,284
Ensembl chr18:52,373,757...52,413,283 		JBrowse link
autosomal dominant primary microcephaly 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmnb2 lamin B2 susceptibility ISO ClinVar Annotator: match by term: Microcephaly 27, primary, autosomal dominant ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:33033404 NCBI chr 7:9,443,308...9,459,468
Ensembl chr 7:9,440,128...9,459,342 		JBrowse link
autosomal dominant Robinow syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 ClinVar PMID:25045061 PMID:25741868 PMID:25817014 PMID:28492532 NCBI chr 5:171,738,911...171,750,967
Ensembl chr 5:171,739,133...171,750,966 		JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 ClinVar PMID:23806086 PMID:24088041 PMID:25741868 PMID:26924530 NCBI chr11:93,869,834...93,887,013
Ensembl chr11:93,869,834...93,886,903 		JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 ClinVar PMID:24458798 PMID:25741868 PMID:25759469 PMID:28492532 PMID:29276006 More... NCBI chr10:88,061,988...88,063,898
Ensembl chr10:88,061,667...88,065,396 		JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:12,124,749...12,300,044
Ensembl chr17:12,124,749...12,300,044 		JBrowse link
G Wnt5a Wnt family member 5A ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 | ClinVar Annotator: match by term: WNT5A-related condition OMIM
ClinVar		 PMID:5771504 PMID:9536098 PMID:16602827 PMID:17576681 PMID:18414213 More... NCBI chr16:3,702,300...3,724,860
Ensembl chr16:3,703,665...3,724,860 		JBrowse link
autosomal dominant Robinow syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chn1 chimerin 1 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 ClinVar NCBI chr 3:78,917,329...79,084,040
Ensembl chr 3:78,917,329...79,084,197 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 | ClinVar Annotator: match by term: DVL1-related condition OMIM
ClinVar		 PMID:9536098 PMID:10319206 PMID:17576681 PMID:23806086 PMID:24088041 More... NCBI chr 5:171,738,911...171,750,967
Ensembl chr 5:171,739,133...171,750,966 		JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 ClinVar PMID:23806086 PMID:24088041 PMID:25741868 PMID:26924530 PMID:29276006 NCBI chr11:93,869,834...93,887,013
Ensembl chr11:93,869,834...93,886,903 		JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 ClinVar PMID:24458798 PMID:25741868 PMID:25759469 PMID:28492532 PMID:29276006 More... NCBI chr10:88,061,988...88,063,898
Ensembl chr10:88,061,667...88,065,396 		JBrowse link
autosomal dominant Robinow syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 3 | ClinVar Annotator: match by term: DVL3-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23806086 PMID:24088041 PMID:25741868 More... NCBI chr11:93,869,834...93,887,013
Ensembl chr11:93,869,834...93,886,903 		JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 3 ClinVar PMID:25741868 PMID:29276006 NCBI chr10:88,061,988...88,063,898
Ensembl chr10:88,061,667...88,065,396 		JBrowse link
autosomal recessive craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive 		OMIM
CTD
ClinVar		 PMID:11146471 PMID:23951358 PMID:25741868 PMID:28492532 NCBI chr20:36,302,490...36,315,010
Ensembl chr20:36,302,352...36,319,689 		JBrowse link
autosomal recessive Robinow syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prickle1 prickle planar cell polarity protein 1 ISS OMIM:268310 MouseDO NCBI chr 7:126,518,587...126,614,581
Ensembl chr 7:126,518,587...126,614,581 		JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO
ISS 		ClinVar Annotator: match by term: Autosomal recessive Robinow syndrome | ClinVar Annotator: match by term: COVESDEM SYNDROME | ClinVar Annotator: match by term: ROR2-related disorder | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly
OMIM:268310
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exons: c.545G>A (p.C182Y),c.227G>A (p.G76D), c.668G>A (p.C223Y)(human)
DNA:nonsense mutation:cds:p.W749X(mouse) 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:10932186 PMID:10932187 PMID:10986040 PMID:12815588 PMID:15952209 More... RGD:11537348, RGD:11537347, RGD:11535948 NCBI chr17:12,124,749...12,300,044
Ensembl chr17:12,124,749...12,300,044 		JBrowse link
autosomal recessive Robinow syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nxn nucleoredoxin ISO ClinVar Annotator: match by term: NXN-related condition | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive 2 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29276006 NCBI chr10:61,607,557...61,745,807
Ensembl chr10:61,607,568...61,745,807 		JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmgn2 high mobility group nucleosomal binding domain 2 ISS OMIM:180500 MouseDO NCBI chr 5:151,475,907...151,479,361
Ensembl chr 5:151,475,909...151,479,397 		JBrowse link
G Pitx2 paired-like homeodomain 2 ISO
ISS 		ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
OMIM:180500 		OMIM
ClinVar
MouseDO		 PMID:8944018 PMID:9536098 PMID:9685346 PMID:10490637 PMID:11301317 More... NCBI chr 2:220,391,417...220,411,588
Ensembl chr 2:220,391,888...220,411,591 		JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 4:96,405,492...96,567,647
Ensembl chr 4:96,405,493...96,567,647 		JBrowse link
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mid1 midline 1 ISO ClinVar Annotator: match by term: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations ClinVar PMID:25741868 NCBI chr  X:27,678,248...28,053,049
Ensembl chr  X:27,681,867...27,906,105 		JBrowse link
G Top2b DNA topoisomerase II beta ISO ClinVar Annotator: match by term: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations | ClinVar Annotator: match by term: TOP2B-related condition OMIM
ClinVar		 PMID:9536098 PMID:11152140 PMID:11476068 PMID:15521984 PMID:17576681 More... NCBI chr15:11,482,089...11,542,464
Ensembl chr15:11,482,089...11,542,464 		JBrowse link
Baller-Gerold syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Baller-Gerold syndrome | ClinVar Annotator: match by term: Craniosynostosis with radial defects
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:9878247 PMID:10319867 PMID:10678659 PMID:12734318 More... NCBI chr 7:110,304,092...110,311,426
Ensembl chr 7:110,304,094...110,311,258 		JBrowse link
Bamforth-Lazarus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16884476 NCBI chr 2:160,607,289...160,699,760
Ensembl chr 2:160,606,288...160,699,760 		JBrowse link
G Foxe1 forkhead box E1 ISO
ISS 		ClinVar Annotator: match by term: Bamforth-Lazarus syndrome
OMIM:241850
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:16884476 More... NCBI chr 5:65,425,630...65,428,438
Ensembl chr 5:65,425,630...65,428,438 		JBrowse link
Baraitser-Winter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome | ClinVar Annotator: match by term: Cerebrofrontofacial syndrome ClinVar PMID:1415343 PMID:2786228 PMID:9714430 PMID:10327243 PMID:12325076 More... NCBI chr12:16,776,664...16,779,634
Ensembl chr12:16,776,661...16,780,242 		JBrowse link
G Actg1 actin, gamma 1 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome ClinVar PMID:31231230 PMID:32028042 NCBI chr10:106,118,106...106,120,951
Ensembl chr10:106,118,108...106,120,951 		JBrowse link
Baraitser-Winter syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 OMIM
ClinVar		 PMID:1415343 PMID:2786228 PMID:3445035 PMID:9536098 PMID:9714430 More... NCBI chr12:16,776,664...16,779,634
Ensembl chr12:16,776,661...16,780,242 		JBrowse link
G Actg1 actin, gamma 1 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:25741868 NCBI chr10:106,118,106...106,120,951
Ensembl chr10:106,118,108...106,120,951 		JBrowse link
Baraitser-Winter syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg1 actin, gamma 1 ISO ClinVar Annotator: match by term: Baraitser-winter syndrome 2 OMIM
ClinVar		 PMID:3351890 PMID:13680526 PMID:14684684 PMID:18414213 PMID:19419963 More... NCBI chr10:106,118,106...106,120,951
Ensembl chr10:106,118,108...106,120,951 		JBrowse link
Baralle-Macken Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Copb1 COPI coat complex subunit beta 1 ISO ClinVar Annotator: match by term: Baralle-Macken syndrome OMIM
ClinVar		 PMID:25741868 PMID:33632302 NCBI chr 1:177,838,751...177,876,688
Ensembl chr 1:177,838,752...177,872,840 		JBrowse link
Barber-Say syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twist2 twist family bHLH transcription factor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Barber-Say syndrome 		OMIM
CTD
ClinVar		 PMID:1867254 PMID:8368246 PMID:9674915 PMID:16650233 PMID:19760652 More... NCBI chr 9:99,822,242...99,866,722
Ensembl chr 9:99,818,962...99,920,270 		JBrowse link
Bartsocas-Papas Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bartsocas-Papas syndrome 1 | ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE 		OMIM
CTD
ClinVar		 PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 More... NCBI chr11:50,591,926...50,614,169
Ensembl chr11:50,591,936...50,614,169 		JBrowse link
Bartsocas-Papas Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chuk component of inhibitor of nuclear factor kappa B kinase complex ISO ClinVar Annotator: match by term: Bartsocas-Papas syndrome 2 OMIM
ClinVar		 PMID:25691407 NCBI chr 1:252,908,748...252,944,273
Ensembl chr 1:252,908,749...252,944,273 		JBrowse link
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome OMIM
ClinVar		 PMID:25488817 PMID:25527630 PMID:25741868 PMID:25792360 PMID:28170084 More... NCBI chr 1:104,496,447...104,513,061
Ensembl chr 1:104,496,447...104,512,391 		JBrowse link
Beare-Stevenson cutis gyrata syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO
ISS 		ClinVar Annotator: match by term: Beare-Stevenson cutis gyrata syndrome
OMIM:123790
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
Beaulieu-Boycott-Innes Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome ClinVar PMID:15241795 PMID:16571647 PMID:16905551 PMID:17701892 PMID:18435798 More... NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		JBrowse link
G Thoc6 THO complex subunit 6 ISO ClinVar Annotator: match by term: THOC6-related condition | ClinVar Annotator: match by term: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:21270786 PMID:23621916 PMID:25741868 More... NCBI chr10:13,204,643...13,210,004
Ensembl chr10:13,204,644...13,210,004 		JBrowse link
BILATERAL CLEFT LIP term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxc13 homeobox C13 ISO Ectodermal dysplasia-9 OMIA PMID:28011715 NCBI chr 7:135,937,126...135,943,962
Ensembl chr 7:135,937,126...135,943,283 		JBrowse link
G Plekha5 pleckstrin homology domain containing A5 ISO ClinVar Annotator: match by term: Bilateral cleft lip ClinVar PMID:25741868 NCBI chr 4:175,065,011...175,234,672
Ensembl chr 4:175,065,183...175,234,672 		JBrowse link
Birk-Barel syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnk9 potassium two pore domain channel subfamily K member 9 ISO ClinVar Annotator: match by term: Birk-Barel Intellectual Disability Dysmorphism Syndrome | ClinVar Annotator: match by term: Birk-Barel syndrome | ClinVar Annotator: match by term: KCNK9-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:18678320 PMID:23236211 PMID:25326635 PMID:25741868 PMID:27151206 More... NCBI chr 7:106,316,783...106,362,452
Ensembl chr 7:106,326,684...106,361,921 		JBrowse link
G Trpm3 transient receptor potential cation channel, subfamily M, member 3 ISO ClinVar Annotator: match by term: Mental retardation with hypotonia and facial dysmorphism ClinVar PMID:25741868 PMID:29539642 PMID:31278393 PMID:32343227 PMID:32427099 More... NCBI chr 1:229,099,741...229,984,172
Ensembl chr 1:229,099,542...229,984,172 		JBrowse link
blepharocheilodontic syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1 OMIM
ClinVar		 PMID:2449335 PMID:3028782 PMID:8075649 PMID:9537325 PMID:9744472 More... NCBI chr19:51,402,178...51,471,572
Ensembl chr19:51,402,034...51,471,565 		JBrowse link
blepharocheilodontic syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnd1 catenin delta 1 ISO OMIM NCBI chr 3:90,090,025...90,141,247
Ensembl chr 3:90,090,564...90,141,189 		JBrowse link
Bloom syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Blm BLM RecQ like helicase ISO
ISS 		ClinVar Annotator: match by term: BLM-related condition | ClinVar Annotator: match by term: Bloom syndrome | ClinVar Annotator: match by term: Bloom-Torre-Machacek syndrome
OMIM:210900
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:2678854 PMID:7585968 PMID:7799980 PMID:9285778 PMID:9388480 More... RGD:1580056, RGD:1599420 NCBI chr 1:143,819,072...143,905,300
Ensembl chr 1:143,819,090...143,905,210 		JBrowse link
G Nsmce2 NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase ISS OMIM:210900 MouseDO NCBI chr 7:92,825,568...93,071,037
Ensembl chr 7:92,825,587...93,054,326 		JBrowse link
G Ung uracil-DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2106500 NCBI chr12:48,145,838...48,154,789
Ensembl chr12:48,145,838...48,155,257 		JBrowse link
Bohring Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Bohring-Opitz syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:16412590 PMID:18414213 PMID:20880116 PMID:21576631 PMID:21706002 More... NCBI chr 3:162,273,828...162,341,742
Ensembl chr 3:162,273,828...162,341,742 		JBrowse link
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: Bohring-Opitz syndrome ClinVar PMID:25741868 NCBI chr 4:11,898,766...11,947,796
Ensembl chr 4:11,898,769...11,947,796 		JBrowse link
brachycephaly, trichomegaly, and developmental delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps23 ribosomal protein S23 ISO ClinVar Annotator: match by term: Brachycephaly, trichomegaly, and developmental delay OMIM
ClinVar		 PMID:25741868 PMID:28257692 NCBI chr 2:23,814,517...23,816,087
Ensembl chr 2:23,814,497...23,816,088 		JBrowse link
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmgb1 high mobility group box 1 ISO ClinVar Annotator: match by term: Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia ClinVar PMID:20661588 NCBI chr12:11,009,236...11,015,941
Ensembl chr16:39,039,050...39,041,327
Ensembl chr12:39,039,050...39,041,327 		JBrowse link
Braddock-Carey Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif15 kinesin family member 15 ISO ClinVar Annotator: match by term: Braddock-carey syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:28150392 NCBI chr 8:131,479,340...131,550,209
Ensembl chr 8:131,479,337...131,550,202 		JBrowse link
brain small vessel disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a2 collagen type IV alpha 2 chain susceptibility ISO ClinVar Annotator: match by term: COL4A2-related condition | ClinVar Annotator: match by term: COL4A2-related disorder | ClinVar Annotator: match by term: Porencephaly 2 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22209246 PMID:22209247 More... NCBI chr16:84,749,672...84,885,520
Ensembl chr16:84,749,672...84,885,520 		JBrowse link
Branchial Cleft Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: BRANCHIAL CLEFT ANOMALIES ClinVar PMID:22126750 PMID:22740433 PMID:22786791 PMID:25741868 PMID:27302555 More... NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:131,859,696...131,900,072 		JBrowse link
Burn-McKeown syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Txnl4a thioredoxin-like 4A ISO ClinVar Annotator: match by term: Burn-McKeown syndrome | ClinVar Annotator: match by term: TXNL4A-related condition
CTD Direct Evidence: marker/mechanism
DNA:missense mutations,deletions:promoter, cds:
DNA:deletions:promoter: 		OMIM
ClinVar
CTD
RGD		 PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More... RGD:11531484, RGD:155882456 NCBI chr18:75,934,085...75,949,873
Ensembl chr18:75,933,993...75,949,873 		JBrowse link
C syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd96 CD96 molecule ISO ClinVar Annotator: match by term: C syndrome | ClinVar Annotator: match by term: CD96-related condition OMIM
ClinVar		 PMID:16199547 PMID:17847009 PMID:25741868 PMID:28492532 PMID:34906502 More... NCBI chr11:68,164,926...68,239,266
Ensembl chr11:68,164,872...68,241,937 		JBrowse link
Cardioacrofacial Dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkaca protein kinase cAMP-activated catalytic subunit alpha ISO ClinVar Annotator: match by term: Cardioacrofacial dysplasia 1 | ClinVar Annotator: match by term: PRKACA-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33058759 PMID:33058795 NCBI chr19:41,059,843...41,083,189
Ensembl chr19:41,059,843...41,086,494 		JBrowse link
Cardioacrofacial Dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkacb protein kinase cAMP-activated catalytic subunit beta ISO ClinVar Annotator: match by term: Cardioacrofacial dysplasia 2 OMIM
ClinVar		 PMID:25741868 PMID:33058759 NCBI chr 2:238,297,140...238,389,317
Ensembl chr 2:238,300,127...238,386,315 		JBrowse link
Cardiofacioneurodevelopmental Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc32 coiled-coil domain containing 32 ISO ClinVar Annotator: match by term: Cardiofacioneurodevelopmental syndrome OMIM
ClinVar		 PMID:25741868 PMID:32307552 PMID:35451546 NCBI chr 3:126,452,293...126,464,845
Ensembl chr 3:126,452,304...126,472,778 		JBrowse link
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE ClinVar PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30016436 More... NCBI chr 3:30,786,443...30,795,374
Ensembl chr 3:30,786,443...30,795,374 		JBrowse link
Carey-Fineman-Ziter syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 1 OMIM
ClinVar		 PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30065953 More... NCBI chr 3:30,786,443...30,795,374
Ensembl chr 3:30,786,443...30,795,374 		JBrowse link
Carey-Fineman-Ziter syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mymx myomixer, myoblast fusion factor ISO
ISS 		OMIM:619941
ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2 		OMIM
MouseDO
ClinVar		 PMID:35642635 PMID:39668186 NCBI chr 9:22,894,524...22,895,701
Ensembl chr 9:22,894,524...22,895,701 		JBrowse link
Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Megf8 multiple EGF-like-domains 8 ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:201000 | OMIM:614976
ClinVar Annotator: match by term: Carpenter syndrome 		CTD
MouseDO
ClinVar		 NCBI chr 1:90,030,057...90,079,423
Ensembl chr 1:90,030,388...90,079,422 		JBrowse link
G Rab23 RAB23, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome 		CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17503333 PMID:17576681 PMID:20358613 More... NCBI chr 9:43,440,047...43,463,327
Ensembl chr 9:43,440,273...43,463,325 		JBrowse link
Carpenter syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag2 BAG cochaperone 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 1 | ClinVar Annotator: match by term: RAB23-related condition ClinVar NCBI chr 9:43,465,993...43,476,637
Ensembl chr 9:43,465,995...43,476,752 		JBrowse link
G Rab23 RAB23, member RAS oncogene family ISO
ISS 		OMIM:201000
ClinVar Annotator: match by term: Carpenter syndrome 1 | ClinVar Annotator: match by term: RAB23-related condition 		OMIM
MouseDO
ClinVar		 PMID:9536098 PMID:17503333 PMID:17576681 PMID:20358613 PMID:21412941 More... NCBI chr 9:43,440,047...43,463,327
Ensembl chr 9:43,440,273...43,463,325 		JBrowse link
Carpenter syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Megf8 multiple EGF-like-domains 8 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 | ClinVar Annotator: match by term: MEGF8-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23063620 PMID:25326635 More... NCBI chr 1:90,030,057...90,079,423
Ensembl chr 1:90,030,388...90,079,422 		JBrowse link
Catel Manzke syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kynu kynureninase ISO ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: MICROGNATHIA DIGITAL SYNDROME ClinVar PMID:25741868 PMID:31923704 PMID:33942433 NCBI chr 3:48,188,286...48,338,996
Ensembl chr 3:48,188,182...48,339,014 		JBrowse link
G Tgds TDP-glucose 4,6-dehydratase ISO
ISS 		OMIM:616145
ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: TGDS-related condition 		OMIM
MouseDO
ClinVar		 PMID:9777339 PMID:18501694 PMID:22887726 PMID:25480037 PMID:25741868 More... NCBI chr15:101,581,765...101,602,779
Ensembl chr15:101,582,227...101,602,718 		JBrowse link
CATIFA Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ric1 RIC1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Catifa syndrome | ClinVar Annotator: match by term: RIC1-related condition OMIM
ClinVar		 PMID:25741868 PMID:27878435 PMID:31932796 NCBI chr 1:236,698,901...236,798,099
Ensembl chr 1:236,698,852...236,798,099 		JBrowse link
CEBALID Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mn1 MN1 proto-oncogene, transcriptional regulator ISO ClinVar Annotator: match by term: CEBALID syndrome | ClinVar Annotator: match by term: MN1 C-TERMINAL TRUNCATION SYNDROME | ClinVar Annotator: match by term: MN1-related condition OMIM
ClinVar		 PMID:22451504 PMID:22965664 PMID:25741868 PMID:28135719 PMID:28330790 More... NCBI chr12:50,841,632...50,880,795
Ensembl chr12:50,841,632...50,880,795 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: CEBALID syndrome | ClinVar Annotator: match by term: CRANIOFACIAL DEFECTS, DYSMORPHIC EARS, STRUCTURAL BRAIN ABNORMALITIES, EXPRESSIVE LANGUAGE DELAY, AND IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: MN1 C-TERMINAL TRUNCATION SYNDROME ClinVar PMID:17360675 PMID:22729223 PMID:23322780 PMID:23636326 PMID:24625776 More... NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:164,167,928...164,277,435 		JBrowse link
Cerebellar, Ocular, Craniofacial, and Genital Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mab21l1 mab-21 like 1 ISO OMIM NCBI chr 2:142,093,618...142,096,007
Ensembl chr 2:142,093,618...142,096,007 		JBrowse link
cerebral cavernous malformation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccm2 CCM2 scaffold protein ISO
ISS 		ClinVar Annotator: match by term: CCM2-related condition | ClinVar Annotator: match by term: Cerebral cavernous malformation 2
OMIM:603284
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:2468908 PMID:9536098 PMID:14624391 PMID:14740320 PMID:15122722 More... NCBI chr14:85,632,338...85,678,016
Ensembl chr14:85,632,001...85,678,028 		JBrowse link
cerebral cavernous malformation 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdcd10 programmed cell death 10 onset
exacerbates 		ISO
ISS 		ClinVar Annotator: match by term: Cerebral cavernous malformation 3 | ClinVar Annotator: match by term: PDCD10-related disorder
DNA:deletion:CDS:c.506delA (human)
DNA:mutations:multiple (human)
DNA:SNPs:promoter: (rs9853967, rs11714980) (human)
DNA:nonsense mutation, frameshift mutations:CDS:multiple (human)
DNA:mutations:SNPs, duplications, deletions:multiple (human)
DNA:deletions, nonsense mutations:multiple (human)
OMIM:603285
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:15543491 PMID:16199547 PMID:16329096 PMID:16380626 More... RGD:401827173, RGD:401827115, RGD:401827114, RGD:401827108, RGD:401827103, RGD:401827102, RGD:329961304 NCBI chr 2:162,602,516...162,644,690
Ensembl chr 2:162,602,516...162,644,612 		JBrowse link
cerebrocostomandibular syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snrpb small nuclear ribonucleoprotein polypeptides B and B1 ISO
ISS 		ClinVar Annotator: match by term: Cerebro-costo-mandibular syndrome | ClinVar Annotator: match by term: SNRPB-related condition
OMIM:117650
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:CDS:multiple (human) 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:25047197 PMID:25504470 PMID:25741868 PMID:26240113 PMID:26971886 More... RGD:155641254 NCBI chr 3:137,824,870...137,832,479
Ensembl chr 3:137,824,683...137,832,515 		JBrowse link
cerebrooculofacioskeletal syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO DNA:missense mutations:p.R616W, p.D681N (human)
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM
RGD		 PMID:3341805 PMID:7585650 PMID:7825573 PMID:7920640 PMID:8571952 More... RGD:1601070 NCBI chr 1:88,161,342...88,175,102
Ensembl chr 1:88,160,988...88,175,102 		JBrowse link
cerebrooculofacioskeletal syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 | ClinVar Annotator: match by term: ERCC1-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:17273966 PMID:23623389 PMID:25741868 PMID:28492532 PMID:33315086 NCBI chr 1:88,099,308...88,135,966
Ensembl chr 1:88,118,891...88,139,120 		JBrowse link
cherubism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 2:176,478,616...176,493,269
Ensembl chr 2:176,478,596...176,494,684 		JBrowse link
G Sh3bp2 SH3-domain binding protein 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fibrous dysplasia of jaw 		CTD
ClinVar		 PMID:9536098 PMID:11381256 PMID:12900899 PMID:14577811 PMID:15507112 More... NCBI chr14:80,400,685...80,437,887
Ensembl chr14:80,400,685...80,437,906 		JBrowse link
cherubism 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sh3bp2 SH3-domain binding protein 2 ISO
ISS 		ClinVar Annotator: match by term: SH3BP2-related disorder
OMIM:118400 		ClinVar
MouseDO
OMIM
RGD		 PMID:9536098 PMID:11381256 PMID:12900899 PMID:17321449 PMID:17576681 More... RGD:1599339 NCBI chr14:80,400,685...80,437,887
Ensembl chr14:80,400,685...80,437,906 		JBrowse link
CHITAYAT SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Chitayat syndrome OMIM
ClinVar		 PMID:8418638 PMID:23354439 PMID:25741868 PMID:26097063 PMID:27738187 More... NCBI chr 1:89,957,760...89,966,213
Ensembl chr 1:89,957,760...89,966,213 		JBrowse link
Christianson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:15499549 PMID:16015284 PMID:16813600 PMID:18414213 PMID:19241098 More... NCBI chr  X:37,566,320...37,796,766
Ensembl chr  X:37,566,378...37,796,760 		JBrowse link
G Hivep2 HIVEP zinc finger 2 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:25741868 NCBI chr 1:10,176,880...10,376,089
Ensembl chr 1:10,179,402...10,376,089 		JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO
ISS 		ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE | ClinVar Annotator: match by term: SLC9A6-related condition
ClinVar Annotator: match by term: Angelman syndrome-like | ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE | ClinVar Annotator: match by term: SLC9A6-related condition
ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE | ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type
OMIM:300243
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:10528855 PMID:15319456 PMID:15358621 PMID:16019685 More... NCBI chr  X:139,468,045...139,524,111
Ensembl chr  X:139,458,127...139,524,109 		JBrowse link
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: VAN ASPEREN SYNDROME ClinVar PMID:7655472 PMID:10678181 PMID:10712197 PMID:16199547 PMID:17311297 More... NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,804,266...65,034,946 		JBrowse link
G Rnf135 ring finger protein 135 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome 		CTD
ClinVar		 PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More... NCBI chr10:65,668,441...65,687,671 JBrowse link
chromosome 1q21.1 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja5 gap junction protein, alpha 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome 		CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 2:187,291,227...187,310,770
Ensembl chr 2:187,234,674...187,318,512 		JBrowse link
G Gja8 gap junction protein, alpha 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 1q21.1 Deletion | ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome 		CTD
ClinVar		 PMID:25741868 PMID:26694549 PMID:28492532 PMID:28827829 PMID:29464339 NCBI chr 2:187,179,668...187,181,284
Ensembl chr 2:187,175,507...187,186,167 		JBrowse link
chromosome 1q41-q42 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53bp2 tumor protein p53 binding protein, 2 ISS OMIM:612530 MouseDO NCBI chr13:96,620,429...96,677,090
Ensembl chr13:96,620,428...96,677,616 		JBrowse link
chromosome 22q11.2 deletion syndrome, distal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:28492532 NCBI chr10:13,886,948...13,944,286
Ensembl chr10:13,887,083...13,944,285 		JBrowse link
chromosome 2p16.1-p15 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Usp34 ubiquitin specific peptidase 34 ISO ClinVar Annotator: match by term: Chromosome 2p16.1-p15 deletion syndrome ClinVar NCBI chr14:101,487,110...101,677,519
Ensembl chr14:101,487,153...101,678,632 		JBrowse link
CK syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsdhl NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO ClinVar Annotator: match by term: CK syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH THIN BODY HABITUS AND CORTICAL MALFORMATION OMIM
ClinVar		 PMID:18414213 PMID:19377476 PMID:21129721 PMID:21290788 PMID:25741868 More... NCBI chr  X:155,817,301...155,848,224
Ensembl chr  X:155,817,340...155,848,220 		JBrowse link
cleft lip term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chr 2:212,849,470...212,986,730
Ensembl chr 2:212,755,803...212,986,729 		JBrowse link
G Adamts20 ADAM metallopeptidase with thrombospondin type 1 motif, 20 ISO Cleft lip with or without cleft palate, ADAMTS20-related OMIA PMID:13875838 PMID:25798845 PMID:28738009 PMID:28887848 PMID:34838248 NCBI chr 7:127,275,538...127,407,325
Ensembl chr 7:127,275,538...127,407,296 		JBrowse link
G Arhgap29 Rho GTPase activating protein 29 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate ClinVar PMID:25741868 NCBI chr 2:212,744,626...212,816,710
Ensembl chr 2:212,755,803...212,986,729 		JBrowse link
G Bhmt2 betaine-homocysteine S-methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 2:26,630,502...26,647,450
Ensembl chr 2:26,630,510...26,651,326 		JBrowse link
G Bmp4 bone morphogenetic protein 4 susceptibility ISO DNA:polymorphism:cds:p.V152A(human)
DNA:SNP: : rs17563 (p.V152A)(human)
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant 		ClinVar
RGD		 PMID:12404109 PMID:18771417 PMID:19249007 PMID:19557432 PMID:23227324 More... RGD:13442495, RGD:13442497 NCBI chr15:22,098,191...22,113,145
Ensembl chr15:22,098,470...22,105,172 		JBrowse link
G Cdh1 cadherin 1 susceptibility ISO DNA:splice-site mutation: :531+2T>A (human)
ClinVar Annotator: match by term: Cleft lip with or without cleft palate 		ClinVar
RGD		 PMID:25741868 PMID:26123647 PMID:28492532 PMID:29348693 PMID:29805042 More... RGD:1599548 NCBI chr19:51,402,178...51,471,572
Ensembl chr19:51,402,034...51,471,565 		JBrowse link
G Esrp2 epithelial splicing regulatory protein 2 ISO ClinVar Annotator: match by term: Cleft lip with or without cleft palate ClinVar PMID:29805042 NCBI chr19:50,944,401...50,951,919
Ensembl chr19:50,944,401...50,951,568 		JBrowse link
G Fgf1 fibroblast growth factor 1 ISO DNA:SNP: :rs34010 (human) RGD PMID:24613087 RGD:11567264 NCBI chr18:30,937,670...31,023,786
Ensembl chr18:30,939,870...30,961,393 		JBrowse link
G Fgf10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 2:52,533,939...52,610,980
Ensembl chr 2:52,533,939...52,610,980 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:122,164,454...122,224,493 		JBrowse link
G Fgf3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 1:209,430,457...209,434,832
Ensembl chr 1:209,430,457...209,434,832 		JBrowse link
G Fgf7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 3:133,734,557...133,786,678
Ensembl chr 3:133,734,673...133,786,328 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 1:254,533,504...254,539,605
Ensembl chr 1:254,533,504...254,539,605 		JBrowse link
G Fgf9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr15:36,325,552...36,369,995
Ensembl chr15:36,325,599...36,367,926 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs13317 (human) 		CTD
RGD		 PMID:17963255 PMID:24613087 RGD:11567264 NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		JBrowse link
G Gdf6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 5:27,793,561...27,809,884
Ensembl chr 5:27,793,552...27,811,825 		JBrowse link
G Irf6 interferon regulatory factor 6 ISO
ISS 		van der Woude syndrome, OMIM:119300
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant 		CTD
MouseDO
ClinVar
RGD		 PMID:17041601 PMID:18836445 PMID:20436469 PMID:25741868 PMID:28492532 More... RGD:1600214 NCBI chr13:107,200,876...107,220,083
Ensembl chr13:107,200,731...107,220,049 		JBrowse link
G Kif7 kinesin family member 7 ISO DNA:SNPs:introns:rs4932238,rs4932240(human) RGD PMID:26602496 RGD:11553833 NCBI chr 1:143,041,206...143,067,873
Ensembl chr 1:143,049,036...143,067,890 		JBrowse link
G Mafb MAF bZIP transcription factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chr 3:169,417,890...169,419,810
Ensembl chr 3:169,416,945...169,419,975 		JBrowse link
G Msx1 msh homeobox 1 ISO DNA:mutations, SNPs:multiple (human) RGD PMID:12807959 RGD:5132609 NCBI chr14:77,185,802...77,189,735
Ensembl chr14:77,185,802...77,189,735 		JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility
no_association 		ISO DNA:SNP:cds:1958G>A(human) RGD PMID:25129243 PMID:18261183 RGD:12910961, RGD:12910962 NCBI chr 6:100,713,510...100,781,013
Ensembl chr 6:100,713,681...100,781,957 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :c.677C>T(human) 		CTD
RGD		 PMID:16470725 PMID:27387868 RGD:11565179 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105 		JBrowse link
G Mthfs methenyltetrahydrofolate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 8:98,609,410...98,681,901
Ensembl chr 8:98,609,399...98,752,036 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr17:62,911,705...62,996,544
Ensembl chr17:62,911,771...62,996,541 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:95,483,105...95,488,028 		JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 RGD PMID:10932188 RGD:1599795 NCBI chr 8:52,998,662...53,061,745
Ensembl chr 8:52,998,662...53,086,664 		JBrowse link
G Nog noggin susceptibility ISO DNA:SNP: :rs227731(human)
DNA:SNP: : rs227727 (human) 		RGD PMID:25339627 PMID:25704602 RGD:12801482, RGD:11251786 NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,625,875...74,628,103 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:11,686,268...11,706,664 		JBrowse link
G Ntn1 netrin 1 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate ClinVar NCBI chr10:53,398,852...53,597,595
Ensembl chr10:53,398,852...53,584,060 		JBrowse link
G Plekha5 pleckstrin homology domain containing A5 ISO ClinVar Annotator: match by term: Cleft lip with or without cleft palate ClinVar PMID:29805042 NCBI chr 4:175,065,011...175,234,672
Ensembl chr 4:175,065,183...175,234,672 		JBrowse link
G Plekha7 pleckstrin homology domain containing A7 ISO ClinVar Annotator: match by term: Cleft lip with or without cleft palate ClinVar PMID:29805042 NCBI chr 1:179,798,856...179,982,155
Ensembl chr 1:179,799,040...179,982,281 		JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO associated with Walker-Warburg Syndrome;DNA:insertion, deletion:exon RGD PMID:18640039 RGD:11532685 NCBI chr 3:35,918,370...35,936,330
Ensembl chr 3:35,918,188...35,936,364 		JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,548,449...1,613,461 		JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO ClinVar Annotator: match by term: Cleft lip ClinVar PMID:25741868 NCBI chr17:12,124,749...12,300,044
Ensembl chr17:12,124,749...12,300,044 		JBrowse link
G Sdc2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 7:66,012,405...66,125,101
Ensembl chr 7:66,108,853...66,126,294 		JBrowse link
G Slc19a1 solute carrier family 19 member 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :80G>A(human) 		CTD
RGD		 PMID:21254359 PMID:18797703 RGD:11565176 NCBI chr20:11,583,928...11,601,959
Ensembl chr20:11,583,929...11,601,488 		JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr15:89,106,809...89,111,926
Ensembl chr15:89,103,731...89,115,074 		JBrowse link
G Sumo1 small ubiquitin-like modifier 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant 		CTD
ClinVar		 PMID:16990542 NCBI chr 9:68,572,901...68,602,803
Ensembl chr 9:68,572,911...68,602,890 		JBrowse link
G Tcn2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16470748 NCBI chr14:83,036,935...83,052,187
Ensembl chr14:83,036,935...83,051,552 		JBrowse link
G Tp63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant 		CTD
ClinVar		 PMID:16688749 PMID:25741868 NCBI chr11:88,343,647...88,554,543
Ensembl chr11:88,343,651...88,554,177 		JBrowse link
G Tyms thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 9:120,760,057...120,776,149
Ensembl chr 9:120,763,386...120,776,097 		JBrowse link
G Zfp462 zinc finger protein 462 ISO ClinVar Annotator: match by term: Cleft lip ClinVar PMID:25741868 NCBI chr 5:74,465,383...74,606,020
Ensembl chr 5:74,468,643...74,606,020 		JBrowse link
CLEFT LIP AND PALATE-CRANIOFACIAL DYSMORPHISM-CONGENITAL HEART DEFECT-HEARING LOSS SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyal2 hyaluronidase 2 ISO ClinVar Annotator: match by term: Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome ClinVar PMID:25741868 NCBI chr 8:117,121,802...117,125,494
Ensembl chr 8:117,121,787...117,125,493 		JBrowse link
Cleft Lip with or without Cleft Palate, Nonsyndromic, 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tox3 TOX high mobility group box family member 3 ISO DNA:CNV:Chr.16:52503999, 16q12.1, Hs03924205_cn RGD PMID:30924295 RGD:617154584 NCBI chr19:32,820,957...32,929,776
Ensembl chr19:32,820,977...32,929,776 		JBrowse link
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Cleft lip with or without cleft palate, nonsyndromic, 8 ClinVar PMID:9536098 PMID:10535733 PMID:10839977 PMID:11462173 PMID:12161593 More... NCBI chr11:88,343,647...88,554,543
Ensembl chr11:88,343,651...88,554,177 		JBrowse link
cleft lip-palate-ectodermal dysplasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar Annotator: match by term: NECTIN1-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 More... NCBI chr 8:52,998,662...53,061,745
Ensembl chr 8:52,998,662...53,086,664 		JBrowse link
cleft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amer1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 NCBI chr  X:64,310,492...64,326,377
Ensembl chr  X:64,300,953...64,326,332 		JBrowse link
G Bhmt2 betaine-homocysteine S-methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 2:26,630,502...26,647,450
Ensembl chr 2:26,630,510...26,651,326 		JBrowse link
G Bnc2 basonuclin zinc finger protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19706529 NCBI chr 5:103,724,934...104,061,890
Ensembl chr 5:103,724,934...104,125,428 		JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO CTD Direct Evidence: marker/mechanism
DNA:insertion 		CTD
RGD		 PMID:9787075 PMID:9787075 RGD:11576291 NCBI chr  X:11,572,328...11,915,831
Ensembl chr  X:11,572,636...11,911,948 		JBrowse link
G Cbfb core-binding factor subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17022082 NCBI chr19:49,955,133...50,002,661
Ensembl chr19:49,959,096...50,002,657 		JBrowse link
G Cdc42 cell division cycle 42 ISS MouseDO NCBI chr 5:154,838,478...154,876,629
Ensembl chr 5:154,839,631...154,876,627 		JBrowse link
G Chuk component of inhibitor of nuclear factor kappa B kinase complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:10346820 NCBI chr 1:252,908,748...252,944,273
Ensembl chr 1:252,908,749...252,944,273 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO DNA:SNPs, haplotypes: :multiple
DNA:SNPs, haplotypes: :rs3129208 (human) 		RGD PMID:20672350 PMID:22112025 RGD:12436724, RGD:12904711 NCBI chr20:4,788,829...4,818,492
Ensembl chr20:4,788,829...4,817,648 		JBrowse link
G Col2a1 collagen type II alpha 1 chain susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP,haplotype:intron:rs1793949(human) 		CTD
RGD		 PMID:15562585 PMID:20672350 RGD:12436724 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:130,977,561...131,006,627 		JBrowse link
G Dlg1 discs large MAGUK scaffold protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11238884 NCBI chr11:82,416,853...82,607,797
Ensembl chr11:82,416,853...82,607,797 		JBrowse link
G Egf epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11399798 NCBI chr 2:220,893,660...220,976,331
Ensembl chr 2:220,893,660...220,976,297 		JBrowse link
G Fgf10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 2:52,533,939...52,610,980
Ensembl chr 2:52,533,939...52,610,980 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:122,164,454...122,224,493 		JBrowse link
G Fgf3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 1:209,430,457...209,434,832
Ensembl chr 1:209,430,457...209,434,832 		JBrowse link
G Fgf7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 3:133,734,557...133,786,678
Ensembl chr 3:133,734,673...133,786,328 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 1:254,533,504...254,539,605
Ensembl chr 1:254,533,504...254,539,605 		JBrowse link
G Fgf9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr15:36,325,552...36,369,995
Ensembl chr15:36,325,599...36,367,926 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 PMID:29526646 NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:3265608 PMID:6019437 PMID:11704759 PMID:11992261 PMID:12612583 More... NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
G Flnb filamin B susceptibility ISO DNA:SNPs:: RGD PMID:20634891 RGD:12791026 NCBI chr15:19,392,212...19,525,278
Ensembl chr15:19,392,216...19,525,209 		JBrowse link
G Fzd4 frizzled class receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chr 1:152,692,507...152,701,372
Ensembl chr 1:152,692,507...152,701,372 		JBrowse link
G Gata6 GATA binding protein 6 ISO protein:decreased expression:secondary palatal shelf (mouse) RGD PMID:27391658 RGD:13208933 NCBI chr18:2,460,909...2,492,322
Ensembl chr18:2,458,253...2,492,322 		JBrowse link
G Gdf6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 5:27,793,561...27,809,884
Ensembl chr 5:27,793,552...27,811,825 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO RGD PMID:18816854 RGD:12738224 NCBI chr17:54,134,064...54,405,198
Ensembl chr17:54,134,064...54,405,198 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chr 5:171,357,778...171,424,489
Ensembl chr 5:171,357,797...171,424,488 		JBrowse link
G Golgb1 golgin B1 ISS MouseDO NCBI chr11:77,348,573...77,406,165
Ensembl chr11:77,348,961...77,406,006 		JBrowse link
G Grhl3 grainyhead-like transcription factor 3 ISO ClinVar Annotator: match by term: nonsyndromic cleft palate ClinVar NCBI chr 5:153,057,760...153,089,890
Ensembl chr 5:153,057,760...153,089,890 		JBrowse link
G Inpp1 inositol polyphosphate-1-phosphatase ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr 9:56,161,816...56,209,774
Ensembl chr 9:56,161,852...56,234,569 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:15786477 PMID:19668216 PMID:25741868 PMID:26748598 PMID:27401686 More... NCBI chr 3:29,614,868...29,627,542
Ensembl chr 3:29,614,868...29,627,542 		JBrowse link
G Irf6 interferon regulatory factor 6 ISO van der Woude syndrome, OMIM:119300
DNA:SNPs, haplotype: :rs9430018, rs17389541 (human)
ClinVar Annotator: match by term: Cleft palate
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:12920575 PMID:17041601 PMID:25741868 PMID:12219090 PMID:20672350 RGD:1600214, RGD:12436724 NCBI chr13:107,200,876...107,220,083
Ensembl chr13:107,200,731...107,220,049 		JBrowse link
G Kif7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21552264 NCBI chr 1:143,041,206...143,067,873
Ensembl chr 1:143,049,036...143,067,890 		JBrowse link
G Meg3 maternally expressed 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33812962 NCBI chr 6:134,274,056...134,306,249 JBrowse link
G Meis2 Meis homeobox 2 ISO DNA:mutations:cds:multiples
ClinVar Annotator: match by term: Cleft palate 		ClinVar
RGD		 PMID:25741868 PMID:30291340 RGD:155598678 NCBI chr 3:123,197,066...123,399,002
Ensembl chr 3:123,197,066...123,397,751 		JBrowse link
G Mnt MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr10:60,197,654...60,213,221
Ensembl chr10:60,197,948...60,213,209 		JBrowse link
G Msx1 msh homeobox 1 ISO DNA:mutations, SNPs:multiple (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:12163415 PMID:12701100 PMID:15301380 PMID:12807959 RGD:5132609 NCBI chr14:77,185,802...77,189,735
Ensembl chr14:77,185,802...77,189,735 		JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO DNA:SNP:cds:1958 G>A (rs2236225)(human) RGD PMID:18661527 RGD:12914151 NCBI chr 6:100,713,510...100,781,013
Ensembl chr 6:100,713,681...100,781,957 		JBrowse link
G Mthfs methenyltetrahydrofolate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 8:98,609,410...98,681,901
Ensembl chr 8:98,609,399...98,752,036 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr17:62,911,705...62,996,544
Ensembl chr17:62,911,771...62,996,541 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:95,483,105...95,488,028 		JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 RGD PMID:10932188 RGD:1599795 NCBI chr 8:52,998,662...53,061,745
Ensembl chr 8:52,998,662...53,086,664 		JBrowse link
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr18:60,663,918...60,996,824
Ensembl chr18:60,663,970...60,996,824 		JBrowse link
G Nek9 NIMA-related kinase 9 ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr 6:110,675,107...110,715,586
Ensembl chr 6:110,675,107...110,715,586 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:11,686,268...11,706,664 		JBrowse link
G Pax9 paired box 9 ISO RGD PMID:17097601 RGD:12801424 NCBI chr 6:79,917,466...79,938,551
Ensembl chr 6:79,921,801...79,938,549 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: nonsyndromic cleft palate 		CTD
ClinVar		 PMID:18264099 PMID:22473090 PMID:24728327 PMID:25741868 PMID:27153395 More... NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,360,028...33,408,516 		JBrowse link
G Pitx2 paired-like homeodomain 2 ISO RGD PMID:12975342 RGD:12910559 NCBI chr 2:220,391,417...220,411,588
Ensembl chr 2:220,391,888...220,411,591 		JBrowse link
G Prmt1 protein arginine methyltransferase 1 ISS MouseDO NCBI chr 1:104,595,339...104,605,552
Ensembl chr 1:104,595,335...104,604,827 		JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,548,449...1,613,461 		JBrowse link
G Rarg retinoic acid receptor, gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21807577 NCBI chr 7:135,246,427...135,268,889
Ensembl chr 7:135,246,427...135,268,889 		JBrowse link
G Rere arginine-glutamic acid dipeptide repeats ISO RGD PMID:33772547 RGD:329849004 NCBI chr 5:166,048,770...166,380,559
Ensembl chr 5:166,048,844...166,380,558 		JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 susceptibility ISO DNA:SNPs: :rs7858435, rs10820914, and rs3905385(human) RGD PMID:22490406 RGD:11535950 NCBI chr17:12,124,749...12,300,044
Ensembl chr17:12,124,749...12,300,044 		JBrowse link
G Ryk receptor-like tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10932185 NCBI chr 8:112,298,158...112,370,912
Ensembl chr 8:112,298,369...112,370,908 		JBrowse link
G Satb2 SATB homeobox 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft palate 		CTD
ClinVar		 PMID:16960803 PMID:17377962 PMID:19170718 PMID:23925499 PMID:24301056 More... NCBI chr 9:65,842,351...66,028,569
Ensembl chr 9:65,844,570...66,021,238 		JBrowse link
G Sdc2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 7:66,012,405...66,125,101
Ensembl chr 7:66,108,853...66,126,294 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:17097601 RGD:12801424 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:7,687,846...7,697,901 		JBrowse link
G Shox2 SHOX homeobox 2 ISO RGD PMID:16141225 RGD:12859081 NCBI chr 2:153,524,324...153,537,571
Ensembl chr 2:153,527,571...153,537,161 		JBrowse link
G Sim2 SIM bHLH transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12203729 NCBI chr11:46,883,859...46,923,305
Ensembl chr11:46,883,859...46,923,305 		JBrowse link
G Six2 SIX homeobox 2 ISS MouseDO NCBI chr 6:14,727,756...14,734,219
Ensembl chr 6:14,727,859...14,731,941 		JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr20:11,583,928...11,601,959
Ensembl chr20:11,583,929...11,601,488 		JBrowse link
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:22426308 PMID:25741868 PMID:28973083 PMID:32686290 PMID:33461977 More... NCBI chr 8:28,438,370...28,535,071
Ensembl chr 8:28,443,810...28,535,070 		JBrowse link
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISS MouseDO NCBI chr20:13,337,399...13,443,080
Ensembl chr20:13,339,108...13,443,079 		JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr15:89,106,809...89,111,926
Ensembl chr15:89,103,731...89,115,074 		JBrowse link
G Sumo1 small ubiquitin-like modifier 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16990542 NCBI chr 9:68,572,901...68,602,803
Ensembl chr 9:68,572,911...68,602,890 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO RGD PMID:30121012 PMID:25556186 RGD:155631306, RGD:155641231 NCBI chr11:95,913,610...95,923,392
Ensembl chr11:95,913,610...95,923,392 		JBrowse link
G Tbx22 T-box transcription factor 22 ISO cleft palate with ankyloglossia, OMIM:303400 RGD PMID:12374769 RGD:724722 NCBI chr  X:76,796,398...76,847,447
Ensembl chr  X:76,825,005...76,847,443 		JBrowse link
G Tenm4 teneurin transmembrane protein 4 ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr 1:157,699,611...160,674,549
Ensembl chr 1:159,974,017...160,674,549 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr13:100,691,540...100,793,227
Ensembl chr13:100,692,953...100,792,856 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:7493022 PMID:26971374 PMID:17097601 RGD:12801424 NCBI chr 6:111,435,170...111,457,646
Ensembl chr 6:111,435,170...111,456,946 		JBrowse link
G Tp63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11462173 NCBI chr11:88,343,647...88,554,543
Ensembl chr11:88,343,651...88,554,177 		JBrowse link
G Tyms thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 9:120,760,057...120,776,149
Ensembl chr 9:120,763,386...120,776,097 		JBrowse link
Cleft Palate with Ankyloglossia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx22 T-box transcription factor 22 ISO ClinVar Annotator: match by term: Cleft palate with ankyloglossia ClinVar PMID:2563678 PMID:11559848 PMID:12374769 PMID:14729838 PMID:22784330 NCBI chr  X:76,796,398...76,847,447
Ensembl chr  X:76,825,005...76,847,443 		JBrowse link
cleft palate, cardiac defects, and intellectual disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Meis2 Meis homeobox 2 ISO ClinVar Annotator: match by term: Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | ClinVar Annotator: match by term: MEIS2-related disorder
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:24678003 PMID:25712757 PMID:25741868 More... NCBI chr 3:123,197,066...123,399,002
Ensembl chr 3:123,197,066...123,397,751 		JBrowse link
Cleft Palate, Proliferative Retinopathy, and Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrc32 leucine rich repeat containing 32 ISO ClinVar Annotator: match by term: Cleft palate, proliferative retinopathy, and developmental delay OMIM
ClinVar		 PMID:25741868 PMID:30976112 NCBI chr 1:162,196,995...162,209,563
Ensembl chr 1:162,197,653...162,209,563 		JBrowse link
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdm1a lysine demethylase 1A ISO ClinVar Annotator: match by term: Cleft palate, psychomotor retardation, and distinctive facial features | ClinVar Annotator: match by term: Neurodevelopmental and congenital anomalies OMIM
ClinVar		 PMID:23020937 PMID:24838796 PMID:25741868 PMID:26656649 PMID:27094131 More... NCBI chr 5:154,066,436...154,121,913
Ensembl chr 5:154,065,543...154,121,775 		JBrowse link
cleft palate-lateral synechia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISS OMIM:119550 MouseDO NCBI chr15:22,098,191...22,113,145
Ensembl chr15:22,098,470...22,105,172 		JBrowse link
cleft soft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISO ClinVar Annotator: match by term: Cleft soft palate ClinVar PMID:22689593 PMID:25238597 PMID:25741868 PMID:28492532 PMID:29177700 More... NCBI chr 8:101,964,318...102,047,022
Ensembl chr 8:101,964,318...102,047,022 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISS OMIM:119570 MouseDO NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:124,674,986...124,761,469 		JBrowse link
cleidocranial dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO ClinVar Annotator: match by term: Large fontanelles ClinVar PMID:25741868 PMID:35005812 NCBI chr19:69,426,540...69,447,017
Ensembl chr19:69,421,638...69,446,944 		JBrowse link
G Cbfb core-binding factor subunit beta ISS OMIM:119600 | OMIM:216330 MouseDO NCBI chr19:49,955,133...50,002,661
Ensembl chr19:49,959,096...50,002,657 		JBrowse link
G Runx2 RUNX family transcription factor 2 treatment ISO
ISS 		DNA:insertion, point mutation:exon:p.W283X (human)
ClinVar Annotator: match by term: CLEIDOCRANIAL DYSPLASIA 1 | ClinVar Annotator: match by term: Cleidocranial Dysplasia | ClinVar Annotator: match by term: Cleidocranial dysostosis | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, dental anomalies only | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, with brachydactyly
OMIM:119600 | OMIM:216330
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9182765 PMID:9207800 PMID:10521292 PMID:10545612 PMID:10980549 More... RGD:1601649, RGD:598092519 NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:23,664,952...23,990,027 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO RGD PMID:25209980 RGD:155641242 NCBI chr11:95,913,610...95,923,392
Ensembl chr11:95,913,610...95,923,392 		JBrowse link
Cleidocranial Dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbfb core-binding factor subunit beta ISO ClinVar Annotator: match by term: Cleidocranial dysplasia 2 OMIM
ClinVar		 PMID:25741868 PMID:36241386 NCBI chr19:49,955,133...50,002,661
Ensembl chr19:49,959,096...50,002,657 		JBrowse link
CODAS syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lonp1 lon peptidase 1, mitochondrial ISO ClinVar Annotator: match by term: CEREBRAL, OCULAR, DENTAL, AURICULAR, AND SKELETAL ANOMALIES SYNDROME | ClinVar Annotator: match by term: CODAS syndrome | ClinVar Annotator: match by term: LONP1-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1887855 PMID:5574826 PMID:9536098 PMID:17576681 PMID:25574826 More... NCBI chr 9:1,534,581...1,546,908
Ensembl chr 9:1,534,584...1,547,427 		JBrowse link
Coffin-Siris syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin-Siris syndrome 		CTD
ClinVar
MouseDO		 PMID:22426308 PMID:25741868 PMID:28492532 NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:151,192,014...151,265,386 		JBrowse link
G Arid1b AT-rich interaction domain 1B ISO DNA:frameshift,nonsense mutations, haploinsufficiency:cds:
ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability | ClinVar Annotator: match by term: Coffin-Siris syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:18414213 PMID:22426308 PMID:22426309 PMID:24033266 PMID:25741868 More... RGD:11526783 NCBI chr 1:47,973,199...48,328,793
Ensembl chr 1:47,973,997...48,328,793 		JBrowse link
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 NCBI chr 7:129,326,371...129,443,813
Ensembl chr 7:129,324,137...129,443,187 		JBrowse link
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 NCBI chr 1:212,612,986...212,628,376
Ensembl chr 1:212,612,986...212,628,289 		JBrowse link
G Kdm8 lysine demethylase 8 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 NCBI chr 1:189,444,527...189,459,507
Ensembl chr 1:189,444,555...189,459,491 		JBrowse link
G Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability 		CTD
ClinVar		 PMID:18414213 PMID:22426308 PMID:28512736 NCBI chr 1:233,617,277...233,784,908
Ensembl chr 1:233,617,366...233,784,869 		JBrowse link
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin-Siris syndrome 		CTD
ClinVar		 PMID:15756273 PMID:18414213 PMID:18437052 PMID:21280140 PMID:22426308 More... NCBI chr 8:28,438,370...28,535,071
Ensembl chr 8:28,443,810...28,535,070 		JBrowse link
G Smarcb1 SWI/SNF related BAF chromatin remodeling complex subunit B1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin-Siris syndrome 		CTD
ClinVar		 PMID:10521299 PMID:16199547 PMID:18285426 PMID:18647326 PMID:21108436 More... NCBI chr20:12,740,105...12,763,054
Ensembl chr20:12,740,943...12,763,055 		JBrowse link
G Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22426308 NCBI chr10:84,655,468...84,678,259
Ensembl chr10:84,655,468...84,676,185 		JBrowse link
G Sox11 SRY-box transcription factor 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin-Siris syndrome 		CTD
ClinVar		 PMID:25741868 PMID:26543203 NCBI chr 6:49,736,773...49,738,794
Ensembl chr 6:49,736,304...49,738,691 		JBrowse link
Coffin-Siris syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 ClinVar PMID:22426308 PMID:25168959 PMID:25741868 PMID:28492532 NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:151,192,014...151,265,386 		JBrowse link
G Arid1b AT-rich interaction domain 1B ISO
ISS 		ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: ARID1B-related disorder | ClinVar Annotator: match by term: Coffin-Siris syndrome 1
ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES
OMIM:135900
ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 		OMIM
ClinVar
MouseDO		 PMID:1724113 PMID:9536098 PMID:10361086 PMID:15057123 PMID:16199547 More... NCBI chr 1:47,973,199...48,328,793
Ensembl chr 1:47,973,997...48,328,793 		JBrowse link
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 NCBI chr 7:129,326,371...129,443,813
Ensembl chr 7:129,324,137...129,443,187 		JBrowse link
G Arsl arylsulfatase L ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:7720070 PMID:9863597 PMID:18348268 PMID:20301713 PMID:23470839 More... NCBI chr 2:120,966,992...120,975,015
Ensembl chr 2:120,966,950...120,975,011 		JBrowse link
G Bicra BRD4 interacting chromatin remodeling complex associated protein ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 NCBI chr 1:85,790,093...85,867,656
Ensembl chr 1:85,790,093...85,864,306 		JBrowse link
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 PMID:29429572 NCBI chr 1:212,612,986...212,628,376
Ensembl chr 1:212,612,986...212,628,289 		JBrowse link
G Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:22366787 PMID:22426308 PMID:22426309 PMID:25724810 PMID:25741868 NCBI chr 1:233,617,277...233,784,908
Ensembl chr 1:233,617,366...233,784,869 		JBrowse link
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 NCBI chr 8:28,438,370...28,535,071
Ensembl chr 8:28,443,810...28,535,070 		JBrowse link
G Smarcc2 SWI/SNF related BAF chromatin remodeling complex subunit C2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 NCBI chr 7:1,466,223...1,494,627
Ensembl chr 7:1,466,454...1,494,626 		JBrowse link
G Sox4 SRY-box transcription factor 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 NCBI chr17:35,876,298...35,881,004
Ensembl chr17:35,875,756...35,884,024 		JBrowse link
Coffin-Siris syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox4 SRY-box transcription factor 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 10 | ClinVar Annotator: match by term: SOX4-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30661772 PMID:35232796 PMID:35887114 More... NCBI chr17:35,876,298...35,881,004
Ensembl chr17:35,875,756...35,884,024 		JBrowse link
Coffin-Siris syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcd1 SWI/SNF related BAF chromatin remodeling complex subunit D1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 11 OMIM
ClinVar		 PMID:25741868 PMID:30879640 NCBI chr 7:132,708,627...132,719,167
Ensembl chr 7:132,708,432...132,719,167 		JBrowse link
Coffin-Siris syndrome 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bicra BRD4 interacting chromatin remodeling complex associated protein ISO ClinVar Annotator: match by term: BICRA-related condition | ClinVar Annotator: match by term: Coffin-Siris syndrome 12 OMIM
ClinVar		 PMID:25741868 PMID:25741870 PMID:28492532 PMID:33232675 PMID:37500730 NCBI chr 1:85,790,093...85,867,656
Ensembl chr 1:85,790,093...85,864,306 		JBrowse link
Coffin-Siris syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn4 actinin alpha 4 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 More... NCBI chr 1:93,310,294...93,379,369
Ensembl chr 1:93,310,278...93,379,320 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: ARID1A-related condition | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 OMIM
ClinVar		 PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 More... NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:151,192,014...151,265,386 		JBrowse link
G Hr HR, lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:21919222 PMID:23548463 PMID:25741868 PMID:28492532 NCBI chr15:52,036,540...52,056,019
Ensembl chr15:52,036,540...52,056,015 		JBrowse link
Coffin-Siris syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcb1 SWI/SNF related BAF chromatin remodeling complex subunit B1 susceptibility ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar
OMIM		 PMID:11161377 PMID:22426308 PMID:22726846 PMID:23196062 PMID:23637025 More... NCBI chr20:12,740,105...12,763,054
Ensembl chr20:12,740,943...12,763,055 		JBrowse link
Coffin-Siris syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 4 | ClinVar Annotator: match by term: SMARCA4-related BAFopathy | ClinVar Annotator: match by term: SMARCA4-related condition OMIM
ClinVar		 PMID:9536098 PMID:10601012 PMID:15756273 PMID:17576681 PMID:18414213 More... NCBI chr 8:28,438,370...28,535,071
Ensembl chr 8:28,443,810...28,535,070 		JBrowse link
Coffin-Siris syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 susceptibility ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 5 ClinVar
OMIM		 PMID:22426308 PMID:23906836 PMID:25741868 PMID:28492532 PMID:35980532 More... NCBI chr10:84,655,468...84,678,259
Ensembl chr10:84,655,468...84,676,185 		JBrowse link
Coffin-Siris syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: ARID2-related condition | ClinVar Annotator: match by term: Coffin-Siris syndrome 6 OMIM
ClinVar		 PMID:24728327 PMID:25741868 PMID:26238514 PMID:28124119 PMID:28492532 More... NCBI chr 7:129,326,371...129,443,813
Ensembl chr 7:129,324,137...129,443,187 		JBrowse link
G Gigyf1 GRB10 interacting GYF protein 1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 6 ClinVar PMID:25741868 PMID:35917186 NCBI chr12:24,800,996...24,819,719
Ensembl chr12:24,802,865...24,811,800 		JBrowse link
Coffin-Siris syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 7 | ClinVar Annotator: match by term: DPF2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29429572 PMID:29429672 PMID:31207137 NCBI chr 1:212,612,986...212,628,376
Ensembl chr 1:212,612,986...212,628,289 		JBrowse link
Coffin-Siris syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcc2 SWI/SNF related BAF chromatin remodeling complex subunit C2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 8 | ClinVar Annotator: match by term: SMARCC2-related condition OMIM
ClinVar		 PMID:23556151 PMID:25590979 PMID:25741868 PMID:27620904 PMID:28492532 More... NCBI chr 7:1,466,223...1,494,627
Ensembl chr 7:1,466,454...1,494,626 		JBrowse link
Coffin-Siris syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 27 | ClinVar Annotator: match by term: SOX11-related condition OMIM
ClinVar		 PMID:24886874 PMID:25741868 PMID:26543203 PMID:28492532 PMID:28787104 More... NCBI chr 6:49,736,773...49,738,794
Ensembl chr 6:49,736,304...49,738,691 		JBrowse link
Cohen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:161,755,110...161,825,397
Ensembl chr 1:161,755,110...161,825,365 		JBrowse link
G Spag1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: VPS13B-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:69,246,301...69,306,483
Ensembl chr 7:69,246,582...69,306,482 		JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: PEPPER SYNDROME | ClinVar Annotator: match by term: Pepper syndrome | ClinVar Annotator: match by term: VPS13B-related condition
OMIM:216550 		OMIM
CTD
ClinVar
MouseDO		 PMID:9536098 PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 More... NCBI chr 7:68,436,996...69,013,574
Ensembl chr 7:68,443,655...69,013,574 		JBrowse link
Cole-Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4hb prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features | ClinVar Annotator: match by term: Cole-Carpenter syndrome 		CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr10:106,335,300...106,346,911
Ensembl chr10:106,335,300...106,346,911 		JBrowse link
G Sec24d SEC24 homolog D, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:214,103,138...214,211,155
Ensembl chr 2:214,103,190...214,211,144 		JBrowse link
Cole-Carpenter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4hb prolyl 4-hydroxylase subunit beta ISO ClinVar Annotator: match by term: Cole-Carpenter syndrome 1 | ClinVar Annotator: match by term: P4HB-related condition OMIM
ClinVar		 PMID:25683117 PMID:25741868 PMID:28492532 PMID:29263160 PMID:30063094 NCBI chr10:106,335,300...106,346,911
Ensembl chr10:106,335,300...106,346,911 		JBrowse link
Cole-Carpenter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec24d SEC24 homolog D, COPII coat complex component ISO ClinVar Annotator: match by term: Cole-Carpenter syndrome 2 | ClinVar Annotator: match by term: SEC24D-related condition OMIM
ClinVar		 PMID:25683121 PMID:25741868 PMID:26467156 PMID:27942778 PMID:28492532 More... NCBI chr 2:214,103,138...214,211,155
Ensembl chr 2:214,103,190...214,211,144 		JBrowse link
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness ClinVar
OMIM		 PMID:2440678 PMID:8659547 PMID:16199547 PMID:20127975 PMID:22012259 More... NCBI chr 4:131,965,676...132,177,790
Ensembl chr 4:131,965,714...132,177,790 		JBrowse link
combined oxidative phosphorylation deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps16 mitochondrial ribosomal protein S16 ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr15:3,967,809...3,970,211
Ensembl chr15:3,968,054...3,970,185 		JBrowse link
Congenital Cataracts, Facial Dysmorphism, and Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: CTDP1-related condition | ClinVar Annotator: match by term: Congenital Cataracts, Facial Dysmorphism, and Neuropathy
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:14517542 PMID:15322984 PMID:16194727 PMID:17576681 More... NCBI chr18:76,129,243...76,193,404
Ensembl chr18:76,129,243...76,190,578 		JBrowse link
G Gja3 gap junction protein, alpha 3 ISO ClinVar Annotator: match by term: Congenital Cataracts, Facial Dysmorphism, and Neuropathy ClinVar PMID:21031021 PMID:25741868 PMID:28839118 PMID:29461512 PMID:36161833 NCBI chr15:35,296,946...35,322,405
Ensembl chr15:35,295,523...35,322,809 		JBrowse link
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk13 cyclin-dependent kinase 13 ISO
ISS 		ClinVar Annotator: match by term: CDK13-related disorder | ClinVar Annotator: match by term: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
OMIM:617360
DNA:Mutations:cds :
DNA:mutations:cds:
DNA:mutations: : 		OMIM
ClinVar
MouseDO
RGD		 PMID:15632290 PMID:22512864 PMID:25741868 PMID:25741869 PMID:27479907 More... RGD:155631312, RGD:155631311, RGD:155641229, RGD:11560583 NCBI chr17:51,945,975...52,040,218
Ensembl chr17:51,946,701...52,037,257 		JBrowse link
congenital limbs-face contractures-hypotonia-developmental delay syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay OMIM
ClinVar		 PMID:23749988 PMID:24075186 PMID:25683120 PMID:25741868 PMID:25864427 More... NCBI chr15:106,805,209...107,148,837
Ensembl chr15:106,805,209...107,147,858 		JBrowse link
congenital myasthenic syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rapsn receptor-associated protein of the synapse ISO
ISS 		ClinVar Annotator: match by term: Congenital myasthenic syndrome 11
OMIM:616326 		OMIM
ClinVar
MouseDO		 PMID:2245297 PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 More... NCBI chr 3:97,470,891...97,480,196
Ensembl chr 3:97,470,881...97,480,196 		JBrowse link
congenital myasthenic syndrome 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2C OMIM
ClinVar		 PMID:8872460 PMID:10562302 PMID:20562457 PMID:25741868 PMID:27391121 More... NCBI chr10:54,999,943...55,015,137
Ensembl chr10:55,002,788...55,015,107 		JBrowse link
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:54,999,943...55,015,137
Ensembl chr10:55,002,788...55,015,107 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:95,310,316...95,318,734
Ensembl chr 9:95,310,298...95,318,745 		JBrowse link
G Musk muscle associated receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:77,853,560...77,967,653
Ensembl chr 5:77,853,736...77,964,338 		JBrowse link
G Rapsn receptor-associated protein of the synapse ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:97,470,891...97,480,196
Ensembl chr 3:97,470,881...97,480,196 		JBrowse link
congenital myopathy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a4 ATPase H+ transporting V0 subunit a4 ISO ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:67,727,145...67,809,092
Ensembl chr 4:67,727,145...67,809,092 		JBrowse link
G Insr insulin receptor ISO ClinVar Annotator: match by term: CONGENITAL MYOPATHY 13 ClinVar PMID:2040394 PMID:8432414 PMID:8900242 PMID:10084586 PMID:11463381 More... NCBI chr12:5,991,135...6,129,275
Ensembl chr12:5,981,835...6,128,803 		JBrowse link
G Stac3 SH3 and cysteine rich domain 3 ISO ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy | ClinVar Annotator: match by term: STAC3-related disorder
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23736855 PMID:25741868 More... NCBI chr 7:65,227,151...65,235,884
Ensembl chr 7:65,228,352...65,235,878 		JBrowse link
congenital symmetric circumferential skin creases 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb5 tubulin, beta 5 class I ISO ClinVar Annotator: match by term: Symmetric circumferential skin creases, congenital, 1 | ClinVar Annotator: match by term: TUBB-related condition OMIM
ClinVar		 PMID:23246003 PMID:24833723 PMID:25741868 PMID:26637975 PMID:29671837 More... NCBI chr20:2,917,577...2,921,726
Ensembl chr20:2,917,539...2,921,726 		JBrowse link
congenital symmetric circumferential skin creases 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapre2 microtubule-associated protein, RP/EB family, member 2 ISO ClinVar Annotator: match by term: MAPRE2-related condition | ClinVar Annotator: match by term: Skin creases, congenital symmetric circumferential, 2 OMIM
ClinVar		 PMID:19182162 PMID:21262397 PMID:25741868 PMID:26637975 PMID:28492532 More... NCBI chr18:15,303,502...15,444,306
Ensembl chr18:15,303,533...15,442,796 		JBrowse link
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igbp1 immunoglobulin binding protein 1 ISO ClinVar Annotator: match by term: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | ClinVar Annotator: match by term: IGBP1-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:25741868 PMID:28492532 NCBI chr  X:69,622,925...69,645,167
Ensembl chr  X:69,622,917...69,646,149 		JBrowse link
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frmd4a FERM domain containing 4A ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia | ClinVar Annotator: match by term: FRMD4A-related condition OMIM
ClinVar		 PMID:25388005 PMID:25741868 PMID:28492532 NCBI chr17:78,577,062...79,167,924
Ensembl chr17:78,579,277...79,167,663 		JBrowse link
Costello syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Costello syndrome 		CTD
ClinVar		 PMID:17703371 PMID:28492532 NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:69,342,813...69,476,931 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO
ISS 		ClinVar Annotator: match by term: Costello syndrome
OMIM:218040
DNA:missense mutation:C.34G>A(p.G12S)(human)
DNA:missense mutation:cds:c.179G>A( p.G60D)(human)
CTD Direct Evidence: marker/mechanism
DNA:snps:missense mutations:cds:multiple (human) 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:17468812 PMID:17703371 PMID:19132118 PMID:28492532 PMID:29684080 More... RGD:11070051, RGD:11085804, RGD:10412308 NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:205,725,975...205,729,590 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17468812 PMID:17703371 NCBI chr 4:179,916,255...179,949,613
Ensembl chr 4:179,919,802...179,949,320 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: FCS syndrome
ClinVar Annotator: match by term: Costello syndrome 		ClinVar PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More... NCBI chr 1:205,729,402...205,744,754
Ensembl chr 1:205,729,409...205,744,759 		JBrowse link
G Map2k1 mitogen activated protein kinase kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17703371 NCBI chr 8:73,578,747...73,650,184
Ensembl chr 8:73,578,752...73,650,184 		JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17703371 NCBI chr 7:9,241,449...9,264,216
Ensembl chr 7:9,241,310...9,260,940 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17703371 NCBI chr12:41,026,079...41,085,577
Ensembl chr12:41,043,785...41,085,577 		JBrowse link
G Spred1 sprouty-related, EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Costello syndrome ClinVar PMID:28492532 NCBI chr 3:124,437,230...124,504,358
Ensembl chr 3:124,437,230...124,504,358 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Costello syndrome ClinVar PMID:2946667 PMID:7898523 PMID:10085122 PMID:10405326 PMID:10610467 More... NCBI chr13:49,819,123...49,837,125
Ensembl chr13:49,822,304...49,837,125 		JBrowse link
Cousin Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx15 T-box transcription factor 15 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pelviscapular dysplasia | ClinVar Annotator: match by term: TBX15-related disorder 		CTD
ClinVar
OMIM		 PMID:19068278 PMID:25741868 PMID:28492532 NCBI chr 2:189,265,373...189,376,466
Ensembl chr 2:189,265,373...189,376,466 		JBrowse link
Cowden syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Egfr epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar NCBI chr14:95,378,626...95,551,358
Ensembl chr14:95,378,626...95,551,358 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9002682 NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
G Klln killin, p53-regulated DNA replication inhibitor ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:20538126 PMID:21376320 PMID:25487149 PMID:25647241 PMID:25741868 More... NCBI chr 8:28,546,191...28,569,075
Ensembl chr 8:28,546,146...28,570,675 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:15520168 PMID:22658544 PMID:22729222 PMID:23100325 PMID:23946963 More... NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:117,143,468...117,177,411 		JBrowse link
G Pten phosphatase and tensin homolog susceptibility ISO
ISS 		ClinVar Annotator: match by term: Cowden syndrome 1 | ClinVar Annotator: match by term: Hamartomatous polyposis | ClinVar Annotator: match by term: Lhermitte-Duclos disease | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome
CTD Direct Evidence: marker/mechanism
OMIM:158350
DNA:deletion:exon:c.950_953delTACT (human)
mRNA:spice variants:lymphocyte (human)
DNA:missense mutation, nonsense mutations:cds:p.G129E, p.E157X, p.R233X (human)
DNA:deletions:multiple (human) 		OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:947011 PMID:1097835 PMID:1147684 PMID:1336932 PMID:1945792 More... RGD:1302552, RGD:12859041, RGD:12859035, RGD:12802361, RGD:12802356 NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:240,043,707...240,110,330 		JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:19802898 PMID:20923864 PMID:21979946 PMID:23072324 PMID:23512077 More... NCBI chr 5:158,547,775...158,568,589
Ensembl chr 5:158,547,689...158,569,667 		JBrowse link
cranioectodermal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cilk1 ciliogenesis associated kinase 1 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia ClinVar PMID:25741868 NCBI chr 8:87,868,294...87,922,995
Ensembl chr 8:87,868,156...87,922,995 		JBrowse link
G Ift122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cranioectodermal dysplasia 		CTD
ClinVar		 PMID:23826986 PMID:24027799 PMID:25741868 PMID:28492532 NCBI chr 4:150,577,525...150,648,052
Ensembl chr 4:150,539,786...150,648,052 		JBrowse link
G Ift43 intraflagellar transport 43 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:111,460,689...111,537,224
Ensembl chr 6:111,456,476...111,537,224 		JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia | ClinVar Annotator: match by term: Sensenbrenner syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD		 PMID:22019273 PMID:23559409 PMID:23683095 PMID:25726036 PMID:25741868 More... NCBI chr14:43,396,130...43,460,012
Ensembl chr14:43,397,835...43,459,939 		JBrowse link
G Wdr35 WD repeat domain 35 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cranioectodermal dysplasia 		CTD
ClinVar		 PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:28332779 More... NCBI chr 6:37,490,557...37,550,391
Ensembl chr 6:37,490,545...37,550,664 		JBrowse link
cranioectodermal dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 | ClinVar Annotator: match by term: LEVIN SYNDROME I OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17022080 PMID:17576681 PMID:19648123 More... NCBI chr 4:150,577,525...150,648,052
Ensembl chr 4:150,539,786...150,648,052 		JBrowse link
cranioectodermal dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spag17 sperm associated antigen 17 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar NCBI chr 2:189,952,649...190,199,623
Ensembl chr 2:189,952,729...190,189,755 		JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 | ClinVar Annotator: match by term: WDR35-related disorder
DNA:missense mutation:cds:p.L520P (human) 		OMIM
ClinVar
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20817137 PMID:21473986 More... RGD:11553909 NCBI chr 6:37,490,557...37,550,391
Ensembl chr 6:37,490,545...37,550,664 		JBrowse link
cranioectodermal dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 3 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21378380 PMID:24027799 More... NCBI chr 6:111,460,689...111,537,224
Ensembl chr 6:111,456,476...111,537,224 		JBrowse link
cranioectodermal dysplasia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 4
DNA:missense mutation:cds:p.L750P (mouse) 		OMIM
ClinVar
RGD		 PMID:9536098 PMID:17576681 PMID:22019273 PMID:23559409 PMID:23683095 More... RGD:11552606 NCBI chr14:43,396,130...43,460,012
Ensembl chr14:43,397,835...43,459,939 		JBrowse link
Cranioectodermal dysplasia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift140 intraflagellar transport 140 susceptibility ISO ClinVar Annotator: match by term: CRANIOECTODERMAL DYSPLASIA 5 ClinVar
OMIM		 PMID:16199547 PMID:22503633 PMID:23418020 PMID:24009529 PMID:25741868 More... NCBI chr10:14,537,134...14,624,926
Ensembl chr10:14,537,466...14,624,926 		JBrowse link
Cranioectodermal dysplasia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cilk1 ciliogenesis associated kinase 1 ISO OMIM NCBI chr 8:87,868,294...87,922,995
Ensembl chr 8:87,868,156...87,922,995 		JBrowse link
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vsx1 visual system homeobox 1 ISO ClinVar Annotator: match by term: Craniofacial anomalies and anterior segment dysgenesis syndrome OMIM
ClinVar		 PMID:11978762 PMID:15051220 PMID:16303937 PMID:21976959 PMID:25741868 More... NCBI chr 3:159,974,693...159,982,292
Ensembl chr 3:159,974,693...159,982,292 		JBrowse link
Craniofacial Microsomia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxi3 forkhead box I3 ISO ClinVar Annotator: match by term: Craniofacial microsomia 2 | ClinVar Annotator: match by term: FOXI3-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:36260083 PMID:37041148 NCBI chr 4:104,491,834...104,496,008
Ensembl chr 4:104,491,759...104,496,008 		JBrowse link
craniofacial-deafness-hand syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Craniofacial-deafness-hand syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:6859126 PMID:8589691 PMID:8664898 PMID:8863157 PMID:9584079 More... NCBI chr 9:87,015,960...87,112,531
Ensembl chr 9:87,016,999...87,124,141 		JBrowse link
Craniofaciocardiohepatic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amotl1 angiomotin-like 1 ISO ClinVar Annotator: match by term: CRANIOFACIOCARDIOHEPATIC SYNDROME ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:30375152 PMID:33026150 PMID:36116699 More... NCBI chr 8:19,630,139...19,749,027
Ensembl chr 8:19,634,510...19,748,869 		JBrowse link
craniofrontonasal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda ectodysplasin-A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17941886 NCBI chr  X:69,118,577...69,520,274
Ensembl chr  X:69,118,796...69,520,274 		JBrowse link
G Efnb1 ephrin B1 ISO
ISS 		ClinVar Annotator: match by term: Craniofrontonasal syndrome | ClinVar Annotator: match by term: EFNB1-related condition
OMIM:304110
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:1468459 PMID:6627724 PMID:9536098 PMID:15124102 PMID:15166289 More... NCBI chr  X:68,297,529...68,310,335
Ensembl chr  X:68,297,492...68,349,546 		JBrowse link
G Ophn1 oligophrenin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17941886 NCBI chr  X:67,639,956...68,018,217
Ensembl chr  X:67,643,252...68,016,831 		JBrowse link
G Pja1 praja ring finger ubiquitin ligase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17941886 NCBI chr  X:68,621,101...68,626,001
Ensembl chr  X:68,620,084...68,638,407 		JBrowse link
craniolenticulosutural dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec23a Sec23 homolog A, COPII coat complex component ISO ClinVar Annotator: match by term: BOYADJIEV-JABS SYNDROME | ClinVar Annotator: match by term: Craniolenticulosutural dysplasia | ClinVar Annotator: match by term: SEC23A-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16980979 PMID:17576681 PMID:17981132 PMID:21039434 More... NCBI chr 6:82,393,699...82,442,594
Ensembl chr 6:82,394,863...82,440,904 		JBrowse link
CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Axin1 axin 1 ISO ClinVar Annotator: match by term: Craniometadiaphyseal osteosclerosis with hip dysplasia OMIM
ClinVar		 PMID:25741868 PMID:37582359 NCBI chr10:15,667,894...15,720,092
Ensembl chr10:15,667,958...15,720,092 		JBrowse link
craniosynostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 ALX homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:100,067,052...100,103,624
Ensembl chr 3:100,067,052...100,103,624 		JBrowse link
G Axin2 axin 2 ISS OMIM:123100 | OMIM:182212 | OMIM:600593 | OMIM:600775 | OMIM:604757 | OMIM:615314 | OMIM:615529 MouseDO NCBI chr10:94,393,379...94,426,579
Ensembl chr10:94,395,909...94,426,575 		JBrowse link
G Bbs9 Bardet-Biedl syndrome 9 susceptibility ISO DNA:SNPs:introns:rs10262453,rs17724206,rs1884302(human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:23160099 PMID:23160099 RGD:9684995 NCBI chr 8:29,288,846...29,713,889
Ensembl chr 8:29,289,997...29,713,880 		JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23160099 NCBI chr 3:141,264,648...141,275,416
Ensembl chr 3:141,264,646...141,274,760 		JBrowse link
G Efnb1 ephrin B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15166289 NCBI chr  X:68,297,529...68,310,335
Ensembl chr  X:68,297,492...68,349,546 		JBrowse link
G Erf Ets2 repressor factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lambdoidal craniosynostosis
ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Lambdoid synostosis | ClinVar Annotator: match by term: Syndromic craniosynostosis
ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis 		CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:23354439 PMID:25741868 PMID:25741905 More... NCBI chr 1:89,957,760...89,966,213
Ensembl chr 1:89,957,760...89,966,213 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:26424790 NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:77,624,223...77,687,183 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Craniosynostosis ClinVar PMID:25741868 PMID:31837199 NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Craniosynostosis ClinVar PMID:25741868 PMID:28492532 NCBI chr18:53,696,197...53,901,992
Ensembl chr18:53,697,708...53,902,191 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO DNA:missense mutation:exon:p.P250R (mouse)
ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis, nonspecific
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:15605412 PMID:16764984 PMID:17154279 PMID:18160472 PMID:18985070 More... RGD:11567263 NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO DNA:substitutions:multiple (human)
ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: FGFR2-related craniosynostosis
ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: FGFR2-related craniosynostosis | ClinVar Annotator: match by term: Syndromic craniosynostosis
ClinVar Annotator: match by term: Brachycephaly | ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: FGFR2-related craniosynostosis
ClinVar Annotator: match by term: Brachycephaly | ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2-related craniosynostosis
ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2 related craniosynostosis
ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: FGFR2 related craniosynostosis
human cells in a rat model
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.Y105C, p.G384R (human) 		ClinVar
CTD
RGD		 PMID:1519658 PMID:1641873 PMID:1697263 PMID:2172978 PMID:4078868 More... RGD:6480630, RGD:12801469, RGD:8547554, RGD:12801484 NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO DNA:missense mutation:cds:p.P250R(human)
ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis, nonspecific 		ClinVar
RGD		 PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 More... RGD:11568028 NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		JBrowse link
G Flna filamin A ISO DNA:missense mutations:cds:multiple (human) RGD PMID:25873011 RGD:11531800 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:102,367,201...102,515,464
Ensembl chr 5:102,367,201...102,515,404 		JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar PMID:28492532 NCBI chr 1:89,943,669...89,953,514
Ensembl chr 1:89,943,669...89,953,593 		JBrowse link
G Ift122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chr 4:150,577,525...150,648,052
Ensembl chr 4:150,539,786...150,648,052 		JBrowse link
G Megf8 multiple EGF-like-domains 8 ISO ClinVar Annotator: match by term: Craniosynostosis ClinVar PMID:23063620 PMID:25741868 PMID:28914635 PMID:29168297 NCBI chr 1:90,030,057...90,079,423
Ensembl chr 1:90,030,388...90,079,422 		JBrowse link
G Msx2 msh homeobox 2 ISO
ISS 		craniosynostosis type 2, OMIM:604757, DNA:point mutation:exon:P148H
OMIM:123100 | OMIM:182212 | OMIM:600593 | OMIM:600775 | OMIM:604757 | OMIM:615314 		MouseDO
RGD		 PMID:8968743 RGD:1600491 NCBI chr17:11,102,284...11,107,949
Ensembl chr17:11,102,247...11,107,945 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Lambdoidal craniosynostosis ClinVar PMID:25741868 PMID:28492532 PMID:29892087 PMID:31737537 NCBI chr15:32,416,525...32,439,851
Ensembl chr15:32,416,527...32,438,194 		JBrowse link
G Nell1 neural EGFL like 1 IMP
ISO 		CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:14672347 PMID:12235118 RGD:633405 NCBI chr 1:108,845,462...109,709,858
Ensembl chr 1:108,845,462...109,709,858 		JBrowse link
G Nog noggin treatment ISO RGD PMID:19627528 RGD:8547554 NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,625,875...74,628,103 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: FGFR2-related craniosynostosis
ClinVar Annotator: match by term: Brachycephaly 		ClinVar PMID:11992261 PMID:14644997 PMID:15723289 PMID:15987685 PMID:16358218 More... NCBI chr12:41,026,079...41,085,577
Ensembl chr12:41,043,785...41,085,577 		JBrowse link
G Smad6 SMAD family member 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:73,345,457...73,414,985
Ensembl chr 8:73,345,460...73,414,149 		JBrowse link
G Tcf12 transcription factor 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23354436 NCBI chr 8:81,371,201...81,682,337
Ensembl chr 8:81,373,321...81,679,922 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Craniosynostosis ClinVar PMID:25741868 PMID:31837199 NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:66,449,293...66,527,260 		JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1
ClinVar Annotator: match by term: Brachycephaly | ClinVar Annotator: match by term: Craniosynostosis 1
ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Lambdoid synostosis
ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2-related craniosynostosis
ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2-related craniosynostosis
ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2 related craniosynostosis 		CTD
ClinVar		 PMID:1240778 PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 More... NCBI chr 6:56,402,309...56,404,303
Ensembl chr 6:56,398,061...56,404,965 		JBrowse link
G Wdr35 WD repeat domain 35 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20817137 NCBI chr 6:37,490,557...37,550,391
Ensembl chr 6:37,490,545...37,550,664 		JBrowse link
G Zic1 Zic family member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:100,785,282...100,797,716
Ensembl chr 8:100,787,789...100,792,427 		JBrowse link
craniosynostosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:2370745 PMID:9536098 PMID:17576681 PMID:23354439 PMID:25741868 More... NCBI chr 1:89,957,760...89,966,213
Ensembl chr 1:89,957,760...89,966,213 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar NCBI chr15:2,688,535...2,861,443
Ensembl chr15:2,688,811...2,844,343 		JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: CRANIOSYNOSTOSIS 1 | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: TWIST1-related craniosynostosis OMIM
ClinVar		 PMID:1240778 PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 More... NCBI chr 6:56,402,309...56,404,303
Ensembl chr 6:56,398,061...56,404,965 		JBrowse link
craniosynostosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msx2 msh homeobox 2 ISO ClinVar Annotator: match by term: Craniosynostosis 2 | ClinVar Annotator: match by term: Warman-Mulliken-Hayward syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:7597092 PMID:8106171 PMID:8357019 PMID:8968743 PMID:9256341 More... NCBI chr17:11,102,284...11,107,949
Ensembl chr17:11,102,247...11,107,945 		JBrowse link
craniosynostosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Coronal craniosynostosis ClinVar PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 More... NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		JBrowse link
G Tcf12 transcription factor 12 ISO ClinVar Annotator: match by term: Coronal craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 3 | ClinVar Annotator: match by term: TCF12-related condition OMIM
ClinVar		 PMID:23354436 PMID:24736737 PMID:25271085 PMID:25741868 PMID:28492532 More... NCBI chr 8:81,371,201...81,682,337
Ensembl chr 8:81,373,321...81,679,922 		JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Coronal craniosynostosis ClinVar PMID:25741868 NCBI chr 6:56,402,309...56,404,303
Ensembl chr 6:56,398,061...56,404,965 		JBrowse link
craniosynostosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Craniosynostosis 4 OMIM
ClinVar		 PMID:23354439 PMID:25741868 PMID:26097063 PMID:27738187 PMID:28492532 More... NCBI chr 1:89,957,760...89,966,213
Ensembl chr 1:89,957,760...89,966,213 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Craniosynostosis 4 ClinVar PMID:25741868 PMID:28492532 PMID:29892087 PMID:31737537 NCBI chr15:32,416,525...32,439,851
Ensembl chr15:32,416,527...32,438,194 		JBrowse link
Craniosynostosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 ALX homeobox 4 ISO ClinVar Annotator: match by term: Craniosynostosis 5, susceptibility to ClinVar
OMIM		 PMID:22829454 PMID:25741868 PMID:28492532 NCBI chr 3:100,067,052...100,103,624
Ensembl chr 3:100,067,052...100,103,624 		JBrowse link
craniosynostosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zic1 Zic family member 1 ISO ClinVar Annotator: match by term: Craniosynostosis 6 | ClinVar Annotator: match by term: ZIC1-related condition OMIM
ClinVar		 PMID:25741868 PMID:26340333 PMID:28492532 NCBI chr 8:100,785,282...100,797,716
Ensembl chr 8:100,787,789...100,792,427 		JBrowse link
craniosynostosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Craniosynostosis 7 ClinVar PMID:27606499 NCBI chr 3:141,264,648...141,275,416
Ensembl chr 3:141,264,646...141,274,760 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: CRS7, DIGENIC | ClinVar Annotator: match by term: Craniosynostosis 7 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:22275001 PMID:25741868 PMID:27606499 More... NCBI chr 8:73,345,457...73,414,985
Ensembl chr 8:73,345,460...73,414,149 		JBrowse link
Craniosynostosis and Dental Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Craniosynostosis and dental anomalies | ClinVar Annotator: match by term: IL11RA-related condition OMIM
ClinVar		 PMID:21741611 PMID:24498618 PMID:25741868 PMID:28492532 PMID:30282020 More... NCBI chr 5:61,727,650...61,737,265
Ensembl chr 5:61,727,931...61,737,264 		JBrowse link
Craniosynostosis Syndrome, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Axin2 axin 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr10:94,393,379...94,426,579
Ensembl chr10:94,395,909...94,426,575 		JBrowse link
G Cnpy2 canopy FGF signaling regulator 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 7:1,332,293...1,338,081
Ensembl chr 7:1,334,335...1,340,333 		JBrowse link
G Ctnna1 catenin alpha 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:31292255 NCBI chr18:27,002,330...27,135,009
Ensembl chr18:26,999,820...27,135,007 		JBrowse link
G Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 4:118,599,356...118,616,176
Ensembl chr 4:118,599,356...118,616,176 		JBrowse link
G Dhrs3 dehydrogenase/reductase 3 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 5:162,031,853...162,065,655
Ensembl chr 5:162,031,386...162,065,653 		JBrowse link
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 1:89,957,760...89,966,213
Ensembl chr 1:89,957,760...89,966,213 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:53,696,197...53,901,992
Ensembl chr18:53,697,708...53,902,191 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:9536098 PMID:10629055 PMID:12627230 PMID:15365636 PMID:15605412 More... NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:7607643 PMID:7719345 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:7493034 PMID:8723106 PMID:8841188 PMID:8880573 PMID:9042914 More... NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:31292255 NCBI chr13:32,499,678...32,716,418
Ensembl chr13:32,499,678...32,716,418 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:21326280 PMID:22903559 PMID:24736735 PMID:25741868 NCBI chr17:54,134,064...54,405,198
Ensembl chr17:54,134,064...54,405,198 		JBrowse link
G Gpc4 glypican 4 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:31292255 NCBI chr  X:136,565,536...136,676,142
Ensembl chr  X:136,565,591...136,676,057 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 4:170,297,811...170,775,420
Ensembl chr 4:170,322,617...170,773,570 		JBrowse link
G Hapln2 hyaluronan and proteoglycan link protein 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 2:175,786,767...175,794,515
Ensembl chr 2:175,789,009...175,794,438 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:130,959,997...131,248,664 		JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:28492532 PMID:31837199 NCBI chr 5:61,727,650...61,737,265
Ensembl chr 5:61,727,931...61,737,264 		JBrowse link
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:30245513 PMID:31292255 NCBI chr16:75,787,411...75,868,584
Ensembl chr16:75,787,411...75,866,099 		JBrowse link
G Man2b1 mannosidase, alpha, class 2B, member 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr19:39,959,964...39,979,299
Ensembl chr19:39,959,965...39,979,246 		JBrowse link
G Megf8 multiple EGF-like-domains 8 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:23063620 PMID:25741868 PMID:28914635 PMID:29168297 NCBI chr 1:90,030,057...90,079,423
Ensembl chr 1:90,030,388...90,079,422 		JBrowse link
G Msx1 msh homeobox 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:28492532 PMID:31837199 NCBI chr14:77,185,802...77,189,735
Ensembl chr14:77,185,802...77,189,735 		JBrowse link
G Msx2 msh homeobox 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar NCBI chr17:11,102,284...11,107,949
Ensembl chr17:11,102,247...11,107,945 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar NCBI chr 5:62,678,197...62,697,360
Ensembl chr 5:62,678,367...62,697,343 		JBrowse link
G Prrx1 paired related homeobox 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:21294718 PMID:22211708 PMID:22674740 PMID:23444262 PMID:25741868 More... NCBI chr13:78,136,783...78,205,379
Ensembl chr13:78,136,783...78,204,058 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,548,449...1,613,461 		JBrowse link
G Runx2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:23,664,952...23,990,027 		JBrowse link
G Sox11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:31292255 NCBI chr 6:49,736,773...49,738,794
Ensembl chr 6:49,736,304...49,738,691 		JBrowse link
G Tcf12 transcription factor 12 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:23354436 PMID:25741868 PMID:28492532 PMID:30038786 PMID:31837199 More... NCBI chr 8:81,371,201...81,682,337
Ensembl chr 8:81,373,321...81,679,922 		JBrowse link
G Tfap2b transcription factor AP-2 beta ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:31292255 NCBI chr 9:29,282,703...29,312,568
Ensembl chr 9:29,282,825...29,312,568 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:66,449,293...66,527,260 		JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar NCBI chr 7:83,806,121...84,032,609
Ensembl chr 7:83,811,497...84,031,786 		JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:28492532 PMID:31837199 NCBI chr14:43,396,130...43,460,012
Ensembl chr14:43,397,835...43,459,939 		JBrowse link
G Zfp462 zinc finger protein 462 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:28513610 NCBI chr 5:74,465,383...74,606,020
Ensembl chr 5:74,468,643...74,606,020 		JBrowse link
Craniosynostosis with Ectopia Lentis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl4 ADAMTS-like 4 ISO ClinVar Annotator: match by term: Craniosynostosis with ectopia lentis ClinVar PMID:20564469 PMID:25741868 PMID:28492532 PMID:28642162 PMID:35378950 More... NCBI chr 2:185,924,582...185,936,039
Ensembl chr 2:185,924,594...185,935,796 		JBrowse link
Craniosynostosis, Anal Anomalies, and Porokeratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnu12 RNA, U12 small nuclear ISO ClinVar Annotator: match by term: CDAGS syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2400728 PMID:9733036 PMID:23602181 PMID:25741868 PMID:28217872 More... NCBI chr 7:116,183,590...116,183,740
Ensembl chr 7:116,183,590...116,183,740 		JBrowse link
craniotubular dysplasia Ikegawa type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem53 transmembrane protein 53 ISO
ISS 		ClinVar Annotator: match by term: Craniotubular dysplasia, Ikegawa type | ClinVar Annotator: match by term: TMEM53-related craniotubular dysplasia
OMIM:619727 		ClinVar
MouseDO
OMIM		 PMID:25741868 PMID:33824347 NCBI chr 5:135,958,344...135,974,258
Ensembl chr 5:135,958,163...135,974,258 		JBrowse link
Crouzon syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO
ISS 		ClinVar Annotator: match by term: Craniofacial dysostosis | ClinVar Annotator: match by term: Craniofacial dysostosis type 1 | ClinVar Annotator: match by term: Crouzon disease | ClinVar Annotator: match by term: Crouzon syndrome
OMIM:123500
DNA:missense mutations:CDS:multiple (human)
DNA:missense mutations:cds:p.Y281C, p.G289P (human)
DNA:missense mutations, silent mutation:cds:multiple (human)
DNA:missense mutations:cds:multiple (human)
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1519658 PMID:1641873 PMID:1697263 PMID:2172978 PMID:4078868 More... RGD:155663659, RGD:12801472, RGD:12801470, RGD:12801466 NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Craniofacial dysostosis ClinVar PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 More... NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		JBrowse link
Crouzon syndrome-acanthosis nigricans syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: CROUZONODERMOSKELETAL SYNDROME | ClinVar Annotator: match by term: Crouzon syndrome-acanthosis nigricans syndrome
DNA:missense mutation:p.A391E(human)
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD
RGD		 PMID:1908846 PMID:7493034 PMID:7647778 PMID:7649548 PMID:7670477 More... RGD:11568032 NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		JBrowse link
De Hauwere syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868 NCBI chr17:32,840,119...32,844,100
Ensembl chr17:32,805,858...32,844,347 		JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868 NCBI chr 2:220,391,417...220,411,588
Ensembl chr 2:220,391,888...220,411,591 		JBrowse link
DeSanto-Shinawi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wac WW domain containing adaptor with coiled-coil ISO ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, FACIAL DYSMORPHISM, AND OCULAR ABNORMALITIES | ClinVar Annotator: match by term: DeSanto-Shinawi syndrome | ClinVar Annotator: match by term: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | ClinVar Annotator: match by term: WAC-related condition OMIM
ClinVar		 PMID:23033978 PMID:25741868 PMID:26264232 PMID:26757981 PMID:28191890 More... NCBI chr17:60,617,702...60,677,771
Ensembl chr17:60,617,544...60,679,267 		JBrowse link
Desbuquois dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4933427D14Rikl RIKEN cDNA 4933427D14 gene like ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:57,282,433...57,331,259
Ensembl chr10:57,281,439...57,331,259 		JBrowse link
G Abcc9 ATP binding cassette subfamily C member 9 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:177,262,848...177,386,837
Ensembl chr 4:177,262,848...177,386,348 		JBrowse link
G Acan aggrecan ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:142,390,951...142,453,779
Ensembl chr 1:142,390,951...142,453,779 		JBrowse link
G Acp5 acid phosphatase 5, tartrate resistant ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:28,939,984...28,946,639
Ensembl chr 8:28,939,985...28,943,929 		JBrowse link
G Actb actin, beta ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:16,776,664...16,779,634
Ensembl chr12:16,776,661...16,780,242 		JBrowse link
G Acvr1 activin A receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:63,387,378...63,506,980
Ensembl chr 3:63,387,381...63,477,884 		JBrowse link
G Adamts10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:15,033,859...15,063,800
Ensembl chr 7:15,033,934...15,063,800 		JBrowse link
G Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:129,856,062...130,178,430
Ensembl chr 1:129,856,074...130,176,844 		JBrowse link
G Adamtsl2 ADAMTS-like 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:30,795,882...30,832,635
Ensembl chr 3:30,802,700...30,832,635 		JBrowse link
G Aff3 ALF transcription elongation factor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:47,894,903...48,352,380
Ensembl chr 9:47,894,903...48,353,000 		JBrowse link
G Aga aspartylglucosaminidase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:45,191,215...45,249,537
Ensembl chr16:45,223,339...45,249,551 		JBrowse link
G Agps alkylglycerone phosphate synthase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:81,154,599...81,253,099
Ensembl chr 3:81,154,604...81,258,277 		JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:132,528,107...132,567,237
Ensembl chr  X:132,528,107...132,567,237 		JBrowse link
G Alg12 ALG12, alpha-1,6-mannosyltransferase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:121,774,796...121,789,175
Ensembl chr 7:121,768,234...121,788,983 		JBrowse link
G Alg3 ALG3, alpha-1,3- mannosyltransferase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:93,804,859...93,810,403
Ensembl chr11:93,804,891...93,812,060 		JBrowse link
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:60,013,429...60,085,159
Ensembl chr 8:60,009,618...60,085,054 		JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:119,683,085...119,783,471
Ensembl chr 4:119,683,076...119,783,471 		JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:155,234,770...155,289,785
Ensembl chr 5:155,234,775...155,254,167 		JBrowse link
G Alx1 ALX homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:40,044,185...40,063,778
Ensembl chr 7:40,033,676...40,063,778 		JBrowse link
G Alx3 ALX homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:197,919,381...197,929,795
Ensembl chr 2:197,919,381...197,929,795 		JBrowse link
G Alx4 ALX homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:100,067,052...100,103,624
Ensembl chr 3:100,067,052...100,103,624 		JBrowse link
G Amer1 APC membrane recruitment protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:64,310,492...64,326,377
Ensembl chr  X:64,300,953...64,326,332 		JBrowse link
G Ammecr1 AMMECR nuclear protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:111,262,792...111,368,099
Ensembl chr  X:111,262,792...111,368,099 		JBrowse link
G Ankh ANKH inorganic pyrophosphate transport regulator ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:79,883,350...80,011,222
Ensembl chr 2:79,883,544...80,011,699 		JBrowse link
G Ankrd11 ankyrin repeat domain containing 11 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:67,848,836...68,007,491
Ensembl chr19:67,848,844...68,007,491 		JBrowse link
G Ano5 anoctamin 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:110,222,411...110,323,505
Ensembl chr 1:110,222,446...110,323,501 		JBrowse link
G Antxr2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:11,845,774...11,986,166
Ensembl chr14:11,845,700...11,986,168 		JBrowse link
G Apc2 APC regulator of WNT signaling pathway 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:10,043,010...10,065,037
Ensembl chr 7:10,043,010...10,065,210 		JBrowse link
G Arcn1 archain 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:53,954,401...53,979,005
Ensembl chr 8:53,954,404...53,979,005 		JBrowse link
G Arhgap31 Rho GTPase activating protein 31 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:75,544,176...75,657,087
Ensembl chr11:75,544,040...75,661,076 		JBrowse link
G Arid1b AT-rich interaction domain 1B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:47,973,199...48,328,793
Ensembl chr 1:47,973,997...48,328,793 		JBrowse link
G Arsb arylsulfatase B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:26,736,395...26,895,682
Ensembl chr 2:26,736,957...26,897,611 		JBrowse link
G Arsl arylsulfatase L ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:120,966,992...120,975,015
Ensembl chr 2:120,966,950...120,975,011 		JBrowse link
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:37,608,211...37,640,860
Ensembl chr12:37,472,813...37,640,860 		JBrowse link
G Atr ATR serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:105,306,299...105,403,742
Ensembl chr 8:105,306,305...105,403,718 		JBrowse link
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:171,866,428...171,868,564
Ensembl chr 5:171,864,094...171,874,789 		JBrowse link
G B3gat3 beta-1,3-glucuronyltransferase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:215,246,453...215,253,033
Ensembl chr 1:215,246,482...215,266,876 		JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:9,023,667...9,032,742
Ensembl chr17:9,023,618...9,032,745 		JBrowse link
G Bgn biglycan ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:156,348,633...156,360,797
Ensembl chr  X:156,348,615...156,360,799 		JBrowse link
G Bhlha9 basic helix-loop-helix family, member a9 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:62,011,787...62,012,908
Ensembl chr10:62,011,787...62,012,908 		JBrowse link
G Bmp1 bone morphogenetic protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:51,961,310...52,005,597
Ensembl chr15:51,961,310...52,005,485 		JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:141,264,648...141,275,416
Ensembl chr 3:141,264,646...141,274,760 		JBrowse link
G Bmper BMP-binding endothelial regulator ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:30,008,049...30,253,201
Ensembl chr 8:30,008,148...30,434,359 		JBrowse link
G Bmpr1b bone morphogenetic protein receptor type 1B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:233,211,525...233,544,344
Ensembl chr 2:233,211,525...233,544,311 		JBrowse link
G Bpnt2 3'(2'), 5'-bisphosphate nucleotidase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:22,573,241...22,600,126
Ensembl chr 5:22,570,165...22,600,126 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:69,342,813...69,476,931 		JBrowse link
G Brf1 BRF1 general transcription factor IIIB subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:137,854,055...137,902,629
Ensembl chr 6:137,855,449...137,902,386 		JBrowse link
G Btk Bruton tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:102,016,070...102,055,448
Ensembl chr  X:102,016,074...102,055,143 		JBrowse link
G Btrc beta-transducin repeat containing E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:254,159,085...254,324,819
Ensembl chr 1:254,159,124...254,328,357 		JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Desbuquois syndrome | ClinVar Annotator: match by term: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION
OMIM:251450 | OMIM:615777 		CTD
ClinVar
MouseDO		 PMID:19853239 PMID:25741868 PMID:28492532 PMID:36331722 NCBI chr10:104,135,676...104,148,854
Ensembl chr10:104,135,682...104,148,698 		JBrowse link
G Car2 carbonic anhydrase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:88,462,883...88,478,012
Ensembl chr 2:88,462,872...88,478,064 		JBrowse link
G Casr calcium-sensing receptor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:77,738,398...77,813,639
Ensembl chr11:77,740,614...77,810,167 		JBrowse link
G Cbl Cbl proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:53,384,656...53,468,067 		JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:71,563,835...71,648,352
Ensembl chr14:71,563,835...71,648,331 		JBrowse link
G Ccdc134 coiled-coil domain containing 134 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:115,526,537...115,539,155
Ensembl chr 7:115,524,666...115,539,152 		JBrowse link
G Ccdc8 coiled-coil domain containing 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:86,807,607...86,810,935
Ensembl chr 1:86,806,942...86,814,204 		JBrowse link
G Ccn6 cellular communication network factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:44,123,932...44,139,745
Ensembl chr20:44,123,932...44,139,793 		JBrowse link
G Ccnq cyclin Q ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:64,144,560...64,145,723
Ensembl chr10:64,144,555...64,145,911 		JBrowse link
G Cdc42 cell division cycle 42 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:154,838,478...154,876,629
Ensembl chr 5:154,839,631...154,876,627 		JBrowse link
G Cdc45 cell division cycle 45 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:95,689,702...95,714,980
Ensembl chr11:95,689,919...95,714,981 		JBrowse link
G Cdc6 cell division cycle 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:84,360,361...84,374,239
Ensembl chr10:84,360,381...84,374,241 		JBrowse link
G Cdc73 cell division cycle 73 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:57,897,924...58,000,031
Ensembl chr13:57,883,983...57,999,978 		JBrowse link
G Cdh3 cadherin 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:51,303,414...51,353,900
Ensembl chr19:51,300,083...51,354,257 		JBrowse link
G Cdkn1c cyclin-dependent kinase inhibitor 1C ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:208,084,801...208,087,680
Ensembl chr 1:208,084,787...208,087,498 		JBrowse link
G Cdt1 chromatin licensing and DNA replication factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:67,529,249...67,534,195
Ensembl chr19:67,529,201...67,534,194 		JBrowse link
G Cenpe centromere protein E ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:226,310,970...226,369,636
Ensembl chr 2:226,300,798...226,369,636 		JBrowse link
G Cep120 centrosomal protein 120 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:49,326,266...49,388,380
Ensembl chr18:49,326,266...49,388,243 		JBrowse link
G Cep152 centrosomal protein 152 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:133,243,979...133,332,271
Ensembl chr 3:133,263,174...133,331,655
Ensembl chr 3:133,263,174...133,331,655 		JBrowse link
G Cep290 centrosomal protein 290 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:37,196,765...37,285,955
Ensembl chr 7:37,196,783...37,285,955 		JBrowse link
G Cep63 centrosomal protein 63 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:112,041,586...112,093,061
Ensembl chr 8:112,041,594...112,084,646 		JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:10,687,506...10,694,366
Ensembl chr20:10,687,506...10,694,366 		JBrowse link
G Chst11 carbohydrate sulfotransferase 11 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:22,412,121...22,630,577
Ensembl chr 7:22,415,686...22,630,441 		JBrowse link
G Chst14 carbohydrate sulfotransferase 14 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:126,370,348...126,372,405
Ensembl chr 3:126,370,348...126,372,777 		JBrowse link
G Chst3 carbohydrate sulfotransferase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:28,657,308...28,694,976
Ensembl chr20:28,657,308...28,694,526 		JBrowse link
G Chsy1 chondroitin sulfate synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:129,100,088...129,161,167
Ensembl chr 1:129,100,041...129,161,081 		JBrowse link
G Cilk1 ciliogenesis associated kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:87,868,294...87,922,995
Ensembl chr 8:87,868,156...87,922,995 		JBrowse link
G Ckap2l cytoskeleton associated protein 2-like ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:136,950,390...136,977,503
Ensembl chr 3:136,950,381...136,977,565 		JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:17,857,260...18,011,844
Ensembl chr  X:17,857,260...18,011,844 		JBrowse link
G Clcn7 chloride voltage-gated channel 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:14,656,261...14,681,632
Ensembl chr10:14,656,245...14,681,631 		JBrowse link
G Cog1 component of oligomeric golgi complex 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:99,192,604...99,207,640
Ensembl chr10:99,194,568...99,208,437 		JBrowse link
G Cog4 component of oligomeric golgi complex 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:55,729,854...55,763,902
Ensembl chr19:55,728,796...55,764,169 		JBrowse link
G Col10a1 collagen type X alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:39,737,536...39,744,518
Ensembl chr20:39,716,822...39,751,440 		JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:204,509,136...204,702,264
Ensembl chr 2:204,509,136...204,702,264 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:4,788,829...4,818,492
Ensembl chr20:4,788,829...4,817,648 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:80,380,458...80,397,461
Ensembl chr10:80,380,453...80,397,460 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:33,518,420...33,553,995 		JBrowse link
G Col27a1 collagen type XXVII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:81,662,822...81,781,502
Ensembl chr 5:81,661,685...81,781,502 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:130,977,561...131,006,627 		JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:34,081,364...34,164,552
Ensembl chr 9:34,003,905...34,164,543 		JBrowse link
G Col9a2 collagen type IX alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:139,892,798...139,910,131
Ensembl chr 5:139,892,798...139,909,855 		JBrowse link
G Col9a3 collagen type IX alpha 3 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:188,089,337...188,112,034
Ensembl chr 3:188,089,403...188,112,270 		JBrowse link
G Colec11 collectin sub-family member 11 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:50,952,357...50,984,845
Ensembl chr 6:50,952,357...50,999,493 		JBrowse link
G Comp cartilage oligomeric matrix protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:19,081,172...19,089,548
Ensembl chr16:19,081,172...19,089,605 		JBrowse link
G Cpap centrosome assembly and centriole elongation protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:34,742,838...34,806,020
Ensembl chr15:34,742,838...34,802,421 		JBrowse link
G Cplane1 ciliogenesis and planar polarity effector complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:58,996,119...59,096,817
Ensembl chr 2:58,996,130...59,096,817 		JBrowse link
G Creb3l1 cAMP responsive element binding protein 3-like 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:98,408,240...98,449,104
Ensembl chr 3:98,408,058...98,449,104 		JBrowse link
G Crebbp CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,822,620...11,968,266 		JBrowse link
G Cript CXXC repeat containing interactor of PDZ3 domain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:13,334,978...13,342,934
Ensembl chr 6:13,334,954...13,345,044 		JBrowse link
G Crtap cartilage associated protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:122,926,117...122,945,843
Ensembl chr 8:122,926,117...122,945,843 		JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:56,834,152...56,860,804
Ensembl chr18:56,817,049...56,860,806 		JBrowse link
G Csgalnact1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:25,761,946...26,097,306
Ensembl chr16:26,002,530...26,096,065 		JBrowse link
G Ctsa cathepsin A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:173,988,443...173,994,320
Ensembl chr 3:173,988,460...173,995,539 		JBrowse link
G Ctsk cathepsin K ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:185,747,548...185,758,512
Ensembl chr 2:185,747,165...185,765,582 		JBrowse link
G Cul7 cullin 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:21,816,703...21,830,344
Ensembl chr 9:21,816,703...21,830,344 		JBrowse link
G Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:118,599,356...118,616,176
Ensembl chr 4:118,599,356...118,616,176 		JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:64,756,626...64,761,570
Ensembl chr 7:64,756,626...64,761,570 		JBrowse link
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:178,166,984...178,232,191
Ensembl chr 1:178,219,704...178,232,423 		JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:84,726,412...84,851,032
Ensembl chr13:84,731,180...84,850,288 		JBrowse link
G Ddrgk1 DDRGK domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:138,315,006...138,336,691
Ensembl chr 3:138,315,282...138,335,766 		JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:126,573,366...126,599,940
Ensembl chr 5:126,573,338...126,599,936 		JBrowse link
G Dhodh dihydroorotate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:54,460,636...54,483,049
Ensembl chr19:54,468,690...54,514,496 		JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:92,689,577...92,698,125
Ensembl chr 1:92,689,577...92,697,406 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:126,770,945...126,780,769
Ensembl chr 3:126,770,794...126,780,763 		JBrowse link
G Dlx3 distal-less homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:80,561,335...80,566,730
Ensembl chr10:80,561,335...80,566,711 		JBrowse link
G Dlx5 distal-less homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:35,965,579...35,969,973
Ensembl chr 4:35,965,579...35,969,845 		JBrowse link
G Dlx6 distal-less homeobox 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:35,951,005...35,956,354
Ensembl chr 4:35,951,005...35,956,354 		JBrowse link
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:5,833,111...5,867,154
Ensembl chr14:5,833,111...5,843,993 		JBrowse link
G Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:61,146,669...61,173,908
Ensembl chr 2:61,145,142...61,174,126 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:32,512,070...32,614,970 		JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:28,618,523...28,670,741
Ensembl chr 8:28,618,523...28,670,648 		JBrowse link
G Donson DNA replication fork stabilization factor DONSON ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:44,405,794...44,419,099
Ensembl chr11:44,405,804...44,418,791 		JBrowse link
G Dpcd deleted in primary ciliary dyskinesia ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:254,357,755...254,375,918
Ensembl chr 1:254,357,778...254,375,918 		JBrowse link
G Dpf2 double PHD fingers 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:212,612,986...212,628,376
Ensembl chr 1:212,612,986...212,628,289 		JBrowse link
G Dpm1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:177,338,855...177,358,398
Ensembl chr 3:177,338,855...177,358,412 		JBrowse link
G Dse dermatan sulfate epimerase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:26,661,326...26,740,011
Ensembl chr20:26,661,326...26,740,114 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:171,738,911...171,750,967
Ensembl chr 5:171,739,133...171,750,966 		JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:93,869,834...93,887,013
Ensembl chr11:93,869,834...93,886,903 		JBrowse link
G Dym dymeclin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:70,879,835...71,176,006
Ensembl chr18:70,880,255...71,176,004 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:12,473,955...12,697,075
Ensembl chr 8:12,473,955...12,697,058 		JBrowse link
G Dync2i1 dynein 2 intermediate chain 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:143,276,441...143,333,006
Ensembl chr 6:143,276,441...143,331,773 		JBrowse link
G Dync2i2 dynein 2 intermediate chain 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:33,703,882...33,719,960
Ensembl chr 3:33,703,882...33,719,960 		JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:15,745,350...15,778,166
Ensembl chr 6:15,745,350...15,778,166 		JBrowse link
G Dynlt2b dynein light chain Tctex-type 2B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:81,864,195...81,872,555
Ensembl chr11:81,864,195...81,872,555 		JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:16,971,372...16,977,782
Ensembl chr  X:16,971,405...16,977,781 		JBrowse link
G Ecel1 endothelin converting enzyme-like 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:95,267,417...95,276,508
Ensembl chr 9:95,264,618...95,274,575 		JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,660,799...22,666,687 		JBrowse link
G Ednra endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:47,137,360...47,207,961
Ensembl chr19:47,137,771...47,201,284 		JBrowse link
G Efl1 elongation factor like GTPase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:146,047,734...146,172,719
Ensembl chr 1:146,048,592...146,173,532 		JBrowse link
G Efnb1 ephrin B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:68,297,529...68,310,335
Ensembl chr  X:68,297,492...68,349,546 		JBrowse link
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:88,304,992...88,352,229
Ensembl chr10:88,304,992...88,346,299 		JBrowse link
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:104,363,838...104,425,271
Ensembl chr 4:104,363,833...104,425,268 		JBrowse link
G Eif4a3 eukaryotic translation initiation factor 4A3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:105,047,567...105,057,561
Ensembl chr10:105,047,568...105,058,207 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:22,518,051...22,583,044
Ensembl chr 1:22,518,069...22,583,044 		JBrowse link
G Eogt EGF domain specific O-linked N-acetylglucosamine transferase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:131,275,587...131,313,243
Ensembl chr 4:131,276,573...131,311,926 		JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:114,946,982...115,058,574 		JBrowse link
G Erf Ets2 repressor factor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:89,957,760...89,966,213
Ensembl chr 1:89,957,760...89,966,213 		JBrowse link
G Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:44,210,124...44,230,785
Ensembl chr15:44,210,641...44,231,304
Ensembl chr15:44,210,641...44,231,304 		JBrowse link
G Evc EvC ciliary complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:77,680,901...77,722,608
Ensembl chr14:77,680,943...77,723,100 		JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:77,591,581...77,679,286
Ensembl chr14:77,592,560...77,679,262 		JBrowse link
G Exoc6b exocyst complex component 6B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:118,652,279...119,107,725
Ensembl chr 4:118,652,279...119,107,683 		JBrowse link
G Exosc5 exosome component 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:90,295,495...90,305,047
Ensembl chr 1:90,293,797...90,305,046 		JBrowse link
G Ext1 exostosin glycosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:86,265,651...86,544,488
Ensembl chr 7:86,259,900...86,544,567 		JBrowse link
G Ext2 exostosin glycosyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:100,120,776...100,253,424
Ensembl chr 3:100,120,776...100,253,596 		JBrowse link
G Extl3 exostosin-like glycosyltransferase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:43,469,293...43,559,760
Ensembl chr15:43,471,366...43,495,356 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:77,624,223...77,687,183 		JBrowse link
G Fam111a FAM111 trypsin like peptidase A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:219,065,542...219,081,213
Ensembl chr 1:219,065,601...219,081,211 		JBrowse link
G Fam20b FAM20B, glycosaminoglycan xylosylkinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:71,351,834...71,390,192
Ensembl chr13:71,351,834...71,387,882 		JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:20,940,654...20,999,072
Ensembl chr12:20,940,654...20,998,318 		JBrowse link
G Far1 fatty acyl CoA reductase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:177,078,973...177,140,363
Ensembl chr 1:177,079,150...177,161,696 		JBrowse link
G Fbln1 fibulin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:118,190,347...118,269,965
Ensembl chr 7:118,190,478...118,269,965 		JBrowse link
G Fbn1 fibrillin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		JBrowse link
G Fbn2 fibrillin 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:53,696,197...53,901,992
Ensembl chr18:53,697,708...53,902,191 		JBrowse link
G Fbxw4 F-box and WD repeat domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:254,375,921...254,465,173
Ensembl chr 1:254,375,923...254,463,277 		JBrowse link
G Fermt3 FERM domain containing kindlin 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:213,618,691...213,636,889
Ensembl chr 1:213,618,208...213,636,273 		JBrowse link
G Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:23,466,791...23,509,773
Ensembl chr  X:23,467,530...23,509,979 		JBrowse link
G Fgf10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:52,533,939...52,610,980
Ensembl chr 2:52,533,939...52,610,980 		JBrowse link
G Fgf23 fibroblast growth factor 23 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:161,600,439...161,609,991
Ensembl chr 4:161,600,383...161,609,991 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:254,533,504...254,539,605
Ensembl chr 1:254,533,504...254,539,605 		JBrowse link
G Fgf9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:36,325,552...36,369,995
Ensembl chr15:36,325,599...36,367,926 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:46,183,225...46,306,686
Ensembl chr20:46,183,225...46,306,477 		JBrowse link
G Fkbp10 FKBP prolyl isomerase 10 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:85,845,801...85,858,361
Ensembl chr10:85,844,703...85,858,355 		JBrowse link
G Fkbp14 FKBP prolyl isomerase 14 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:85,035,840...85,051,917
Ensembl chr 4:85,037,145...85,051,808 		JBrowse link
G Flna filamin A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
G Flnb filamin B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:19,392,212...19,525,278
Ensembl chr15:19,392,216...19,525,209 		JBrowse link
G Fmn1 formin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:120,555,445...120,939,978
Ensembl chr 3:120,555,431...120,933,124 		JBrowse link
G Fn1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:80,645,507...80,714,137 		JBrowse link
G Fuca1 alpha-L-fucosidase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:153,436,262...153,453,512
Ensembl chr 5:153,436,248...153,453,511 		JBrowse link
G Fuz fuzzy planar cell polarity protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:104,515,782...104,524,591
Ensembl chr 1:104,516,049...104,521,038 		JBrowse link
G Fzd2 frizzled class receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:88,061,988...88,063,898
Ensembl chr10:88,061,667...88,065,396 		JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:67,537,175...67,570,900
Ensembl chr19:67,534,737...67,571,191 		JBrowse link
G Galnt2 polypeptide N-acetylgalactosaminyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:69,110,657...69,222,237
Ensembl chr19:69,110,657...69,222,237 		JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:71,150,559...71,187,321
Ensembl chr 3:71,150,571...71,174,323 		JBrowse link
G Gcm2 glial cells missing transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:23,858,379...23,867,495
Ensembl chr17:23,858,379...23,867,495 		JBrowse link
G Gdf3 growth differentiation factor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:157,503,547...157,507,923
Ensembl chr 4:157,502,884...157,507,907 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:164,914,401...164,918,593 		JBrowse link
G Gdf6 growth differentiation factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:27,793,561...27,809,884
Ensembl chr 5:27,793,552...27,811,825 		JBrowse link
G Gh1 growth hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:91,727,883...91,729,860
Ensembl chr10:91,727,884...91,729,859 		JBrowse link
G Ghr growth hormone receptor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:54,269,066...54,532,595
Ensembl chr 2:54,270,206...54,532,331 		JBrowse link
G Ghrhr growth hormone releasing hormone receptor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:85,830,345...85,863,127
Ensembl chr 4:85,830,486...85,863,127 		JBrowse link
G Ghsr growth hormone secretagogue receptor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:112,196,158...112,201,666
Ensembl chr 2:112,196,767...112,201,181 		JBrowse link
G Gins2 GINS complex subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:65,535,492...65,548,270
Ensembl chr19:65,535,492...65,548,052 		JBrowse link
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:36,302,490...36,315,010
Ensembl chr20:36,302,352...36,319,689 		JBrowse link
G Glb1 galactosidase, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:122,963,718...123,036,326
Ensembl chr 8:122,963,718...123,036,326 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:32,499,678...32,716,418
Ensembl chr13:32,499,678...32,716,418 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:54,134,064...54,405,198
Ensembl chr17:54,134,064...54,405,198 		JBrowse link
G Gmnn geminin, DNA replication inhibitor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:40,729,760...40,738,077
Ensembl chr17:40,729,824...40,738,068 		JBrowse link
G Gnai3 G protein subunit alpha i3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:198,430,920...198,468,874 JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:183,503,243...183,554,536 		JBrowse link
G Gnpat glyceronephosphate O-acyltransferase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:69,719,707...69,746,244
Ensembl chr19:69,719,394...69,746,244 		JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:21,076,129...21,088,526
Ensembl chr15:21,076,130...21,088,423 		JBrowse link
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:24,687,923...24,754,821
Ensembl chr 7:24,687,969...24,754,821 		JBrowse link
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:14,756,685...14,761,636 JBrowse link
G Gns glucosamine (N-acetyl)-6-sulfatase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:58,774,625...58,808,650
Ensembl chr 7:58,774,625...58,808,650 		JBrowse link
G Gorab golgin, RAB6-interacting ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:78,278,868...78,295,490
Ensembl chr13:78,278,871...78,295,488 		JBrowse link
G Gpc3 glypican 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:136,789,770...137,157,598
Ensembl chr  X:136,789,770...137,157,639 		JBrowse link
G Gpc6 glypican 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:100,437,415...101,435,038
Ensembl chr15:100,437,943...101,435,027 		JBrowse link
G Gpr161 G protein-coupled receptor 161 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:80,111,271...80,156,517
Ensembl chr13:80,117,114...80,152,861 		JBrowse link
G Gpx4 glutathione peroxidase 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:10,300,833...10,303,629
Ensembl chr 7:10,300,832...10,303,629 		JBrowse link
G Gsc goosecoid homeobox ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:129,152,836...129,154,875
Ensembl chr 6:129,152,836...129,154,875 		JBrowse link
G Gusb glucuronidase, beta ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:32,337,281...32,350,838
Ensembl chr12:32,334,075...32,363,024 		JBrowse link
G Gzf1 GDNF-inducible zinc finger protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:156,572,152...156,584,369
Ensembl chr 3:156,572,250...156,584,363 		JBrowse link
G H19 H19 imprinted maternally expressed transcript ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:207,160,175...207,162,851 JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:16,598,325...16,617,590
Ensembl chr 6:16,598,087...16,617,356 		JBrowse link
G Hdac4 histone deacetylase 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:99,950,972...100,200,994
Ensembl chr 9:99,955,116...100,197,637 		JBrowse link
G Hdac8 histone deacetylase 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:71,425,240...71,632,865
Ensembl chr  X:71,394,928...71,632,865 		JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:54,322,971...54,327,776
Ensembl chr10:54,322,971...54,327,776 		JBrowse link
G Hesx1 HESX homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:2,198,589...2,200,694
Ensembl chr16:2,198,589...2,200,694 		JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:72,807,967...72,840,180
Ensembl chr16:72,807,849...72,840,176 		JBrowse link
G Hmga2 high mobility group AT-hook 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:57,762,710...57,884,555
Ensembl chr 7:57,765,675...57,880,341 		JBrowse link
G Hoxa11 homeobox A11 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:82,673,139...82,676,801
Ensembl chr 4:82,673,140...82,676,844 		JBrowse link
G Hoxa13 homeo box A13 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:82,689,566...82,691,701
Ensembl chr 4:82,689,566...82,691,701 		JBrowse link
G Hoxd13 homeo box D13 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:79,978,076...79,981,393 		JBrowse link
G Hpgd 15-hydroxyprostaglandin dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:38,996,876...39,034,831
Ensembl chr16:38,996,876...39,034,831 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:205,725,975...205,729,590 		JBrowse link
G Hs2st1 heparan sulfate 2-O-sulfotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:236,168,391...236,302,186
Ensembl chr 2:236,168,392...236,302,133 		JBrowse link
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:26,810,004...26,832,958
Ensembl chr18:26,804,774...26,828,398 		JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:154,960,818...155,061,971
Ensembl chr 5:154,960,846...155,061,971 		JBrowse link
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:42,170,505...42,179,573
Ensembl chr 8:42,168,546...42,179,725 		JBrowse link
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:99,363,035...99,397,068
Ensembl chr13:99,362,696...99,397,068 		JBrowse link
G Id4 inhibitor of DNA binding 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:16,595,724...16,598,293
Ensembl chr17:16,595,724...16,598,492 		JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:74,027,887...74,057,442
Ensembl chr 9:74,027,892...74,049,555 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:143,447,925...143,467,248
Ensembl chr 1:143,439,323...143,467,248 		JBrowse link
G Ids iduronate 2-sulfatase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:154,070,781...154,093,681
Ensembl chr  X:154,070,781...154,091,444 		JBrowse link
G Idua alpha-L-iduronidase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:1,175,994...1,203,913
Ensembl chr14:1,176,577...1,204,066 		JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:67,635,924...67,683,968
Ensembl chr 3:67,637,545...67,683,968 		JBrowse link
G Ifitm5 interferon induced transmembrane protein 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:205,475,465...205,478,191
Ensembl chr 1:205,475,330...205,476,896 		JBrowse link
G Ift122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:150,577,525...150,648,052
Ensembl chr 4:150,539,786...150,648,052 		JBrowse link
G Ift140 intraflagellar transport 140 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:14,537,134...14,624,926
Ensembl chr10:14,537,466...14,624,926 		JBrowse link
G Ift172 intraflagellar transport 172 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:30,801,841...30,841,239
Ensembl chr 6:30,801,918...30,840,830 		JBrowse link
G Ift43 intraflagellar transport 43 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:111,460,689...111,537,224
Ensembl chr 6:111,456,476...111,537,224 		JBrowse link
G Ift52 intraflagellar transport 52 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:172,091,591...172,116,497
Ensembl chr 3:172,092,017...172,116,493 		JBrowse link
G Ift80 intraflagellar transport 80 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:155,455,773...155,550,082
Ensembl chr 2:155,455,774...155,550,275 		JBrowse link
G Ift81 intraflagellar transport 81 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:39,618,559...39,697,971
Ensembl chr12:39,618,651...39,697,962 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:24,130,137...24,246,764 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:130,959,997...131,248,664 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:207,243,873...207,260,667 		JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:14,397,076...14,408,439
Ensembl chr10:14,403,399...14,407,138 		JBrowse link
G Igsf1 immunoglobulin superfamily, member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:133,947,717...133,963,154
Ensembl chr  X:133,947,429...133,962,962 		JBrowse link
G Ihh Indian hedgehog signaling molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:83,952,986...83,959,203
Ensembl chr 9:83,952,986...83,959,203 		JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:76,021,968...76,075,717
Ensembl chr16:76,022,008...76,081,911 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:157,358,279...157,397,563
Ensembl chr  X:157,367,639...157,392,757 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:27,509,798...27,525,732 		JBrowse link
G Il2rg interleukin 2 receptor subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:70,435,340...70,439,052
Ensembl chr  X:70,435,343...70,439,161 		JBrowse link
G Il6st interleukin 6 cytokine family signal transducer ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:45,798,872...45,839,501
Ensembl chr 2:45,799,380...45,843,182 		JBrowse link
G Inppl1 inositol polyphosphate phosphatase-like 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:165,595,047...165,609,503
Ensembl chr 1:165,595,063...165,609,503 		JBrowse link
G Intu inturned planar cell polarity protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:125,528,965...125,613,295
Ensembl chr 2:125,529,208...125,613,295 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:2,688,535...2,861,443
Ensembl chr15:2,688,811...2,844,343 		JBrowse link
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:96,560,225...96,570,788
Ensembl chr10:96,565,600...96,570,901 		JBrowse link
G Kdelr2 KDEL endoplasmic reticulum protein retention receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:16,252,424...16,270,737
Ensembl chr12:16,252,424...16,270,719 		JBrowse link
G Kiaa0586 KIAA0586 homolog ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:95,358,682...95,461,911
Ensembl chr 6:95,358,619...95,462,148 		JBrowse link
G Kif22 kinesin family member 22 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:191,065,875...191,080,955
Ensembl chr 1:191,065,875...191,080,878 		JBrowse link
G Kif7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:143,041,206...143,067,873
Ensembl chr 1:143,049,036...143,067,890 		JBrowse link
G Kl Klotho ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:5,326,003...5,367,016
Ensembl chr12:5,325,959...5,367,015 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:54,013,547...54,089,219
Ensembl chr 8:54,013,547...54,089,317 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:179,916,255...179,949,613
Ensembl chr 4:179,919,802...179,949,320 		JBrowse link
G Kynu kynureninase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:48,188,286...48,338,996
Ensembl chr 3:48,188,182...48,339,014 		JBrowse link
G Lama5 laminin subunit alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:187,647,904...187,695,974
Ensembl chr 3:187,647,904...187,696,173 		JBrowse link
G Lbr lamin B receptor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:96,071,058...96,095,709
Ensembl chr13:96,071,081...96,095,709 		JBrowse link
G Lbx1 ladybird homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:254,033,009...254,034,826
Ensembl chr 1:254,033,009...254,034,826 		JBrowse link
G Lemd3 LEM domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:58,300,556...58,389,485
Ensembl chr 7:58,316,851...58,384,707 		JBrowse link
G Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:19,144,474...19,152,951
Ensembl chr12:19,124,662...19,152,918 		JBrowse link
G Lhx3 LIM homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:29,424,620...29,432,637
Ensembl chr 3:29,424,620...29,432,637 		JBrowse link
G Lhx4 LIM homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:70,423,768...70,477,337
Ensembl chr13:70,427,399...70,467,505 		JBrowse link
G Lifr LIF receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:57,951,787...58,020,357
Ensembl chr 2:57,952,975...58,020,364 		JBrowse link
G Lmbr1 limb development membrane protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:6,649,824...6,820,525
Ensembl chr 4:6,649,821...6,822,238 		JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:176,237,564...176,288,072 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:37,257,025...37,338,675
Ensembl chr 3:37,259,855...37,338,557 		JBrowse link
G Lonp1 lon peptidase 1, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:1,534,581...1,546,908
Ensembl chr 9:1,534,584...1,547,427 		JBrowse link
G Lpin2 lipin 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:118,529,988...118,604,796
Ensembl chr 9:118,529,943...118,604,796 		JBrowse link
G Lrp4 LDL receptor related protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:97,885,373...97,939,366
Ensembl chr 3:97,885,400...97,939,370 		JBrowse link
G Lrp5 LDL receptor related protein 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:210,243,499...210,346,886
Ensembl chr 1:210,243,502...210,346,822 		JBrowse link
G Lrrk1 leucine-rich repeat kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:129,254,815...129,390,217
Ensembl chr 1:129,254,515...129,389,941 		JBrowse link
G Ltbp1 latent transforming growth factor beta binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:25,781,625...26,177,346
Ensembl chr 6:25,781,638...26,454,036 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:110,161,029...110,261,586
Ensembl chr 6:110,161,029...110,257,298 		JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:212,458,362...212,475,302
Ensembl chr 1:212,459,185...212,475,302 		JBrowse link
G Lyset lysosomal enzyme trafficking factor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:127,649,401...127,651,143
Ensembl chr 6:127,649,450...127,652,661 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:96,991,956...97,008,127
Ensembl chr11:96,991,590...97,007,851 		JBrowse link
G Mafb MAF bZIP transcription factor B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:169,417,890...169,419,810
Ensembl chr 3:169,416,945...169,419,975 		JBrowse link
G Man2b1 mannosidase, alpha, class 2B, member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:39,959,964...39,979,299
Ensembl chr19:39,959,965...39,979,246 		JBrowse link
G Manba mannosidase beta ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:226,583,968...226,676,520
Ensembl chr 2:226,583,917...226,676,517 		JBrowse link
G Map2k1 mitogen activated protein kinase kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:73,578,747...73,650,184
Ensembl chr 8:73,578,752...73,650,184 		JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:9,241,449...9,264,216
Ensembl chr 7:9,241,310...9,260,940 		JBrowse link
G Map3k20 mitogen-activated protein kinase kinase kinase 20 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:77,538,146...77,697,540
Ensembl chr 3:77,537,956...77,697,538 		JBrowse link
G Map3k7 mitogen activated protein kinase kinase kinase 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:51,149,524...51,212,012
Ensembl chr 5:51,154,352...51,212,012 		JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:97,462,025...97,529,193
Ensembl chr11:97,462,025...97,527,825 		JBrowse link
G Matn3 matrilin 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:37,467,729...37,487,776
Ensembl chr 6:37,467,729...37,487,776 		JBrowse link
G Mbtps2 membrane-bound transcription factor peptidase, site 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:41,225,956...41,290,030
Ensembl chr  X:41,254,335...41,277,701 		JBrowse link
G Mcm5 minichromosome maintenance complex component 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:13,488,813...13,510,131
Ensembl chr19:13,488,813...13,517,758 		JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:114,837,815...115,393,052
Ensembl chr 2:114,837,840...115,393,038 		JBrowse link
G Megf8 multiple EGF-like-domains 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:90,030,057...90,079,423
Ensembl chr 1:90,030,388...90,079,422 		JBrowse link
G Meox1 mesenchyme homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:87,318,668...87,338,169
Ensembl chr10:87,318,695...87,337,976 		JBrowse link
G Mesd mesoderm development LRP chaperone ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:147,275,904...147,289,134
Ensembl chr 1:147,275,396...147,289,134 		JBrowse link
G Mesp2 mesoderm posterior bHLH transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:143,165,914...143,168,520
Ensembl chr 1:143,165,849...143,168,511 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:46,756,506...46,870,821 		JBrowse link
G Mgp matrix Gla protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:171,497,472...171,500,888
Ensembl chr 4:171,497,471...171,500,859 		JBrowse link
G Mir140 microRNA 140 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:52,375,293...52,375,391
Ensembl chr19:52,375,293...52,375,391 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:73,152,599...73,167,451
Ensembl chr10:73,153,186...73,163,886 		JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:12,782,829...12,793,108
Ensembl chr 8:12,782,813...12,793,105 		JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:31,857,824...31,867,049
Ensembl chr15:31,857,546...31,869,893 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442 		JBrowse link
G Mnx1 motor neuron and pancreas homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:6,541,645...6,546,604
Ensembl chr 4:6,541,645...6,546,604 		JBrowse link
G Mras muscle RAS oncogene homolog ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:108,823,374...108,886,104
Ensembl chr 8:108,823,374...108,875,911 		JBrowse link
G Msx2 msh homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:11,102,284...11,107,949
Ensembl chr17:11,102,247...11,107,945 		JBrowse link
G Mtap methylthioadenosine phosphorylase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:108,990,270...109,036,494
Ensembl chr 5:108,988,830...109,055,214 		JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:41,446,683...41,452,584
Ensembl chr 6:41,446,684...41,452,508 		JBrowse link
G Myh3 myosin heavy chain 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:52,269,185...52,293,000
Ensembl chr10:52,269,185...52,293,000 		JBrowse link
G Myl11 myosin light chain 11 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:191,257,432...191,263,046
Ensembl chr 1:191,256,196...191,263,045 		JBrowse link
G Myo18b myosin XVIIIb ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:49,421,062...49,614,127
Ensembl chr12:49,407,451...49,614,126 		JBrowse link
G Nadsyn1 NAD synthetase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:208,410,914...208,439,242
Ensembl chr 1:208,410,914...208,439,207 		JBrowse link
G Naglu N-acetyl-alpha-glucosaminidase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:86,501,864...86,509,333
Ensembl chr10:86,501,836...86,509,315 		JBrowse link
G Nans N-acetylneuraminate synthase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:65,575,970...65,593,164
Ensembl chr 5:65,576,015...65,610,547 		JBrowse link
G Nbas NBAS subunit of NRZ tethering complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:41,777,253...42,081,895
Ensembl chr 6:41,755,851...42,081,895 		JBrowse link
G Nek1 NIMA-related kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:34,009,092...34,137,418
Ensembl chr16:34,009,094...34,128,576 		JBrowse link
G Nek9 NIMA-related kinase 9 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:110,675,107...110,715,586
Ensembl chr 6:110,675,107...110,715,586 		JBrowse link
G Neu1 neuraminidase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:3,902,120...3,906,383
Ensembl chr20:3,902,120...3,906,383 		JBrowse link
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,804,266...65,034,946 		JBrowse link
G Nfix nuclear factor I X ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:40,259,873...40,356,966
Ensembl chr19:40,260,084...40,353,092 		JBrowse link
G Nin ninein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:94,261,382...94,363,679
Ensembl chr 6:94,263,206...94,363,610 		JBrowse link
G Nipbl NIPBL, cohesin loading factor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:59,126,676...59,314,841
Ensembl chr 2:59,126,676...59,293,277 		JBrowse link
G Nkx3-2 NK3 homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:73,396,198...73,398,585
Ensembl chr14:73,395,619...73,399,558 		JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:44,826,299...44,853,373
Ensembl chr10:44,828,014...44,853,394 		JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:165,193,301...165,211,213
Ensembl chr 5:165,193,302...165,211,231 		JBrowse link
G Nog noggin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,625,875...74,628,103 		JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:29,676,171...29,721,613 		JBrowse link
G Notch2 notch receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:188,299,336...188,432,823
Ensembl chr 2:188,299,336...188,432,823 		JBrowse link
G Nppc natriuretic peptide C ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:94,767,986...94,772,186
Ensembl chr 9:94,767,986...94,772,186 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:62,678,197...62,697,360
Ensembl chr 5:62,678,367...62,697,343 		JBrowse link
G Npr3 natriuretic peptide receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:62,592,557...62,660,497
Ensembl chr 2:62,597,668...62,660,066 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:193,271,430...193,278,543 		JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:9,317,085...9,431,528
Ensembl chr17:9,317,085...9,452,250 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:81,057,727...81,135,866
Ensembl chr14:81,057,727...81,123,027 		JBrowse link
G Nsdhl NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:155,817,301...155,848,224
Ensembl chr  X:155,817,340...155,848,220 		JBrowse link
G Nsmce2 NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:92,825,568...93,071,037
Ensembl chr 7:92,825,587...93,054,326 		JBrowse link
G Nxn nucleoredoxin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:61,607,557...61,745,807
Ensembl chr10:61,607,568...61,745,807 		JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:84,416,447...84,442,415
Ensembl chr 9:84,416,240...84,442,415 		JBrowse link
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:31,647,000...31,687,768
Ensembl chr  X:31,647,000...31,687,884 		JBrowse link
G Orc1 origin recognition complex, subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:128,552,975...128,581,943
Ensembl chr 5:128,552,991...128,577,071 		JBrowse link
G Orc4 origin recognition complex, subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:53,700,046...53,743,293
Ensembl chr 3:53,703,615...53,742,264 		JBrowse link
G Orc6 origin recognition complex, subunit 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:37,931,085...37,938,856
Ensembl chr19:37,931,090...37,938,856 		JBrowse link
G Ostm1 osteoclastogenesis associated transmembrane protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:47,653,696...47,769,248
Ensembl chr20:47,653,670...47,769,237 		JBrowse link
G Otx2 orthodenticle homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:24,422,876...24,432,709
Ensembl chr15:24,422,876...24,432,472 		JBrowse link
G P3h1 prolyl 3-hydroxylase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:138,127,240...138,141,974
Ensembl chr 5:138,126,860...138,142,836 		JBrowse link
G P4hb prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:106,335,300...106,346,911
Ensembl chr10:106,335,300...106,346,911 		JBrowse link
G Pam16 presequence translocase associated motor 16 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:11,449,316...11,457,071
Ensembl chr10:11,449,117...11,460,526 		JBrowse link
G Pappa2 pappalysin 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:73,407,385...73,683,699
Ensembl chr13:73,407,385...73,681,568 		JBrowse link
G Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:239,867,597...239,952,614
Ensembl chr 1:239,867,574...239,952,616 		JBrowse link
G Pax3 paired box 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:87,015,960...87,112,531
Ensembl chr 9:87,016,999...87,124,141 		JBrowse link
G Pcnt pericentrin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:12,189,767...12,278,179
Ensembl chr20:12,192,353...12,278,178 		JBrowse link
G Pcyt1a phosphate cytidylyltransferase 1A, choline ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:81,818,914...81,862,623
Ensembl chr11:81,819,285...81,862,395 		JBrowse link
G Pde3a phosphodiesterase 3A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:175,904,276...176,170,531
Ensembl chr 4:175,904,077...176,169,270 		JBrowse link
G Pde4d phosphodiesterase 4D ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:41,748,337...43,262,567
Ensembl chr 2:42,110,838...43,262,569 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:158,956,973...158,983,581
Ensembl chr 4:158,956,974...158,982,733 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:21,755,747...21,767,939
Ensembl chr 9:21,755,751...21,767,908 		JBrowse link
G Pex7 peroxisomal biogenesis factor 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:16,402,319...16,466,304
Ensembl chr 1:16,402,320...16,466,366 		JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:41,422,561...41,671,226
Ensembl chr  X:41,426,101...41,671,226 		JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:188,595,700...188,624,789
Ensembl chr 2:188,595,700...188,624,789 		JBrowse link
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:151,173,486...151,185,748
Ensembl chr 5:151,173,044...151,185,376 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:34,612,946...34,697,660
Ensembl chr 2:34,612,946...34,626,347 		JBrowse link
G Pisd phosphatidylserine decarboxylase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:82,166,401...82,215,479
Ensembl chr14:82,166,412...82,215,913 		JBrowse link
G Pitx1 paired-like homeodomain 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:8,794,051...8,805,477
Ensembl chr17:8,799,319...8,805,476 		JBrowse link
G Pitx2 paired-like homeodomain 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:220,391,417...220,411,588
Ensembl chr 2:220,391,888...220,411,591 		JBrowse link
G Pkdcc protein kinase domain containing, cytoplasmic ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:17,208,171...17,217,488
Ensembl chr 6:17,208,171...17,218,042 		JBrowse link
G Plag1 PLAG1 zinc finger ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:21,699,650...21,754,325
Ensembl chr 5:21,702,987...21,711,240 		JBrowse link
G Plcb3 phospholipase C beta 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:213,572,499...213,589,585
Ensembl chr 1:213,574,166...213,589,583 		JBrowse link
G Plcb4 phospholipase C, beta 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:143,405,721...143,775,129
Ensembl chr 3:143,405,950...143,775,113 		JBrowse link
G Plekhm1 pleckstrin homology and RUN domain containing M1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:88,814,699...88,876,570
Ensembl chr10:88,814,699...88,862,544 		JBrowse link
G Plk4 polo-like kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:125,730,480...125,748,894
Ensembl chr 2:125,730,460...125,748,892 		JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:163,623,847...163,650,737
Ensembl chr 5:163,623,848...163,651,110 		JBrowse link
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:101,964,318...102,047,022
Ensembl chr 8:101,964,318...102,047,022 		JBrowse link
G Pls3 plastin 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:116,401,247...116,495,898
Ensembl chr  X:116,401,293...116,495,893 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:6,372,284...6,401,632
Ensembl chr12:6,372,293...6,401,631 		JBrowse link
G Poc1a POC1 centriolar protein A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:115,801,335...115,869,812
Ensembl chr 8:115,801,396...115,870,392 		JBrowse link
G Pole DNA polymerase epsilon, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:52,005,155...52,053,761
Ensembl chr12:52,005,155...52,053,662 		JBrowse link
G Poll DNA polymerase lambda ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:254,349,229...254,357,689
Ensembl chr 1:254,349,231...254,358,020 		JBrowse link
G Polr1a RNA polymerase I subunit A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:105,508,305...105,572,272
Ensembl chr 4:105,508,248...105,574,036 		JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:22,233,318...22,237,430
Ensembl chr 9:22,233,305...22,237,428 		JBrowse link
G Polr1d RNA polymerase I and III subunit D ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:13,084,505...13,118,069
Ensembl chr12:13,084,512...13,095,627 		JBrowse link
G Polr3a RNA polymerase III subunit A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:56,066...95,060
Ensembl chr16:56,066...95,060 		JBrowse link
G Polr3b RNA polymerase III subunit B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:20,926,866...21,030,133
Ensembl chr 7:20,926,866...21,033,654 		JBrowse link
G Pop1 POP1 homolog, ribonuclease P/MRP subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:67,590,502...67,618,187
Ensembl chr 7:67,590,522...67,618,293 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:26,587,674...26,655,612
Ensembl chr12:26,587,674...26,635,809 		JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:16,763,312...16,781,295
Ensembl chr11:16,763,552...16,781,292 		JBrowse link
G Ppib peptidylprolyl isomerase B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:75,498,966...75,504,823
Ensembl chr 8:75,498,797...75,504,847 		JBrowse link
G Ppm1d protein phosphatase, Mg2+/Mn2+ dependent, 1D ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:70,670,026...70,706,030
Ensembl chr10:70,670,020...70,706,256 		JBrowse link
G Ppp1cb protein phosphatase 1 catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:29,681,099...29,712,835
Ensembl chr 6:29,681,100...29,712,924 		JBrowse link
G Ppp1r21 protein phosphatase 1, regulatory subunit 21 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:11,655,059...11,724,219
Ensembl chr 6:11,655,059...11,724,219 		JBrowse link
G Prkaca protein kinase cAMP-activated catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:41,059,843...41,083,189
Ensembl chr19:41,059,843...41,086,494 		JBrowse link
G Prkacb protein kinase cAMP-activated catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:238,297,140...238,389,317
Ensembl chr 2:238,300,127...238,386,315 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:95,120,537...95,139,028
Ensembl chr10:95,120,487...95,139,025 		JBrowse link
G Prkg2 protein kinase cGMP-dependent 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:10,864,020...10,972,617
Ensembl chr14:10,864,186...10,972,614 		JBrowse link
G Prokr2 prokineticin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:140,077,629...140,092,327
Ensembl chr 3:140,077,630...140,092,093 		JBrowse link
G Prop1 PROP paired-like homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:35,772,968...35,775,443
Ensembl chr10:35,772,968...35,775,443 		JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:222,623,553...222,646,187
Ensembl chr 1:222,623,556...222,655,693 		JBrowse link
G Psmb1 proteasome 20S subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:65,115,770...65,136,516
Ensembl chr 1:65,114,724...65,136,640 		JBrowse link
G Ptdss1 phosphatidylserine synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:65,730,250...65,792,024
Ensembl chr 7:65,729,629...65,794,359 		JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:119,572,295...119,597,405
Ensembl chr 8:119,575,868...119,598,108 		JBrowse link
G Pthlh parathyroid hormone-like hormone ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:181,919,400...181,930,454
Ensembl chr 4:181,919,400...181,930,454 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:41,026,079...41,085,577
Ensembl chr12:41,043,785...41,085,577 		JBrowse link
G Puf60 poly-U binding splicing factor 60 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:109,663,490...109,674,443
Ensembl chr 7:109,663,490...109,674,724 		JBrowse link
G Pycr1 pyrroline-5-carboxylate reductase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:106,416,056...106,420,982
Ensembl chr10:106,412,576...106,423,393 		JBrowse link
G Rab23 RAB23, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:43,440,047...43,463,327
Ensembl chr 9:43,440,273...43,463,325 		JBrowse link
G Rab33b RAB33B, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:137,678,953...137,689,581
Ensembl chr 2:137,678,978...137,689,581 		JBrowse link
G Rac3 Rac family small GTPase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:106,501,133...106,503,569
Ensembl chr10:106,501,135...106,503,569 		JBrowse link
G Rad21 RAD21 cohesin complex component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:85,177,715...85,204,657
Ensembl chr 7:85,177,716...85,204,657 		JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:150,352,158...150,412,813
Ensembl chr 4:150,352,160...150,412,813 		JBrowse link
G Rala RAS like proto-oncogene A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:51,787,682...51,840,738
Ensembl chr17:51,787,699...51,840,733 		JBrowse link
G Rasgrp2 RAS guanyl releasing protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:213,135,034...213,152,246
Ensembl chr 1:213,136,015...213,151,884 		JBrowse link
G Rbbp8 RB binding protein 8, endonuclease ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:3,198,188...3,263,643
Ensembl chr18:3,197,310...3,263,985 		JBrowse link
G Rbm8a RNA binding motif protein 8A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:186,854,018...186,856,802
Ensembl chr 2:186,854,036...186,856,802 		JBrowse link
G Rbpj recombination signal binding protein for immunoglobulin kappa J region ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:61,551,366...61,736,220
Ensembl chr14:61,551,366...61,736,307 		JBrowse link
G Recql4 RecQ like helicase 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:110,304,092...110,311,426
Ensembl chr 7:110,304,094...110,311,258 		JBrowse link
G Rig1 RNA sensor RIG-1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:60,117,398...60,165,995
Ensembl chr 5:60,117,398...60,165,995 		JBrowse link
G Ripply2 ripply transcriptional repressor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:96,854,393...96,858,963
Ensembl chr 8:96,854,508...96,858,963 		JBrowse link
G Rit1 Ras-like without CAAX 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:176,478,616...176,493,269
Ensembl chr 2:176,478,596...176,494,684 		JBrowse link
G Rnpc3 RNA-binding region (RNP1, RRM) containing 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:204,121,191...204,145,128
Ensembl chr 2:204,121,193...204,145,128 		JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:12,124,749...12,300,044
Ensembl chr17:12,124,749...12,300,044 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:31,865,050...31,957,930
Ensembl chr19:31,865,231...31,957,930 		JBrowse link
G Rpl10 ribosomal protein L10 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:157,205,850...157,208,057
Ensembl chr  X:157,205,836...157,208,049 		JBrowse link
G Rpl13 ribosomal protein L13 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:68,062,442...68,065,065
Ensembl chr19:68,062,493...68,065,059 		JBrowse link
G Rras RAS related ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:104,637,061...104,640,841
Ensembl chr 1:104,634,951...104,640,841 		JBrowse link
G Rras2 RAS related 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:177,668,143...177,737,551
Ensembl chr 1:177,668,144...177,737,551 		JBrowse link
G Rreb1 ras responsive element binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:27,082,217...27,208,061
Ensembl chr17:27,082,227...27,208,061 		JBrowse link
G Rspo2 R-spondin 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:75,987,217...76,123,984
Ensembl chr 7:75,987,817...76,123,654 		JBrowse link
G Rspry1 ring finger and SPRY domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:10,358,423...10,408,988
Ensembl chr19:10,359,795...10,407,076 		JBrowse link
G Runx2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:23,664,952...23,990,027 		JBrowse link
G Sall1 spalt-like transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:34,179,316...34,196,278
Ensembl chr19:34,181,078...34,196,278 		JBrowse link
G Sall4 spalt-like transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:177,891,705...177,909,743
Ensembl chr 3:177,891,705...177,909,743 		JBrowse link
G Satb2 SATB homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:65,842,351...66,028,569
Ensembl chr 9:65,844,570...66,021,238 		JBrowse link
G Sbds Sbds, ribosome maturation factor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:32,056,649...32,065,816
Ensembl chr12:32,056,518...32,065,813 		JBrowse link
G Scarf2 scavenger receptor class F, member 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:96,680,237...96,691,686
Ensembl chr11:96,680,243...96,691,626 		JBrowse link
G Scube3 signal peptide, CUB domain and EGF like domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:6,200,891...6,232,848
Ensembl chr20:6,200,178...6,233,051 		JBrowse link
G Sec24d SEC24 homolog D, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:214,103,138...214,211,155
Ensembl chr 2:214,103,190...214,211,144 		JBrowse link
G Sema3a semaphorin 3A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:22,239,418...22,709,907
Ensembl chr 4:22,245,322...22,535,774 		JBrowse link
G Serpinf1 serpin family F member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,748,506...60,760,898 		JBrowse link
G Serpinh1 serpin family H member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:163,055,630...163,063,177
Ensembl chr 1:163,055,630...163,062,976 		JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:119,390,207...119,475,863
Ensembl chr 8:119,390,207...119,475,863 		JBrowse link
G Sf3b4 splicing factor 3B subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:186,421,667...186,426,419
Ensembl chr 2:186,421,636...186,426,833 		JBrowse link
G Sfrp4 secreted frizzled-related protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:49,974,532...50,026,448
Ensembl chr17:50,015,812...50,026,395 		JBrowse link
G Sgms2 sphingomyelin synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:222,567,661...222,641,804
Ensembl chr 2:222,567,664...222,590,807 		JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:105,095,336...105,112,037
Ensembl chr10:105,095,336...105,112,009 		JBrowse link
G Sh3bp2 SH3-domain binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:80,400,685...80,437,887
Ensembl chr14:80,400,685...80,437,906 		JBrowse link
G Sh3pxd2b SH3 and PX domains 2B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:17,422,906...17,538,977
Ensembl chr10:17,422,947...17,512,854 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:7,687,846...7,697,901 		JBrowse link
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:262,964,345...263,052,898
Ensembl chr 1:262,965,011...263,052,634 		JBrowse link
G Shox1 SHOX homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:121,553,770...121,560,788 JBrowse link
G Ski Ski proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:170,995,851...171,064,957
Ensembl chr 5:170,995,851...171,064,957 		JBrowse link
G Slc10a7 solute carrier family 10, member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:46,087,440...46,311,753
Ensembl chr19:46,049,631...46,311,753 		JBrowse link
G Slc17a5 solute carrier family 17 member 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:88,274,497...88,309,734
Ensembl chr 8:88,274,721...88,309,664 		JBrowse link
G Slc25a24 solute carrier family 25 member 24 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:199,449,425...199,487,287
Ensembl chr 2:199,449,345...199,487,290 		JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:56,918,662...56,937,032
Ensembl chr18:56,923,337...56,937,012 		JBrowse link
G Slc29a3 solute carrier family 29 member 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:29,191,086...29,228,299
Ensembl chr20:29,191,127...29,228,299 		JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:28,442,455...28,447,997
Ensembl chr 3:28,442,457...28,447,997 		JBrowse link
G Slc35c1 solute carrier family 35 member C1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:98,877,413...98,887,411
Ensembl chr 3:98,877,048...98,884,216 		JBrowse link
G Slc35d1 solute carrier family 35 member D1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:123,157,739...123,210,350
Ensembl chr 5:123,155,407...123,210,073 		JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:97,495,229...97,504,279
Ensembl chr 3:97,495,229...97,505,052 		JBrowse link
G Slco2a1 solute carrier organic anion transporter family, member 2a1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:112,467,739...112,551,923
Ensembl chr 8:112,467,160...112,551,921 		JBrowse link
G Slco5a1 solute carrier organic anion transporter family, member 5A1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:11,012,001...11,141,180
Ensembl chr 5:11,012,075...11,141,177 		JBrowse link
G Smad2 SMAD family member 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:72,124,792...72,193,345
Ensembl chr18:72,124,863...72,187,388 		JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:73,022,204...73,132,324
Ensembl chr 8:73,024,760...73,132,324 		JBrowse link
G Smad4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:69,518,988...69,549,684
Ensembl chr18:69,518,988...69,549,684 		JBrowse link
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:28,438,370...28,535,071
Ensembl chr 8:28,443,810...28,535,070 		JBrowse link
G Smarcal1 SNF2 related chromatin remodeling annealing helicase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:81,689,446...81,735,406
Ensembl chr 9:81,689,531...81,735,396 		JBrowse link
G Smarcb1 SWI/SNF related BAF chromatin remodeling complex subunit B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:12,740,105...12,763,054
Ensembl chr20:12,740,943...12,763,055 		JBrowse link
G Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:84,655,468...84,678,259
Ensembl chr10:84,655,468...84,676,185 		JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:24,582,732...24,627,462
Ensembl chr  X:24,582,690...24,627,462 		JBrowse link
G Smc3 structural maintenance of chromosomes 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:262,606,731...262,649,832
Ensembl chr 1:262,607,080...262,649,825 		JBrowse link
G Smoc2 SPARC related modular calcium binding 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:63,935,627...64,064,952
Ensembl chr 1:63,935,647...64,064,955 		JBrowse link
G Snrpb small nuclear ribonucleoprotein polypeptides B and B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:137,824,870...137,832,479
Ensembl chr 3:137,824,683...137,832,515 		JBrowse link
G Snx10 sorting nexin 10 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:81,943,262...82,007,667
Ensembl chr 4:81,943,287...82,007,651 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:20,286,117...20,363,350
Ensembl chr 6:20,286,117...20,363,350 		JBrowse link
G Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:93,778,971...93,892,161
Ensembl chr 6:93,778,971...93,892,811 		JBrowse link
G Sost sclerostin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:87,412,722...87,415,766
Ensembl chr10:87,411,721...87,415,766 		JBrowse link
G Sox2 SRY-box transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:119,465,131...119,467,542
Ensembl chr 2:119,454,541...119,496,350 		JBrowse link
G Sox3 SRY-box transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:144,344,892...144,346,971
Ensembl chr  X:144,344,892...144,346,987 		JBrowse link
G Sox9 SRY-box transcription factor 9 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:98,305,744...98,311,250
Ensembl chr10:98,305,744...98,311,250 		JBrowse link
G Sp7 Sp7 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:135,363,193...135,373,376
Ensembl chr 7:135,363,199...135,373,559 		JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:40,017,065...40,038,816
Ensembl chr10:40,017,075...40,039,268 		JBrowse link
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:13,337,399...13,443,080
Ensembl chr20:13,339,108...13,443,079 		JBrowse link
G Spink5 serine peptidase inhibitor, Kazal type 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:36,515,347...36,584,038
Ensembl chr18:36,515,347...36,583,799 		JBrowse link
G Spr sepiapterin reductase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:119,229,447...119,233,320
Ensembl chr 4:119,229,447...119,233,179 		JBrowse link
G Spred1 sprouty-related, EVH1 domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:124,437,230...124,504,358
Ensembl chr 3:124,437,230...124,504,358 		JBrowse link
G Spred2 sprouty-related, EVH1 domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:98,350,577...98,452,143
Ensembl chr14:98,350,290...98,452,143 		JBrowse link
G Srcap Snf2-related CREBBP activator protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:191,554,043...191,607,096
Ensembl chr 1:191,554,043...191,604,265 		JBrowse link
G Srp54a signal recognition particle 54A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:78,322,308...78,362,017
Ensembl chr 6:78,322,721...78,362,031 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:86,311,528...86,363,513
Ensembl chr10:86,311,535...86,363,359 		JBrowse link
G Stat5b signal transducer and activator of transcription 5B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:86,205,148...86,276,178
Ensembl chr10:86,207,293...86,275,990 		JBrowse link
G Stim1 stromal interaction molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:166,067,450...166,230,733
Ensembl chr 1:166,067,962...166,233,108 		JBrowse link
G Sulf1 sulfatase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:11,145,950...11,308,622
Ensembl chr 5:11,145,950...11,308,643 		JBrowse link
G Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:4,195,400...4,245,485
Ensembl chr 1:4,195,400...4,245,485 		JBrowse link
G Tapt1 transmembrane anterior posterior transformation 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:71,085,966...71,132,228
Ensembl chr14:71,085,316...71,132,232 		JBrowse link
G Tbce tubulin folding cofactor E ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:55,983,627...56,031,578
Ensembl chr17:55,985,707...56,032,302 		JBrowse link
G Tbx15 T-box transcription factor 15 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:189,265,373...189,376,466
Ensembl chr 2:189,265,373...189,376,466 		JBrowse link
G Tbx3 T-box transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:42,540,378...42,555,490
Ensembl chr12:42,540,378...42,554,171 		JBrowse link
G Tbx4 T-box transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:71,228,145...71,258,222
Ensembl chr10:71,197,727...71,258,218 		JBrowse link
G Tbx5 T-box transcription factor 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:42,342,926...42,399,723
Ensembl chr12:42,348,485...42,395,359 		JBrowse link
G Tbx6 T-box transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:190,818,397...190,823,824
Ensembl chr 1:190,819,229...190,823,138 		JBrowse link
G Tbxas1 thromboxane A synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:68,631,841...68,803,959
Ensembl chr 4:68,631,838...68,803,969 		JBrowse link
G Tcf12 transcription factor 12 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:81,371,201...81,682,337
Ensembl chr 8:81,373,321...81,679,922 		JBrowse link
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:210,556,270...210,568,021
Ensembl chr 1:210,556,270...210,568,033 		JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:56,537,437...56,570,727
Ensembl chr18:56,537,437...56,570,727 		JBrowse link
G Tctn2 tectonic family member 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:37,643,711...37,668,035
Ensembl chr12:37,643,715...37,668,035 		JBrowse link
G Tctn3 tectonic family member 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:249,363,428...249,374,698
Ensembl chr 1:249,363,428...249,374,841 		JBrowse link
G Tent5a terminal nucleotidyltransferase 5A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:95,102,349...95,109,100
Ensembl chr 8:95,105,412...95,109,100 		JBrowse link
G Tgds TDP-glucose 4,6-dehydratase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:101,581,765...101,602,779
Ensembl chr15:101,582,227...101,602,718 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:100,691,540...100,793,227
Ensembl chr13:100,692,953...100,792,856 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:111,435,170...111,457,646
Ensembl chr 6:111,435,170...111,456,946 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:66,449,293...66,527,260 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:124,674,986...124,761,469 		JBrowse link
G Thpo thrombopoietin ISO CTD Direct Evidence: marker/mechanism CTD Ensembl chr11:93,686,834...93,693,320 JBrowse link
G Tmem165 transmembrane protein 165 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:32,347,688...32,372,916
Ensembl chr14:32,347,691...32,372,916 		JBrowse link
G Tmem216 transmembrane protein 216 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:216,621,365...216,627,497
Ensembl chr 1:216,621,376...216,626,519 		JBrowse link
G Tmem231 transmembrane protein 231 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:56,792,329...56,813,515
Ensembl chr19:56,792,329...56,820,094 		JBrowse link
G Tmem38b transmembrane protein 38B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:73,255,662...73,291,383
Ensembl chr 5:73,255,632...73,292,384 		JBrowse link
G Tmem67 transmembrane protein 67 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:30,333,793...30,386,666 		JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:22,442,930...22,501,257
Ensembl chr13:22,442,665...22,501,257 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:87,456,318...87,484,324
Ensembl chr 7:87,456,319...87,485,075 		JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:60,083,008...60,114,479
Ensembl chr15:60,083,008...60,114,479 		JBrowse link
G Tonsl tonsoku-like, DNA repair protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:110,226,696...110,241,459
Ensembl chr 7:110,225,525...110,241,397 		JBrowse link
G Tp63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:88,343,647...88,554,543
Ensembl chr11:88,343,651...88,554,177 		JBrowse link
G Traf3ip1 TRAF3 interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:99,521,176...99,557,966
Ensembl chr 9:99,521,179...99,557,963 		JBrowse link
G Traip TRAF-interacting protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:117,520,476...117,540,253
Ensembl chr 8:117,520,441...117,540,253 		JBrowse link
G Trappc2 trafficking protein particle complex subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:31,617,107...31,647,035
Ensembl chr  X:31,635,706...31,641,443 		JBrowse link
G Trem2 triggering receptor expressed on myeloid cells 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:20,145,215...20,151,797
Ensembl chr 9:20,144,334...20,151,779 		JBrowse link
G Trim37 tripartite motif-containing 37 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:72,440,672...72,572,831
Ensembl chr10:72,440,644...72,572,828 		JBrowse link
G Trip11 thyroid hormone receptor interactor 11 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:126,760,263...126,832,619
Ensembl chr 6:126,760,265...126,832,570 		JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:83,806,121...84,032,609
Ensembl chr 7:83,811,497...84,031,786 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:47,599,161...47,638,143
Ensembl chr12:47,599,035...47,638,143 		JBrowse link
G Trpv6 transient receptor potential cation channel, subfamily V, member 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:71,474,006...71,489,667
Ensembl chr 4:71,474,007...71,489,671 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:71,269,425...71,343,936
Ensembl chr 3:71,269,425...71,343,936 		JBrowse link
G Tti2 TELO2 interacting protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:67,683,721...67,692,881
Ensembl chr16:67,671,390...67,691,588 		JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:56,402,309...56,404,303
Ensembl chr 6:56,398,061...56,404,965 		JBrowse link
G Tyrobp transmembrane immune signaling adaptor Tyrobp ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:94,800,372...94,804,307
Ensembl chr 1:94,800,117...94,804,299 		JBrowse link
G Ufsp2 UFM1-specific peptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:53,004,590...53,023,640
Ensembl chr16:53,004,598...53,023,592 		JBrowse link
G Vac14 VAC14 component of PIKFYVE complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:55,499,962...55,601,290
Ensembl chr19:55,499,946...55,601,288 		JBrowse link
G Vdr vitamin D receptor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757 		JBrowse link
G Vps33a VPS33A core subunit of CORVET and HOPS complexes ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:38,685,484...38,710,668
Ensembl chr12:38,685,538...38,712,277 		JBrowse link
G Vps35l VPS35 endosomal protein sorting factor like ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:182,507,576...182,611,021
Ensembl chr 1:182,507,266...182,613,087 		JBrowse link
G Wdr19 WD repeat domain 19 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:43,396,130...43,460,012
Ensembl chr14:43,397,835...43,459,939 		JBrowse link
G Wdr35 WD repeat domain 35 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:37,490,557...37,550,391
Ensembl chr 6:37,490,545...37,550,664 		JBrowse link
G Wnt1 Wnt family member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:131,817,558...131,821,605
Ensembl chr 7:131,817,558...131,821,605 		JBrowse link
G Wnt10b Wnt family member 10B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:131,801,046...131,806,850
Ensembl chr 7:131,801,046...131,806,850 		JBrowse link
G Wnt3 Wnt family member 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:89,180,224...89,224,195
Ensembl chr10:89,216,801...89,224,195 		JBrowse link
G Wnt5a Wnt family member 5A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:3,702,300...3,724,860
Ensembl chr16:3,703,665...3,724,860 		JBrowse link
G Wnt6 Wnt family member 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:83,778,552...83,792,186
Ensembl chr 9:83,778,552...83,792,186 		JBrowse link
G Wnt7a Wnt family member 7A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:125,420,276...125,466,149
Ensembl chr 4:125,420,276...125,466,149 		JBrowse link
G Xrcc4 X-ray repair cross complementing 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:22,686,506...22,932,929
Ensembl chr 2:22,686,508...22,933,160 		JBrowse link
G Xylt1 xylosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION 		CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 1:181,078,222...181,361,047
Ensembl chr 1:181,078,222...181,361,047 		JBrowse link
G Xylt2 xylosyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:80,102,776...80,116,346
Ensembl chr10:80,102,873...80,116,257 		JBrowse link
G Zbtb16 zinc finger and BTB domain containing 16 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:57,885,886...58,073,507
Ensembl chr 8:57,891,081...58,073,507 		JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:64,525,725...64,556,037
Ensembl chr  X:64,535,241...64,556,042 		JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:139,912,395...139,945,532
Ensembl chr 5:139,913,671...139,945,532 		JBrowse link
G Zswim6 zinc finger, SWIM-type containing 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:40,944,617...41,112,340
Ensembl chr 2:40,946,435...41,112,519 		JBrowse link
Desbuquois Dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cant1 calcium activated nucleotidase 1 ISO ClinVar Annotator: match by term: CANT1-related condition | ClinVar Annotator: match by term: Desbuquois dysplasia 1 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19853239 PMID:20358597 PMID:20358610 More... NCBI chr10:104,135,676...104,148,854
Ensembl chr10:104,135,682...104,148,698 		JBrowse link
G Xylt1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:9536098 PMID:16571645 PMID:17576681 PMID:24581741 PMID:25741868 More... NCBI chr 1:181,078,222...181,361,047
Ensembl chr 1:181,078,222...181,361,047 		JBrowse link
Desbuquois Dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xylt1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 2 OMIM
ClinVar		 PMID:16571645 PMID:22711505 PMID:23982343 PMID:24581741 PMID:25741868 More... NCBI chr 1:181,078,222...181,361,047
Ensembl chr 1:181,078,222...181,361,047 		JBrowse link
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Manf mesencephalic astrocyte-derived neurotrophic factor ISO ClinVar Annotator: match by term: Diabetes, deafness, developmental delay, and short stature syndrome OMIM
ClinVar		 PMID:25741868 PMID:26077850 PMID:33500254 NCBI chr 8:116,427,053...116,430,259
Ensembl chr 8:116,427,048...116,429,910 		JBrowse link
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | ClinVar Annotator: match by term: TSR2-related condition OMIM
ClinVar		 PMID:11424144 PMID:24942156 PMID:25741868 PMID:28492532 NCBI chr  X:23,507,141...23,515,711
Ensembl chr  X:23,507,142...23,515,659 		JBrowse link
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps26 ribosomal protein S26 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:17483715 PMID:19816270 PMID:20116044 PMID:23718193 PMID:24675553 More... NCBI chr 7:1,641,846...1,643,404
Ensembl chr 7:1,641,421...1,643,399 		JBrowse link
G Rps28 ribosomal protein S28 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | ClinVar Annotator: match by term: RPS28-related condition OMIM
ClinVar		 PMID:24942156 PMID:25741868 PMID:28492532 NCBI chr 7:15,309,964...15,311,333
Ensembl chr16:72,591,164...72,591,373
Ensembl chr 7:72,591,164...72,591,373
Ensembl chr16:72,591,164...72,591,373 		JBrowse link
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:11424144 PMID:24942156 NCBI chr  X:23,507,141...23,515,711
Ensembl chr  X:23,507,142...23,515,659 		JBrowse link
Diaphanospondylodysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmper BMP-binding endothelial regulator ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BMPER-related condition | ClinVar Annotator: match by term: Diaphanospondylodysostosis 		OMIM
CTD
ClinVar		 PMID:20869035 PMID:21990102 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 8:30,008,049...30,253,201
Ensembl chr 8:30,008,148...30,434,359 		JBrowse link
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcdh12 protocadherin 12 ISO ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 1 | ClinVar Annotator: match by term: PCDH12-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30178464 NCBI chr18:30,354,910...30,370,485
Ensembl chr18:30,354,910...30,370,485 		JBrowse link
DiGeorge syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh1a2 aldehyde dehydrogenase 1 family, member A2 ISO
ISS 		OMIM:188400 MouseDO
RGD		 PMID:12563036 RGD:734550 NCBI chr 8:80,758,641...80,837,891
Ensembl chr 8:80,758,142...80,837,883 		JBrowse link
G Arvcf ARVCF, delta catenin family member ISO RGD PMID:9126485 RGD:1578806 NCBI chr11:96,092,451...96,150,144
Ensembl chr11:96,092,451...96,150,163 		JBrowse link
G Chrd chordin ISS OMIM:188400 MouseDO NCBI chr11:93,676,400...93,685,584
Ensembl chr11:93,676,400...93,685,278 		JBrowse link
G Comt catechol-O-methyltransferase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 22q11.2 deletion syndrome 		CTD
ClinVar		 PMID:8886163 PMID:15645182 PMID:25741868 NCBI chr11:96,072,371...96,091,956
Ensembl chr11:96,072,489...96,092,533 		JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:188400 		CTD
MouseDO		 PMID:16399080 NCBI chr11:97,033,033...97,067,457
Ensembl chr11:97,024,782...97,067,457 		JBrowse link
G Dgcr2 DiGeorge syndrome critical region gene 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:96,598,247...96,648,791
Ensembl chr11:96,597,197...96,648,786 		JBrowse link
G Dgcr6 DiGeorge syndrome critical region gene 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:96,432,024...96,442,766
Ensembl chr11:96,432,024...96,437,255 		JBrowse link
G Dgcr8 DGCR8 microprocessor complex subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:96,208,959...96,241,560
Ensembl chr11:96,209,038...96,241,551 		JBrowse link
G Dicer1 dicer 1 ribonuclease III ISS OMIM:188400 MouseDO NCBI chr 6:129,392,298...129,457,252
Ensembl chr 6:129,396,014...129,457,252 		JBrowse link
G Dock1 dedicator of cyto-kinesis 1 ISS OMIM:188400 MouseDO NCBI chr 1:198,897,021...199,413,636
Ensembl chr 1:198,897,045...199,413,627 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO RGD PMID:8644734 RGD:1580898 NCBI chr 5:171,738,911...171,750,967
Ensembl chr 5:171,739,133...171,750,966 		JBrowse link
G Ess2 ess-2 splicing factor homolog ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:96,580,185...96,596,673
Ensembl chr11:96,580,169...96,590,146 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:188400 		CTD
MouseDO		 PMID:16399080 NCBI chr 1:254,533,504...254,539,605
Ensembl chr 1:254,533,504...254,539,605 		JBrowse link
G Foxn1 forkhead box N1 ISS OMIM:188400 MouseDO NCBI chr10:63,749,461...63,778,468
Ensembl chr10:63,749,461...63,771,771 		JBrowse link
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 More... NCBI chr12:47,299,171...47,333,457
Ensembl chr12:47,306,245...47,332,755 		JBrowse link
G Hoxa3 homeobox A3 ISS OMIM:188400 MouseDO NCBI chr 4:82,599,860...82,643,831
Ensembl chr 4:82,599,860...82,643,831 		JBrowse link
G Kat6a lysine acetyltransferase 6A ISO
ISS 		OMIM:188400 MouseDO
RGD		 PMID:22921202 RGD:9590333 NCBI chr16:75,787,411...75,868,584
Ensembl chr16:75,787,411...75,866,099 		JBrowse link
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISS OMIM:188400 MouseDO NCBI chr18:56,407,308...56,470,007
Ensembl chr18:56,411,200...56,448,612 		JBrowse link
G Plxnd1 plexin D1 ISS OMIM:188400 MouseDO NCBI chr 4:150,675,377...150,715,706
Ensembl chr 4:150,675,377...150,715,566 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO
ISS 		ClinVar Annotator: match by term: Catch22 | ClinVar Annotator: match by term: DiGeorge Syndrome | ClinVar Annotator: match by term: DiGeorge syndrome | ClinVar Annotator: match by term: Third and fourth pharyngeal pouch syndrome
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Autosomal dominant Opitz G/BBB syndrome | ClinVar Annotator: match by term: Catch22 | ClinVar Annotator: match by term: DiGeorge Syndrome | ClinVar Annotator: match by term: DiGeorge sequence | ClinVar Annotator: match by term: DiGeorge syndrome | ClinVar Annotator: match by term: Familial third and fourth pharyngeal pouch syndrome | ClinVar Annotator: match by term: Thymic aplasia syndrome
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Catch22 | ClinVar Annotator: match by term: DiGeorge sequence | ClinVar Annotator: match by term: DiGeorge syndrome | ClinVar Annotator: match by term: Familial third and fourth pharyngeal pouch syndrome | ClinVar Annotator: match by term: Thymic aplasia syndrome
OMIM:188400
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:11239417 PMID:11242049 PMID:11748311 PMID:14585638 More... RGD:9590333, RGD:1578374, RGD:155641238 NCBI chr11:95,913,610...95,923,392
Ensembl chr11:95,913,610...95,923,392 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISS OMIM:188400 MouseDO NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:124,674,986...124,761,469 		JBrowse link
G Tp53 tumor protein p53 ISO RGD PMID:25197075 RGD:155641238 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299 		JBrowse link
G Ufd1 ubiquitin recognition factor in ER associated degradation 1 ISO RGD PMID:10024240 RGD:1580803 NCBI chr11:95,665,971...95,689,423
Ensembl chr11:95,665,972...95,689,434 		JBrowse link
G Vegfa vascular endothelial growth factor A ISS OMIM:188400 MouseDO NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194 		JBrowse link
G Zfp366 zinc finger protein 366 ISS OMIM:188400 MouseDO NCBI chr 2:32,312,712...32,376,996
Ensembl chr 2:32,312,907...32,374,315 		JBrowse link
Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nebl nebulette ISO ClinVar Annotator: match by term: DiGeorge syndrome/velocardiofacial syndrome complex 2 ClinVar PMID:24033266 PMID:25741868 PMID:25987543 PMID:27186169 PMID:27662471 More... NCBI chr17:85,022,953...85,374,848
Ensembl chr17:85,022,963...85,374,172 		JBrowse link
diphthamide deficiency syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dph1 diphthamide biosynthesis 1 ISO
ISS 		ClinVar Annotator: match by term: DPH1-related condition | ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 OMIM
ClinVar
MouseDO		 PMID:14744934 PMID:24895408 PMID:25558065 PMID:25741868 PMID:26220823 More... NCBI chr10:60,526,417...60,538,102
Ensembl chr10:60,527,680...60,535,816 		JBrowse link
distal arthrogryposis type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 2A (Freeman-Sheldon) OMIM
ClinVar		 PMID:16199547 PMID:16642020 PMID:18695058 PMID:19142688 PMID:25256237 More... NCBI chr10:52,269,185...52,293,000
Ensembl chr10:52,269,185...52,293,000 		JBrowse link
distal arthrogryposis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: CAMPTODACTYLY, CLEFT PALATE, AND CLUBFOOT | ClinVar Annotator: match by term: Camptodactyly, cleft palate, and clubfoot | ClinVar Annotator: match by term: Gordon syndrome OMIM
ClinVar		 PMID:8423615 PMID:11152147 PMID:20813920 PMID:24155313 PMID:24726473 More... NCBI chr18:58,738,734...59,115,252
Ensembl chr18:58,738,740...59,115,215 		JBrowse link
DNA ligase IV deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lig4 DNA ligase 4 ISO
ISS 		ClinVar Annotator: match by term: DNA ligase IV deficiency | ClinVar Annotator: match by term: LIG4-Related Disorders | ClinVar Annotator: match by term: LIG4-related disorder
OMIM:606593
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :p.R278H (mouse)
DNA:missense mutation, nonsense mutation: :p.K449Q (c.1345A>C), p.R814* (c.2440C>T) (human)
DNA:missense mutation: :p.Y288C (mouse) 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1779494 PMID:2489227 PMID:2523926 PMID:5333585 PMID:7063650 More... RGD:13204717, RGD:13204707, RGD:8694074 NCBI chr16:86,220,345...86,228,930
Ensembl chr16:86,220,279...86,229,926 		JBrowse link
Donohue syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Insr insulin receptor ISO ClinVar Annotator: match by term: Donohue syndrome | ClinVar Annotator: match by term: Leprechaunism syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1315125 PMID:1607067 PMID:1657953 PMID:1730625 PMID:2002058 More... NCBI chr12:5,991,135...6,129,275
Ensembl chr12:5,981,835...6,128,803 		JBrowse link
DOORS syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1c1 ATPase H+ transporting V1 subunit C1 ISO ClinVar Annotator: match by term: DOORS syndrome ClinVar PMID:25741868 NCBI chr 7:71,719,326...71,757,191
Ensembl chr 7:71,719,404...71,757,184 		JBrowse link
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME ClinVar PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31465090 NCBI chr19:51,402,178...51,471,572
Ensembl chr19:51,402,034...51,471,565 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: DOORS syndrome ClinVar PMID:25326637 PMID:28492532 NCBI chr11:84,612,943...84,690,025
Ensembl chr11:84,615,340...84,689,955 		JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: DOOR SYNDROME | ClinVar Annotator: match by term: DOORS syndrome OMIM
ClinVar		 PMID:1029242 PMID:3402014 PMID:16199547 PMID:20727515 PMID:22211675 More... NCBI chr10:13,711,930...13,740,902
Ensembl chr10:13,714,833...13,740,473 		JBrowse link
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhoa ras homolog family member A ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES, SOMATIC MOSAIC | ClinVar Annotator: match by term: Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | ClinVar Annotator: match by term: RHOA-related disorder OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31570889 PMID:31821646 PMID:39434542 NCBI chr 8:117,870,548...117,904,303
Ensembl chr 8:117,870,270...117,904,302 		JBrowse link
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asph aspartate-beta-hydroxylase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ASPH-related condition | ClinVar Annotator: match by term: Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs | ClinVar Annotator: match by term: TRABOULSI SYNDROME 		OMIM
CTD
ClinVar		 PMID:11241487 PMID:23687502 PMID:24768550 PMID:25741868 PMID:28492532 More... NCBI chr 5:27,398,933...27,611,519
Ensembl chr 5:27,398,949...27,611,215 		JBrowse link
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 susceptibility ISO
ISS 		DNA:frameshift mutation, missense mutations: :multiple
ClinVar Annotator: match by term: EEC SYNDROME 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
OMIM:604292
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation: :p.Q16X (human)
DNA:missense mutations:exon:p.R280C, p.R304Q (human)
DNA:missense mutation:exon:p.R279H (835G>A) 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:8737655 PMID:9028452 PMID:9443880 PMID:9536098 PMID:10535733 More... RGD:1600403, RGD:11532814, RGD:11568642, RGD:11568640 NCBI chr11:88,343,647...88,554,543
Ensembl chr11:88,343,651...88,554,177 		JBrowse link
EEC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap29 Rho GTPase activating protein 29 ISS MouseDO NCBI chr 2:212,744,626...212,816,710
Ensembl chr 2:212,755,803...212,986,729 		JBrowse link
G Tp63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
DNA:missense mutation:exon:p.A346G (c.1037C>G) (human)
DNA:frameshift mutation, missense mutations:exon:multiple
DNA:missense mutations: :multiple
DNA:missense mutation:exon:p.R280C (955C>T) (human)
DNA:missense mutation:exon:p.R318H (mouse) 		CTD
ClinVar
RGD		 PMID:8737655 PMID:9443880 PMID:9536098 PMID:10535733 PMID:10839977 More... RGD:11568639, RGD:11568638, RGD:11070288, RGD:11568075, RGD:11568074 NCBI chr11:88,343,647...88,554,543
Ensembl chr11:88,343,651...88,554,177 		JBrowse link
EVEN-PLUS SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO ClinVar Annotator: match by term: EPIPHYSEAL AND VERTEBRAL DYSPLASIA, MICROTIA, AND FLAT NOSE, PLUS ASSOCIATED MALFORMATIONS | ClinVar Annotator: match by term: Even-plus syndrome OMIM
ClinVar		 PMID:25741868 PMID:26598328 PMID:28492532 NCBI chr18:26,810,004...26,832,958
Ensembl chr18:26,804,774...26,828,398 		JBrowse link
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox4i2 cytochrome c oxidase subunit 4i2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: COX4I2-related condition | ClinVar Annotator: match by term: Pancreatic insufficiency-anemia-hyperostosis syndrome
DNA:mutation:cds:c.412G>A (p.E138K)(human) 		OMIM
CTD
ClinVar
RGD		 PMID:19268275 PMID:25741868 PMID:28492532 PMID:19268275 RGD:11344905 NCBI chr 3:161,686,193...161,699,605
Ensembl chr 3:161,689,017...161,699,602 		JBrowse link
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnk4 potassium two pore domain channel subfamily K member 4 ISO OMIM NCBI chr 1:213,547,577...213,558,706
Ensembl chr 1:213,547,577...213,555,861 		JBrowse link
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pole DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: Facial dysmorphism, immunodeficiency, livedo, and short stature ClinVar
OMIM		 PMID:9536098 PMID:16699561 PMID:17576681 PMID:20091185 PMID:21129811 More... NCBI chr12:52,005,155...52,053,761
Ensembl chr12:52,005,155...52,053,662 		JBrowse link
Faundes-Banka Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif5a eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Faundes-Banka syndrome OMIM
ClinVar		 PMID:25741868 PMID:33547280 NCBI chr10:55,138,821...55,143,272
Ensembl chr10:55,138,823...55,143,330 		JBrowse link
Feingold syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE | ClinVar Annotator: match by term: OCULODIGITOESOPHAGODUODENAL SYNDROME | ClinVar Annotator: match by term: ODED SYNDROME 		CTD
ClinVar		 PMID:1459449 PMID:15821734 PMID:18470948 PMID:18671284 PMID:19852433 More... NCBI chr 6:41,446,683...41,452,584
Ensembl chr 6:41,446,684...41,452,508 		JBrowse link
Feingold Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: MYCN-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 6:41,446,683...41,452,584
Ensembl chr 6:41,446,684...41,452,508 		JBrowse link
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies OMIM
ClinVar		 PMID:15159495 PMID:15174025 PMID:17142831 PMID:18414213 PMID:18728015 More... NCBI chr13:87,261,964...87,286,911
Ensembl chr13:87,261,968...87,286,911 		JBrowse link
fetal encasement syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chuk component of inhibitor of nuclear factor kappa B kinase complex ISO
ISS 		ClinVar Annotator: match by term: CHUK-related condition | ClinVar Annotator: match by term: Cocoon syndrome
OMIM:613630 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:17576681 PMID:20961246 PMID:25741868 PMID:28492532 NCBI chr 1:252,908,748...252,944,273
Ensembl chr 1:252,908,749...252,944,273 		JBrowse link
Filippi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ckap2l cytoskeleton associated protein 2-like ISO ClinVar Annotator: match by term: CKAP2L-related condition | ClinVar Annotator: match by term: Filippi syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8867657 PMID:15365457 PMID:18553552 PMID:25439729 PMID:25741868 More... NCBI chr 3:136,950,390...136,977,503
Ensembl chr 3:136,950,381...136,977,565 		JBrowse link
Fine-Lubinsky Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdlbp high density lipoprotein binding protein ISO ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:25741868 NCBI chr 9:101,395,491...101,465,446
Ensembl chr 9:101,397,305...101,465,379 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:22162478 PMID:25741868 NCBI chr12:26,587,674...26,655,612
Ensembl chr12:26,587,674...26,635,809 		JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:25741868 NCBI chr 3:97,495,229...97,504,279
Ensembl chr 3:97,495,229...97,505,052 		JBrowse link
Floating-Harbor syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncdn neurochondrin ISO ClinVar Annotator: match by term: Floating-Harbor syndrome ClinVar PMID:25741868 NCBI chr 5:144,322,287...144,332,117
Ensembl chr 5:144,322,287...144,332,047 		JBrowse link
G Srcap Snf2-related CREBBP activator protein ISO ClinVar Annotator: match by term: Floating-Harbor syndrome | ClinVar Annotator: match by term: Pelletier-Leisti syndrome | ClinVar Annotator: match by term: SRCAP-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:11522779 PMID:11746027 PMID:16199547 PMID:17576681 More... NCBI chr 1:191,554,043...191,607,096
Ensembl chr 1:191,554,043...191,604,265 		JBrowse link
Fontaine Progeroid Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a24 solute carrier family 25 member 24 ISO ClinVar Annotator: match by term: Fontaine progeroid syndrome | ClinVar Annotator: match by term: SLC25A24-related condition OMIM
ClinVar		 PMID:10215548 PMID:10594888 PMID:19731360 PMID:21216154 PMID:25741868 More... NCBI chr 2:199,449,425...199,487,287
Ensembl chr 2:199,449,345...199,487,290 		JBrowse link
Forebrain Defects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cripto cripto, EGF-CFC family member ISO ClinVar Annotator: match by term: Forebrain defects ClinVar PMID:11062482 PMID:12073012 NCBI chr 8:119,803,182...119,808,714
Ensembl chr 8:119,803,220...119,808,948 		JBrowse link
Frank-Ter Haar syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sh3pxd2b SH3 and PX domains 2B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Frank-Ter Haar syndrome | ClinVar Annotator: match by term: SH3PXD2B-related condition 		OMIM
CTD
ClinVar		 PMID:7158646 PMID:8484415 PMID:15523657 PMID:20137777 PMID:22509100 More... NCBI chr10:17,422,906...17,538,977
Ensembl chr10:17,422,947...17,512,854 		JBrowse link
Freeman-Sheldon syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniocarpotarsal dysplasia | ClinVar Annotator: match by term: Freeman-Sheldon syndrome | ClinVar Annotator: match by term: WHISTLING FACE-WINDMILL VANE HAND SYNDROME 		CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:16642020 PMID:17576681 PMID:18414213 More... NCBI chr10:52,269,185...52,293,000
Ensembl chr10:52,269,185...52,293,000 		JBrowse link
frontometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Frontometaphyseal dysplasia 		CTD
ClinVar		 PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 More... NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
G Map3k7 mitogen activated protein kinase kinase kinase 7 ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutations: :multiple (human) 		CTD
RGD		 PMID:27426733 RGD:11552867 NCBI chr 5:51,149,524...51,212,012
Ensembl chr 5:51,154,352...51,212,012 		JBrowse link
frontometaphyseal dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: FRONTOMETAPHYSEAL DYSPLASIA 1 | ClinVar Annotator: match by term: Frontometaphyseal dysplasia 1
DNA:missense mutations, deletions:cds:multiple (human) 		OMIM
ClinVar
RGD		 PMID:9071288 PMID:10982489 PMID:12612583 PMID:15523633 PMID:15917206 More... RGD:11063279 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
frontometaphyseal dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map3k7 mitogen activated protein kinase kinase kinase 7 ISO ClinVar Annotator: match by term: Frontometaphyseal dysplasia 2 OMIM
ClinVar		 PMID:25741868 PMID:25899317 PMID:27426733 PMID:28492532 NCBI chr 5:51,149,524...51,212,012
Ensembl chr 5:51,154,352...51,212,012 		JBrowse link
frontonasal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx1 ALX homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:40,044,185...40,063,778
Ensembl chr 7:40,033,676...40,063,778 		JBrowse link
G Alx3 ALX homeobox 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Frontorhiny 		CTD
ClinVar		 PMID:17963218 PMID:19409524 PMID:25741868 PMID:28492532 PMID:29215096 NCBI chr 2:197,919,381...197,929,795
Ensembl chr 2:197,919,381...197,929,795 		JBrowse link
G Alx4 ALX homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:100,067,052...100,103,624
Ensembl chr 3:100,067,052...100,103,624 		JBrowse link
G Efnb1 ephrin B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15166289 NCBI chr  X:68,297,529...68,310,335
Ensembl chr  X:68,297,492...68,349,546 		JBrowse link
G Irx5 iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr19:30,812,033...30,816,885
Ensembl chr19:30,797,202...30,815,029 		JBrowse link
G Six2 SIX homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18570229 NCBI chr 6:14,727,756...14,734,219
Ensembl chr 6:14,727,859...14,731,941 		JBrowse link
frontonasal dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx3 ALX homeobox 3 ISO ClinVar Annotator: match by term: ALX3-related condition OMIM
ClinVar		 PMID:28492532 NCBI chr 2:197,919,381...197,929,795
Ensembl chr 2:197,919,381...197,929,795 		JBrowse link
frontonasal dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 ALX homeobox 4 ISO ClinVar Annotator: match by term: Frontonasal dysplasia with alopecia and genital anomaly ClinVar
OMIM		 PMID:19692347 PMID:22140057 PMID:24668755 PMID:25741868 PMID:28492532 NCBI chr 3:100,067,052...100,103,624
Ensembl chr 3:100,067,052...100,103,624 		JBrowse link
frontonasal dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx1 ALX homeobox 1 ISO
ISS 		ClinVar Annotator: match by term: ALX1-related condition | ClinVar Annotator: match by term: Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome
OMIM:613456 		OMIM
ClinVar
MouseDO		 PMID:20451171 PMID:24467814 PMID:25741868 PMID:27324866 PMID:28492532 NCBI chr 7:40,044,185...40,063,778
Ensembl chr 7:40,033,676...40,063,778 		JBrowse link
Galloway-Mowat syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:31481669 NCBI chr 6:127,647,389...127,663,276 JBrowse link
G Lage3 L antigen family, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr  X:157,289,497...157,290,920 JBrowse link
G Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:28106320 PMID:28492532 NCBI chr19:68,789,065...68,838,692
Ensembl chr19:68,789,065...68,838,692 		JBrowse link
G Osgep O-sialoglycoprotein endopeptidase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Galloway-Mowat syndrome 		CTD
ClinVar		 PMID:17897280 PMID:25741868 PMID:28272532 PMID:28492532 PMID:28805828 More... NCBI chr15:26,610,694...26,618,113
Ensembl chr15:26,610,698...26,618,113 		JBrowse link
G Tp53rka Tp53 tumor protein p53 regulating kinase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 3:174,638,962...174,645,198
Ensembl chr 3:174,638,962...174,643,347 		JBrowse link
G Tprkb Tp53rk binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 4:119,900,374...119,915,374
Ensembl chr 4:119,900,484...119,915,382 		JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chr20:9,588,532...9,604,718
Ensembl chr20:9,588,532...9,605,007 		JBrowse link
G Wdr73 WD repeat domain 73 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Galloway-Mowat syndrome 		CTD
ClinVar		 PMID:25466283 PMID:25741868 NCBI chr 1:144,269,561...144,277,707
Ensembl chr 1:144,269,562...144,277,840 		JBrowse link
G Zfp592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chr 1:144,355,227...144,411,686
Ensembl chr 1:144,361,654...144,411,684 		JBrowse link
Galloway-Mowat syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eng endoglin ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 More... NCBI chr 3:36,332,190...36,370,324
Ensembl chr 3:36,326,202...36,370,933 		JBrowse link
G Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 | ClinVar Annotator: match by term: WDR73-related condition OMIM
ClinVar		 PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 More... NCBI chr 1:144,269,561...144,277,707
Ensembl chr 1:144,269,562...144,277,840 		JBrowse link
G Zfp592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 NCBI chr 1:144,355,227...144,411,686
Ensembl chr 1:144,361,654...144,411,684 		JBrowse link
Galloway-Mowat Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Yrdc yrdC N(6)-threonylcarbamoyltransferase domain containing ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 | ClinVar Annotator: match by term: YRDC-related condition OMIM
ClinVar		 PMID:28492532 PMID:31481669 PMID:34545459 NCBI chr 5:142,394,833...142,399,798
Ensembl chr 5:142,394,938...142,399,795 		JBrowse link
Galloway-Mowat syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked | ClinVar Annotator: match by term: LAGE3-related condition OMIM
ClinVar		 PMID:12693786 PMID:25741868 PMID:28492532 PMID:28805828 NCBI chr  X:157,289,497...157,290,920 JBrowse link
Galloway-Mowat syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 | ClinVar Annotator: match by term: OSGEP-related condition OMIM
ClinVar		 PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 More... NCBI chr15:26,610,694...26,618,113
Ensembl chr15:26,610,698...26,618,113 		JBrowse link
Galloway-Mowat syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53rka Tp53 tumor protein p53 regulating kinase A ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 | ClinVar Annotator: match by term: TP53RK-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362 PMID:36873107 NCBI chr 3:174,638,962...174,645,198
Ensembl chr 3:174,638,962...174,643,347 		JBrowse link
Galloway-Mowat syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tprkb Tp53rk binding protein ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 5 | ClinVar Annotator: match by term: TPRKB-related disorder OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 NCBI chr 4:119,900,374...119,915,374
Ensembl chr 4:119,900,484...119,915,382 		JBrowse link
Galloway-Mowat Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 6 OMIM
ClinVar		 PMID:25741868 PMID:26416026 PMID:28492532 PMID:28617965 PMID:29597095 More... NCBI chr20:9,588,532...9,604,718
Ensembl chr20:9,588,532...9,605,007 		JBrowse link
Galloway-Mowat Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 7 OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:28492532 More... NCBI chr 7:55,239,610...55,285,050
Ensembl chr 7:55,239,613...55,285,234 		JBrowse link
Galloway-Mowat Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 8 | ClinVar Annotator: match by term: NUP133-related condition OMIM
ClinVar		 PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554 NCBI chr19:68,789,065...68,838,692
Ensembl chr19:68,789,065...68,838,692 		JBrowse link
Galloway-Mowat Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 9 OMIM
ClinVar		 PMID:25741868 PMID:31481669 NCBI chr 6:127,647,389...127,663,276 JBrowse link
GARG-MISHRA PROGEROID SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tomm7 translocase of outer mitochondrial membrane 7 ISO ClinVar Annotator: match by term: Garg-Mishra progeroid syndrome OMIM
ClinVar		 PMID:36282599 PMID:36299998 PMID:39615461 NCBI chr 4:12,197,503...12,204,344
Ensembl chr 4:12,197,491...12,204,343 		JBrowse link
geleophysic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl2 ADAMTS-like 2 ISO ClinVar Annotator: match by term: Geleophysic dysplasia ClinVar PMID:18677313 PMID:20301776 PMID:21415077 PMID:25741868 PMID:28917829 More... NCBI chr 3:30,795,882...30,832,635
Ensembl chr 3:30,802,700...30,832,635 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Geleophysic dysplasia ClinVar PMID:7738200 PMID:7870075 PMID:8281141 PMID:8430317 PMID:8563763 More... NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Geleophysic dysplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:212,458,362...212,475,302
Ensembl chr 1:212,459,185...212,475,302 		JBrowse link
geleophysic dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl2 ADAMTS-like 2 ISO
ISS 		ClinVar Annotator: match by term: ADAMTSL2-related condition | ClinVar Annotator: match by term: Geleophysic dysplasia 1
OMIM:231050 		OMIM
ClinVar
MouseDO		 PMID:18677313 PMID:20301776 PMID:21415077 PMID:24014090 PMID:25741868 More... NCBI chr 3:30,795,882...30,832,635
Ensembl chr 3:30,802,700...30,832,635 		JBrowse link
geleophysic dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Geleophysic dysplasia 2 OMIM
ClinVar		 PMID:1852206 PMID:2005308 PMID:3212331 PMID:3495735 PMID:4750422 More... NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		JBrowse link
geleophysic dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Geleophysic dysplasia 3 OMIM
ClinVar		 PMID:25741868 PMID:27068007 PMID:28492532 PMID:30887145 PMID:33082559 NCBI chr 1:212,458,362...212,475,302
Ensembl chr 1:212,459,185...212,475,302 		JBrowse link
Genitopatellar Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Genitopatellar syndrome | ClinVar Annotator: match by term: KAT6B-Related Spectrum Disorders | ClinVar Annotator: match by term: KAT6B-related disorder
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:multiple (human) 		OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:12210329 PMID:12210330 PMID:16199547 PMID:16761293 More... RGD:9588485 NCBI chr15:2,688,535...2,861,443
Ensembl chr15:2,688,811...2,844,343 		JBrowse link
G Lgi1 leucine-rich, glioma inactivated 1 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:25741868 NCBI chr 1:245,455,691...245,497,036
Ensembl chr 1:245,455,599...245,499,095 		JBrowse link
Gillessen-Kaesbach-Nishimura Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: ALG9-associated autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: Gillessen-Kaesbach-Nishimura syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:15945070 PMID:16199547 PMID:25741868 PMID:25966638 PMID:26467025 More... NCBI chr 8:60,013,429...60,085,159
Ensembl chr 8:60,009,618...60,085,054 		JBrowse link
gnathodiaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano5 anoctamin 5 ISO
ISS 		ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia | ClinVar Annotator: match by term: Osteogenesis imperfecta with unusual skeletal lesions
OMIM:166260
DNA:missense mutations:exon:p.C356R, p.C356G (human)
DNA:missense mutation:exon:p.T513I (c.1538C>T) (human) 		OMIM
ClinVar
MouseDO
RGD		 PMID:3530687 PMID:5816667 PMID:9397016 PMID:9536098 PMID:9673985 More... RGD:11570566, RGD:11570556 NCBI chr 1:110,222,411...110,323,505
Ensembl chr 1:110,222,446...110,323,501 		JBrowse link
G Hk1 hexokinase 1 ISO ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA WITH UNUSUAL SKELETAL LESIONS ClinVar PMID:25741868 NCBI chr20:30,773,222...30,874,814
Ensembl chr20:30,773,220...30,874,814 		JBrowse link
Goldberg-Shprintzen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kifbp kinesin family binding protein ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome | ClinVar Annotator: match by term: KIFBP-related disorder | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
OMIM:609460 		CTD
ClinVar
MouseDO
OMIM		 PMID:15883926 PMID:18414213 PMID:23427148 PMID:24072599 PMID:24901346 More... NCBI chr20:31,055,625...31,075,232
Ensembl chr20:31,055,626...31,075,201 		JBrowse link
G Nek9 NIMA-related kinase 9 ISO ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome ClinVar PMID:25741868 NCBI chr 6:110,675,107...110,715,586
Ensembl chr 6:110,675,107...110,715,586 		JBrowse link
G Ski Ski proto-oncogene ISO ClinVar Annotator: match by term: Goldberg-Shprintzen megacolon syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome 		ClinVar PMID:7977351 PMID:8449506 PMID:8981946 PMID:9536098 PMID:15979919 More... NCBI chr 5:170,995,851...171,064,957
Ensembl chr 5:170,995,851...171,064,957 		JBrowse link
Goldenhar syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chaf1a chromatin assembly factor 1 subunit A ISO ClinVar Annotator: match by term: Craniofacial microsomia ClinVar NCBI chr 9:961,225...987,825
Ensembl chr 9:961,084...987,868 		JBrowse link
G Foxi3 forkhead box I3 ISS
ISO 		OMIM:164210
ClinVar Annotator: match by term: Craniofacial microsomia | ClinVar Annotator: match by term: Craniofacial microsomia 1 		MouseDO
ClinVar		 PMID:28492532 PMID:36260083 PMID:37041148 NCBI chr 4:104,491,834...104,496,008
Ensembl chr 4:104,491,759...104,496,008 		JBrowse link
G Frk fyn-related Src family tyrosine kinase ISO ClinVar Annotator: match by term: Craniofacial microsomia 1 ClinVar NCBI chr20:39,820,441...39,926,065
Ensembl chr20:39,820,295...39,926,362 		JBrowse link
G Pax1 paired box 1 ISO ClinVar Annotator: match by term: Craniofacial microsomia ClinVar NCBI chr 3:155,244,961...155,254,836
Ensembl chr 3:155,245,529...155,254,836 		JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: Craniofacial microsomia 1
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:7811205 PMID:25741868 PMID:34344887 NCBI chr 1:211,999,777...212,040,686
Ensembl chr 1:211,999,778...212,020,113 		JBrowse link
G Zic3 Zic family member 3 ISS OMIM:164210 MouseDO NCBI chr  X:141,159,623...141,165,587
Ensembl chr  X:141,149,594...141,170,464 		JBrowse link
G Zyg11b zyg-11 family member B, cell cycle regulator ISO ClinVar Annotator: match by term: Craniofacial microsomia 1 ClinVar PMID:25741868 PMID:32738032 NCBI chr 5:128,214,293...128,271,446
Ensembl chr 5:128,214,293...128,271,446 		JBrowse link
Gracile Bone Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam111a FAM111 trypsin like peptidase A ISO ClinVar Annotator: match by term: FAM111A-related condition | ClinVar Annotator: match by term: Osteocraniostenosis
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:23684011 PMID:23996431 PMID:24635597 PMID:24970356 PMID:25741868 More... NCBI chr 1:219,065,542...219,081,213
Ensembl chr 1:219,065,601...219,081,211 		JBrowse link
Greig cephalopolysyndactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli3 GLI family zinc finger 3 ISO
ISS 		ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome | ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome, severe | ClinVar Annotator: match by term: Polysyndactyly with peculiar skull shape
OMIM:175700
DNA:mutations:exon, intron:multiple
DNA:nonsense mutations, missense mutations, splice-site mutations:exon, intron:multiple
DNA:mutations: :multiple
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1879832 PMID:6641002 PMID:9302279 PMID:9536098 PMID:10441342 More... RGD:12738222, RGD:12738208, RGD:12738205, RGD:12738141 NCBI chr17:54,134,064...54,405,198
Ensembl chr17:54,134,064...54,405,198 		JBrowse link
Hamamy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irx5 iroquois homeobox 5 ISO ClinVar Annotator: match by term: Hamamy syndrome | ClinVar Annotator: match by term: IRX5-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:17230486 PMID:22581230 PMID:25741868 PMID:28492532 PMID:34899143 NCBI chr19:30,812,033...30,816,885
Ensembl chr19:30,797,202...30,815,029 		JBrowse link
Hardikar Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Cholestasis-pigmentary retinopathy-cleft palate syndrome OMIM
ClinVar		 PMID:9286458 PMID:20301719 PMID:24728327 PMID:25741868 PMID:28492532 More... NCBI chr  X:70,444,615...70,467,780
Ensembl chr  X:70,444,705...70,467,708 		JBrowse link
Hemimegalencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxp1 forkhead box P1 ISO protein:altered expression:neocortex (human) RGD PMID:22759905 RGD:11560525 NCBI chr 4:133,117,346...133,808,647
Ensembl chr 4:133,122,055...133,500,272 		JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Hemimegalencephaly ClinVar PMID:25741868 NCBI chr 3:28,501,836...28,528,754
Ensembl chr 3:28,501,836...28,528,754 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Unilateral Megalencephaly ClinVar PMID:24631838 PMID:25799227 PMID:28864461 PMID:29281825 NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:164,167,928...164,277,435 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Unilateral Megalencephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:117,143,468...117,177,411 		JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Hemimegalencephaly ClinVar PMID:25741868 NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:240,043,707...240,110,330 		JBrowse link
G Rheb Ras homolog, mTORC1 binding ISO ClinVar Annotator: match by term: Hemimegalencephaly ClinVar PMID:30414531 NCBI chr 4:11,012,173...11,053,860
Ensembl chr 4:11,012,643...11,053,931 		JBrowse link
G Rps6 ribosomal protein S6 ISO ClinVar Annotator: match by term: Hemimegalencephaly ClinVar NCBI chr 5:106,417,680...106,420,540
Ensembl chr 5:106,417,680...106,420,566 		JBrowse link
Hengel-Maroofian-Schols syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcas3 BCAS3, microtubule associated cell migration factor ISO ClinVar Annotator: match by term: Hengel-Maroofian-Schols syndrome OMIM
ClinVar		 PMID:25741868 PMID:34022130 PMID:39825153 NCBI chr10:70,711,084...71,170,492
Ensembl chr10:70,711,525...71,170,803 		JBrowse link
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccbe1 collagen and calcium binding EGF domains 1 ISO ClinVar Annotator: match by term: CCBE1-related condition | ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19911200 PMID:19935664 More... NCBI chr18:61,849,821...62,093,876
Ensembl chr18:61,853,149...62,094,075 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1 ClinVar PMID:25741868 NCBI chr 2:123,855,289...123,984,716
Ensembl chr 2:123,855,289...123,984,716 		JBrowse link
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 2 OMIM
ClinVar		 PMID:2624276 PMID:22473091 PMID:24033266 PMID:24056717 PMID:24913602 More... NCBI chr 2:123,855,289...123,984,716
Ensembl chr 2:123,855,289...123,984,716 		JBrowse link
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts3 ADAM metallopeptidase with thrombospondin type 1, motif 3 ISO ClinVar Annotator: match by term: ADAMTS3-related condition | ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 3 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28985353 PMID:30450763 NCBI chr14:18,515,249...18,721,887
Ensembl chr14:18,515,249...18,721,887 		JBrowse link
Hennekam syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccbe1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome | ClinVar Annotator: match by term: LYMPHATIC DYSPLASIA, GENERALIZED 		CTD
ClinVar		 PMID:19911200 PMID:19935664 PMID:25741868 PMID:25814692 PMID:28492532 More... NCBI chr18:61,849,821...62,093,876
Ensembl chr18:61,853,149...62,094,075 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:123,855,289...123,984,716
Ensembl chr 2:123,855,289...123,984,716 		JBrowse link
Heyn-Sproul-Jackson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Heyn-Sproul-Jackson syndrome OMIM
ClinVar		 PMID:11836534 PMID:15456878 PMID:16357870 PMID:23849776 PMID:25741868 More... NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:32,512,070...32,614,970 		JBrowse link
holoprosencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Boc BOC cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28677295 NCBI chr11:69,628,703...69,704,009
Ensembl chr11:69,628,660...69,704,004 		JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Holoprosencephaly spectrum disorder ClinVar PMID:20301702 PMID:25741868 PMID:26728615 PMID:28492532 NCBI chr 8:42,032,921...42,119,451
Ensembl chr 8:42,033,042...42,119,345 		JBrowse link
G Cnot1 CCR4-NOT transcription complex, subunit 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:25741868 PMID:28525974 PMID:31006510 PMID:31006513 PMID:32553196 NCBI chr19:9,261,290...9,352,636
Ensembl chr19:9,261,294...9,352,636 		JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO protein:increased localization: prechordal mesoderm, nucleus RGD PMID:18338389 RGD:12801437 NCBI chr 9:73,397,333...73,466,339
Ensembl chr 9:73,397,306...73,466,339 		JBrowse link
G Cripto cripto, EGF-CFC family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:12073012 NCBI chr 8:119,803,182...119,808,714
Ensembl chr 8:119,803,220...119,808,948 		JBrowse link
G Disp1 dispatched RND transporter family member 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Lobar holoprosencephaly | ClinVar Annotator: match by term: Microform holoprosencephaly ClinVar PMID:25741868 PMID:28492532 PMID:28640243 NCBI chr13:97,252,574...97,398,329
Ensembl chr13:97,252,574...97,398,460 		JBrowse link
G Dll1 delta like canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Alobar holoprosencephaly | ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 1:64,985,161...64,993,274
Ensembl chr 1:64,985,161...64,993,276 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Semilobar holoprosencephaly ClinVar PMID:20463092 PMID:22399515 PMID:25131394 PMID:25741868 PMID:26467025 More... NCBI chr 1:254,533,504...254,539,605
Ensembl chr 1:254,533,504...254,539,605 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Lobar holoprosencephaly | ClinVar Annotator: match by term: Microform holoprosencephaly | ClinVar Annotator: match by term: Semilobar holoprosencephaly ClinVar PMID:12627230 PMID:16199547 PMID:17154279 PMID:17530415 PMID:18034870 More... NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855 		JBrowse link
G Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: FOXH1-related condition | ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:18538293 PMID:25741868 PMID:28492532 NCBI chr 7:110,268,608...110,272,105
Ensembl chr 7:110,268,612...110,270,692 		JBrowse link
G Gas1 growth arrest-specific 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17525797 NCBI chr17:4,487,716...4,490,701
Ensembl chr17:4,484,283...4,497,657 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Microform holoprosencephaly 		CTD
ClinVar		 PMID:25741868 PMID:27585885 NCBI chr13:32,499,678...32,716,418
Ensembl chr13:32,499,678...32,716,418 		JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:25741868 PMID:28492532 PMID:28735299 PMID:29534211 PMID:31680349 NCBI chr 3:187,647,904...187,695,974
Ensembl chr 3:187,647,904...187,696,173 		JBrowse link
G Matn4 matrilin 4 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:25558065 NCBI chr 3:173,539,966...173,554,984
Ensembl chr 3:173,539,966...173,554,984 		JBrowse link
G Nodal nodal growth differentiation factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Holoprosencephaly sequence 		CTD
ClinVar		 PMID:19064609 PMID:19553149 PMID:22352765 PMID:23264560 PMID:24033266 More... NCBI chr20:29,911,258...29,919,659
Ensembl chr20:29,911,258...29,919,659 		JBrowse link
G Nosip nitric oxide synthase interacting protein ISS MouseDO NCBI chr 1:104,679,783...104,695,570
Ensembl chr 1:104,679,882...104,695,119 		JBrowse link
G Pgap1 post-GPI attachment to proteins inositol deacylase 1 ISS MouseDO NCBI chr 9:63,470,023...63,538,772
Ensembl chr 9:63,470,024...63,538,772 		JBrowse link
G Pign phosphatidylinositol glycan anchor biosynthesis, class N ISS MouseDO NCBI chr13:22,173,670...22,321,344
Ensembl chr13:22,176,576...22,321,379 		JBrowse link
G Ptch1 patched 1 ISO DNA:missense mutations:exon:multiple
ClinVar Annotator: match by term: Holoprosencephaly | ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Microform holoprosencephaly 		ClinVar
RGD		 PMID:8302318 PMID:11941477 PMID:17001668 PMID:21188540 PMID:22703879 More... RGD:12798567 NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,548,449...1,613,461 		JBrowse link
G Shh sonic hedgehog signaling molecule treatment ISO DNA:mutations:cds:multiple (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Holoprosencephaly sequence
DNA:missense mutation:CDS:p.V88D (263A>T) (human)
DNA:missense mutations, non-sense mutation:exon:multiple 		CTD
ClinVar
RGD		 PMID:15107988 PMID:17525797 PMID:23264560 PMID:27585885 PMID:29584859 More... RGD:9743971, RGD:12801437, RGD:12801425, RGD:12798570 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:7,687,846...7,697,901 		JBrowse link
G Six3 SIX homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:10369266 PMID:10369266 PMID:15523651 RGD:1599336, RGD:1599335 NCBI chr 6:14,791,937...14,796,365
Ensembl chr 6:14,789,354...14,804,175 		JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Microform holoprosencephaly ClinVar PMID:24728327 PMID:27363716 PMID:28492532 NCBI chr 1:255,199,108...255,296,983
Ensembl chr 1:255,199,164...255,296,981 		JBrowse link
G Tgif1 TGFB-induced factor homeobox 1 ISO holoprosencephaly-4, OMIM:142946
ClinVar Annotator: match by term: Holoprosencephaly sequence
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:16705179 PMID:25741868 PMID:28492532 PMID:10835638 RGD:1599407 NCBI chr 9:118,194,735...118,204,354
Ensembl chr 9:118,194,444...118,204,442 		JBrowse link
G Twsg1 twisted gastrulation BMP signaling modulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15013800 NCBI chr 9:112,979,972...113,014,315
Ensembl chr 9:112,979,972...113,014,315 		JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence
DNA:insertion,deletion mutations:cds:
DNA:deletion, duplication, frameshift, transition mutations:cds,intron: 		ClinVar
RGD		 PMID:25741868 PMID:18617531 PMID:9771712 PMID:22847929 RGD:11561948, RGD:11561954, RGD:11561949 NCBI chr15:105,982,711...105,988,167
Ensembl chr15:105,983,342...105,988,167 		JBrowse link
G Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 ISO ClinVar Annotator: match by term: Holoprosencephaly ClinVar PMID:11003938 PMID:25679214 PMID:25741868 PMID:31680349 PMID:38158857 NCBI chr  X:34,179,279...34,201,989
Ensembl chr  X:34,179,311...34,201,986 		JBrowse link
holoprosencephaly 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:42,032,921...42,119,451
Ensembl chr 8:42,033,042...42,119,345 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:18596921 PMID:21045958 PMID:28492532 NCBI chr 1:254,533,504...254,539,605
Ensembl chr 1:254,533,504...254,539,605 		JBrowse link
G Gas1 growth arrest-specific 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:20583177 PMID:21842183 NCBI chr17:4,487,716...4,490,701
Ensembl chr17:4,484,283...4,497,657 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr13:32,499,678...32,716,418
Ensembl chr13:32,499,678...32,716,418 		JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:22859937 NCBI chr15:105,982,711...105,988,167
Ensembl chr15:105,983,342...105,988,167 		JBrowse link
Holoprosencephaly 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Disp1 dispatched RND transporter family member 1 ISO ClinVar Annotator: match by term: DISP1-related condition | ClinVar Annotator: match by term: HOLOPROSENCEPHALY 10 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:38529886 NCBI chr13:97,252,574...97,398,329
Ensembl chr13:97,252,574...97,398,460 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES ClinVar PMID:25741868 PMID:28492532 NCBI chr13:32,499,678...32,716,418
Ensembl chr13:32,499,678...32,716,418 		JBrowse link
holoprosencephaly 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdon cell adhesion associated, oncogene regulated ISO
ISS 		OMIM:614226
ClinVar Annotator: match by term: Holoprosencephaly 11 		OMIM
MouseDO
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20301702 PMID:21802063 More... NCBI chr 8:42,032,921...42,119,451
Ensembl chr 8:42,033,042...42,119,345 		JBrowse link
holoprosencephaly 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnot1 CCR4-NOT transcription complex, subunit 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 12 with or without pancreatic agenesis OMIM
ClinVar		 PMID:25299611 PMID:25741868 PMID:28492532 PMID:28525974 PMID:31006510 More... NCBI chr19:9,261,290...9,352,636
Ensembl chr19:9,261,294...9,352,636 		JBrowse link
Holoprosencephaly 13, X-linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sh2d1a SH2 domain containing 1A ISO ClinVar Annotator: match by term: Holoprosencephaly 13, X-linked ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:126,239,191...126,267,425
Ensembl chr  X:126,239,200...126,267,424 		JBrowse link
G Stag2 STAG2 cohesin complex component ISO ClinVar Annotator: match by term: Holoprosencephaly 13, X-linked OMIM
ClinVar		 PMID:25741868 PMID:28296084 PMID:28492532 PMID:31334757 NCBI chr  X:125,839,660...125,971,209
Ensembl chr  X:125,840,401...125,971,209 		JBrowse link
Holoprosencephaly 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plch1 phospholipase C, eta 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 14 OMIM
ClinVar		 PMID:25741868 PMID:33820834 NCBI chr 2:150,298,547...150,514,120
Ensembl chr 2:150,299,075...150,464,019 		JBrowse link
holoprosencephaly 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 2 ClinVar PMID:25741868 PMID:28492532 PMID:34008892 NCBI chr17:9,317,085...9,431,528
Ensembl chr17:9,317,085...9,452,250 		JBrowse link
G Six3 SIX homeobox 3 ISO
ISS 		ClinVar Annotator: match by term: Holoprosencephaly 2 | ClinVar Annotator: match by term: SIX3-related condition
OMIM:157170
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:10369266 PMID:10923031 PMID:11039582 PMID:14711609 PMID:15221788 More... NCBI chr 6:14,791,937...14,796,365
Ensembl chr 6:14,789,354...14,804,175 		JBrowse link
holoprosencephaly 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shh sonic hedgehog signaling molecule ISO
ISS 		ClinVar Annotator: match by term: Holoprosencephaly 3
OMIM:142945
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:8896572 PMID:9302262 PMID:9600232 PMID:10479723 PMID:10556296 More... NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:7,687,846...7,697,901 		JBrowse link
holoprosencephaly 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgif1 TGFB-induced factor homeobox 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 4 | ClinVar Annotator: match by term: TGIF1-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:10835638 PMID:11810641 PMID:12522553 PMID:16199538 PMID:16962354 More... NCBI chr 9:118,194,735...118,204,354
Ensembl chr 9:118,194,444...118,204,442 		JBrowse link
holoprosencephaly 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zic2 Zic family member 2 ISO
ISS 		ClinVar Annotator: match by term: Holoprosencephaly 5 | ClinVar Annotator: match by term: ZIC2-related condition
OMIM:609637
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:9771712 PMID:11285244 PMID:15221788 PMID:15590697 More... NCBI chr15:105,982,711...105,988,167
Ensembl chr15:105,983,342...105,988,167 		JBrowse link
holoprosencephaly 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Disp1 dispatched RND transporter family member 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 7 ClinVar PMID:25741868 NCBI chr13:97,252,574...97,398,329
Ensembl chr13:97,252,574...97,398,460 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 7
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1347096 PMID:8302318 PMID:9463336 PMID:11941477 PMID:12204003 More... NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,548,449...1,613,461 		JBrowse link
holoprosencephaly 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Cerebellar cyst | ClinVar Annotator: match by term: GLI2-related condition | ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES | ClinVar Annotator: match by term: Holoprosencephaly 9
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1756909 PMID:3320637 PMID:9536098 PMID:10725236 PMID:14581620 More... NCBI chr13:32,499,678...32,716,418
Ensembl chr13:32,499,678...32,716,418 		JBrowse link
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Hartsfield syndrome | ClinVar Annotator: match by term: Hartsfield-Bixler-Demyer syndrome OMIM
ClinVar		 PMID:1456217 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 More... NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855 		JBrowse link
Hoyeraal-Hreidarsson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:35007328 NCBI chr 2:193,998,350...194,006,873
Ensembl chr 2:193,998,354...194,006,864 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:7607282 PMID:10583221 PMID:12437656 PMID:16332973 PMID:19734544 More... NCBI chr  X:157,751,651...157,757,796
Ensembl chr  Y:380,743...385,405
Ensembl chr  X:380,743...385,405 		JBrowse link
G Pot1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Cerebellar hypoplasia with pancytopenia ClinVar PMID:25741868 PMID:28492532 PMID:29625052 PMID:32155570 PMID:36113475 NCBI chr 4:55,170,821...55,228,588
Ensembl chr 4:55,170,821...55,228,543 		JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO DNA:nonsense mutation, missense mutation:cds:c.C2920T:p.R974X, c.G1476T:p.M492I (human) RGD PMID:23959892 RGD:152977765 NCBI chr 3:188,778,329...188,842,877
Ensembl chr 3:188,807,951...188,843,709 		JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebellar hypoplasia with pancytopenia 		CTD
ClinVar		 PMID:17785587 PMID:20502709 PMID:25741868 PMID:28492532 PMID:34890115 More... NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:31,466,056...31,488,111 		JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr15:33,140,611...33,146,930
Ensembl chr15:33,140,714...33,146,930 		JBrowse link
hyperphosphatasia with impaired intellectual development syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigb phosphatidylinositol glycan anchor biosynthesis, class B ISO ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 ClinVar PMID:25326635 PMID:25741868 PMID:31256876 NCBI chr 8:82,622,484...82,656,323
Ensembl chr 8:82,632,445...82,656,323 		JBrowse link
G Pigg phosphatidylinositol glycan anchor biosynthesis, class G ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1 ClinVar PMID:25741868 PMID:26996948 PMID:28492532 NCBI chr14:1,549,891...1,578,174
Ensembl chr14:1,549,891...1,578,167 		JBrowse link
G Pigl phosphatidylinositol glycan anchor biosynthesis, class L ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1 ClinVar NCBI chr10:47,641,478...47,699,200
Ensembl chr10:47,641,098...47,699,453 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 ClinVar PMID:25741868 NCBI chr 5:62,040,979...62,052,067
Ensembl chr 5:62,037,308...62,052,075 		JBrowse link
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V ISO DNA:missense mutations:CDS:multiple (human)
ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 | ClinVar Annotator: match by term: PIGV-related condition 		OMIM
ClinVar
RGD		 PMID:1724113 PMID:17351347 PMID:20578257 PMID:20802478 PMID:21739589 More... RGD:243048420 NCBI chr 5:151,173,486...151,185,748
Ensembl chr 5:151,173,044...151,185,376 		JBrowse link
Hypertelorism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amotl1 angiomotin-like 1 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 PMID:28492532 PMID:33026150 PMID:36751037 NCBI chr 8:19,630,139...19,749,027
Ensembl chr 8:19,634,510...19,748,869 		JBrowse link
G Cemip2 cell migration inducing hyaluronidase 2 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 NCBI chr 1:228,756,826...228,834,313
Ensembl chr 1:228,757,466...228,832,906 		JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 NCBI chr 2:204,509,136...204,702,264
Ensembl chr 2:204,509,136...204,702,264 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:8364588 PMID:25741868 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:80,380,453...80,397,460 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:31,606,475...31,755,097
Ensembl chr 3:31,606,486...31,753,020 		JBrowse link
G Ctr9 CTR9 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 NCBI chr 1:174,571,952...174,601,974
Ensembl chr 1:174,571,928...174,602,130 		JBrowse link
G Efnb1 ephrin B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15166289 NCBI chr  X:68,297,529...68,310,335
Ensembl chr  X:68,297,492...68,349,546 		JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:11175284 PMID:16199547 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr12:27,604,983...27,648,413
Ensembl chr12:27,604,680...27,648,413 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:7874170 PMID:11781872 PMID:12884424 PMID:20643727 PMID:23348274 More... NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
G Foxc1 forkhead box C1 ISO associated with Axenfeld-Rieger Syndrome;DNA:deletion:cds:437-453del17(human) RGD PMID:17653043 RGD:12904051 NCBI chr17:32,840,119...32,844,100
Ensembl chr17:32,805,858...32,844,347 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 NCBI chr13:32,499,678...32,716,418
Ensembl chr13:32,499,678...32,716,418 		JBrowse link
G Mid1 midline 1 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 NCBI chr  X:27,678,248...28,053,049
Ensembl chr  X:27,681,867...27,906,105 		JBrowse link
G Mllt1 MLLT1, super elongation complex subunit ISO ClinVar Annotator: match by term: Hypertelorism ClinVar NCBI chr 9:1,818,204...1,863,091
Ensembl chr 9:1,818,204...1,863,089 		JBrowse link
G Myh10 myosin heavy chain 10 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar NCBI chr10:53,891,955...54,024,032
Ensembl chr10:53,893,166...54,024,036 		JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:12464997 PMID:12807965 PMID:15942875 PMID:17565729 PMID:18414213 More... NCBI chr17:9,317,085...9,431,528
Ensembl chr17:9,317,085...9,452,250 		JBrowse link
G Pigl phosphatidylinositol glycan anchor biosynthesis, class L ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:3041916 PMID:7666399 PMID:8893234 PMID:18414213 PMID:22444671 More... NCBI chr10:47,641,478...47,699,200
Ensembl chr10:47,641,098...47,699,453 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:21270786 PMID:25741868 PMID:27631024 PMID:27981572 PMID:28492532 More... NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:117,143,468...117,177,411 		JBrowse link
G Pogz pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 NCBI chr 2:185,069,492...185,129,741
Ensembl chr 2:185,084,826...185,129,739 		JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... NCBI chr 4:152,998,344...153,040,556
Ensembl chr 4:152,998,812...153,040,556 		JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:24033266 PMID:25741868 PMID:26518681 PMID:27101134 PMID:28492532 More... NCBI chr 2:176,478,616...176,493,269
Ensembl chr 2:176,478,596...176,494,684 		JBrowse link
G Rps6ka3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 NCBI chr  X:39,325,926...39,432,017
Ensembl chr  X:39,325,926...39,433,678 		JBrowse link
G Slc12a6 solute carrier family 12, member 6 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:12368912 PMID:16606917 PMID:25741868 PMID:28492532 NCBI chr 3:119,525,521...119,624,655
Ensembl chr 3:119,526,295...119,624,653 		JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 NCBI chr17:24,230,064...24,253,219
Ensembl chr17:24,229,910...24,253,219 		JBrowse link
G Tfap2b transcription factor AP-2 beta ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:2010091 PMID:10802654 PMID:11505339 PMID:25741868 NCBI chr 9:29,282,703...29,312,568
Ensembl chr 9:29,282,825...29,312,568 		JBrowse link
G Upf1 UPF1, RNA helicase and ATPase ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 NCBI chr16:19,110,531...19,131,327
Ensembl chr16:19,110,538...19,131,327 		JBrowse link
Hypertelorism and Tetralogy of Fallot term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Hypertelorism and tetralogy of fallot ClinVar PMID:25741868 NCBI chr17:32,840,119...32,844,100
Ensembl chr17:32,805,858...32,844,347 		JBrowse link
hypotonia-cystinuria syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camkmt calmodulin-lysine N-methyltransferase ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:606407 		CTD
MouseDO		 PMID:26247364 NCBI chr 6:14,951,838...15,332,966
Ensembl chr 6:14,951,840...15,333,106 		JBrowse link
G Ppm1b protein phosphatase, Mg2+/Mn2+ dependent, 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:15,399,559...15,460,301
Ensembl chr 6:15,399,562...15,460,756 		JBrowse link
G Prepl prolyl endopeptidase-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:15,333,107...15,362,825
Ensembl chr 6:15,333,077...15,363,231 		JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:15,361,037...15,396,695
Ensembl chr 6:15,361,046...15,394,775 		JBrowse link
ICHAD syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikzf2 IKAROS family zinc finger 2 ISO ClinVar Annotator: match by term: ICHAD SYNDROME ClinVar
OMIM		 PMID:37316189 NCBI chr 9:78,495,670...78,640,896
Ensembl chr 9:78,492,275...78,640,463 		JBrowse link
immunodeficiency-centromeric instability-facial anomalies syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt3b DNA methyltransferase 3 beta ISO ClinVar Annotator: match by term: Centromeric instability, immunodeficiency syndrome ClinVar PMID:9536098 PMID:17576681 PMID:24577265 PMID:25741868 PMID:28492532 More... NCBI chr 3:162,590,777...162,629,313
Ensembl chr 3:162,604,037...162,629,313 		JBrowse link
immunodeficiency-centromeric instability-facial anomalies syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt3b DNA methyltransferase 3 beta ISO
ISS 		ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency | ClinVar Annotator: match by term: Immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16 | ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 1
OMIM:242860
DNA:missense mutations, nonsense mutation: :multiple 		OMIM
ClinVar
MouseDO
RGD		 PMID:3361388 PMID:9536098 PMID:10555141 PMID:10588719 PMID:10647011 More... RGD:1601084 NCBI chr 3:162,590,777...162,629,313
Ensembl chr 3:162,604,037...162,629,313 		JBrowse link
immunodeficiency-centromeric instability-facial anomalies syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zbtb24 zinc finger and BTB domain containing 24 ISO ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | ClinVar Annotator: match by term: ZBTB24-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21596365 PMID:21906047 More... NCBI chr20:46,525,982...46,546,363
Ensembl chr20:46,525,637...46,546,363 		JBrowse link
immunodeficiency-centromeric instability-facial anomalies syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdca7 cell division cycle associated 7 ISO ClinVar Annotator: match by term: CDCA7-related condition | ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 3 OMIM
ClinVar		 PMID:1999836 PMID:15952214 PMID:21596365 PMID:25741868 PMID:26216346 More... NCBI chr 3:77,730,315...77,740,950
Ensembl chr 3:77,729,970...77,740,947 		JBrowse link
immunodeficiency-centromeric instability-facial anomalies syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hells helicase, lymphoid specific ISO ClinVar Annotator: match by term: HELLS-related condition | ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 4 OMIM
ClinVar		 PMID:21596365 PMID:25741868 PMID:26216346 PMID:28492532 NCBI chr 1:246,113,580...246,159,230
Ensembl chr 1:246,114,096...246,159,228 		JBrowse link
Impaired intellectual development, anterior maxillary protrusion, and strabismus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sobp sine oculis binding protein homolog ISO ClinVar Annotator: match by term: Intellectual disability, anterior maxillary protrusion, and strabismus | ClinVar Annotator: match by term: SOBP-related condition OMIM
ClinVar		 PMID:17618476 PMID:18414213 PMID:21035105 PMID:25741868 PMID:28492532 NCBI chr20:48,064,445...48,243,607
Ensembl chr20:48,064,445...48,243,607 		JBrowse link
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eefsec eukaryotic elongation factor, selenocysteine-tRNA-specific ISO ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ClinVar PMID:25741868 PMID:39753114 NCBI chr 4:122,276,907...122,473,049
Ensembl chr 4:122,263,535...122,473,049 		JBrowse link
G Med17 mediator complex subunit 17 ISO ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | ClinVar Annotator: match by term: MED17-related condition OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:20950787 PMID:25741868 PMID:26004231 More... NCBI chr 8:20,382,995...20,401,993
Ensembl chr 8:20,382,995...20,401,993 		JBrowse link
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pus7 pseudouridine synthase 7 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | ClinVar Annotator: match by term: PUS7-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30526862 PMID:30778726 PMID:35144859 NCBI chr 4:12,252,553...12,293,547
Ensembl chr 4:12,252,545...12,293,539 		JBrowse link
Intellectual Developmental Disorder with Autism and Macrocephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with autism and macrocephaly OMIM
ClinVar		 PMID:18414213 PMID:22495309 PMID:23160955 PMID:24998929 PMID:25326635 More... NCBI chr15:27,379,285...27,438,959
Ensembl chr15:27,379,285...27,417,851 		JBrowse link
Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phf21a PHD finger protein 21A ISO ClinVar Annotator: match by term: Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures | ClinVar Annotator: match by term: PHF21A-related condition OMIM
ClinVar		 PMID:2857172 PMID:22770980 PMID:25741868 PMID:28492532 PMID:30487643 More... NCBI chr 3:98,600,933...98,791,132
Ensembl chr 3:98,613,844...98,787,350 		JBrowse link
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brpf1 bromodomain and PHD finger containing, 1 ISO ClinVar Annotator: match by term: BRPF1-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis OMIM
ClinVar		 PMID:25741868 PMID:27939639 PMID:27939640 PMID:28492532 PMID:32010779 More... NCBI chr 4:148,011,977...148,028,431
Ensembl chr 4:148,011,931...148,028,424 		JBrowse link
G Rpl10l ribosomal protein L10 like ISO ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis ClinVar NCBI chr 6:90,280,962...90,281,982
Ensembl chr 6:90,081,656...90,287,434 		JBrowse link
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otud6b OTU deubiquitinase 6B ISO ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | ClinVar Annotator: match by term: OTUD6B-related condition OMIM
ClinVar		 PMID:25741868 PMID:28343629 PMID:28492532 PMID:31147255 PMID:32181568 More... NCBI chr 5:32,979,190...33,011,781
Ensembl chr 5:32,979,147...33,011,568 		JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnk cyclin K ISO ClinVar Annotator: match by term: CCNK-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder with hypertelorism and distinctive facies OMIM
ClinVar		 PMID:25741868 PMID:30122539 NCBI chr 6:132,854,428...132,877,604
Ensembl chr 6:132,854,700...132,877,602 		JBrowse link
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with macrocephaly, seizures, and speech delay ClinVar PMID:25741868 NCBI chr 3:32,889,856...32,949,032
Ensembl chr 3:32,890,575...32,943,821 		JBrowse link
G Pak1 p21 (RAC1) activated kinase 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with macrocephaly, seizures, and speech delay | ClinVar Annotator: match by term: PAK1-related condition | ClinVar Annotator: match by term: PAK1-related neurodevelopmental disorders OMIM
ClinVar		 PMID:10975528 PMID:25741868 PMID:28492532 PMID:30290153 PMID:31504246 More... NCBI chr 1:161,522,399...161,637,623
Ensembl chr 1:161,491,847...161,637,612 		JBrowse link
isolated cleft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap29 Rho GTPase activating protein 29 ISO ClinVar Annotator: match by term: Isolated cleft palate ClinVar PMID:25741868 NCBI chr 2:212,744,626...212,816,710
Ensembl chr 2:212,755,803...212,986,729 		JBrowse link
G Grhl3 grainyhead-like transcription factor 3 ISO ClinVar Annotator: match by term: Isolated cleft palate ClinVar PMID:25741868 PMID:27018475 PMID:28492532 NCBI chr 5:153,057,760...153,089,890
Ensembl chr 5:153,057,760...153,089,890 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO ClinVar Annotator: match by term: Isolated cleft palate ClinVar PMID:22473090 PMID:24728327 PMID:25741868 PMID:27153395 PMID:28492532 NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,360,028...33,408,516 		JBrowse link
G Satb2 SATB homeobox 2 ISS
ISO 		OMIM:119540
ClinVar Annotator: match by term: Isolated cleft palate 		MouseDO
ClinVar		 PMID:25326635 PMID:25533962 PMID:25741868 PMID:25885067 PMID:26596517 More... NCBI chr 9:65,842,351...66,028,569
Ensembl chr 9:65,844,570...66,021,238 		JBrowse link
Jackson-Weiss syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES | ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1456217 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 More... NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES | ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.R344G (human) 		OMIM
ClinVar
CTD
RGD		 PMID:7581378 PMID:7655462 PMID:7668257 PMID:7719329 PMID:7719344 More... RGD:12801470 NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
Jaw Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otx2 orthodenticle homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12183386 NCBI chr15:24,422,876...24,432,709
Ensembl chr15:24,422,876...24,432,472 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:224,263,823...224,694,350
Ensembl chr 1:224,264,678...224,694,347 		JBrowse link
G Pold1 DNA polymerase delta 1, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770608 NCBI chr 1:104,161,984...104,178,074
Ensembl chr 1:104,162,016...104,172,982 		JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16580747 NCBI chr 4:59,311,084...59,341,280
Ensembl chr 4:59,311,041...59,341,281 		JBrowse link
G Twsg1 twisted gastrulation BMP signaling modulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15013800 NCBI chr 9:112,979,972...113,014,315
Ensembl chr 9:112,979,972...113,014,315 		JBrowse link
jaw-winking syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif5c kinesin family member 5C ISO ClinVar Annotator: match by term: Jaw-winking syndrome ClinVar PMID:25741868 NCBI chr 3:54,441,266...54,591,630
Ensembl chr 3:54,441,310...54,594,813 		JBrowse link
G Myh10 myosin heavy chain 10 ISO ClinVar Annotator: match by term: Jaw-winking syndrome ClinVar PMID:25741868 NCBI chr10:53,891,955...54,024,032
Ensembl chr10:53,893,166...54,024,036 		JBrowse link
Joubert syndrome with orofaciodigital defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cplane1 ciliogenesis and planar polarity effector complex subunit 1 ISO ClinVar Annotator: match by term: OFDS VI | ClinVar Annotator: match by term: Oral-facial-digital syndrome type 6 | ClinVar Annotator: match by term: Orofaciodigital syndrome VI | ClinVar Annotator: match by term: POLYDACTYLY, CLEFT LIP/PALATE OR LINGUAL LUMP, AND PSYCHOMOTOR RETARDATION | ClinVar Annotator: match by term: VARADI SYNDROME | ClinVar Annotator: match by term: Varadi-Papp syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:10488899 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 2:58,996,119...59,096,817
Ensembl chr 2:58,996,130...59,096,817 		JBrowse link
Juberg-Hayward Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 ISO ClinVar Annotator: match by term: Cleft lip/palate with abnormal thumbs and microcephaly | ClinVar Annotator: match by term: Juberg-Hayward syndrome | ClinVar Annotator: match by term: Orocraniodigital syndrome OMIM
ClinVar		 PMID:1642282 PMID:15821733 PMID:16380922 PMID:18411254 PMID:18414213 More... NCBI chr15:44,210,124...44,230,785
Ensembl chr15:44,210,641...44,231,304
Ensembl chr15:44,210,641...44,231,304 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome
ClinVar Annotator: match by term: Cleft lip/palate with abnormal thumbs and microcephaly | ClinVar Annotator: match by term: Cranio-oro-digital syndrome 		ClinVar PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 More... NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
Kapur Toriello Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Kapur-Toriello syndrome ClinVar PMID:25741868 NCBI chr15:22,098,191...22,113,145
Ensembl chr15:22,098,470...22,105,172 		JBrowse link
Kaufman oculocerebrofacial syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISO ClinVar Annotator: match by term: Blepharophimosis-ptosis-intellectual disability syndrome ClinVar PMID:11115846 NCBI chr10:60,031,441...60,090,259
Ensembl chr10:60,032,514...60,090,196 		JBrowse link
G Ube3b ubiquitin protein ligase E3B ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Blepharophimosis-ptosis-intellectual disability syndrome | ClinVar Annotator: match by term: Oculocerebrofacial syndrome, Kaufman type | ClinVar Annotator: match by term: UBE3B-related condition
OMIM:244450 		CTD
ClinVar
MouseDO
OMIM		 PMID:1694631 PMID:9536098 PMID:14556252 PMID:16199547 PMID:17576681 More... NCBI chr12:47,844,368...47,890,702
Ensembl chr12:47,844,369...47,890,702 		JBrowse link
Keppen-Lubinsky Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 ISO ClinVar Annotator: match by term: Keppen-Lubinsky syndrome OMIM
ClinVar		 PMID:25741868 NCBI chr11:47,531,312...47,778,348
Ensembl chr11:47,531,312...47,778,348 		JBrowse link
Kleefstra syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome ClinVar
RGD		 PMID:25741868 PMID:21538692 PMID:21910222 PMID:19896504 RGD:9589137, RGD:9589144, RGD:9589139 NCBI chr 3:27,978,888...28,127,178
Ensembl chr 3:27,978,888...28,127,349 		JBrowse link
Kleefstra syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:21344641 PMID:22610116 PMID:23307537 PMID:25590979 PMID:25741868 More... NCBI chr 4:177,262,848...177,386,837
Ensembl chr 4:177,262,848...177,386,348 		JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO
ISS 		ClinVar Annotator: match by term: EHMT1-related condition | ClinVar Annotator: match by term: Kleefstra syndrome 1
OMIM:610253
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:2663354 PMID:9536098 PMID:15805155 PMID:16199547 PMID:16826528 More... NCBI chr 3:27,978,888...28,127,178
Ensembl chr 3:27,978,888...28,127,349 		JBrowse link
G Kmt2c lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:25741868 PMID:39013459 NCBI chr 4:10,353,698...10,755,965
Ensembl chr 4:10,353,735...10,568,620 		JBrowse link
G Nr1i3 nuclear receptor subfamily 1, group I, member 3 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22726846 NCBI chr13:86,165,327...86,170,362
Ensembl chr13:86,165,349...86,170,370 		JBrowse link
G Paep progestagen associated endometrial protein ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:25741868 NCBI chr 3:28,929,252...28,932,592 JBrowse link
Kleefstra syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kmt2c lysine methyltransferase 2C ISO ClinVar Annotator: match by term: KMT2C-related NDD | ClinVar Annotator: match by term: KMT2C-related condition | ClinVar Annotator: match by term: Kleefstra syndrome 2 | ClinVar Annotator: match by term: Kleefstra syndrome due to a point mutation OMIM
ClinVar		 PMID:16199547 PMID:22726846 PMID:22832583 PMID:24033266 PMID:24728327 More... NCBI chr 4:10,353,698...10,755,965
Ensembl chr 4:10,353,735...10,568,620 		JBrowse link
Klippel-Feil syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo18b myosin XVIIIb ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | ClinVar Annotator: match by term: Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism | ClinVar Annotator: match by term: MYO18B-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25748484 More... NCBI chr12:49,421,062...49,614,127
Ensembl chr12:49,407,451...49,614,126 		JBrowse link
Kniest dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:22,098,191...22,113,145
Ensembl chr15:22,098,470...22,105,172 		JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:204,509,136...204,702,264
Ensembl chr 2:204,509,136...204,702,264 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:4,788,829...4,818,492
Ensembl chr20:4,788,829...4,817,648 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Kniest dysplasia
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 More... NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:130,977,561...131,006,627 		JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:34,081,364...34,164,552
Ensembl chr 9:34,003,905...34,164,543 		JBrowse link
G Col9a2 collagen type IX alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:139,892,798...139,910,131
Ensembl chr 5:139,892,798...139,909,855 		JBrowse link
G Col9a3 collagen type IX alpha 3 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:188,089,337...188,112,034
Ensembl chr 3:188,089,403...188,112,270 		JBrowse link
G Gzf1 GDNF-inducible zinc finger protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:156,572,152...156,584,369
Ensembl chr 3:156,572,250...156,584,363 		JBrowse link
G Kcnj13 potassium inwardly-rectifying channel, subfamily J, member 13 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:95,509,228...95,528,400
Ensembl chr 9:95,510,877...95,520,817 		JBrowse link
G Loxl3 lysyl oxidase-like 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:117,098,358...117,114,673
Ensembl chr 4:117,099,635...117,115,046 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:74,597,148...74,754,535
Ensembl chr 3:74,597,148...74,754,535 		JBrowse link
G P3h2 prolyl 3-hydroxylase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:88,139,086...88,280,221
Ensembl chr11:88,139,078...88,281,203 		JBrowse link
G Plod3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:25,313,070...25,323,631
Ensembl chr12:25,313,072...25,323,631 		JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:56,918,662...56,937,032
Ensembl chr18:56,923,337...56,937,012 		JBrowse link
G Slitrk6 SLIT and NTRK-like family, member 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:93,977,812...93,984,431
Ensembl chr15:93,969,038...93,984,526 		JBrowse link
G Vcan versican ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:22,497,035...22,595,955
Ensembl chr 2:22,497,035...22,595,955 		JBrowse link
G Xylt2 xylosyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:80,102,776...80,116,346
Ensembl chr10:80,102,873...80,116,257 		JBrowse link
Kniest Like Dysplasia Lethal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 More... NCBI chr 5:154,960,818...155,061,971
Ensembl chr 5:154,960,846...155,061,971 		JBrowse link
Larsen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:171,866,428...171,868,564
Ensembl chr 5:171,864,094...171,874,789 		JBrowse link
G B3gat3 beta-1,3-glucuronyltransferase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:215,246,453...215,253,033
Ensembl chr 1:215,246,482...215,266,876 		JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:9,023,667...9,032,742
Ensembl chr17:9,023,618...9,032,745 		JBrowse link
G Camk2a calcium/calmodulin-dependent protein kinase II alpha ISO ClinVar Annotator: match by term: Larsen syndrome, dominant type ClinVar PMID:25741868 NCBI chr18:56,648,779...56,711,505
Ensembl chr18:56,649,025...56,711,504 		JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:104,135,676...104,148,854
Ensembl chr10:104,135,682...104,148,698 		JBrowse link
G Chst3 carbohydrate sulfotransferase 3 ISO ClinVar Annotator: match by term: Larsen syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD		 PMID:25741868 PMID:28492532 NCBI chr20:28,657,308...28,694,976
Ensembl chr20:28,657,308...28,694,526 		JBrowse link
G Csgalnact1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:25,761,946...26,097,306
Ensembl chr16:26,002,530...26,096,065 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Larsen syndrome ClinVar PMID:7670477 PMID:8589686 PMID:9452043 PMID:9672519 PMID:10360392 More... NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		JBrowse link
G Flnb filamin B ISO ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders | ClinVar Annotator: match by term: Larsen syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:14991055 PMID:16648377 PMID:16752402 PMID:16801345 More... NCBI chr15:19,392,212...19,525,278
Ensembl chr15:19,392,216...19,525,209 		JBrowse link
G Gorab golgin, RAB6-interacting ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:78,278,868...78,295,490
Ensembl chr13:78,278,871...78,295,488 		JBrowse link
G Gzf1 GDNF-inducible zinc finger protein 1 ISO ClinVar Annotator: match by term: Larsen syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD		 PMID:25741868 NCBI chr 3:156,572,152...156,584,369
Ensembl chr 3:156,572,250...156,584,363 		JBrowse link
G Kif22 kinesin family member 22 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:191,065,875...191,080,955
Ensembl chr 1:191,065,875...191,080,878 		JBrowse link
G P4ha1 prolyl 4-hydroxylase subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:27,784,696...27,895,785
Ensembl chr20:27,845,141...27,895,404 		JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:58,738,734...59,115,252
Ensembl chr18:58,738,740...59,115,215 		JBrowse link
G Plod3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:25,313,070...25,323,631
Ensembl chr12:25,313,072...25,323,631 		JBrowse link
G Ski Ski proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:170,995,851...171,064,957
Ensembl chr 5:170,995,851...171,064,957 		JBrowse link
G Xylt1 xylosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:181,078,222...181,361,047
Ensembl chr 1:181,078,222...181,361,047 		JBrowse link
G Xylt2 xylosyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:80,102,776...80,116,346
Ensembl chr10:80,102,873...80,116,257 		JBrowse link
Larsen-like syndrome B3GAT3 type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3gat3 beta-1,3-glucuronyltransferase 3 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type | ClinVar Annotator: match by term: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS | ClinVar Annotator: match by term: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21763480 PMID:24668659 More... NCBI chr 1:215,246,453...215,253,033
Ensembl chr 1:215,246,482...215,266,876 		JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:1221956 PMID:1640425 PMID:15211654 PMID:18158310 PMID:20691685 More... NCBI chr17:9,023,667...9,032,742
Ensembl chr17:9,023,618...9,032,745 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:25741868 PMID:28492532 PMID:37644014 NCBI chr20:4,788,829...4,818,492
Ensembl chr20:4,788,829...4,817,648 		JBrowse link
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Leukodystrophy and acquired microcephaly with or without dystonia | ClinVar Annotator: match by term: PLEKHG2-related condition OMIM
ClinVar		 PMID:25741868 PMID:26573021 PMID:28492532 PMID:34326120 PMID:35203342 NCBI chr 1:92,779,449...92,792,610
Ensembl chr 1:92,779,449...92,792,610 		JBrowse link
Li-Takada-Miyake syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gon4l gon-4 like ISO ClinVar Annotator: match by term: GON4L-related disorder | ClinVar Annotator: match by term: LI-TAKADA-MIYAKE SYNDROME ClinVar
OMIM		 PMID:39500882 NCBI chr 2:176,531,274...176,604,446
Ensembl chr 2:176,531,274...176,604,444 		JBrowse link
linear skin defects with multiple congenital anomalies 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox7b cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: COX7B-related condition | ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 2 OMIM
ClinVar		 PMID:9747372 PMID:23122588 PMID:25741868 PMID:28492532 NCBI chr  X:75,149,036...75,155,285
Ensembl chr  X:75,148,996...75,155,284 		JBrowse link
lissencephaly 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation ClinVar PMID:10873396 PMID:22412862 PMID:25741868 PMID:28492532 NCBI chr10:57,154,226...57,163,455
Ensembl chr10:57,154,226...57,163,455 		JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation ClinVar PMID:18414213 PMID:18976153 PMID:19181906 PMID:19464101 PMID:20981092 More... NCBI chr10:16,844,888...16,851,458
Ensembl chr10:16,848,582...16,851,452 		JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Lissencephaly 3 | ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation | ClinVar Annotator: match by term: Lissencephaly type 3 | ClinVar Annotator: match by term: TUBA1A-associated tubulinopathy | ClinVar Annotator: match by term: TUBA1A-related condition | ClinVar Annotator: match by term: Tubulinopathy-associated dysgyria
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds 		OMIM
ClinVar
CTD
RGD		 PMID:17218254 PMID:17584854 PMID:18199681 PMID:18414213 PMID:18669490 More... RGD:11067701 NCBI chr 7:131,992,151...131,996,850
Ensembl chr 7:131,968,770...131,996,035 		JBrowse link
lissencephaly 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) ClinVar NCBI chr10:1,250,554...1,345,681
Ensembl chr10:1,263,194...1,345,678 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) | ClinVar Annotator: match by term: NDE1-related condition OMIM
ClinVar		 PMID:18414213 PMID:21529751 PMID:21529752 PMID:24033266 PMID:25326635 More... NCBI chr10:1,347,010...1,391,167
Ensembl chr10:1,347,018...1,383,447 		JBrowse link
lissencephaly 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Katnb1 katanin regulatory subunit B1 ISO ClinVar Annotator: match by term: KATNB1-related condition | ClinVar Annotator: match by term: Lissencephaly 6 with microcephaly OMIM
ClinVar		 PMID:25521378 PMID:25521379 PMID:25741868 PMID:28492532 NCBI chr19:9,927,249...9,946,750
Ensembl chr19:9,927,249...9,946,738 		JBrowse link
Loeys-Dietz syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:17517255 PMID:19647838 PMID:24871971 PMID:25741868 PMID:28492532 More... NCBI chr10:13,886,948...13,944,286
Ensembl chr10:13,887,083...13,944,285 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:2049575 PMID:21086191 PMID:24033266 PMID:24055113 PMID:25637381 More... NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:54,866,632...54,903,232 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar NCBI chr 9:54,940,768...55,090,151
Ensembl chr 9:54,940,764...55,090,150 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:1729284 PMID:7611299 PMID:8880577 PMID:8882780 PMID:10766875 More... NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:53,696,197...53,901,992
Ensembl chr18:53,697,708...53,902,191 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:22511748 PMID:24033266 PMID:25433566 PMID:25741868 PMID:26017485 More... NCBI chr10:1,250,554...1,345,681
Ensembl chr10:1,263,194...1,345,678 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:28492532 NCBI chr11:79,288,243...79,535,450
Ensembl chr11:79,288,243...79,535,659 		JBrowse link
G Smad2 SMAD family member 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:16199547 PMID:28492532 NCBI chr18:72,124,792...72,193,345
Ensembl chr18:72,124,863...72,187,388 		JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A 		CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21217753 PMID:21778426 More... NCBI chr 8:73,022,204...73,132,324
Ensembl chr 8:73,024,760...73,132,324 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A 		CTD
ClinVar
MouseDO		 PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 More... NCBI chr13:100,691,540...100,793,227
Ensembl chr13:100,692,953...100,792,856 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome 		CTD
ClinVar		 PMID:23824657 PMID:25741868 PMID:25835445 PMID:26188975 PMID:28492532 More... NCBI chr 6:111,435,170...111,457,646
Ensembl chr 6:111,435,170...111,456,946 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A 		CTD
ClinVar
MouseDO		 PMID:2511639 PMID:2647812 PMID:9536098 PMID:10025408 PMID:15731757 More... NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:66,449,293...66,527,260 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A 		CTD
ClinVar
MouseDO		 PMID:8246946 PMID:9395234 PMID:9536098 PMID:9590282 PMID:9771922 More... NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:124,674,986...124,761,469 		JBrowse link
Loeys-Dietz syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 | ClinVar Annotator: match by term: TGFBR1-related disorder ClinVar
OMIM		 PMID:2511639 PMID:2647812 PMID:9536098 PMID:10025408 PMID:15731757 More... NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:66,449,293...66,527,260 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 5 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 ClinVar PMID:16251899 PMID:16928994 PMID:18781618 PMID:18852674 PMID:19006214 More... NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:124,674,986...124,761,469 		JBrowse link
Loeys-Dietz syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 		ClinVar PMID:845663 PMID:1301946 PMID:1569206 PMID:2005308 PMID:2030732 More... NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections OMIM
ClinVar		 PMID:8199354 PMID:8246946 PMID:8317497 PMID:9395234 PMID:9536098 More... NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:124,674,986...124,761,469 		JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 2
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE II | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 		ClinVar PMID:9536098 PMID:16247757 PMID:17576681 PMID:18484607 PMID:19881469 More... NCBI chr 7:27,529,977...27,554,980
Ensembl chr 7:27,529,978...27,554,937 		JBrowse link
Loeys-Dietz syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: ANEURYSMS-OSTEOARTHRITIS SYNDROME | ClinVar Annotator: match by term: LOEYS-DIETZ SYNDROME WITH OSTEOARTHRITIS | ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C | ClinVar Annotator: match by term: SMAD3-related condition OMIM
ClinVar		 PMID:9536098 PMID:10092624 PMID:11224571 PMID:15350224 PMID:16828225 More... NCBI chr 8:73,022,204...73,132,324
Ensembl chr 8:73,024,760...73,132,324 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C ClinVar PMID:28492532 PMID:30796334 NCBI chr 8:73,345,457...73,414,985
Ensembl chr 8:73,345,460...73,414,149 		JBrowse link
Loeys-Dietz syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 OMIM
ClinVar		 PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 More... NCBI chr13:100,691,540...100,793,227
Ensembl chr13:100,692,953...100,792,856 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:2618446 PMID:24798638 PMID:25835445 PMID:28425089 PMID:28492532 NCBI chr 6:111,435,170...111,457,646
Ensembl chr 6:111,435,170...111,456,946 		JBrowse link
Loeys-Dietz syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 5 | ClinVar Annotator: match by term: Rienhoff syndrome OMIM
ClinVar		 PMID:1631557 PMID:2618446 PMID:7737999 PMID:9536098 PMID:9683588 More... NCBI chr 6:111,435,170...111,457,646
Ensembl chr 6:111,435,170...111,456,946 		JBrowse link
Loeys-Dietz syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad2 SMAD family member 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 6 OMIM
ClinVar		 PMID:15210694 PMID:25741868 PMID:26247899 PMID:28283438 PMID:28492532 More... NCBI chr18:72,124,792...72,193,345
Ensembl chr18:72,124,863...72,187,388 		JBrowse link
Lui-Jee-Baron syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spin4 spindlin family, member 4 ISO OMIM NCBI chr  X:63,898,338...63,902,427
Ensembl chr  X:63,900,148...63,903,811 		JBrowse link
Luscan-Lumish Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Luscan-Lumish syndrome | ClinVar Annotator: match by term: Luscan-lumish syndrome | ClinVar Annotator: match by term: SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:20864444 PMID:22495309 PMID:23160955 More... NCBI chr 8:119,390,207...119,475,863
Ensembl chr 8:119,390,207...119,475,863 		JBrowse link
Macrocephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 More... NCBI chr 1:105,734,992...105,816,272
Ensembl chr 1:105,734,992...105,815,982 		JBrowse link
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:22608503 PMID:22610116 PMID:23307537 PMID:25741868 PMID:25790160 More... NCBI chr 4:177,262,848...177,386,837
Ensembl chr 4:177,262,848...177,386,348 		JBrowse link
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 More... NCBI chr13:91,475,839...91,758,060
Ensembl chr13:91,475,839...91,748,020 		JBrowse link
G Ankrd11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:67,848,836...68,007,491
Ensembl chr19:67,848,844...68,007,491 		JBrowse link
G Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr 4:161,653,048...161,675,422
Ensembl chr 4:161,653,048...161,680,301
Ensembl chr 4:161,653,048...161,680,301 		JBrowse link
G Chd8 chromodomain helicase DNA binding protein 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Macrocephaly 		CTD
ClinVar		 PMID:24998929 PMID:25741868 PMID:30670789 PMID:32267004 NCBI chr15:27,379,285...27,438,959
Ensembl chr15:27,379,285...27,417,851 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:24033266 PMID:28492532 NCBI chr20:4,788,829...4,818,492
Ensembl chr20:4,788,829...4,817,648 		JBrowse link
G Fam177a1 family with sequence similarity 177, member A1 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25558065 NCBI chr 6:78,367,780...78,382,703
Ensembl chr 6:78,367,780...78,392,836 		JBrowse link
G Foxo4 forkhead box O4 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 NCBI chr  X:70,425,218...70,432,120
Ensembl chr  X:70,425,563...70,432,120 		JBrowse link
G Kcna6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 NCBI chr 4:161,229,103...161,262,352
Ensembl chr 4:161,191,961...161,263,240 		JBrowse link
G Lrp10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:26076356 NCBI chr15:31,891,358...31,897,530
Ensembl chr15:31,891,362...31,897,528 		JBrowse link
G Map1b microtubule-associated protein 1B ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 NCBI chr 2:32,551,423...32,644,471
Ensembl chr 2:32,551,423...32,657,094 		JBrowse link
G Morc4 MORC family CW-type zinc finger 4 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 NCBI chr  X:108,269,197...108,317,611
Ensembl chr  X:108,269,383...108,317,553 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 PMID:28492532 PMID:33077954 PMID:34197453 NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:164,167,928...164,277,435 		JBrowse link
G Nfia nuclear factor I/A ISO ClinVar Annotator: match by term: Macrocephaly ClinVar NCBI chr 5:117,359,006...117,897,391
Ensembl chr 5:117,359,077...117,891,395 		JBrowse link
G Nfib nuclear factor I/B ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 PMID:30388402 PMID:39825153 NCBI chr 5:101,805,168...102,020,618
Ensembl chr 5:101,805,168...102,019,945 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Megalencephaly, autosomal dominant ClinVar PMID:21270786 PMID:25741868 PMID:27631024 PMID:27981572 PMID:28492532 More... NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:117,143,468...117,177,411 		JBrowse link
G Pten phosphatase and tensin homolog ISO DNA:missense mutation:cds:p.M134I (human)
ClinVar Annotator: match by term: Macrocephaly 		ClinVar
RGD		 PMID:10772390 PMID:21828076 PMID:25741868 PMID:28492532 PMID:23124040 RGD:12859034 NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:240,043,707...240,110,330 		JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:205,954,713...205,966,188
Ensembl chr 1:205,958,032...205,965,877 		JBrowse link
G Trit1 tRNA isopentenyltransferase 1 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 PMID:30977854 PMID:36047296 NCBI chr 5:140,578,459...140,623,881
Ensembl chr 5:140,580,453...140,623,881 		JBrowse link
G Wdfy3 WD repeat and FYVE domain containing 3 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 PMID:31327001 NCBI chr14:7,873,946...8,115,002
Ensembl chr14:7,911,151...8,114,993 		JBrowse link
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Macrocephaly with multiple epiphyseal dysplasia and distinctive facies
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9689990 PMID:16199547 PMID:19666503 PMID:21552264 PMID:21633164 More... NCBI chr 1:143,041,206...143,067,873
Ensembl chr 1:143,049,036...143,067,890 		JBrowse link
MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfib nuclear factor I/B ISO ClinVar Annotator: match by term: Macrocephaly, acquired, with impaired intellectual development | ClinVar Annotator: match by term: NFIB-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30388402 PMID:39825153 NCBI chr 5:101,805,168...102,020,618
Ensembl chr 5:101,805,168...102,019,945 		JBrowse link
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rin2 Ras and Rab interactor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MACS SYNDROME | ClinVar Annotator: match by term: RIN2-related condition | ClinVar Annotator: match by term: TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS 		OMIM
CTD
ClinVar		 PMID:19631308 PMID:20424861 PMID:20954239 PMID:24449201 PMID:25741868 More... NCBI chr 3:153,540,147...153,756,897
Ensembl chr 3:153,540,214...153,756,897 		JBrowse link
Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erc1 ELKS/RAB6-interacting/CAST family member 1 ISO ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation ClinVar PMID:25741868 NCBI chr 4:154,435,936...154,727,987
Ensembl chr 4:154,435,944...154,727,987 		JBrowse link
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO ClinVar Annotator: match by term: HERC1-related disorder | ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation OMIM
ClinVar		 PMID:25741868 PMID:26138117 PMID:26153217 PMID:27108999 PMID:28492532 More... NCBI chr 8:75,796,347...75,965,347
Ensembl chr 8:75,796,357...75,965,347 		JBrowse link
MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zbtb7a zinc finger and BTB domain containing 7A ISO ClinVar Annotator: match by term: Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin OMIM
ClinVar		 PMID:25741868 PMID:31645653 PMID:34515416 NCBI chr 7:9,211,733...9,229,273
Ensembl chr 7:9,214,496...9,227,252 		JBrowse link
macrocephaly-autism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pten phosphatase and tensin homolog ISO
ISS 		DNA:missense mutations:cds:p.H93R, p.D252G, p.F241S (human)
ClinVar Annotator: match by term: Macrocephaly-autism syndrome | ClinVar Annotator: match by term: Macrocephaly/autism syndrome
OMIM:605309
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1336932 PMID:9140396 PMID:9241266 PMID:9259288 PMID:9399897 More... RGD:12832751 NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:240,043,707...240,110,330 		JBrowse link
G Wdfy3 WD repeat and FYVE domain containing 3 ISO ClinVar Annotator: match by term: Macrocephaly-autism syndrome ClinVar PMID:32720330 NCBI chr14:7,873,946...8,115,002
Ensembl chr14:7,911,151...8,114,993 		JBrowse link
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pold1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome ClinVar
OMIM		 PMID:7704014 PMID:9536098 PMID:17576681 PMID:19966286 PMID:21157497 More... NCBI chr 1:104,161,984...104,178,074
Ensembl chr 1:104,162,016...104,172,982 		JBrowse link
Mandibuloacral Dysplasia Progeroid Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtx2 metaxin 2 ISO ClinVar Annotator: match by term: Mandibuloacral dysplasia progeroid syndrome | ClinVar Annotator: match by term: Progeroid mandibuloacral dysplasia OMIM
ClinVar		 PMID:25741868 PMID:32917887 NCBI chr 3:80,137,556...80,199,547
Ensembl chr 3:80,137,581...80,271,684 		JBrowse link
mandibuloacral dysplasia type B lipodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zmpste24 zinc metallopeptidase STE24 ISO ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3840649 PMID:8152880 PMID:9536098 PMID:12913070 PMID:15317753 More... NCBI chr 5:139,912,395...139,945,532
Ensembl chr 5:139,913,671...139,945,532 		JBrowse link
Mandibulofacial Dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Mandibulofacial dysostosis 		ClinVar
RGD		 PMID:25741868 PMID:23188108 RGD:10045556 NCBI chr10:88,304,992...88,352,229
Ensembl chr10:88,304,992...88,346,299 		JBrowse link
G Polr1b RNA polymerase I subunit B ISO ClinVar Annotator: match by term: Treacher Collins-Franceschetti syndrome ClinVar PMID:31649276 NCBI chr 3:136,787,130...136,811,608
Ensembl chr 3:136,787,107...136,811,607 		JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO CTD Direct Evidence: marker/mechanism CTD PMID:21131976 NCBI chr 9:22,233,318...22,237,430
Ensembl chr 9:22,233,305...22,237,428 		JBrowse link
G Polr1d RNA polymerase I and III subunit D ISO CTD Direct Evidence: marker/mechanism CTD PMID:21131976 NCBI chr12:13,084,505...13,118,069
Ensembl chr12:13,084,512...13,095,627 		JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: TREACHER COLLINS-FRANCESCHETTI SYNDROME 		CTD
ClinVar		 PMID:16938878 PMID:25741868 PMID:28492532 NCBI chr18:56,537,437...56,570,727
Ensembl chr18:56,537,437...56,570,727 		JBrowse link
mandibulofacial dysostosis with alopecia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednra endothelin receptor type A ISO
ISS 		OMIM:616367
ClinVar Annotator: match by term: Mandibulofacial dysostosis with alopecia 		OMIM
MouseDO
ClinVar		 PMID:16116593 PMID:20583178 PMID:25741868 PMID:25772936 PMID:28492532 NCBI chr19:47,137,360...47,207,961
Ensembl chr19:47,137,771...47,201,284 		JBrowse link
Mandibulofacial Dysostosis with Mental Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL RETARDATION ClinVar PMID:9973280 PMID:10396622 PMID:11017087 PMID:11527935 PMID:11726554 More... NCBI chr 2:212,849,470...212,986,730
Ensembl chr 2:212,755,803...212,986,729 		JBrowse link
mandibulofacial dysostosis, Guion-Almeida type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO ClinVar Annotator: match by term: EFTUD2-related condition | ClinVar Annotator: match by term: Mandibulofacial dysostosis-microcephaly syndrome
DNA:mutations:multiple (human) 		OMIM
ClinVar
RGD		 PMID:9536098 PMID:16199547 PMID:16760738 PMID:17576681 PMID:19334086 More... RGD:10045557 NCBI chr10:88,304,992...88,352,229
Ensembl chr10:88,304,992...88,346,299 		JBrowse link
Marles Greenberg Persaud Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frem1 Fras1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: MARLES SYNDROME | ClinVar Annotator: match by term: Marles syndrome
DNA:mutation:splice junction:
DNA:deletion,frameshift,missense mutations:exons,cds:
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:11332973 PMID:11822703 PMID:16199547 PMID:17352387 More... RGD:11070482, RGD:11070482 NCBI chr 5:102,367,201...102,515,464
Ensembl chr 5:102,367,201...102,515,404 		JBrowse link
Marshall syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:22,098,191...22,113,145
Ensembl chr15:22,098,470...22,105,172 		JBrowse link
G Col11a1 collagen type XI alpha 1 chain susceptibility ISO DNA:SNP:splice junction:
ClinVar Annotator: match by term: Marshall syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD
RGD		 PMID:9129742 PMID:9529347 PMID:9536098 PMID:9792885 PMID:10486316 More... RGD:1600881 NCBI chr 2:204,509,136...204,702,264
Ensembl chr 2:204,509,136...204,702,264 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:4,788,829...4,818,492
Ensembl chr20:4,788,829...4,817,648 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:130,977,561...131,006,627 		JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:34,081,364...34,164,552
Ensembl chr 9:34,003,905...34,164,543 		JBrowse link
G Col9a2 collagen type IX alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:139,892,798...139,910,131
Ensembl chr 5:139,892,798...139,909,855 		JBrowse link
G Col9a3 collagen type IX alpha 3 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:188,089,337...188,112,034
Ensembl chr 3:188,089,403...188,112,270 		JBrowse link
G Gzf1 GDNF-inducible zinc finger protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:156,572,152...156,584,369
Ensembl chr 3:156,572,250...156,584,363 		JBrowse link
G Kcnj13 potassium inwardly-rectifying channel, subfamily J, member 13 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:95,509,228...95,528,400
Ensembl chr 9:95,510,877...95,520,817 		JBrowse link
G Loxl3 lysyl oxidase-like 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:117,098,358...117,114,673
Ensembl chr 4:117,099,635...117,115,046 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:74,597,148...74,754,535
Ensembl chr 3:74,597,148...74,754,535 		JBrowse link
G P3h2 prolyl 3-hydroxylase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:88,139,086...88,280,221
Ensembl chr11:88,139,078...88,281,203 		JBrowse link
G Plod3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:25,313,070...25,323,631
Ensembl chr12:25,313,072...25,323,631 		JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:56,918,662...56,937,032
Ensembl chr18:56,923,337...56,937,012 		JBrowse link
G Slitrk6 SLIT and NTRK-like family, member 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:93,977,812...93,984,431
Ensembl chr15:93,969,038...93,984,526 		JBrowse link
G Vcan versican ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:22,497,035...22,595,955
Ensembl chr 2:22,497,035...22,595,955 		JBrowse link
G Xylt2 xylosyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:80,102,776...80,116,346
Ensembl chr10:80,102,873...80,116,257 		JBrowse link
Marshall-Smith syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfix nuclear factor I X ISO ClinVar Annotator: match by term: Marshall-Smith syndrome | ClinVar Annotator: match by term: NFIX-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8910820 PMID:9536098 PMID:9717599 PMID:16086394 PMID:16199547 More... NCBI chr19:40,259,873...40,356,966
Ensembl chr19:40,260,084...40,353,092 		JBrowse link
Marshall/Stickler Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Marshall/Stickler syndrome ClinVar PMID:1536174 PMID:10486316 NCBI chr 2:204,509,136...204,702,264
Ensembl chr 2:204,509,136...204,702,264 		JBrowse link
Maxillofacial Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen type III alpha 1 chain IDA RGD PMID:10373016 RGD:704391 NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:54,866,632...54,903,232 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16832597 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105 		JBrowse link
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO ClinVar Annotator: match by term: Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability ClinVar PMID:26153217 PMID:27108999 NCBI chr 8:75,796,347...75,965,347
Ensembl chr 8:75,796,357...75,965,347 		JBrowse link
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Megalencephaly-capillary malformation-polymicrogyria syndrome ClinVar PMID:22729224 PMID:23745724 PMID:25416470 PMID:25523067 PMID:28086757 More... NCBI chr13:91,475,839...91,758,060
Ensembl chr13:91,475,839...91,748,020 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: MACROCEPHALY-CAPILLARY MALFORMATION | ClinVar Annotator: match by term: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME | ClinVar Annotator: match by term: Megalencephaly-capillary malformation-polymicrogyria syndrome | ClinVar Annotator: match by term: PIK3CA related overgrowth spectrum OMIM
ClinVar		 PMID:15016963 PMID:15520168 PMID:15608678 PMID:15930273 PMID:16353168 More... NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:117,143,468...117,177,411 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Vascular Malformations and Overgrowth ClinVar PMID:25741868 PMID:34040190 NCBI chr 2:34,612,946...34,697,660
Ensembl chr 2:34,612,946...34,626,347 		JBrowse link
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Megalencephaly cutis marmorata telangiectatica congenita ClinVar PMID:16357568 PMID:21984976 PMID:22729224 PMID:24497998 PMID:25741868 More... NCBI chr16:18,699,389...18,708,045
Ensembl chr16:18,699,448...18,709,665 		JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: MACROCEPHALY-CAPILLARY MALFORMATION ClinVar PMID:24469055 PMID:25741868 PMID:28492532 NCBI chr 2:176,478,616...176,493,269
Ensembl chr 2:176,478,596...176,494,684 		JBrowse link
Megalencephaly-Polydactyly Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Megalencephaly-polydactyly syndrome OMIM
ClinVar		 PMID:18470948 PMID:20301770 PMID:25741868 PMID:28492532 NCBI chr 6:41,446,683...41,452,584
Ensembl chr 6:41,446,684...41,452,508 		JBrowse link
MEHMO syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2s3 eukaryotic translation initiation factor 2 subunit gamma ISO ClinVar Annotator: match by term: EIF2S3-related condition | ClinVar Annotator: match by term: MEHMO syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:23063529 PMID:25741868 PMID:25741869 PMID:27333055 PMID:28055140 More... NCBI chr  X:62,910,292...62,933,936
Ensembl chr  X:62,910,293...62,934,489 		JBrowse link
Meier-Gorlin syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp5 bone morphogenetic protein 5 ISS OMIM:224690 | OMIM:613800 | OMIM:613803 | OMIM:613804 | OMIM:613805 MouseDO NCBI chr 8:85,397,629...85,520,374
Ensembl chr 8:85,396,925...85,520,189 		JBrowse link
G Cdc45 cell division cycle 45 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:95,689,702...95,714,980
Ensembl chr11:95,689,919...95,714,981 		JBrowse link
G Cdc6 cell division cycle 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Meier-Gorlin syndrome 		CTD
ClinVar		 PMID:21358632 PMID:28492532 NCBI chr10:84,360,361...84,374,239
Ensembl chr10:84,360,381...84,374,241 		JBrowse link
G Cdt1 chromatin licensing and DNA replication factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Meier-Gorlin syndrome 		CTD
ClinVar		 PMID:11992493 PMID:21358632 PMID:22333897 PMID:23023959 PMID:24033266 More... NCBI chr19:67,529,249...67,534,195
Ensembl chr19:67,529,201...67,534,194 		JBrowse link
G Donson DNA replication fork stabilization factor DONSON ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 PMID:28492532 PMID:31407851 PMID:31784481 PMID:37638758 NCBI chr11:44,405,794...44,419,099
Ensembl chr11:44,405,804...44,418,791 		JBrowse link
G Gmnn geminin, DNA replication inhibitor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Meier-Gorlin syndrome 		CTD
ClinVar		 PMID:11477602 PMID:14973488 PMID:26637980 NCBI chr17:40,729,760...40,738,077
Ensembl chr17:40,729,824...40,738,068 		JBrowse link
G Mcm3 minichromosome maintenance complex component 3 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 PMID:33654309 NCBI chr 9:30,715,602...30,733,746
Ensembl chr 9:30,715,602...30,733,746 		JBrowse link
G Mcm7 minichromosome maintenance complex component 7 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 PMID:33654309 NCBI chr12:22,155,921...22,163,320
Ensembl chr12:22,155,921...22,163,771 		JBrowse link
G Orc1 origin recognition complex, subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: EAR, PATELLA, SHORT STATURE SYNDROME | ClinVar Annotator: match by term: Meier-Gorlin syndrome 		CTD
ClinVar		 PMID:819054 PMID:11477602 PMID:14564153 PMID:21358631 PMID:21358632 More... NCBI chr 5:128,552,975...128,581,943
Ensembl chr 5:128,552,991...128,577,071 		JBrowse link
G Orc4 origin recognition complex, subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358631 PMID:21358632 NCBI chr 3:53,700,046...53,743,293
Ensembl chr 3:53,703,615...53,742,264 		JBrowse link
G Orc6 origin recognition complex, subunit 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Meier-Gorlin syndrome 		CTD
ClinVar		 PMID:21358632 NCBI chr19:37,931,085...37,938,856
Ensembl chr19:37,931,090...37,938,856 		JBrowse link
Meier-Gorlin syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Donson DNA replication fork stabilization factor DONSON ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 ClinVar PMID:25741868 PMID:28191891 PMID:28492532 PMID:28630177 NCBI chr11:44,405,794...44,419,099
Ensembl chr11:44,405,804...44,418,791 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 ClinVar PMID:7874170 PMID:11781872 PMID:12884424 PMID:20643727 PMID:23348274 More... NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
G Orc1 origin recognition complex, subunit 1 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 | ClinVar Annotator: match by term: ORC1-related condition OMIM
ClinVar		 PMID:819054 PMID:11477602 PMID:14564153 PMID:18414213 PMID:21358631 More... NCBI chr 5:128,552,975...128,581,943
Ensembl chr 5:128,552,991...128,577,071 		JBrowse link
Meier-Gorlin syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Orc4 origin recognition complex, subunit 4 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 2 | ClinVar Annotator: match by term: ORC4-related condition OMIM
ClinVar		 PMID:11477602 PMID:18414213 PMID:21358631 PMID:21358632 PMID:22333897 More... NCBI chr 3:53,700,046...53,743,293
Ensembl chr 3:53,703,615...53,742,264 		JBrowse link
Meier-Gorlin syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Orc6 origin recognition complex, subunit 6 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 3 | ClinVar Annotator: match by term: ORC6-related condition OMIM
ClinVar		 PMID:7710253 PMID:9536098 PMID:17576681 PMID:18414213 PMID:21358632 More... NCBI chr19:37,931,085...37,938,856
Ensembl chr19:37,931,090...37,938,856 		JBrowse link
Meier-Gorlin syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: CDT1-related condition | ClinVar Annotator: match by term: Meier-Gorlin syndrome 4 OMIM
ClinVar		 PMID:9536098 PMID:11477602 PMID:11992493 PMID:16199547 PMID:17576681 More... NCBI chr19:67,529,249...67,534,195
Ensembl chr19:67,529,201...67,534,194 		JBrowse link
Meier-Gorlin syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc6 cell division cycle 6 ISO ClinVar Annotator: match by term: CDC6-related condition | ClinVar Annotator: match by term: Meier-Gorlin syndrome 5 OMIM
ClinVar		 PMID:11477602 PMID:18414213 PMID:21358632 PMID:25741868 PMID:28492532 More... NCBI chr10:84,360,361...84,374,239
Ensembl chr10:84,360,381...84,374,241 		JBrowse link
Meier-Gorlin syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gmnn geminin, DNA replication inhibitor ISO ClinVar Annotator: match by term: GMNN-related condition | ClinVar Annotator: match by term: Meier-Gorlin syndrome 6 OMIM
ClinVar		 PMID:11477602 PMID:14973488 PMID:25741868 PMID:26637980 PMID:28492532 NCBI chr17:40,729,760...40,738,077
Ensembl chr17:40,729,824...40,738,068 		JBrowse link
Meier-Gorlin syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: CDC45-related condition | ClinVar Annotator: match by term: Meier-Gorlin syndrome 7 OMIM
ClinVar		 PMID:25741868 PMID:27374770 PMID:28492532 PMID:29036220 PMID:30986546 More... NCBI chr11:95,689,702...95,714,980
Ensembl chr11:95,689,919...95,714,981 		JBrowse link
Meier-Gorlin syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcm5 minichromosome maintenance complex component 5 ISO ClinVar Annotator: match by term: MCM5-related condition | ClinVar Annotator: match by term: Meier-Gorlin syndrome 8 OMIM
ClinVar		 PMID:25741868 PMID:28198391 PMID:28492532 NCBI chr19:13,488,813...13,510,131
Ensembl chr19:13,488,813...13,517,758 		JBrowse link
Melnick-Needles syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: Melnick-Needles osteodysplasty | ClinVar Annotator: match by term: Melnick-Needles syndrome | ClinVar Annotator: match by term: OSTEODYSPLASTY OF MELNICK AND NEEDLES | ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles OMIM
ClinVar		 PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 More... NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
Menke-Hennekam Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Menke-Hennekam syndrome ClinVar PMID:25741868 PMID:27311832 PMID:29159939 PMID:29460469 PMID:30892814 NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,822,620...11,968,266 		JBrowse link
Menke-Hennekam Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Menke-Hennekam syndrome 1 OMIM
ClinVar		 PMID:9215639 PMID:9536098 PMID:11023789 PMID:12114483 PMID:12566391 More... NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,822,620...11,968,266 		JBrowse link
Menke-Hennekam Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Menke-Hennekam syndrome 2 OMIM
ClinVar		 PMID:18414213 PMID:20301699 PMID:24381114 PMID:24728327 PMID:25741868 More... NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:114,946,982...115,058,574 		JBrowse link
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med13l mediator complex subunit 13L ISO ClinVar Annotator: match by term: Cardiac anomalies - developmental delay - facial dysmorphism syndrome | ClinVar Annotator: match by term: Impaired intellectual development and distinctive facial features with cardiac defects | ClinVar Annotator: match by term: MED13L-related disorder OMIM
ClinVar		 PMID:9536098 PMID:14638541 PMID:17576681 PMID:22542183 PMID:23403903 More... NCBI chr12:43,468,556...43,665,819
Ensembl chr12:43,468,556...43,665,819 		JBrowse link
Microcephalic Osteodysplastic Primordial Dwarfism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr20:12,189,767...12,278,179
Ensembl chr20:12,192,353...12,278,178 		JBrowse link
microcephalic osteodysplastic primordial dwarfism type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Brachymelic primordial dwarfism ClinVar PMID:22958901 PMID:24111713 PMID:25741868 PMID:28492532 PMID:28798025 More... NCBI chr15:32,416,525...32,439,851
Ensembl chr15:32,416,527...32,438,194 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: MOPD I ClinVar PMID:25741868 PMID:26743238 PMID:28492532 PMID:28771489 PMID:30615648 More... NCBI chr17:63,081,527...63,667,141
Ensembl chr17:63,081,527...63,666,705 		JBrowse link
microcephalic osteodysplastic primordial dwarfism type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcnt pericentrin ISO
ISS 		ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II | ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism with tooth abnormalities | ClinVar Annotator: match by term: OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II | ClinVar Annotator: match by term: PCNT-related condition
OMIM:210720
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutations, nonsense mutation:exon:p.E220X (658G>T), 1887del, 3568_3569insT (human)
DNA:frameshift mutations, nonsense mutations, splice-site mutations:exon, intron:multiple
DNA:mutations: :multiple
DNA:deletion, nonsense mutations:exon:p.K3154del (c.9460_9462del), p.E1154X (c.3460G>T), p.P1923X (c.5765C>T) (human) 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:12210304 PMID:15372530 PMID:16199547 PMID:17576681 More... RGD:11537403, RGD:11537402, RGD:11537401, RGD:11537400 NCBI chr20:12,189,767...12,278,179
Ensembl chr20:12,192,353...12,278,178 		JBrowse link
Microcephalic Osteodysplastic Primordial Dwarfism, Type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, SICILIAN FAIRY TYPE ClinVar PMID:25741868 PMID:28492532 NCBI chr10:1,250,554...1,345,681
Ensembl chr10:1,263,194...1,345,678 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, SICILIAN FAIRY TYPE ClinVar PMID:25741868 PMID:28492532 NCBI chr10:1,347,010...1,391,167
Ensembl chr10:1,347,018...1,383,447 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: MOPD III ClinVar PMID:25351510 PMID:25741868 PMID:28237968 PMID:28492532 PMID:31195250 More... NCBI chr17:63,081,527...63,667,141
Ensembl chr17:63,081,527...63,666,705 		JBrowse link
microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aaas aladin WD repeat nucleoporin ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 7:135,342,901...135,362,545
Ensembl chr 7:135,342,901...135,362,545 		JBrowse link
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:33223528 NCBI chr 3:35,377,587...35,480,843
Ensembl chr 3:35,377,391...35,480,846 		JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:195,619,088...195,660,564
Ensembl chr 1:195,619,038...195,660,561 		JBrowse link
G Ace angiotensin I converting enzyme ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr10:91,410,129...91,430,246
Ensembl chr10:91,409,819...91,430,942 		JBrowse link
G Actg1 actin, gamma 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:106,118,106...106,120,951
Ensembl chr10:106,118,108...106,120,951 		JBrowse link
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 2:177,436,076...177,475,969
Ensembl chr 2:177,436,094...177,475,971 		JBrowse link
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr20:11,222,171...11,350,416
Ensembl chr20:11,222,164...11,350,415 		JBrowse link
G Add3 adducin 3 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:262,152,722...262,260,504
Ensembl chr 1:262,154,996...262,260,504 		JBrowse link
G Adgrl2 adhesion G protein-coupled receptor L2 ISO RGD PMID:30340542 RGD:13838661 NCBI chr 2:240,356,176...240,987,246
Ensembl chr 2:240,356,177...240,855,933 		JBrowse link
G Adnp activity-dependent neuroprotector homeobox ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 3:177,310,258...177,340,379
Ensembl chr 3:177,310,258...177,336,188 		JBrowse link
G Agt angiotensinogen ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr19:69,426,540...69,447,017
Ensembl chr19:69,421,638...69,446,944 		JBrowse link
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:23033978 PMID:23934111 PMID:24781210 PMID:24896178 PMID:25732998 More... NCBI chr  X:112,703,015...112,764,924
Ensembl chr  X:112,702,796...112,739,356 		JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:9452105 PMID:11760847 PMID:12162492 PMID:18455459 PMID:18769927 More... NCBI chr 5:155,234,770...155,289,785
Ensembl chr 5:155,234,775...155,254,167 		JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:68,107,310...68,180,192
Ensembl chr 9:68,107,528...68,179,660 		JBrowse link
G Ampd2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 2:198,395,767...198,408,514
Ensembl chr 2:198,395,768...198,408,796 		JBrowse link
G Ank1 ankyrin 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr16:75,578,824...75,757,464
Ensembl chr16:75,578,824...75,757,464 		JBrowse link
G Ankle2 ankyrin repeat and LEM domain containing 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:23806086 PMID:24088041 PMID:25259927 NCBI chr12:52,077,863...52,110,775
Ensembl chr12:52,077,480...52,108,708 		JBrowse link
G Ap4m1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24700674 PMID:25558065 PMID:25741868 PMID:32979048 NCBI chr12:22,163,474...22,171,734
Ensembl chr12:22,163,466...22,171,731 		JBrowse link
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:53,954,401...53,979,005
Ensembl chr 8:53,954,404...53,979,005 		JBrowse link
G Arfgef2 ARF guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:175,966,575...176,052,715
Ensembl chr 3:175,966,579...176,052,713 		JBrowse link
G Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 2:176,358,909...176,416,178
Ensembl chr 2:176,358,904...176,417,646 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:151,192,014...151,265,386 		JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:47,973,199...48,328,793
Ensembl chr 1:47,973,997...48,328,793 		JBrowse link
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 7:129,326,371...129,443,813
Ensembl chr 7:129,324,137...129,443,187 		JBrowse link
G Arvcf ARVCF, delta catenin family member ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:96,092,451...96,150,144
Ensembl chr11:96,092,451...96,150,163 		JBrowse link
G Aspm assembly factor for spindle microtubules treatment ISO
ISS 		ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive
OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 		ClinVar
MouseDO
RGD		 PMID:19028728 PMID:20301772 PMID:20679666 PMID:22823409 PMID:23611254 More... RGD:13439744, RGD:13439744 NCBI chr13:53,625,584...53,674,489
Ensembl chr13:53,625,584...53,674,489 		JBrowse link
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 3:162,273,828...162,341,742
Ensembl chr 3:162,273,828...162,341,742 		JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:19781682 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30287823 More... NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:62,727,291...62,828,629 		JBrowse link
G Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:45,705,157...45,721,282
Ensembl chr10:45,697,027...45,721,383 		JBrowse link
G Atr ATR serine/threonine kinase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:105,306,299...105,403,742
Ensembl chr 8:105,306,305...105,403,718 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr  X:74,916,548...75,062,880
Ensembl chr  X:74,916,548...75,062,880 		JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:156,548,911...156,581,002
Ensembl chr  X:156,548,911...156,579,371 		JBrowse link
G Bcl11b BCL11 transcription factor B ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 6:132,598,968...132,692,123
Ensembl chr 6:132,598,968...132,691,301 		JBrowse link
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:22277967 PMID:25741868 PMID:28492532 PMID:31316545 PMID:32581362 More... NCBI chr 9:83,614,045...83,618,052
Ensembl chr 9:83,613,975...83,618,257 		JBrowse link
G Blm BLM RecQ like helicase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32566746 NCBI chr 1:143,819,072...143,905,300
Ensembl chr 1:143,819,090...143,905,210 		JBrowse link
G Bptf bromodomain PHD finger transcription factor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:92,480,007...92,582,485
Ensembl chr10:92,480,007...92,582,413 		JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15475955 NCBI chr 3:126,017,019...126,069,470
Ensembl chr 3:126,017,045...126,069,796 		JBrowse link
G Camk2b calcium/calmodulin-dependent protein kinase II beta ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:29100089 PMID:30842224 PMID:31036916 More... NCBI chr14:85,059,166...85,148,121
Ensembl chr14:85,059,191...85,148,485 		JBrowse link
G Cars2 cysteinyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr16:84,649,617...84,689,254
Ensembl chr16:84,645,627...84,690,192 		JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19165920 NCBI chr  X:11,572,328...11,915,831
Ensembl chr  X:11,572,636...11,911,948 		JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:53,384,656...53,468,067 		JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr14:71,563,835...71,648,352
Ensembl chr14:71,563,835...71,648,331 		JBrowse link
G Ccdc88a coiled coil domain containing 88A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr14:107,304,654...107,456,104
Ensembl chr14:107,305,199...107,453,285 		JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr11:95,689,702...95,714,980
Ensembl chr11:95,689,919...95,714,981 		JBrowse link
G Cdc6 cell division cycle 6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr10:84,360,361...84,374,239
Ensembl chr10:84,360,381...84,374,241 		JBrowse link
G Cdk19 cyclin-dependent kinase 19 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr20:45,324,911...45,465,121
Ensembl chr20:45,324,862...45,465,121 		JBrowse link
G Cdk5rap2 CDK5 regulatory subunit associated protein 2 ISO
ISS 		DNA:mutations:splice junction:c.383+1G>C,c.4005-9A>G(human)
ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive
OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 		ClinVar
MouseDO
RGD		 PMID:18414213 PMID:20301772 PMID:25741868 PMID:28492532 PMID:32581362 More... RGD:13450906 NCBI chr 5:88,807,402...88,976,005
Ensembl chr 5:88,807,402...88,976,069 		JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:42,032,921...42,119,451
Ensembl chr 8:42,033,042...42,119,345 		JBrowse link
G Cenpf centromere protein F ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr13:103,715,344...103,760,931
Ensembl chr13:103,715,344...103,760,886 		JBrowse link
G Cep152 centrosomal protein 152 ISO ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar PMID:25741868 NCBI chr 3:133,243,979...133,332,271
Ensembl chr 3:133,263,174...133,331,655
Ensembl chr 3:133,263,174...133,331,655 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:31970223 NCBI chr 7:37,196,765...37,285,955
Ensembl chr 7:37,196,783...37,285,955 		JBrowse link
G Cep63 centrosomal protein 63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21983783 NCBI chr 8:112,041,586...112,093,061
Ensembl chr 8:112,041,594...112,084,646 		JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar NCBI chr 1:136,597,993...136,726,874
Ensembl chr 1:136,599,900...136,710,335 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 5:26,609,245...26,792,736
Ensembl chr 5:26,609,407...26,792,734 		JBrowse link
G Cit citron rho-interacting serine/threonine kinase IAGP RGD PMID:10219263 RGD:13204836 NCBI chr12:46,263,881...46,425,642
Ensembl chr12:46,266,369...46,424,656 		JBrowse link
G CitfhJjlo citron rho-interacting serine/threonine kinase; flat head mutant, Jjlo IAGP RGD PMID:10219263 RGD:13204836
G Clcn4 chloride voltage-gated channel 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:27,290,769...27,356,967
Ensembl chr  X:27,290,868...27,356,939 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr16:84,885,597...84,996,482
Ensembl chr16:84,885,597...84,996,482 		JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:12787275 PMID:22266148 PMID:25741868 PMID:28492532 PMID:28830826 More... NCBI chr 8:118,483,364...118,515,736
Ensembl chr 8:118,483,364...118,517,439 		JBrowse link
G Copb2 COPI coat complex subunit beta 2 ISS OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 MouseDO NCBI chr 8:108,040,687...108,062,810
Ensembl chr 8:108,040,693...108,064,550 		JBrowse link
G Cpap centrosome assembly and centriole elongation protein ISO ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr15:34,742,838...34,806,020
Ensembl chr15:34,742,838...34,802,421 		JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:127,893,450...127,911,347
Ensembl chr 5:127,893,207...127,910,818 		JBrowse link
G Cspp1 centrosome and spindle pole associated protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:13,860,072...13,975,299
Ensembl chr 5:13,860,072...13,975,321 		JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Progressive microcephaly ClinVar PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 More... NCBI chr20:10,245,157...10,247,199
Ensembl chr20:10,245,158...10,247,199 		JBrowse link
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26633546 PMID:27480277 More... NCBI chr19:67,447,762...67,453,169
Ensembl chr19:67,447,487...67,453,163 		JBrowse link
G Ddx11 DEAD/H-box helicase 11 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 9:113,204,886...113,309,692
Ensembl chr 9:113,276,985...113,316,152 		JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Congenital microcephaly | ClinVar Annotator: match by term: Microcephaly ClinVar PMID:9634533 PMID:9653161 PMID:10602371 PMID:10677299 PMID:10814720 More... NCBI chr 1:208,444,434...208,460,408
Ensembl chr 1:208,444,434...208,461,382 		JBrowse link
G Diaph1 diaphanous-related formin 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24781755 PMID:25558065 PMID:25741868 PMID:28492532 PMID:34515852 NCBI chr18:29,920,889...30,020,280
Ensembl chr18:29,920,889...30,020,280 		JBrowse link
G Dnm1l dynamin 1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17460227 NCBI chr11:98,084,049...98,135,663
Ensembl chr11:98,085,397...98,137,420 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:30478443 NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:32,512,070...32,614,970 		JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:28,618,523...28,670,741
Ensembl chr 8:28,618,523...28,670,648 		JBrowse link
G Donson DNA replication fork stabilization factor DONSON ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly 		CTD
ClinVar		 PMID:25741868 PMID:27040692 PMID:28191891 PMID:28331220 PMID:28492532 More... NCBI chr11:44,405,794...44,419,099
Ensembl chr11:44,405,804...44,418,791 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23603762 NCBI chr 6:135,436,375...135,502,117
Ensembl chr 6:135,430,750...135,502,116 		JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25167861 PMID:25326635 PMID:25641759 PMID:25741868 PMID:25920557 More... NCBI chr11:47,360,824...47,479,033
Ensembl chr11:47,360,850...47,479,033 		JBrowse link
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO associated with mandibulofacial dysostosis, Guion-Almeida type;DNA:mutations:cds:multiple RGD PMID:24470203 RGD:155791662 NCBI chr10:88,304,992...88,352,229
Ensembl chr10:88,304,992...88,346,299 		JBrowse link
G Eif2b1 eukaryotic translation initiation factor 2B subunit alpha ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr12:37,686,149...37,694,830
Ensembl chr12:37,686,559...37,708,078 		JBrowse link
G Elac2 elaC ribonuclease Z 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr10:50,131,449...50,154,755
Ensembl chr10:50,131,521...50,155,069 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:114,946,982...115,058,574 		JBrowse link
G Epg5 ectopic P-granules 5 autophagy tethering factor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr18:73,679,106...73,776,694
Ensembl chr18:73,679,116...73,776,677 		JBrowse link
G Epm2a EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:7,547,369...7,673,449
Ensembl chr 1:7,547,342...7,669,604 		JBrowse link
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:28767289 NCBI chr10:2,926,085...2,958,176
Ensembl chr10:2,920,455...2,955,539 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10739753 PMID:18628313 NCBI chr16:7,771,311...7,841,895
Ensembl chr16:7,771,581...7,841,895 		JBrowse link
G Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 7:86,265,651...86,544,488
Ensembl chr 7:86,259,900...86,544,567 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr18:155,237...187,186
Ensembl chr18:155,309...186,683 		JBrowse link
G Fam111a FAM111 trypsin like peptidase A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:219,065,542...219,081,213
Ensembl chr 1:219,065,601...219,081,211 		JBrowse link
G Fance FA complementation group E ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr20:6,371,153...6,388,366
Ensembl chr20:6,377,234...6,388,365 		JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:142,736,636...142,792,999
Ensembl chr 1:142,736,653...142,792,999 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:123,855,289...123,984,716
Ensembl chr 2:123,855,289...123,984,716 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:254,533,504...254,539,605
Ensembl chr 1:254,533,504...254,539,605 		JBrowse link
G Fgfrl1 fibroblast growth factor receptor-like 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr14:1,154,275...1,166,334
Ensembl chr14:1,154,275...1,166,752 		JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:30548481 NCBI chr13:90,056,565...90,082,450
Ensembl chr13:90,056,570...90,089,627 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
G Foxg1 forkhead box G1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital microcephaly 		CTD
ClinVar		 PMID:18627055 PMID:25741868 NCBI chr 6:72,401,582...72,404,392
Ensembl chr 6:72,394,239...72,427,392 		JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr14:13,095,370...13,506,895
Ensembl chr14:13,095,370...13,504,664 		JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 5:102,367,201...102,515,464
Ensembl chr 5:102,367,201...102,515,404 		JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:139,753,055...139,891,046
Ensembl chr 2:139,753,055...139,891,046 		JBrowse link
G Frmd4a FERM domain containing 4A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr17:78,577,062...79,167,924
Ensembl chr17:78,579,277...79,167,663 		JBrowse link
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:18672102 PMID:19302747 PMID:19678963 PMID:21110066 PMID:21519287 More... NCBI chr15:41,635,572...41,707,252
Ensembl chr15:41,635,572...41,681,609 		JBrowse link
G Gemin4 gem (nuclear organelle) associated protein 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25558065 PMID:25741868 PMID:27878435 NCBI chr10:61,560,172...61,571,765
Ensembl chr10:61,564,657...61,596,532 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr13:32,499,678...32,716,418
Ensembl chr13:32,499,678...32,716,418 		JBrowse link
G Gnao1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:23993195 PMID:25741868 PMID:25966631 PMID:26060304 PMID:27072799 More... NCBI chr19:11,040,788...11,198,437
Ensembl chr19:11,040,788...11,198,437 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:27108799 PMID:28492532 PMID:30194818 PMID:31735425 More... NCBI chr 5:171,357,778...171,424,489
Ensembl chr 5:171,357,797...171,424,488 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:6,136,458...6,560,003
Ensembl chr10:6,138,037...6,551,378 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:56,820,501...57,477,877
Ensembl chr 7:56,820,704...57,468,417 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:32333447 NCBI chr18:28,655,669...28,672,712
Ensembl chr18:28,655,671...28,672,712 		JBrowse link
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 9:99,950,972...100,200,994
Ensembl chr 9:99,955,116...100,197,637 		JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:2323782 PMID:15571220 PMID:17027311 PMID:22157001 PMID:23975452 More... NCBI chr  X:137,655,744...137,687,718
Ensembl chr  X:137,655,680...137,687,712 		JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:154,960,818...155,061,971
Ensembl chr 5:154,960,846...155,061,971 		JBrowse link
G Iba57 iron-sulfur cluster assembly factor IBA57 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:44,441,579...44,450,368
Ensembl chr10:44,441,579...44,450,368 		JBrowse link
G Ift122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:150,577,525...150,648,052
Ensembl chr 4:150,539,786...150,648,052 		JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr10:14,537,134...14,624,926
Ensembl chr10:14,537,466...14,624,926 		JBrowse link
G Ift74 intraflagellar transport 74 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:114,576,106...114,679,581
Ensembl chr 5:114,593,397...114,679,581 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO DNA:nonsense mutation,haploinsufficiency :cds: RGD PMID:20668042 RGD:8548823 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:24,130,137...24,246,764 		JBrowse link
G Ino80 INO80 complex ATPase subunit ISO ClinVar Annotator: match by term: Congenital microcephaly ClinVar PMID:25558065 PMID:25741868 NCBI chr 3:126,822,280...126,919,532
Ensembl chr 3:126,822,280...126,919,532 		JBrowse link
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr  X:24,734,202...24,816,566
Ensembl chr  X:24,734,246...24,816,566 		JBrowse link
G Itgb6 integrin subunit beta 6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 3:65,454,964...65,579,179
Ensembl chr 3:65,456,713...65,530,333 		JBrowse link
G Jarid2 jumonji and AT-rich interaction domain containing 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr17:19,983,217...20,163,598
Ensembl chr17:19,983,217...20,161,970 		JBrowse link
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:244,494,916...244,589,250
Ensembl chr 1:244,494,875...244,589,250 		JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr10:55,913,010...55,942,220
Ensembl chr10:55,913,093...55,942,220 		JBrowse link
G Kif20b kinesin family member 20B ISS OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 MouseDO NCBI chr 1:241,840,898...241,896,451
Ensembl chr 1:241,840,987...241,896,451 		JBrowse link
G Kif23 kinesin family member 23 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:26539891 NCBI chr 8:71,293,439...71,321,911
Ensembl chr 8:71,293,482...71,320,856 		JBrowse link
G Kif2a kinesin family member 2A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly 		CTD
ClinVar		 PMID:23603762 PMID:25741868 PMID:28492532 NCBI chr 2:40,101,548...40,164,780
Ensembl chr 2:40,101,548...40,186,618 		JBrowse link
G Kif5c kinesin family member 5C ISO CTD Direct Evidence: marker/mechanism CTD PMID:23603762 NCBI chr 3:54,441,266...54,591,630
Ensembl chr 3:54,441,310...54,594,813 		JBrowse link
G Kifbp kinesin family binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:15883926 NCBI chr20:31,055,625...31,075,232
Ensembl chr20:31,055,626...31,075,201 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:54,013,547...54,089,219
Ensembl chr 8:54,013,547...54,089,317 		JBrowse link
G Kmt2c lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:39013459 NCBI chr 4:10,353,698...10,755,965
Ensembl chr 4:10,353,735...10,568,620 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:21671394 PMID:22126750 PMID:25741868 PMID:28492532 PMID:30107592 NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:131,859,696...131,900,072 		JBrowse link
G Knl1 kinetochore scaffold 1 ISO ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 3:126,483,498...126,545,774
Ensembl chr 3:126,483,544...126,545,774 		JBrowse link
G Lars1 leucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr18:34,452,567...34,507,030
Ensembl chr18:34,452,561...34,506,938 		JBrowse link
G Lins1 lines homolog 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:129,677,815...129,705,399
Ensembl chr 1:129,692,225...129,703,826 		JBrowse link
G Lmnb1 lamin B1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr18:52,373,939...52,413,284
Ensembl chr18:52,373,757...52,413,283 		JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:210,243,499...210,346,886
Ensembl chr 1:210,243,502...210,346,822 		JBrowse link
G Masp1 MBL associated serine protease 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:90,839,081...90,909,922
Ensembl chr11:90,839,061...90,917,470 		JBrowse link
G Mbd5 methyl-CpG binding domain protein 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:53,742,458...54,147,970
Ensembl chr 3:54,075,084...54,139,389 		JBrowse link
G Mcm4 minichromosome maintenance complex component 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr11:98,762,599...98,776,300
Ensembl chr11:98,762,634...98,776,536 		JBrowse link
G Mcph1 microcephalin 1 no_association ISO
ISS 		DNA:nonsense mutation:cds:p.S25X (human)
ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive
OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703
DNA:SNP: :c.940G>C (g.37995G>C) (human) 		ClinVar
MouseDO
RGD		 PMID:25741868 PMID:12046007 PMID:23683352 PMID:19267414 RGD:9589021, RGD:13204745, RGD:13204744 NCBI chr16:77,724,251...77,926,773
Ensembl chr16:77,724,251...77,926,462 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:11007980 PMID:11071498 PMID:11309367 PMID:11772708 PMID:11805248 More... NCBI chr  X:156,932,481...156,995,981
Ensembl chr  X:156,941,234...156,943,560 		JBrowse link
G Med17 mediator complex subunit 17 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:20,382,995...20,401,993
Ensembl chr 8:20,382,995...20,401,993 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17215403 More... NCBI chr 5:163,587,463...163,617,363
Ensembl chr 5:163,587,463...163,618,495 		JBrowse link
G Mfsd2a MFSD2 lysolipid transporter A, lysophospholipid ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly 		CTD
ClinVar		 PMID:25741868 PMID:26005865 PMID:26005868 NCBI chr 5:140,510,933...140,525,828
Ensembl chr 5:140,510,953...140,525,916 		JBrowse link
G Mipep mitochondrial intermediate peptidase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr15:39,102,301...39,227,915
Ensembl chr15:39,102,115...39,227,914 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24608809 PMID:25741868 PMID:28492532 PMID:30076350 PMID:33584783 NCBI chr10:73,152,599...73,167,451
Ensembl chr10:73,153,186...73,163,886 		JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:74,848,936...74,866,987
Ensembl chr 8:74,848,729...74,867,039 		JBrowse link
G Nacc1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr19:40,373,436...40,391,351
Ensembl chr19:40,373,449...40,391,347 		JBrowse link
G Nat8l N-acetyltransferase 8-like ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr14:80,980,629...80,987,264
Ensembl chr14:80,980,629...80,987,463 		JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 More... NCBI chr 5:34,256,678...34,291,163
Ensembl chr 5:34,256,627...34,291,162 		JBrowse link
G Nepro nucleolus and neural progenitor protein ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:69,464,263...69,476,429
Ensembl chr11:69,464,265...69,509,978 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:30308447 NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,804,266...65,034,946 		JBrowse link
G Npas4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:211,710,640...211,728,038
Ensembl chr 1:211,711,338...211,716,102 		JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO associated with Growth Disorders;DNA:duplications:multiple (human)
ClinVar Annotator: match by term: Microcephaly 		ClinVar
RGD		 PMID:25741868 PMID:23599694 RGD:9590157 NCBI chr17:9,317,085...9,431,528
Ensembl chr17:9,317,085...9,452,250 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr14:81,057,727...81,135,866
Ensembl chr14:81,057,727...81,123,027 		JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:255,712,797...255,838,285
Ensembl chr 1:255,713,909...255,838,403 		JBrowse link
G Nup188 nucleoporin 188 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:32275884 NCBI chr 3:33,957,778...34,014,122
Ensembl chr 3:33,957,791...34,014,122 		JBrowse link
G Nup214 nucleoporin 214 ISO ClinVar Annotator: match by term: Progressive microcephaly ClinVar PMID:25741868 PMID:31178128 NCBI chr 3:35,652,841...35,738,323
Ensembl chr 3:35,652,858...35,739,192 		JBrowse link
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar PMID:24824130 PMID:25741868 NCBI chr20:32,354,519...32,381,265
Ensembl chr20:32,354,439...32,381,264 		JBrowse link
G Orc1 origin recognition complex, subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358633 NCBI chr 5:128,552,975...128,581,943
Ensembl chr 5:128,552,991...128,577,071 		JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:19965921 PMID:25741868 PMID:28492532 NCBI chr15:24,422,876...24,432,709
Ensembl chr15:24,422,876...24,432,472 		JBrowse link
G Pak3 p21 (RAC1) activated kinase 3 ISO ClinVar Annotator: match by term: Microcephaly ClinVar NCBI chr  X:111,912,967...112,171,037
Ensembl chr  X:111,913,059...112,165,035 		JBrowse link
G Pclo piccolo (presynaptic cytomatrix protein) ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:20,646,604...21,005,171
Ensembl chr 4:20,646,604...21,005,111 		JBrowse link
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr20:12,189,767...12,278,179
Ensembl chr20:12,192,353...12,278,178 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr18:56,770,348...56,809,228
Ensembl chr18:56,770,348...56,809,233 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar NCBI chr  X:156,681,717...156,712,031
Ensembl chr  X:156,681,717...156,713,028 		JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:98,800,357...98,808,091
Ensembl chr 3:98,798,654...98,808,630 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:32901917 PMID:33584783 PMID:35346031 NCBI chr 4:158,956,973...158,983,581
Ensembl chr 4:158,956,974...158,982,733 		JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:92,779,449...92,792,610
Ensembl chr 1:92,779,449...92,792,610 		JBrowse link
G Plk4 polo-like kinase 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly 		CTD
ClinVar		 PMID:25344692 PMID:25741868 NCBI chr 2:125,730,480...125,748,894
Ensembl chr 2:125,730,460...125,748,892 		JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20118933 NCBI chr 1:104,476,801...104,483,409
Ensembl chr 1:104,478,088...104,483,408 		JBrowse link
G Poc1a POC1 centriolar protein A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:115,801,335...115,869,812
Ensembl chr 8:115,801,396...115,870,392 		JBrowse link
G Ppil1 peptidylprolyl isomerase like 1 ISS MouseDO NCBI chr20:7,303,919...7,323,962
Ensembl chr20:7,303,922...7,318,781 		JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14634649 PMID:15024694 PMID:16740914 NCBI chr  X:17,275,445...17,280,018
Ensembl chr  X:17,275,759...17,280,016 		JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:170,162,275...170,486,371
Ensembl chr 5:170,162,275...170,485,804 		JBrowse link
G Prkdc protein kinase, DNA-activated, catalytic subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:98,544,952...98,762,499
Ensembl chr11:98,544,954...98,762,108 		JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:32077105 PMID:34089226 NCBI chr 1:222,623,553...222,646,187
Ensembl chr 1:222,623,556...222,655,693 		JBrowse link
G Ptdss1 phosphatidylserine synthase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 7:65,730,250...65,792,024
Ensembl chr 7:65,729,629...65,794,359 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:11704759 PMID:11992261 PMID:12717436 PMID:14644997 PMID:15928039 More... NCBI chr12:41,026,079...41,085,577
Ensembl chr12:41,043,785...41,085,577 		JBrowse link
G Pycr1 pyrroline-5-carboxylate reductase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:21739576 PMID:24913064 PMID:25741868 PMID:28492532 NCBI chr10:106,416,056...106,420,982
Ensembl chr10:106,412,576...106,423,393 		JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr13:95,158,236...95,162,030
Ensembl chr13:95,158,183...95,162,029 		JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:118,086,243...118,094,274
Ensembl chr 8:118,086,228...118,094,274 		JBrowse link
G Rab11a RAB11a, member RAS oncogene family ISO ClinVar Annotator: match by term: Congenital microcephaly ClinVar PMID:25741868 NCBI chr 8:74,118,922...74,141,760
Ensembl chr 8:74,118,922...74,141,837 		JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr13:99,288,984...99,362,817
Ensembl chr13:99,288,647...99,361,053 		JBrowse link
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:32566746 PMID:33309985 PMID:37253112 NCBI chr10:72,702,299...72,728,980
Ensembl chr10:72,702,299...72,729,143 		JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 3:108,372,087...108,383,184
Ensembl chr 3:108,371,978...108,383,261 		JBrowse link
G Rbbp8 RB binding protein 8, endonuclease ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr18:3,198,188...3,263,643
Ensembl chr18:3,197,310...3,263,985 		JBrowse link
G Rbm28 RNA binding motif protein 28 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 4:58,688,337...58,727,312
Ensembl chr 4:58,688,337...58,726,968 		JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:30217742 PMID:32164334 NCBI chr 4:152,998,344...153,040,556
Ensembl chr 4:152,998,812...153,040,556 		JBrowse link
G Rfx7 regulatory factor X, 7 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:82,134,747...82,219,898
Ensembl chr 8:82,134,747...82,219,898 		JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr15:27,282,997...27,341,021
Ensembl chr15:27,282,998...27,341,021 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr19:31,865,050...31,957,930
Ensembl chr19:31,865,231...31,957,930 		JBrowse link
G Rreb1 ras responsive element binding protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr17:27,082,217...27,208,061
Ensembl chr17:27,082,227...27,208,061 		JBrowse link
G Rttn rotatin ISO ClinVar Annotator: match by term: Congenital microcephaly | ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:26608784 PMID:26846091 PMID:28492532 NCBI chr18:84,495,813...84,673,079
Ensembl chr18:84,482,601...84,700,463 		JBrowse link
G Sall1 spalt-like transcription factor 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr19:34,179,316...34,196,278
Ensembl chr19:34,181,078...34,196,278 		JBrowse link
G Samd9l sterile alpha motif domain containing 9 like ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:32,316,748...32,331,112
Ensembl chr 4:32,222,623...32,331,067 		JBrowse link
G Sbds Sbds, ribosome maturation factor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More... NCBI chr12:32,056,649...32,065,816
Ensembl chr12:32,056,518...32,065,813 		JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:23749797 PMID:25741868 PMID:28492532 NCBI chr 7:122,237,968...122,264,591
Ensembl chr 7:122,237,968...122,264,531 		JBrowse link
G Scarf2 scavenger receptor class F, member 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:96,680,237...96,691,686
Ensembl chr11:96,680,243...96,691,626 		JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr10:91,745,459...91,796,452
Ensembl chr10:91,746,715...91,796,324 		JBrowse link
G Scrib scribble planar cell polarity protein ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 7:109,640,034...109,663,354
Ensembl chr 7:109,640,034...109,663,022 		JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:59,841,090...59,850,641
Ensembl chr 8:59,841,090...59,850,641 		JBrowse link
G Sec24c SEC24 homolog C, COPII coat complex component ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr15:3,651,714...3,674,420
Ensembl chr15:3,651,714...3,673,675 		JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:147,772,955...147,850,669
Ensembl chr 4:147,773,028...147,850,667 		JBrowse link
G Sim1 SIM bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr20:55,409,814...55,489,450
Ensembl chr20:55,410,577...55,489,449 		JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27399968 NCBI chr 8:66,377,471...66,432,150
Ensembl chr 8:66,381,657...66,434,542 		JBrowse link
G Slc12a5 solute carrier family 12 member 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:174,115,833...174,155,112
Ensembl chr 3:174,115,833...174,155,112 		JBrowse link
G Slc13a5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr10:57,364,806...57,389,500
Ensembl chr10:57,364,806...57,389,516 		JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr14:98,718,646...98,761,672
Ensembl chr14:98,730,450...98,761,790 		JBrowse link
G Slc25a19 solute carrier family 25 member 19 ISO Microcephaly, Amish type, OMIM:607196;DNA:point mutation:exon:G177A RGD PMID:12185364 RGD:1624242 NCBI chr10:101,353,426...101,366,551
Ensembl chr10:101,350,106...101,366,351 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly 		CTD
ClinVar		 PMID:9462754 PMID:10980529 PMID:20129935 PMID:21832227 PMID:25326635 More... NCBI chr 5:138,002,522...138,030,742
Ensembl chr 5:138,002,522...138,030,742 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr10:12,032,131...12,055,685
Ensembl chr10:12,033,048...12,055,650 		JBrowse link
G Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:233,617,277...233,784,908
Ensembl chr 1:233,617,366...233,784,869 		JBrowse link
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:28,438,370...28,535,071
Ensembl chr 8:28,443,810...28,535,070 		JBrowse link
G Smarcal1 SNF2 related chromatin remodeling annealing helicase 1 ISO ClinVar Annotator: match by term: Congenital microcephaly ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chr 9:81,689,446...81,735,406
Ensembl chr 9:81,689,531...81,735,396 		JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:17273969 PMID:19701948 PMID:24124034 PMID:25125236 PMID:25741868 More... NCBI chr  X:24,582,732...24,627,462
Ensembl chr  X:24,582,690...24,627,462 		JBrowse link
G Smo smoothened, frizzled class receptor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 4:59,311,084...59,341,280
Ensembl chr 4:59,311,041...59,341,281 		JBrowse link
G Spock1 sparc/osteonectin, cwcv and kazal like domains proteoglycan 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr17:6,746,892...7,227,034
Ensembl chr17:6,747,646...7,230,282 		JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:33,639,020...33,703,890
Ensembl chr 3:33,607,210...33,703,889 		JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr17:12,029,189...12,068,234
Ensembl chr17:12,029,189...12,068,234 		JBrowse link
G Srcap Snf2-related CREBBP activator protein ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:191,554,043...191,607,096
Ensembl chr 1:191,554,043...191,604,265 		JBrowse link
G Stambp Stam binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23542699 NCBI chr 4:117,613,730...117,642,163
Ensembl chr 4:117,613,740...117,638,220 		JBrowse link
G Stil STIL, centriolar assembly protein ISO ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar NCBI chr 5:133,757,598...133,810,493
Ensembl chr 5:133,760,417...133,810,494 		JBrowse link
G Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:44,632,473...44,671,960
Ensembl chr 8:44,632,473...44,672,226 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 3:36,474,428...36,536,120
Ensembl chr 3:36,474,428...36,536,058 		JBrowse link
G Svbp small vasohibin binding protein ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:30607023 PMID:31363758 NCBI chr 5:138,091,773...138,099,048
Ensembl chr 5:138,093,456...138,099,068 		JBrowse link
G Taf2 TATA-box binding protein associated factor 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 7:88,312,374...88,369,399
Ensembl chr 7:88,312,374...88,369,377 		JBrowse link
G Taf8 TATA-box binding protein associated factor 8 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:29648665 PMID:35759269 NCBI chr 9:20,989,554...21,009,541
Ensembl chr 9:20,989,465...21,009,983 		JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr20:35,902,281...36,133,161
Ensembl chr20:35,902,700...36,133,057 		JBrowse link
G Tbcd tubulin folding cofactor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:27666370 PMID:27666374 NCBI chr10:107,215,626...107,372,398
Ensembl chr10:107,215,633...107,372,402 		JBrowse link
G Tbl2 transducin (beta)-like 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr12:27,154,150...27,168,446
Ensembl chr12:27,154,150...27,168,446 		JBrowse link
G Tbx2 T-box transcription factor 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:71,177,082...71,186,275
Ensembl chr10:71,177,082...71,186,275 		JBrowse link
G Tcf4 transcription factor 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly 		CTD
ClinVar		 PMID:18728071 PMID:21671391 PMID:22045651 PMID:22460224 PMID:25741868 More... NCBI chr18:65,216,840...65,563,186
Ensembl chr18:65,216,849...65,558,401 		JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr18:56,537,437...56,570,727
Ensembl chr18:56,537,437...56,570,727 		JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr12:37,643,711...37,668,035
Ensembl chr12:37,643,715...37,668,035 		JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 6:135,720,765...135,823,187
Ensembl chr 6:135,720,656...135,823,187 		JBrowse link
G Telo2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:14,624,998...14,640,235
Ensembl chr10:14,624,998...14,640,211 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:30426156 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:31,466,056...31,488,111 		JBrowse link
G Tfap2c transcription factor AP-2 gamma ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 3:181,733,524...181,742,412
Ensembl chr 3:181,733,419...181,741,404 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:30,333,793...30,386,666 		JBrowse link
G Traip TRAF-interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26595769 NCBI chr 8:117,520,476...117,540,253
Ensembl chr 8:117,520,441...117,540,253 		JBrowse link
G Trio trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:32581362 NCBI chr 2:80,235,485...80,531,824
Ensembl chr 2:80,235,485...80,531,612 		JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 7:83,806,121...84,032,609
Ensembl chr 7:83,811,497...84,031,786 		JBrowse link
G Tsen2 tRNA splicing endonuclease subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711368 NCBI chr 4:150,275,389...150,310,846
Ensembl chr 4:150,275,501...150,313,013 		JBrowse link
G Tsen34 tRNA splicing endonuclease subunit 34 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711368 NCBI chr 1:74,432,687...74,440,553
Ensembl chr 1:74,432,685...74,440,832 		JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly 		CTD
ClinVar		 PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chr10:101,540,479...101,549,022
Ensembl chr10:101,540,329...101,549,363 		JBrowse link
G Tti2 TELO2 interacting protein 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr16:67,683,721...67,692,881
Ensembl chr16:67,671,390...67,691,588 		JBrowse link
G Tuba1a tubulin, alpha 1A ISO associated with Lissencephaly;DNA:missense mutations:cds: RGD PMID:18728072 RGD:11069114 NCBI chr 7:131,992,151...131,996,850
Ensembl chr 7:131,968,770...131,996,035 		JBrowse link
G Tuba8 tubulin, alpha 8 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:31481326 NCBI chr 4:156,110,562...156,129,065
Ensembl chr 4:156,111,964...156,141,436 		JBrowse link
G Tubb4a tubulin, beta 4A class IVa ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25085639 PMID:25326637 PMID:25741868 PMID:28492532 PMID:28973395 More... NCBI chr 9:2,004,836...2,012,281
Ensembl chr 9:2,004,840...2,012,286 		JBrowse link
G Tubb5 tubulin, beta 5 class I ISS OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 MouseDO NCBI chr20:2,917,577...2,921,726
Ensembl chr20:2,917,539...2,921,726 		JBrowse link
G Tubg1 tubulin, gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23603762 NCBI chr10:86,553,143...86,559,733
Ensembl chr10:86,552,499...86,559,730 		JBrowse link
G Tubgcp5 tubulin gamma complex component 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:115,772,294...115,807,947
Ensembl chr 1:115,772,384...115,808,438 		JBrowse link
G Tubgcp6 tubulin gamma complex component 6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:122,057,328...122,078,639
Ensembl chr 7:122,057,328...122,078,490 		JBrowse link
G Ubr1 ubiquitin protein ligase E3 component n-recognin 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:128,265,160...128,377,830
Ensembl chr 3:128,265,115...128,375,671 		JBrowse link
G Unc80 unc-80 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 9:75,461,618...75,639,849
Ensembl chr 9:75,461,599...75,639,842 		JBrowse link
G Vars1 valyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:30275004 NCBI chr20:3,810,427...3,825,193
Ensembl chr20:3,810,429...3,824,951 		JBrowse link
G Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:234,239,769...234,272,150
Ensembl chr 1:234,240,121...234,272,154 		JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:25741868 PMID:28492532 More... NCBI chr 7:68,436,996...69,013,574
Ensembl chr 7:68,443,655...69,013,574 		JBrowse link
G Vps33b VPS33B, late endosome and lysosome associated ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:143,633,167...143,656,228
Ensembl chr 1:143,633,197...143,659,552 		JBrowse link
G Vps53 VPS53 subunit of GARP complex ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr10:61,418,076...61,536,912
Ensembl chr10:61,418,076...61,531,760 		JBrowse link
G Wdfy3 WD repeat and FYVE domain containing 3 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr14:7,873,946...8,115,002
Ensembl chr14:7,911,151...8,114,993 		JBrowse link
G Wdr11 WD repeat domain 11 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:34413497 NCBI chr 1:193,595,606...193,641,149
Ensembl chr 1:193,595,535...193,641,142 		JBrowse link
G Wdr62 WD repeat domain 62 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive 		CTD
ClinVar
RGD		 PMID:20890278 PMID:20890279 PMID:24875059 RGD:11541053 NCBI chr 1:94,618,992...94,658,097
Ensembl chr 1:94,618,992...94,658,223 		JBrowse link
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:32581362 NCBI chr10:60,780,268...60,793,671
Ensembl chr10:60,780,268...60,793,592 		JBrowse link
G Xirp1 xin actin-binding repeat containing 1 ISO ClinVar Annotator: match by term: Classical primary microcephaly ClinVar PMID:25558065 PMID:25741868 NCBI chr 8:128,625,111...128,635,011
Ensembl chr 8:128,611,641...128,653,565 		JBrowse link
G Yme1l1 YME1-like 1 ATPase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr17:90,195,485...90,235,675
Ensembl chr17:90,195,584...90,356,331 		JBrowse link
G Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:31926053 PMID:33590706 PMID:34580403 More... NCBI chr12:26,381,106...26,409,466
Ensembl chr12:26,380,816...26,409,465 		JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:26056227 NCBI chr  X:64,525,725...64,556,037
Ensembl chr  X:64,535,241...64,556,042 		JBrowse link
G Zfp668 zinc finger protein 668 ISO ClinVar Annotator: match by term: Progressive microcephaly ClinVar PMID:26633546 PMID:34313816 NCBI chr 1:191,905,112...191,915,436
Ensembl chr 1:191,905,112...191,914,997 		JBrowse link
Microcephaly and Chorioretinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubgcp6 tubulin gamma complex component 6 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy with or without intellectual disability ClinVar PMID:25344692 PMID:25741868 PMID:28492532 NCBI chr 7:122,057,328...122,078,639
Ensembl chr 7:122,057,328...122,078,490 		JBrowse link
microcephaly and chorioretinopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 1 ClinVar PMID:25741868 NCBI chr 1:244,494,916...244,589,250
Ensembl chr 1:244,494,875...244,589,250 		JBrowse link
G Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 1 ClinVar PMID:25741868 PMID:28492532 PMID:28805828 PMID:36063408 NCBI chr15:26,610,694...26,618,113
Ensembl chr15:26,610,698...26,618,113 		JBrowse link
G Plk4 polo-like kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:125,730,480...125,748,894
Ensembl chr 2:125,730,460...125,748,892 		JBrowse link
G Tubgcp4 tubulin gamma complex component 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:128,594,052...128,628,789
Ensembl chr 3:128,595,380...128,625,953 		JBrowse link
G Tubgcp6 tubulin gamma complex component 6 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 1 | ClinVar Annotator: match by term: TUBGCP6-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:5936364 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22279524 More... NCBI chr 7:122,057,328...122,078,639
Ensembl chr 7:122,057,328...122,078,490 		JBrowse link
microcephaly and chorioretinopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plk4 polo-like kinase 4 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 2 | ClinVar Annotator: match by term: PLK4-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25320347 PMID:25344692 PMID:25741868 More... NCBI chr 2:125,730,480...125,748,894
Ensembl chr 2:125,730,460...125,748,892 		JBrowse link
microcephaly and chorioretinopathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubgcp4 tubulin gamma complex component 4 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 3 | ClinVar Annotator: match by term: TUBGCP4-related condition OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:25817018 PMID:28492532 NCBI chr 3:128,594,052...128,628,789
Ensembl chr 3:128,595,380...128,625,953 		JBrowse link
Microcephaly with Mental Retardation and Digital Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbbp8 RB binding protein 8, endonuclease ISO ClinVar Annotator: match by term: Jawad syndrome | ClinVar Annotator: match by term: RBBP8-related disorder
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:18071751 PMID:18414213 PMID:21998596 More... NCBI chr18:3,198,188...3,263,643
Ensembl chr18:3,197,310...3,263,985 		JBrowse link
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: KIF11-related condition | ClinVar Annotator: match by term: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Microcephaly lymphedema chorioretinal dysplasia | ClinVar Annotator: match by term: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation OMIM
ClinVar		 PMID:9536098 PMID:15930898 PMID:16199547 PMID:17576681 PMID:22284827 More... NCBI chr 1:244,494,916...244,589,250
Ensembl chr 1:244,494,875...244,589,250 		JBrowse link
Microcephaly with Simplified Gyral Pattern term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh4 cadherin 4 ISO ClinVar Annotator: match by term: Simplified gyral pattern ClinVar PMID:29706646 NCBI chr 3:186,902,763...187,381,020
Ensembl chr 3:186,902,751...187,381,020 		JBrowse link
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcna4 potassium voltage-gated channel subfamily A member 4 ISO ClinVar Annotator: match by term: Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum OMIM
ClinVar		 PMID:23181898 PMID:25741868 PMID:27582084 NCBI chr 3:114,211,091...114,218,545
Ensembl chr 3:114,210,998...114,344,932 		JBrowse link
Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msmo1 methylsterol monooxygenase 1 ISO ClinVar Annotator: match by term: MSMO1-related condition | ClinVar Annotator: match by term: Microcephaly, congenital cataract, and psoriasiform dermatitis OMIM
ClinVar		 PMID:21285510 PMID:24144731 PMID:25741868 PMID:28492532 NCBI chr16:29,747,113...29,764,360
Ensembl chr16:29,747,137...29,764,445 		JBrowse link
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cars1 cysteinyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly, developmental delay, and brittle hair syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30824121 NCBI chr 1:208,183,092...208,225,425
Ensembl chr 1:208,182,788...208,225,407 		JBrowse link
Microcephaly, Epilepsy, and Diabetes Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ier3ip1-ps1 immediate early response 3 interacting protein 1, pseudogene 1 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:9536098 PMID:16972080 PMID:17576681 PMID:21835305 PMID:22991235 More... NCBI chr 4:133,898,662...133,899,156
Ensembl chr 4:133,887,903...133,898,847 		JBrowse link
Microcephaly, Epilepsy, and Diabetes Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ier3ip1-ps1 immediate early response 3 interacting protein 1, pseudogene 1 ISO ClinVar Annotator: match by term: IER3IP1-related condition | ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome 1 OMIM
ClinVar		 PMID:16972080 PMID:21835305 PMID:22991235 PMID:23771172 PMID:24138066 More... NCBI chr 4:133,898,662...133,899,156
Ensembl chr 4:133,887,903...133,898,847 		JBrowse link
Microcephaly, Epilepsy, and Diabetes Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Yipf5 Yip1 domain family, member 5 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:33164986 NCBI chr18:32,374,913...32,388,046
Ensembl chr18:32,374,916...32,408,738 		JBrowse link
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: CTU2-related condition | ClinVar Annotator: match by term: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25081361 PMID:25741868 PMID:26633546 More... NCBI chr19:67,447,762...67,453,169
Ensembl chr19:67,447,487...67,453,163 		JBrowse link
microcephaly, growth deficiency, seizures, and brain malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Microcephaly, growth deficiency, seizures, and brain malformations | ClinVar Annotator: match by term: WDR4-related condition OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:26416026 PMID:28492532 PMID:29597095 More... NCBI chr20:9,588,532...9,604,718
Ensembl chr20:9,588,532...9,605,007 		JBrowse link
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Top3a DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Microcephaly, growth restriction, and increased sister chromatid exchange 2 | ClinVar Annotator: match by term: TOP3A-related condition OMIM
ClinVar		 PMID:25741868 PMID:26689913 PMID:28492532 PMID:30057030 PMID:37013609 NCBI chr10:45,915,625...45,956,856
Ensembl chr10:45,915,625...45,956,856 		JBrowse link
microcephaly, seizures, and developmental delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nusap1 nucleolar and spindle associated protein 1 ISO ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay ClinVar PMID:25741868 NCBI chr 3:127,057,220...127,092,779
Ensembl chr 3:127,057,265...127,087,237 		JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay OMIM
ClinVar		 PMID:9536098 PMID:10446192 PMID:11112660 PMID:11704758 PMID:15136689 More... NCBI chr 1:104,476,801...104,483,409
Ensembl chr 1:104,478,088...104,483,408 		JBrowse link
Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trmt10a tRNA methyltransferase 10A ISO ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 1 | ClinVar Annotator: match by term: TRMT10A-related condition OMIM
ClinVar		 PMID:24204302 PMID:25053765 PMID:25741868 PMID:26535115 PMID:28492532 More... NCBI chr 2:229,342,853...229,357,573
Ensembl chr 2:229,342,864...229,360,108 		JBrowse link
Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp1r15b protein phosphatase 1, regulatory subunit 15B ISO ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 2 | ClinVar Annotator: match by term: PPP1R15B-related condition OMIM
ClinVar		 PMID:25741868 PMID:26159176 PMID:26307080 PMID:28492532 NCBI chr13:47,130,000...47,137,805
Ensembl chr13:47,129,967...47,137,798 		JBrowse link
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rttn rotatin ISO ClinVar Annotator: match by term: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES | ClinVar Annotator: match by term: Microcephaly, short stature, and polymicrogyria with or without seizures | ClinVar Annotator: match by term: RTTN-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22939636 More... NCBI chr18:84,495,813...84,673,079
Ensembl chr18:84,482,601...84,700,463 		JBrowse link
Microcephaly-Capillary Malformation Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stambp Stam binding protein ISO ClinVar Annotator: match by term: Microcephaly-capillary malformation syndrome | ClinVar Annotator: match by term: STAMBP-related condition OMIM
ClinVar		 PMID:18414213 PMID:21271646 PMID:21815250 PMID:23542699 PMID:25326635 More... NCBI chr 4:117,613,730...117,642,163
Ensembl chr 4:117,613,740...117,638,220 		JBrowse link
microcephaly-micromelia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Donson DNA replication fork stabilization factor DONSON ISO ClinVar Annotator: match by term: Microcephaly-micromelia syndrome OMIM
ClinVar		 PMID:25741868 PMID:27040692 PMID:28191891 PMID:28331220 PMID:28492532 More... NCBI chr11:44,405,794...44,419,099
Ensembl chr11:44,405,804...44,418,791 		JBrowse link
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 ISO ClinVar Annotator: match by term: ADAMTS18-related condition | ClinVar Annotator: match by term: Microcornea, myopic chorioretinal atrophy, and telecanthus OMIM
ClinVar		 PMID:22686506 PMID:23818446 PMID:24874986 PMID:25741868 PMID:28492532 More... NCBI chr19:58,596,095...58,749,239
Ensembl chr19:58,597,761...58,749,138 		JBrowse link
Micrognathism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:22608503 PMID:22610116 PMID:23307537 PMID:25741868 PMID:25790160 More... NCBI chr 4:177,262,848...177,386,837
Ensembl chr 4:177,262,848...177,386,348 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 NCBI chr 8:12,473,955...12,697,075
Ensembl chr 8:12,473,955...12,697,058 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:15786477 PMID:19668216 PMID:25741868 PMID:26748598 PMID:27401686 More... NCBI chr 3:29,614,868...29,627,542
Ensembl chr 3:29,614,868...29,627,542 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:11007980 PMID:11071498 PMID:11309367 PMID:11772708 PMID:11805248 More... NCBI chr  X:156,932,481...156,995,981
Ensembl chr  X:156,941,234...156,943,560 		JBrowse link
G Nog noggin ISO DNA:SNP:rs1348322(human) RGD PMID:20645637 RGD:12801465 NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,625,875...74,628,103 		JBrowse link
G Pgap2 post-GPI attachment to proteins 2 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 NCBI chr 1:166,003,593...166,030,088
Ensembl chr 1:166,003,523...166,030,088 		JBrowse link
G Pitx1 paired-like homeodomain 1 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 NCBI chr17:8,794,051...8,805,477
Ensembl chr17:8,799,319...8,805,476 		JBrowse link
G Pold1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 NCBI chr 1:104,161,984...104,178,074
Ensembl chr 1:104,162,016...104,172,982 		JBrowse link
Microhydranencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nde1 nudE neurodevelopment protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HYDRANENCEPHALY AND MICROCEPHALY | ClinVar Annotator: match by term: Hydranencephaly and microcephaly 		OMIM
CTD
ClinVar		 PMID:10762554 PMID:18414213 PMID:22526350 PMID:25326635 PMID:25332407 More... NCBI chr10:1,347,010...1,391,167
Ensembl chr10:1,347,018...1,383,447 		JBrowse link
Microtia, Hearing Impairment, and Cleft Palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa2 homeobox A2 ISO ClinVar Annotator: match by term: Bilateral microtia-deafness-cleft palate syndrome | ClinVar Annotator: match by term: HOXA2-related disorder | ClinVar Annotator: match by term: Microtia with or without hearing impairment
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:18394579 PMID:23775976 PMID:24239177 PMID:25691070 PMID:25741868 NCBI chr 4:82,593,389...82,597,589
Ensembl chr 4:82,593,389...82,595,692 		JBrowse link
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ammecr1 AMMECR nuclear protein 1 ISO ClinVar Annotator: match by term: AMMECR1-related condition | ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis OMIM
ClinVar		 PMID:25741868 PMID:27811305 PMID:28089922 PMID:28492532 PMID:29174631 More... NCBI chr  X:111,262,792...111,368,099
Ensembl chr  X:111,262,792...111,368,099 		JBrowse link
mosaic variegated aneuploidy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome | ClinVar Annotator: match by term: Warburton-Anyane-Yeboa syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD		 PMID:15475955 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 3:126,017,019...126,069,470
Ensembl chr 3:126,017,045...126,069,796 		JBrowse link
G Cep57 centrosomal protein 57 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD		 PMID:21552266 PMID:28553959 NCBI chr 8:18,951,179...18,971,205
Ensembl chr 8:18,932,808...18,970,890 		JBrowse link
G Trip13 thyroid hormone receptor interactor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553959 NCBI chr 1:31,185,700...31,230,638
Ensembl chr 1:31,185,594...31,230,634 		JBrowse link
mosaic variegated aneuploidy syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO
ISS 		ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1
OMIM:257300 		OMIM
ClinVar
MouseDO		 PMID:9521327 PMID:9536098 PMID:9916837 PMID:11169558 PMID:15475955 More... NCBI chr 3:126,017,019...126,069,470
Ensembl chr 3:126,017,045...126,069,796 		JBrowse link
G Cep57 centrosomal protein 57 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:12116237 PMID:21552266 PMID:24259107 PMID:25741868 PMID:28492532 More... NCBI chr 8:18,951,179...18,971,205
Ensembl chr 8:18,932,808...18,970,890 		JBrowse link
G Mad1l1 mitotic arrest deficient 1 like 1 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:25741868 NCBI chr12:19,434,782...19,744,574
Ensembl chr12:19,434,746...19,744,567 		JBrowse link
mosaic variegated aneuploidy syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep57 centrosomal protein 57 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 2 OMIM
ClinVar		 PMID:9536098 PMID:12116237 PMID:16199547 PMID:17576681 PMID:21552266 More... NCBI chr 8:18,951,179...18,971,205
Ensembl chr 8:18,932,808...18,970,890 		JBrowse link
mosaic variegated aneuploidy syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trip13 thyroid hormone receptor interactor 13 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 3 | ClinVar Annotator: match by term: TRIP13-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:28553959 More... NCBI chr 1:31,185,700...31,230,638
Ensembl chr 1:31,185,594...31,230,634 		JBrowse link
mosaic variegated aneuploidy syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 4 OMIM
ClinVar		 PMID:34009673 NCBI chr 8:53,632,777...53,639,661
Ensembl chr 8:53,632,044...53,639,650 		JBrowse link
Mosaic Variegated Aneuploidy Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slf2 SMC5-SMC6 complex localization factor 2 ISO ClinVar Annotator: match by term: Atelis syndrome 1 OMIM
ClinVar		 PMID:36333305 NCBI chr 1:253,731,979...253,794,577
Ensembl chr 1:253,732,025...253,794,577 		JBrowse link
Mosaic Variegated Aneuploidy Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smc5 structural maintenance of chromosomes 5 ISO ClinVar Annotator: match by term: Atelis syndrome 2 OMIM
ClinVar		 PMID:36333305 NCBI chr 1:230,195,894...230,265,677
Ensembl chr 1:230,195,894...230,265,621 		JBrowse link
mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mad1l1 mitotic arrest deficient 1 like 1 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition OMIM
ClinVar		 PMID:25741868 PMID:36322655 NCBI chr12:19,434,782...19,744,574
Ensembl chr12:19,434,746...19,744,567 		JBrowse link
Mowat-Wilson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adnp activity-dependent neuroprotector homeobox ISO ClinVar Annotator: match by term: Hirschsprung disease mental retardation syndrome ClinVar PMID:25741868 NCBI chr 3:177,310,258...177,340,379
Ensembl chr 3:177,310,258...177,336,188 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO
ISS 		ClinVar Annotator: match by term: Mowat-Wilson syndrome | ClinVar Annotator: match by term: ZEB2-related condition
OMIM:235730
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:2030158 PMID:9536098 PMID:9719364 PMID:11279515 PMID:11448942 More... NCBI chr 3:49,624,028...49,754,323
Ensembl chr 3:49,624,028...49,754,323 		JBrowse link
Muenke syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO
ISS 		ClinVar Annotator: match by term: MUENKE NONSYNDROMIC CORONAL CRANIOSYNOSTOSIS | ClinVar Annotator: match by term: Muenke nonsyndromic coronal craniosynostosis | ClinVar Annotator: match by term: Muenke syndrome
OMIM:602849
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		JBrowse link
MUGGENTHALER-CHOWDHURY-CHIOZA SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyal2 hyaluronidase 2 ISO ClinVar Annotator: match by term: HYAL2-related disorder | ClinVar Annotator: match by term: Muggenthaler-Chowdhury-Chioza syndrome OMIM
ClinVar		 PMID:25741868 PMID:26633546 PMID:28081210 PMID:28492532 PMID:34906488 NCBI chr 8:117,121,802...117,125,494
Ensembl chr 8:117,121,787...117,125,493 		JBrowse link
Mullegama-Klein-Martinez syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sh2d1a SH2 domain containing 1A ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER, X-LINKED, WITH CRANIOFACIAL ABNORMALITIES ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:126,239,191...126,267,425
Ensembl chr  X:126,239,200...126,267,424 		JBrowse link
G Stag2 STAG2 cohesin complex component ISO ClinVar Annotator: match by term: Mullegama-Klein-Martinez syndrome | ClinVar Annotator: match by term: STAG2-related disorder OMIM
ClinVar		 PMID:25741868 PMID:28296084 PMID:28492532 PMID:29263825 PMID:30158690 More... NCBI chr  X:125,839,660...125,971,209
Ensembl chr  X:125,840,401...125,971,209 		JBrowse link
multiple benign circumferential skin creases on limbs term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb5 tubulin, beta 5 class I ISO ClinVar Annotator: match by term: CIRCUMFERENTIAL SKIN CREASES, KUNZE TYPE | ClinVar Annotator: match by term: Skin creases, multiple benign ring-shaped, of limbs ClinVar PMID:23246003 PMID:24833723 PMID:25741868 PMID:26637975 PMID:29671837 More... NCBI chr20:2,917,577...2,921,726
Ensembl chr20:2,917,539...2,921,726 		JBrowse link
Multisystem Autoimmune Disease with Facial Dysmorphism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itch itchy E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20170897 PMID:25741868 More... NCBI chr 3:164,102,490...164,193,932
Ensembl chr 3:164,105,812...164,193,932 		JBrowse link
Nabais Sa-de Vries Syndrome, Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spop speckle type BTB/POZ protein ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and dysmorphic facies | ClinVar Annotator: match by term: SPOP-related condition | ClinVar Annotator: match by term: SPOP-related neurodevelopmental condition OMIM
ClinVar		 PMID:25741868 PMID:32109420 NCBI chr10:80,854,890...80,935,781
Ensembl chr10:80,854,973...80,935,146 		JBrowse link
Nager acrofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sf3b4 splicing factor 3B subunit 4 ISO ClinVar Annotator: match by term: Nager syndrome | ClinVar Annotator: match by term: SF3B4-related acrofacial dysostosis | ClinVar Annotator: match by term: SF3B4-related condition
CTD Direct Evidence: marker/mechanism
DNA:mutations:exon:multiple (human)
DNA:mutations, haploinsufficiency:exon:multiple (human) 		OMIM
ClinVar
CTD
RGD		 PMID:16199547 PMID:22541558 PMID:23568615 PMID:24003905 PMID:25741868 More... RGD:155804295, RGD:11062353 NCBI chr 2:186,421,667...186,426,419
Ensembl chr 2:186,421,636...186,426,833 		JBrowse link
Neu-Laxova syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phgdh phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: Neu-Laxova syndrome 1 | ClinVar Annotator: match by term: PHGDH-related disorder
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 More... NCBI chr 2:188,595,700...188,624,789
Ensembl chr 2:188,595,700...188,624,789 		JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:222,623,553...222,646,187
Ensembl chr 1:222,623,556...222,655,693 		JBrowse link
NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dtymk deoxythymidylate kinase ISO ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with progressive microcephaly OMIM
ClinVar		 PMID:25741868 PMID:31271740 PMID:34918187 PMID:34926941 NCBI chr 9:101,762,899...101,771,733
Ensembl chr 9:101,762,899...101,774,504 		JBrowse link
Neurodevelopmental disorder with ataxia and brain abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptpmt1 protein tyrosine phosphatase, mitochondrial 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH ATAXIA AND BRAIN ABNORMALITIES ClinVar
OMIM		 PMID:39279645 NCBI chr 3:97,345,752...97,355,396
Ensembl chr 3:97,345,752...97,355,254 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Svbp small vasohibin binding protein ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly OMIM
ClinVar		 PMID:25741868 PMID:30607023 PMID:31363758 PMID:39412222 NCBI chr 5:138,091,773...138,099,048
Ensembl chr 5:138,093,456...138,099,068 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttc5 tetratricopeptide repeat domain 5 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism OMIM
ClinVar		 PMID:25741868 PMID:29302074 PMID:32439809 NCBI chr15:26,466,613...26,484,269
Ensembl chr15:26,466,624...26,484,212 		JBrowse link
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 ISO OMIM NCBI chr10:35,187,412...35,203,909
Ensembl chr10:35,193,890...35,203,906 		JBrowse link
Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gtf3c3 general transcription factor IIIC subunit 3 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, BRAIN ANOMALIES, AND SEIZURES ClinVar
OMIM		 PMID:25741868 PMID:28097321 PMID:28940097 PMID:30552426 PMID:39636576 More... NCBI chr 9:63,375,860...63,437,475
Ensembl chr 9:63,375,874...63,437,413 		JBrowse link
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy OMIM
ClinVar		 PMID:25741868 PMID:31794024 PMID:32125366 PMID:32901138 PMID:34878169 NCBI chr 8:53,626,382...53,630,042
Ensembl chr 8:53,625,474...53,630,241 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp1r21 protein phosphatase 1, regulatory subunit 21 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities | ClinVar Annotator: match by term: PPP1R21-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28940097 PMID:29808498 PMID:30520571 More... NCBI chr 6:11,655,059...11,724,219
Ensembl chr 6:11,655,059...11,724,219 		JBrowse link
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures OMIM
ClinVar		 PMID:25741868 PMID:32220291 PMID:32719099 NCBI chr20:11,222,171...11,350,416
Ensembl chr20:11,222,164...11,350,415 		JBrowse link
G Cpsf3 cleavage and polyadenylation specific factor 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures ClinVar PMID:35121750 NCBI chr 6:46,564,855...46,592,776
Ensembl chr 6:46,564,735...46,594,136 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tti1 TELO2 interacting protein 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and movement abnormalities OMIM
ClinVar		 PMID:25741868 PMID:26539891 PMID:36724785 NCBI chr 3:167,058,985...167,102,858
Ensembl chr 3:167,058,998...167,086,729 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wars1 tryptophanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities | ClinVar Annotator: match by term: WARS1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:34585293 PMID:35790048 PMID:35815345 NCBI chr 6:133,540,463...133,571,645
Ensembl chr 6:133,539,744...133,571,645 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync1i2 dynein cytoplasmic 1 intermediate chain 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and structural brain anomalies OMIM
ClinVar		 PMID:25741868 PMID:31079899 NCBI chr 3:76,441,621...76,492,782
Ensembl chr 3:76,424,469...76,492,782 		JBrowse link
neurodevelopmental disorder with microcephaly, absent speech, and hypotonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flvcr1 FLVCR choline and heme transporter 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:39306721 NCBI chr13:105,117,402...105,139,780
Ensembl chr13:105,117,402...105,139,759 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg1 adhesion G protein-coupled receptor G1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr19:10,009,983...10,047,138
Ensembl chr19:10,010,031...10,047,124 		JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25657822 PMID:25741868 PMID:27770071 PMID:28492532 PMID:34837432 NCBI chr  X:37,566,320...37,796,766
Ensembl chr  X:37,566,378...37,796,760 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr16:84,885,597...84,996,482
Ensembl chr16:84,885,597...84,996,482 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25741868 NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,822,620...11,968,266 		JBrowse link
G Dcx doublecortin ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:11175293 PMID:11468322 PMID:18414213 PMID:18685874 PMID:23365099 More... NCBI chr  X:112,227,455...112,370,291
Ensembl chr  X:112,227,455...112,304,161 		JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr  X:12,152,346...12,165,983
Ensembl chr  X:12,152,346...12,165,983 		JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr14:81,956,777...82,087,392
Ensembl chr14:81,956,777...82,087,246 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr 6:135,436,375...135,502,117
Ensembl chr 6:135,430,750...135,502,116 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
G Foxg1 forkhead box G1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:19806373 PMID:21441262 PMID:22190898 PMID:23757202 PMID:24836831 More... NCBI chr 6:72,401,582...72,404,392
Ensembl chr 6:72,394,239...72,427,392 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:7574460 PMID:16199547 PMID:23933818 PMID:23933819 PMID:23933820 More... NCBI chr10:6,136,458...6,560,003
Ensembl chr10:6,138,037...6,551,378 		JBrowse link
G Kcnc1 potassium voltage-gated channel subfamily C member 1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:28492532 NCBI chr 1:106,039,247...106,081,034
Ensembl chr 1:106,039,237...106,081,033 		JBrowse link
G Kif2a kinesin family member 2A ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr 2:40,101,548...40,164,780
Ensembl chr 2:40,101,548...40,186,618 		JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:28492532 NCBI chr10:60,031,441...60,090,259
Ensembl chr10:60,032,514...60,090,196 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25741868 PMID:26704558 PMID:28492532 NCBI chr  X:101,061,002...101,166,777
Ensembl chr  X:101,065,263...101,165,269 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:22228622 PMID:22729224 PMID:22949682 PMID:25326635 PMID:25326637 More... NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:117,143,468...117,177,411 		JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:11112660 PMID:15749016 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr 1:104,476,801...104,483,409
Ensembl chr 1:104,478,088...104,483,408 		JBrowse link
G Rnf113a1 ring finger protein 113A1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr  X:121,293,621...121,294,844
Ensembl chr  X:121,292,881...121,407,787 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr 3:70,710,862...70,845,569
Ensembl chr 3:70,710,954...70,845,279 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25741868 PMID:28492532 PMID:31904124 PMID:35701389 NCBI chr 7:133,860,901...134,034,809
Ensembl chr 7:133,861,227...134,030,026 		JBrowse link
G Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr 1:233,617,277...233,784,908
Ensembl chr 1:233,617,366...233,784,869 		JBrowse link
G Smpd4 sphingomyelin phosphodiesterase 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies OMIM
ClinVar		 PMID:25741868 PMID:31495489 PMID:37880672 NCBI chr11:96,866,805...96,890,520
Ensembl chr11:96,866,805...96,890,520 		JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25741868 NCBI chr 7:131,992,151...131,996,850
Ensembl chr 7:131,968,770...131,996,035 		JBrowse link
G Tubb2a tubulin, beta 2A class IIa ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr17:31,002,186...31,006,057
Ensembl chr17:30,983,387...31,006,838 		JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:18414213 PMID:25741868 PMID:26130693 PMID:28492532 PMID:28677066 More... NCBI chr19:68,365,687...68,374,741
Ensembl chr19:68,365,587...68,374,740 		JBrowse link
G Wdr62 WD repeat domain 62 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:18414213 PMID:25741868 PMID:28492532 PMID:31589614 PMID:33502066 More... NCBI chr 1:94,618,992...94,658,097
Ensembl chr 1:94,618,992...94,658,223 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sars1 seryl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, ataxia, and seizures | ClinVar Annotator: match by term: SARS1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28236339 PMID:28492532 PMID:34570399 PMID:35790048 More... NCBI chr 2:198,753,673...198,769,411
Ensembl chr 2:198,753,675...198,769,365 		JBrowse link
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gemin4 gem (nuclear organelle) associated protein 4 ISO ClinVar Annotator: match by term: GEMIN4-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:27878435 PMID:28492532 PMID:30237576 NCBI chr10:61,560,172...61,571,765
Ensembl chr10:61,564,657...61,596,532 		JBrowse link
Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dohh deoxyhypusine hydroxylase ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment OMIM
ClinVar		 PMID:25741868 PMID:35858628 NCBI chr 7:8,972,202...8,977,025
Ensembl chr 7:8,972,202...8,977,025 		JBrowse link
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmx2 thioredoxin-related transmembrane protein 2 ISO OMIM NCBI chr 3:90,161,628...90,169,278
Ensembl chr 3:90,160,930...90,169,278 		JBrowse link
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mthfs methenyltetrahydrofolate synthetase ISO OMIM NCBI chr 8:98,609,410...98,681,901
Ensembl chr 8:98,609,399...98,752,036 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmb1 proteasome 20S subunit beta 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and absent language ClinVar
OMIM		 PMID:32129449 NCBI chr 1:65,115,770...65,136,516
Ensembl chr 1:65,114,724...65,136,640 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync1i2 dynein cytoplasmic 1 intermediate chain 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies ClinVar PMID:25741868 PMID:31079899 NCBI chr 3:76,441,621...76,492,782
Ensembl chr 3:76,424,469...76,492,782 		JBrowse link
G Prune1 prune exopolyphosphatase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | ClinVar Annotator: match by term: PRUNE1-related condition OMIM
ClinVar		 PMID:25741868 PMID:26539891 PMID:28211990 PMID:28334956 PMID:28492532 More... NCBI chr 2:185,519,569...185,548,402
Ensembl chr 2:185,520,781...185,548,402 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpsf3 cleavage and polyadenylation specific factor 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures OMIM
ClinVar		 PMID:25741868 NCBI chr 6:46,564,855...46,592,776
Ensembl chr 6:46,564,735...46,594,136 		JBrowse link
Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nars1 asparaginyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32738225 PMID:32788587 PMID:33001864 More... NCBI chr18:60,259,506...60,275,782
Ensembl chr18:60,259,516...60,275,782 		JBrowse link
Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nars1 asparaginyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: NARS1-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32738225 PMID:39825153 NCBI chr18:60,259,506...60,275,782
Ensembl chr18:60,259,516...60,275,782 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chka choline kinase alpha ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures ClinVar
OMIM		 PMID:25741868 PMID:35202461 NCBI chr 1:210,506,069...210,554,753
Ensembl chr 1:210,506,056...210,554,752 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exoc8 exocyst complex component 8 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32103185 NCBI chr19:69,752,387...69,754,876
Ensembl chr19:69,727,231...69,804,820 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps50 VPS50 subunit of EARP/GARPII complex ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis OMIM
ClinVar		 PMID:25741868 PMID:34037727 NCBI chr 4:32,439,101...32,540,299
Ensembl chr 4:32,439,138...32,540,538 		JBrowse link
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies ClinVar PMID:23545411 PMID:25741868 PMID:27334371 PMID:27389779 PMID:29395664 More... NCBI chr 9:62,853,904...63,247,472
Ensembl chr 9:62,859,645...63,074,758 		JBrowse link
G Plaa phospholipase A2, activating protein ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | ClinVar Annotator: match by term: PLAA-related condition OMIM
ClinVar		 PMID:25741868 PMID:28007986 PMID:28413018 PMID:28492532 PMID:31322726 NCBI chr 5:114,544,327...114,576,023
Ensembl chr 5:114,544,325...114,576,109 		JBrowse link
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies ClinVar PMID:25741868 PMID:31794024 PMID:32125366 PMID:32901138 NCBI chr 8:53,626,382...53,630,042
Ensembl chr 8:53,625,474...53,630,241 		JBrowse link
Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppfibp1 PPFIA binding protein 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities ClinVar
OMIM		 PMID:25741868 PMID:35830857 NCBI chr 4:181,538,249...181,682,079
Ensembl chr 4:181,539,450...181,682,076 		JBrowse link
NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tet3 tet methylcytosine dioxygenase 3 ISO ClinVar Annotator: match by term: Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities ClinVar NCBI chr 4:117,425,106...117,525,495
Ensembl chr 4:117,429,857...117,520,486 		JBrowse link
G Zmym2 zinc finger MYM-type containing 2 ISO ClinVar Annotator: match by term: Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities | ClinVar Annotator: match by term: ZMYM2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28191889 PMID:28492532 PMID:32891193 PMID:33004838 More... NCBI chr15:35,151,356...35,224,528
Ensembl chr15:35,127,994...35,224,941 		JBrowse link
neurofibromatosis-Noonan syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map2k2 mitogen activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:28492532 NCBI chr 7:9,241,449...9,264,216
Ensembl chr 7:9,241,310...9,260,940 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: NEUROFIBROMATOSIS WITH NOONAN PHENOTYPE | ClinVar Annotator: match by term: Neurofibromatosis with Noonan phenotype | ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1568246 PMID:1568247 PMID:1757093 PMID:1783401 PMID:2114220 More... NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,804,266...65,034,946 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:22465605 PMID:28074573 PMID:28492532 NCBI chr12:41,026,079...41,085,577
Ensembl chr12:41,043,785...41,085,577 		JBrowse link
G Spred1 sprouty-related, EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:124,437,230...124,504,358
Ensembl chr 3:124,437,230...124,504,358 		JBrowse link
Nijmegen Breakage Syndrome-Like Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rad50 RAD50 double strand break repair protein ISO ClinVar Annotator: match by term: Nijmegen breakage syndrome-like disorder | ClinVar Annotator: match by term: RAD50 DEFICIENCY
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1887849 PMID:9536098 PMID:14684699 PMID:15855896 PMID:16199547 More... NCBI chr10:38,310,147...38,362,100
Ensembl chr10:38,310,147...38,362,100 		JBrowse link
non-syndromic X-linked intellectual disability 93 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brwd3 bromodomain and WD repeat domain containing 3 ISO ClinVar Annotator: match by term: BRWD3-related condition | ClinVar Annotator: match by term: BRWD3-related disorder | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH MACROCEPHALY | ClinVar Annotator: match by term: X-linked intellectual developmental disorder-93
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:7943039 PMID:17668385 PMID:18414213 PMID:23425632 PMID:24462886 More... NCBI chr  X:77,843,766...77,937,240
Ensembl chr  X:77,848,982...77,937,745 		JBrowse link
Nonsyndromic Trigonocephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frem1 Fras1 related extracellular matrix 1 ISO DNA:deletion, duplication,missense mutation:cds:
DNA:mutations:cds: 		RGD PMID:21931569 PMID:21931569 RGD:11554186, RGD:11554186 NCBI chr 5:102,367,201...102,515,464
Ensembl chr 5:102,367,201...102,515,404 		JBrowse link
Noonan Like Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Noonan-like syndrome ClinVar PMID:19620960 PMID:20951944 PMID:24033266 PMID:25741868 PMID:27069254 More... NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:53,384,656...53,468,067 		JBrowse link
G Cdc42 cell division cycle 42 ISO ClinVar Annotator: match by term: Noonan-like syndrome ClinVar PMID:25741868 PMID:29394990 NCBI chr 5:154,838,478...154,876,629
Ensembl chr 5:154,839,631...154,876,627 		JBrowse link
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Noonan Syndrome-like developmental disorder ClinVar PMID:23354439 PMID:25741868 PMID:27738187 PMID:28492532 PMID:28808027 More... NCBI chr 1:89,957,760...89,966,213
Ensembl chr 1:89,957,760...89,966,213 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO DNA:missense mutations:cds:p.D106A, p.F285L (human) RGD PMID:15996221 RGD:11064737 NCBI chr12:41,026,079...41,085,577
Ensembl chr12:41,043,785...41,085,577 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: NOONAN SYNDROME WITH PIGMENTED VILLONODULAR SYNOVITIS ClinVar PMID:1758637 PMID:1995362 PMID:9030684 PMID:9536098 PMID:10675333 More... NCBI chr 6:20,286,117...20,363,350
Ensembl chr 6:20,286,117...20,363,350 		JBrowse link
G Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta ISO ClinVar Annotator: match by term: Noonan-like disorder ClinVar PMID:25741868 PMID:28492532 PMID:31024343 NCBI chr 7:69,826,404...69,848,702
Ensembl chr 7:69,826,404...69,849,007 		JBrowse link
Noonan syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apaf1 apoptotic peptidase activating factor 1 ISS MouseDO NCBI chr 7:27,381,392...27,466,772
Ensembl chr 7:27,381,855...27,466,772 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome | ClinVar Annotator: match by term: Turner phenotype with normal karyotype 		CTD
ClinVar		 PMID:2500657 PMID:2851224 PMID:3265306 PMID:5586607 PMID:11313766 More... NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:69,342,813...69,476,931 		JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome ClinVar PMID:16199547 PMID:18698078 PMID:19571318 PMID:19620960 PMID:20543203 More... NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:53,384,656...53,468,067 		JBrowse link
G Dmpk DM1 protein kinase ISO ClinVar Annotator: match by term: Noonan syndrome ClinVar NCBI chr 1:87,858,294...87,868,624
Ensembl chr 1:87,858,316...87,868,910 		JBrowse link
G Epha2 Eph receptor A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22845314 NCBI chr 5:158,888,629...158,917,100
Ensembl chr 5:158,888,629...158,917,234 		JBrowse link
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Noonan syndrome ClinVar NCBI chr 1:89,957,760...89,966,213
Ensembl chr 1:89,957,760...89,966,213 		JBrowse link
G F11 coagulation factor XI ISO protein:decreased expression:plasma: RGD PMID:3354599 RGD:11041743 NCBI chr16:53,720,502...53,741,547
Ensembl chr16:53,718,621...53,740,941 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17703371 NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:205,725,975...205,729,590 		JBrowse link
G Igf1 insulin-like growth factor 1 treatment ISO protein:decreased expression:serum (mouse) RGD PMID:22371576 PMID:16263833 RGD:11352540, RGD:11063837 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:24,130,137...24,246,764 		JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO RGD PMID:16263833 RGD:11063837 NCBI chr10:14,397,076...14,408,439
Ensembl chr10:14,403,399...14,407,138 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO
ISS 		MouseDO
RGD		 PMID:21804188 RGD:9590337 NCBI chr15:2,688,535...2,861,443
Ensembl chr15:2,688,811...2,844,343 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO Noonan syndrome type 3, OMIM:609942
ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome
ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.V14I (mouse) 		ClinVar
CTD
RGD		 PMID:8234268 PMID:8246952 PMID:10590419 PMID:10681080 PMID:12110640 More... RGD:1600472, RGD:11060134 NCBI chr 4:179,916,255...179,949,613
Ensembl chr 4:179,919,802...179,949,320 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr 1:205,729,402...205,744,754
Ensembl chr 1:205,729,409...205,744,759 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome
DNA:missense mutation:cds:c.742G>A (p.G248R), c.360C>A (p.H120Q), c.2245T>C (p.Y749H) (human)
DNA:missense mutations:cds:R210X, c.2220-17C-A (human) 		ClinVar
RGD		 PMID:16199547 PMID:16356934 PMID:24362817 PMID:25335493 PMID:25480913 More... RGD:151667909, RGD:151708718, RGD:151667911 NCBI chr11:96,991,956...97,008,127
Ensembl chr11:96,991,590...97,007,851 		JBrowse link
G Map2k1 mitogen activated protein kinase kinase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Turner Syndrome, Male 		CTD
ClinVar		 PMID:12612583 PMID:15917206 PMID:16439621 PMID:16538226 PMID:17366577 More... NCBI chr 8:73,578,747...73,650,184
Ensembl chr 8:73,578,752...73,650,184 		JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome 		CTD
ClinVar		 PMID:17703371 PMID:17981815 PMID:18039235 PMID:18042262 PMID:18413255 More... NCBI chr 7:9,241,449...9,264,216
Ensembl chr 7:9,241,310...9,260,940 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome 		CTD
ClinVar		 PMID:2674680 PMID:8120410 PMID:10598665 PMID:12460918 PMID:14982869 More... NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:193,271,430...193,278,543 		JBrowse link
G Plat plasminogen activator, tissue type ISO protein:increased activity:blood: RGD PMID:20686427 RGD:13207331 NCBI chr16:75,943,061...76,022,037
Ensembl chr16:75,943,064...75,967,696 		JBrowse link
G Plg plasminogen ISO protein:decreased activity:blood: RGD PMID:20686427 RGD:13207331 NCBI chr 1:50,872,927...50,915,406
Ensembl chr 1:50,872,926...50,917,320 		JBrowse link
G Ppp1cb protein phosphatase 1 catalytic subunit beta ISO ClinVar Annotator: match by term: Noonan syndrome ClinVar PMID:25741868 PMID:25741869 PMID:25944380 PMID:27264673 PMID:27681385 More... NCBI chr 6:29,681,099...29,712,835
Ensembl chr 6:29,681,100...29,712,924 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome | ClinVar Annotator: match by term: Turner Syndrome, Male
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:1635821 PMID:1672296 PMID:2057894 PMID:2564168 PMID:2572450