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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:Jaw Diseases
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Accession:DOID:9003876 term browser browse the term
Definition:Diseases involving the JAW.
Synonyms:exact_synonym: Jaw Disease
 primary_id: MESH:D007571
 xref: EFO:0009468


show annotations for term's descendants           Sort by:
agnathia-otocephaly complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXH1 forkhead box H1 ISO OMIM:202650 MouseDO NCBI chr 8:141,240,691...141,244,381
Ensembl chr 8:144,225,933...144,232,736 		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 OMIM
ClinVar		 PMID:12244557 PMID:21294718 PMID:22211708 PMID:22674740 PMID:23444262 More... NCBI chr 1:146,151,633...146,227,926
Ensembl chr 1:149,867,634...149,943,810 		JBrowse link
G TRAPPC10 trafficking protein particle complex subunit 10 ISO OMIM:202650 MouseDO NCBI chr21:30,269,085...30,363,396
Ensembl chr21:43,581,617...43,656,740 		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 chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104 		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 ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate | ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome OMIM
ClinVar		 PMID:9536098 PMID:9774969 PMID:10886756 PMID:11159940 PMID:15200513 More... NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104 		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:30904718 PMID:33963760 NCBI chr 4:93,447,095...93,770,339
Ensembl chr 4:104,113,520...104,435,394 		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:67,093,675...67,231,318
Ensembl chr  X:77,255,312...77,342,756 		JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Kabuki-like syndrome ClinVar PMID:25741868 NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206 		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 | ClinVar Annotator: match by term: Okamoto syndrome OMIM
ClinVar		 PMID:18414213 PMID:25741868 PMID:26173930 PMID:26220823 PMID:26954065 More... NCBI chr 9:40,898,593...40,911,159
Ensembl chr 9:83,324,238...83,336,756 		JBrowse link
G MED13L mediator complex subunit 13L ISO ClinVar Annotator: match by term: Kabuki-like syndrome ClinVar PMID:25741868 NCBI chr12:113,531,181...113,850,854
Ensembl chr12:116,909,244...117,065,649 		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 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234 		JBrowse link
autosomal dominant craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKH ANKH inorganic pyrophosphate transport regulator ISO ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant OMIM
ClinVar		 PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 More... NCBI chr 5:15,014,019...15,175,467
Ensembl chr 5:14,855,914...14,917,729 		JBrowse link
G OTULIN OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant ClinVar PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 More... NCBI chr 5:14,969,432...15,017,666
Ensembl chr 5:14,809,539...14,837,750 		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 ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive OMIM
ClinVar		 PMID:11146471 PMID:23951358 PMID:25741868 PMID:28492532 NCBI chr 6:119,213,513...119,227,617 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 3:162,794,184...162,858,574
Ensembl chr 3:170,845,494...170,911,481 		JBrowse link
G FOXE1 forkhead box E1 ISO ClinVar Annotator: match by term: Bamforth-Lazarus syndrome OMIM
ClinVar		 PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:21177256 More... NCBI chr 9:68,943,747...68,947,226 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 ClinVar Annotator: match by term: Bartsocas-Papas syndrome 1 | ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE OMIM
ClinVar		 PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 More... NCBI chr21:28,062,975...28,091,323
Ensembl chr21:41,389,654...41,417,472 		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 chr10:96,794,228...96,835,449
Ensembl chr10:100,280,490...100,316,918 		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 chr19:46,831,190...46,853,367
Ensembl chr19:55,747,722...55,765,942 		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 chr12:34,808,575...34,816,324
Ensembl chr12:35,596,821...35,604,560 		JBrowse link
G PLEKHA5 pleckstrin homology domain containing A5 ISO ClinVar Annotator: match by term: Bilateral cleft lip ClinVar PMID:25741868 NCBI chr12:19,132,418...19,377,981
Ensembl chr12:19,518,125...19,762,056 		JBrowse link
G SOX3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Bilateral cleft lip ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:129,654,296...129,656,446 JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Bilateral cleft lip ClinVar PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 NCBI chr 1:141,159,657...141,201,018
Ensembl chr 1:144,944,105...144,989,794 		JBrowse link
Bisphosphonate-Associated Osteonecrosis of the Jaw term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain treatment ISO associated with Multiple Myeloma RGD PMID:21396799 RGD:11041182 NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677 		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:8075649 PMID:9537325 PMID:9744472 PMID:11305955 More... NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488 		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 ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2 | ClinVar Annotator: match by term: CTNND1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28301459 PMID:28492532 PMID:29805042 PMID:32196547 More... NCBI chr11:53,000,582...53,058,054
Ensembl chr11:56,470,174...56,527,593 		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 3:44,656,791...44,774,655
Ensembl chr 3:45,713,962...45,809,700 		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 9:104,638,011...104,668,204
Ensembl chr 9:133,248,761...133,259,631 		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 9:104,638,011...104,668,204
Ensembl chr 9:133,248,761...133,259,631 		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 ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2 OMIM
ClinVar		 PMID:35642635 NCBI chr 6:43,812,606...43,814,252
Ensembl chr 6:45,097,114...45,097,368 		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 chr2B:16,792,401...16,947,766
Ensembl chr2B:146,975,995...147,132,634 		JBrowse link
G TGDS TDP-glucose 4,6-dehydratase ISO ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: TGDS-related condition OMIM
ClinVar		 PMID:9777339 PMID:18501694 PMID:22887726 PMID:25480037 PMID:25741868 More... NCBI chr13:75,747,686...75,770,010
Ensembl chr13:94,903,511...94,925,637 		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 9:5,449,982...5,598,891
Ensembl chr 9:5,633,779...5,779,884 		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 ClinVar Annotator: match by term: CCM2-related condition | ClinVar Annotator: match by term: Cerebral cavernous malformation 2 OMIM
ClinVar		 PMID:2468908 PMID:9536098 PMID:14624391 PMID:14740320 PMID:15122722 More... NCBI chr 7:45,714,413...45,791,016
Ensembl chr 7:45,808,145...45,858,828 		JBrowse link
G NACAD NAC alpha domain containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 2 ClinVar PMID:17160895 PMID:28492532 NCBI chr 7:45,794,340...45,802,532 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 ClinVar Annotator: match by term: Cerebral cavernous malformation 3 | ClinVar Annotator: match by term: Cerebral cavernous malformations 3
DNA:mutations:multiple (human)		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:15543491 PMID:16199547 PMID:16329096 PMID:16380626 More... RGD:401827114 RGD:401827115 NCBI chr 3:164,703,909...164,755,085
Ensembl chr 3:172,760,923...172,811,430 		JBrowse link
G SERPINI1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 3 ClinVar PMID:15543491 PMID:18300272 PMID:23801932 PMID:25741868 PMID:28492532 NCBI chr 3:164,755,803...164,845,572
Ensembl chr 3:172,865,891...172,902,372 		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 ClinVar Annotator: match by term: Cerebro-costo-mandibular syndrome | ClinVar Annotator: match by term: SNRPB-related condition OMIM
ClinVar		 PMID:25047197 PMID:25504470 PMID:25741868 PMID:26240113 PMID:26971886 More... NCBI chr20:2,571,393...2,580,642
Ensembl chr20:2,335,499...2,344,763 		JBrowse link
cherubism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADD1 adducin 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:2,986,301...3,072,590
Ensembl chr 4:2,920,781...2,975,012 		JBrowse link
G ATP5ME ATP synthase membrane subunit e ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 Ensembl chr 4:705,707...707,172 JBrowse link
G CPLX1 complexin 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:889,037...930,046
Ensembl chr 4:819,833...858,953 		JBrowse link
G CTBP1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:1,354,806...1,393,244
Ensembl chr 4:1,238,984...1,266,822 		JBrowse link
G DGKQ diacylglycerol kinase theta ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:1,075,133...1,090,081
Ensembl chr 4:994,985...1,007,724 		JBrowse link
G DOK7 docking protein 7 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:3,613,018...3,653,764
Ensembl chr 4:3,605,185...3,628,570 		JBrowse link
G FAM193A family with sequence similarity 193 member A ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:2,678,935...2,875,203
Ensembl chr 4:2,641,979...2,777,761 		JBrowse link
G FAM53A family with sequence similarity 53 member A ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 Ensembl chr 4:1,647,466...1,722,938 JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692 		JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:1,125,623...1,142,884
Ensembl chr 4:1,045,583...1,059,936 		JBrowse link
G GAK cyclin G associated kinase ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:952,474...1,049,612
Ensembl chr 4:883,096...967,473 		JBrowse link
G GRK4 G protein-coupled receptor kinase 4 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:3,106,064...3,181,270
Ensembl chr 4:3,008,126...3,083,094 		JBrowse link
G HAUS3 HAUS augmin like complex subunit 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:2,370,947...2,385,108
Ensembl chr 4:2,282,482...2,292,739 		JBrowse link
G HGFAC HGF activator ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:3,590,908...3,599,781
Ensembl chr 4:3,575,819...3,583,436 		JBrowse link
G HTT huntingtin ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:3,215,081...3,388,587
Ensembl chr 4:3,128,718...3,283,730 		JBrowse link
G IDUA alpha-L-iduronidase ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:1,102,288...1,120,973
Ensembl chr 4:1,020,582...1,037,877 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:1,953,033...1,994,958
Ensembl chr 4:1,862,788...1,900,901 		JBrowse link
G MAEA macrophage erythroblast attacher, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:1,432,848...1,485,764
Ensembl chr 4:1,315,810...1,366,448 		JBrowse link
G MFSD10 major facilitator superfamily domain containing 10 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:3,073,071...3,077,765
Ensembl chr 4:2,975,493...2,979,791 		JBrowse link
G MSANTD1 Myb/SANT DNA binding domain containing 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:3,393,646...3,408,820
Ensembl chr 4:3,290,354...3,305,139 		JBrowse link
G MXD4 MAX dimerization protein 4 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:2,390,409...2,405,141 JBrowse link
G MYL5 myosin light chain 5 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:723,153...725,981
Ensembl chr 4:708,548...715,897 		JBrowse link
G NAT8L N-acetyltransferase 8 like ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:2,201,326...2,211,302 JBrowse link
G NELFA negative elongation factor complex member A ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:2,119,699...2,147,618
Ensembl chr 4:2,027,939...2,054,669 		JBrowse link
G NICOL1 NELL2 interacting cell ontogeny regulator 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:2,184,128...2,186,148 JBrowse link
G NKX1-1 NK1 homeobox 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:1,547,939...1,551,457 JBrowse link
G NOP14 NOP14 nucleolar protein ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:3,080,444...3,105,999
Ensembl chr 4:2,982,906...3,007,548 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:2,009,276...2,119,182
Ensembl chr 4:1,945,307...2,027,425 		JBrowse link
G PCGF3 polycomb group ring finger 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:802,990...874,063
Ensembl chr 4:746,137...805,443 		JBrowse link
G PDE6B phosphodiesterase 6B ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 Ensembl chr 4:646,516...701,680 JBrowse link
G PIGG phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:499,795...540,453
Ensembl chr 4:521,807...561,790 		JBrowse link
G POLN DNA polymerase nu ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:2,214,154...2,385,094
Ensembl chr 4:2,122,309...2,292,431 		JBrowse link
G RGS12 regulator of G protein signaling 12 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:3,439,030...3,589,026
Ensembl chr 4:3,444,570...3,573,712 		JBrowse link
G RIT1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 1:131,232,277...131,245,437
Ensembl chr 1:135,063,000...135,074,942 		JBrowse link
G RNF212 ring finger protein 212 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:1,167,176...1,259,080
Ensembl chr 4:1,102,342...1,146,153 		JBrowse link
G RNF4 ring finger protein 4 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:2,614,918...2,661,785
Ensembl chr 4:2,540,612...2,563,937 		JBrowse link
G SH3BP2 SH3 domain binding protein 2 ISO ClinVar Annotator: match by term: Cherubism | ClinVar Annotator: match by term: Fibrous dysplasia of jaw OMIM
ClinVar		 PMID:9536098 PMID:11381256 PMID:12900899 PMID:14577811 PMID:15507112 More... NCBI chr 4:2,936,051...2,982,062
Ensembl chr 4:2,857,249...2,882,263 		JBrowse link
G SLBP stem-loop histone mRNA binding protein ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:1,830,247...1,849,890
Ensembl chr 4:1,744,616...1,763,796 		JBrowse link
G SLC26A1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:1,102,938...1,112,987
Ensembl chr 4:1,012,920...1,026,402 		JBrowse link
G SLC49A3 solute carrier family 49 member 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:725,725...733,127
Ensembl chr 4:715,736...723,399 		JBrowse link
G SPON2 spondin 2 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:1,309,473...1,351,529
Ensembl chr 4:1,195,848...1,200,400 		JBrowse link
G TACC3 transforming acidic coiled-coil containing protein 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:1,858,595...1,882,727
Ensembl chr 4:1,772,836...1,796,019 		JBrowse link
G TMEM129 transmembrane protein 129, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:1,853,126...1,858,461
Ensembl chr 4:1,767,517...1,772,643 		JBrowse link
G TMEM175 transmembrane protein 175 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:1,049,647...1,074,903
Ensembl chr 4:967,494...993,030 		JBrowse link
G TNIP2 TNFAIP3 interacting protein 2 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:2,884,265...2,899,160 JBrowse link
G UVSSA UV stimulated scaffold protein A ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:1,492,716...1,532,114
Ensembl chr 4:1,373,562...1,413,982 		JBrowse link
G ZFYVE28 zinc finger FYVE-type containing 28 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:2,412,659...2,564,741
Ensembl chr 4:2,320,446...2,470,638 		JBrowse link
G ZNF721 zinc finger protein 721 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:441,041...499,744 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 1:96,659,703...96,784,876
Ensembl chr 1:95,386,266...95,514,589 		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 chr12:45,178,058...45,369,042
Ensembl chr12:46,046,555...46,236,676 		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 1:96,835,259...96,910,999
Ensembl chr 1:95,561,933...95,640,214 		JBrowse link
G BHMT2 betaine--homocysteine S-methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 5:36,223,429...36,242,187
Ensembl chr 5:36,670,854...36,728,993 		JBrowse link
G BMP4 bone morphogenetic protein 4 susceptibility ISO DNA:SNP: : rs17563 (p.V152A)(human)
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
DNA:polymorphism:cds:p.V152A(human)		 RGD
ClinVar		 PMID:12404109 PMID:18771417 PMID:19249007 PMID:19557432 PMID:23227324 More... RGD:13442495 RGD:13442497 NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752 		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		 RGD
ClinVar		 PMID:15831593 PMID:25741868 PMID:26123647 PMID:28492532 PMID:29348693 More... RGD:1599548 NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488 		JBrowse link
G CTNND1 catenin delta 1 ISO ClinVar Annotator: match by term: Cleft lip with or without cleft palate ClinVar PMID:25741868 PMID:29805042 NCBI chr11:53,000,582...53,058,054
Ensembl chr11:56,470,174...56,527,593 		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 chr16:48,603,753...48,611,869
Ensembl chr16:67,995,769...68,005,829 		JBrowse link
G FGF1 fibroblast growth factor 1 ISO DNA:SNP: :rs34010 (human) RGD PMID:24613087 RGD:11567264 NCBI chr 5:137,949,100...138,054,553
Ensembl chr 5:144,056,387...144,078,001 		JBrowse link
G FGF10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 5:65,979,443...66,069,314
Ensembl chr 5:71,028,187...71,111,706 		JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942 		JBrowse link
G FGF3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr11:64,905,658...64,915,175
Ensembl chr11:68,197,962...68,207,042 		JBrowse link
G FGF7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr15:28,378,339...28,442,800
Ensembl chr15:46,702,119...46,770,163 		JBrowse link
G FGF8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr10:98,372,251...98,378,811
Ensembl chr10:101,844,792...101,853,916 		JBrowse link
G FGF9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr13:2,967,713...3,000,554
Ensembl chr13:21,273,333...21,307,198 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO DNA:SNP: :rs13317 (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:17963255 PMID:24613087 RGD:11567264 NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692 		JBrowse link
G GDF6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 8:92,767,401...92,785,955 JBrowse link
G IRF6 interferon regulatory factor 6 ISO ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:185,361,612...185,382,516
Ensembl chr 1:190,226,727...190,247,145 		JBrowse link
G KIF7 kinesin family member 7 ISO DNA:SNPs:introns:rs4932238,rs4932240(human) RGD PMID:26602496 RGD:11553833 NCBI chr15:68,312,064...68,349,864
Ensembl chr15:87,529,290...87,553,445 		JBrowse link
G MAFB MAF bZIP transcription factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chr20:37,023,988...37,027,446
Ensembl chr20:38,127,722...38,128,693 		JBrowse link
G MSX1 msh homeobox 1 ISO DNA:mutations, SNPs:multiple (human) RGD PMID:12807959 RGD:5132609 Ensembl chr 4:4,935,600...4,939,079 JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility
no_association		 ISO DNA:SNP:cds:1958G>A(human) RGD PMID:18261183 PMID:25129243 RGD:12910961 RGD:12910962 NCBI chr14:44,969,573...45,041,296
Ensembl chr14:63,223,484...63,293,881 		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 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419 		JBrowse link
G MTHFS methenyltetrahydrofolate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr15:58,810,966...58,864,831
Ensembl chr15:77,770,216...77,822,206 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 1:212,353,195...212,463,304
Ensembl chr 1:217,358,050...217,460,946 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863 		JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 ISO cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 DNA,protein:point_mutation:CDS:G554A -> amino acid W185X RGD PMID:10932188 RGD:1599795 NCBI chr11:114,497,177...114,565,338
Ensembl chr11:118,401,321...118,493,090 		JBrowse link
G NOG noggin susceptibility ISO DNA:SNP: : rs227727 (human)
DNA:SNP: :rs227731(human)		 RGD PMID:25339627 PMID:25704602 RGD:11251786 RGD:12801482 NCBI chr17:50,669,186...50,671,081
Ensembl chr17:55,532,394...55,533,092 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233 		JBrowse link
G NTN1 netrin 1 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate ClinVar NCBI chr17:42,409,797...42,631,930
Ensembl chr17:47,152,225...47,368,134 		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 chr12:19,132,418...19,377,981
Ensembl chr12:19,518,125...19,762,056 		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 chr11:16,861,464...17,095,610
Ensembl chr11:16,555,368...16,647,075 		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 9:102,625,290...102,646,066
Ensembl chr 9:131,265,750...131,285,881 		JBrowse link
G PTCH1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 ISO ClinVar Annotator: match by term: Cleft lip ClinVar PMID:25741868 NCBI chr 9:62,782,183...63,005,626
Ensembl chr 9:90,851,983...90,965,084 		JBrowse link
G SDC2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 8:93,118,379...93,230,803
Ensembl chr 8:95,314,910...95,428,519 		JBrowse link
G SLC19A1 solute carrier family 19 member 1 susceptibility ISO DNA:SNP: :80G>A (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:18797703 PMID:21254359 RGD:11565176 NCBI chr21:31,836,774...31,883,829
Ensembl chr21:45,090,595...45,134,752 		JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr13:61,569,658...61,574,817
Ensembl chr13:80,596,346...80,597,408 		JBrowse link
G SUMO1 small ubiquitin like modifier 1 ISO ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant ClinVar NCBI chr2B:89,461,773...89,493,879
Ensembl chr2B:207,613,654...207,645,590 		JBrowse link
G TCN2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16470748 NCBI chr22:11,635,107...11,655,137
Ensembl chr22:29,435,517...29,455,494 		JBrowse link
G TP63 tumor protein p63 ISO ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant ClinVar PMID:25741868 NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104 		JBrowse link
G TYMS thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr18:13,653,085...13,668,478
Ensembl chr18:17,295,182...17,310,320 		JBrowse link
G ZNF462 zinc finger protein 462 ISO ClinVar Annotator: match by term: Cleft lip ClinVar PMID:25741868 NCBI chr 9:78,015,173...78,168,766
Ensembl chr 9:106,267,333...106,357,848 		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 3:50,243,926...50,248,972
Ensembl chr 3:51,479,020...51,482,551 		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:16740912 PMID:17576681 PMID:24309930 PMID:25741868 More... NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104 		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 | ClinVar Annotator: match by term: Zlotogora-Ogur syndrome OMIM
ClinVar		 PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 More... NCBI chr11:114,497,177...114,565,338
Ensembl chr11:118,401,321...118,493,090 		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:53,309,868...53,331,151
Ensembl chr  X:63,396,392...63,399,802 		JBrowse link
G BHMT2 betaine--homocysteine S-methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 5:36,223,429...36,242,187
Ensembl chr 5:36,670,854...36,728,993 		JBrowse link
G BNC2 basonuclin zinc finger protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19706529 NCBI chr 9:16,230,704...16,684,863
Ensembl chr 9:16,733,344...17,182,609 		JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase ISO DNA:insertion
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:9787075 RGD:11576291 NCBI chr  X:33,967,329...34,374,385
Ensembl chr  X:41,659,295...42,066,570 		JBrowse link
G CBFB core-binding factor subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17022082 NCBI chr16:47,373,543...47,446,783 JBrowse link
G CDC42 cell division cycle 42 ISO MouseDO NCBI chr 1:21,245,970...21,286,210 JBrowse link
G CHUK component of inhibitor of nuclear factor kappa B kinase complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:10346820 NCBI chr10:96,794,228...96,835,449
Ensembl chr10:100,280,490...100,316,918 		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 chr 6:32,734,950...32,765,837
Ensembl chr 6:33,849,885...33,879,635 		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 chr12:40,726,137...40,757,690 JBrowse link
G DLG1 discs large MAGUK scaffold protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11238884 NCBI chr 3:194,386,263...194,648,015
Ensembl chr 3:204,323,724...204,584,987 		JBrowse link
G DNAH11 dynein axonemal heavy chain 11 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:22,228,345...22,585,681
Ensembl chr 7:21,540,932...21,897,485 		JBrowse link
G EGF epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11399798 NCBI chr 4:102,410,724...102,509,691
Ensembl chr 4:112,977,565...113,076,460 		JBrowse link
G FGF10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 5:65,979,443...66,069,314
Ensembl chr 5:71,028,187...71,111,706 		JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942 		JBrowse link
G FGF3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr11:64,905,658...64,915,175
Ensembl chr11:68,197,962...68,207,042 		JBrowse link
G FGF7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr15:28,378,339...28,442,800
Ensembl chr15:46,702,119...46,770,163 		JBrowse link
G FGF8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr10:98,372,251...98,378,811
Ensembl chr10:101,844,792...101,853,916 		JBrowse link
G FGF9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr13:2,967,713...3,000,554
Ensembl chr13:21,273,333...21,307,198 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 PMID:29526646 NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692 		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:143,799,088...143,825,282 JBrowse link
G FLNB filamin B susceptibility ISO DNA:SNPs:: RGD PMID:20634891 RGD:12791026 NCBI chr 3:57,943,263...58,107,115
Ensembl chr 3:59,359,234...59,521,989 		JBrowse link
G FZD4 frizzled class receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chr11:81,973,680...82,007,733
Ensembl chr11:85,611,989...85,616,065 		JBrowse link
G GATA6 GATA binding protein 6 ISO protein:decreased expression:secondary palatal shelf (mouse) RGD PMID:27391658 RGD:13208933 NCBI chr18:15,411,764...15,444,402 JBrowse link
G GDF6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 8:92,767,401...92,785,955 JBrowse link
G GLI3 GLI family zinc finger 3 ISO RGD PMID:18816854 RGD:12738224 NCBI chr 7:42,004,965...42,280,772
Ensembl chr 7:42,056,565...42,322,865 		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 1:490,415...596,826
Ensembl chr 1:1,647,340...1,701,614 		JBrowse link
G GOLGB1 golgin B1 ISO MouseDO NCBI chr 3:118,765,467...118,852,005
Ensembl chr 3:125,673,966...125,760,584 		JBrowse link
G GRHL3 grainyhead like transcription factor 3 ISO ClinVar Annotator: match by term: nonsyndromic cleft palate ClinVar NCBI chr 1:23,519,911...23,558,105
Ensembl chr 1:24,502,294...24,547,152 		JBrowse link
G INPP1 inositol polyphosphate-1-phosphatase ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr2B:77,652,045...77,680,013
Ensembl chr2B:195,569,417...195,597,898 		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 9:107,502,838...107,516,325
Ensembl chr 9:136,483,144...136,492,731 		JBrowse link
G IRF6 interferon regulatory factor 6 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:12920575 PMID:25741868 NCBI chr 1:185,361,612...185,382,516
Ensembl chr 1:190,226,727...190,247,145 		JBrowse link
G KIF7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21552264 NCBI chr15:68,312,064...68,349,864
Ensembl chr15:87,529,290...87,553,445 		JBrowse link
G LOC100971960 unconventional myosin-XV ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:24033266 PMID:25741868 PMID:26445815 PMID:27375115 PMID:28492532 NCBI chr17:32,661,499...32,723,320 JBrowse link
G MEIS2 Meis homeobox 2 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 NCBI chr15:15,814,739...16,025,512
Ensembl chr15:34,072,665...34,282,477 		JBrowse link
G MNT MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr17:2,375,414...2,392,423 JBrowse link
G MSX1 msh homeobox 1 ISO CTD Direct Evidence: marker/mechanism
DNA:mutations, SNPs:multiple (human)		 CTD
RGD		 PMID:12163415 PMID:12701100 PMID:12807959 PMID:15301380 RGD:5132609 Ensembl chr 4:4,935,600...4,939,079 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 chr14:44,969,573...45,041,296
Ensembl chr14:63,223,484...63,293,881 		JBrowse link
G MTHFS methenyltetrahydrofolate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr15:58,810,966...58,864,831
Ensembl chr15:77,770,216...77,822,206 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 1:212,353,195...212,463,304
Ensembl chr 1:217,358,050...217,460,946 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863 		JBrowse link
G MYO19 myosin XIX ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 PMID:28492532 NCBI chr17:20,546,652...20,586,131
Ensembl chr17:20,840,913...20,880,242 		JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 ISO cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 DNA,protein:point_mutation:CDS:G554A -> amino acid W185X RGD PMID:10932188 RGD:1599795 NCBI chr11:114,497,177...114,565,338
Ensembl chr11:118,401,321...118,493,090 		JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr18:51,428,077...51,792,995
Ensembl chr18:54,867,149...55,123,423 		JBrowse link
G NEK9 NIMA related kinase 9 ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr14:55,633,667...55,678,670
Ensembl chr14:74,478,387...74,522,320 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233 		JBrowse link
G PAX9 paired box 9 ISO RGD PMID:17097601 RGD:12801424 NCBI chr14:17,114,975...17,431,786
Ensembl chr14:35,771,454...35,791,697 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO ClinVar Annotator: match by term: nonsyndromic cleft palate ClinVar PMID:22473090 PMID:24728327 PMID:25741868 PMID:27153395 PMID:28492532 NCBI chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097 		JBrowse link
G PGAP3 post-GPI attachment to proteins phospholipase 3 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 PMID:30345601 NCBI chr17:17,600,824...17,617,757
Ensembl chr17:17,817,718...17,834,630 		JBrowse link
G PIGW phosphatidylinositol glycan anchor biosynthesis class W ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 PMID:28492532 NCBI chr17:20,542,694...20,547,347
Ensembl chr17:20,837,769...20,839,283 		JBrowse link
G PITX2 paired like homeodomain 2 ISO RGD PMID:12975342 RGD:12910559 NCBI chr 4:103,112,624...103,137,356 JBrowse link
G PRMT1 protein arginine methyltransferase 1 ISO MouseDO NCBI chr19:46,691,795...46,705,179
Ensembl chr19:55,610,938...55,623,135 		JBrowse link
G PTCH1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453 		JBrowse link
G RARG retinoic acid receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21807577 NCBI chr12:35,521,276...35,542,814
Ensembl chr12:36,303,359...36,325,111 		JBrowse link
G RERE arginine-glutamic acid dipeptide repeats ISO RGD PMID:33772547 RGD:329849004 NCBI chr 1:7,111,594...7,576,667
Ensembl chr 1:8,351,367...8,648,973 		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 chr 9:62,782,183...63,005,626
Ensembl chr 9:90,851,983...90,965,084 		JBrowse link
G RYK receptor like tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10932185 NCBI chr 3:131,174,507...131,296,815 JBrowse link
G SATB2 SATB homeobox 2 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:17377962 PMID:23925499 PMID:24301056 PMID:25741868 PMID:25885067 More... NCBI chr2B:86,518,043...86,720,212
Ensembl chr2B:204,406,887...204,599,539 		JBrowse link
G SDC2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 8:93,118,379...93,230,803
Ensembl chr 8:95,314,910...95,428,519 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:17097601 RGD:12801424 NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651 		JBrowse link
G SHOX2 SHOX homeobox 2 ISO RGD PMID:16141225 RGD:12859081 NCBI chr 3:155,138,969...155,149,619
Ensembl chr 3:163,190,284...163,199,239 		JBrowse link
G SIM2 SIM bHLH transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12203729 NCBI chr21:23,060,640...23,109,496 JBrowse link
G SIX2 SIX homeobox 2 ISO MouseDO NCBI chr2A:45,109,414...45,113,887
Ensembl chr2A:46,039,582...46,044,035 		JBrowse link
G SLC19A1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr21:31,836,774...31,883,829
Ensembl chr21:45,090,595...45,134,752 		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:33461977 NCBI chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952 		JBrowse link
G SOX3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:129,654,296...129,656,446 JBrowse link
G SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like ISO MouseDO NCBI chr22:5,078,435...5,224,090
Ensembl chr22:21,943,630...22,089,686 		JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr13:61,569,658...61,574,817
Ensembl chr13:80,596,346...80,597,408 		JBrowse link
G SUMO1 small ubiquitin like modifier 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16990542 NCBI chr2B:89,461,773...89,493,879
Ensembl chr2B:207,613,654...207,645,590 		JBrowse link
G TBX1 T-box transcription factor 1 ISO RGD PMID:25556186 PMID:30121012 RGD:155631306 RGD:155641231 NCBI chr22:2,521,080...2,541,267 JBrowse link
G TBX22 T-box transcription factor 22 ISO cleft palate with ankyloglossia, OMIM:303400 RGD PMID:12374769 RGD:724722 NCBI chr  X:69,070,218...69,087,243
Ensembl chr  X:79,177,534...79,198,782 		JBrowse link
G TENM4 teneurin transmembrane protein 4 ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr11:73,712,808...75,001,831
Ensembl chr11:77,338,422...77,743,909 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973 		JBrowse link
G TGFB2 transforming growth factor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr 1:193,907,398...194,005,800
Ensembl chr 1:198,758,751...198,859,041 		JBrowse link
G TGFB3 transforming growth factor beta 3 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:7493022 PMID:17097601 PMID:26971374 RGD:12801424 NCBI chr14:56,516,697...56,542,097
Ensembl chr14:75,359,505...75,382,412 		JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 NCBI chr 1:141,159,657...141,201,018
Ensembl chr 1:144,944,105...144,989,794 		JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chr17:34,321,121...34,355,020
Ensembl chr17:39,252,858...39,292,053 		JBrowse link
G TP63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11462173 NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104 		JBrowse link
G TYMS thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr18:13,653,085...13,668,478
Ensembl chr18:17,295,182...17,310,320 		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:69,070,218...69,087,243
Ensembl chr  X:79,177,534...79,198,782 		JBrowse link
cleft palate, cardiac defects, and intellectual disabillity 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 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24678003 PMID:25712757 PMID:25741868 More... NCBI chr15:15,814,739...16,025,512
Ensembl chr15:34,072,665...34,282,477 		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 chr11:71,708,222...71,721,426
Ensembl chr11:75,354,997...75,367,440 		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 1:22,205,624...22,269,571
Ensembl chr 1:23,153,066...23,217,692 		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 ISO OMIM:119550 MouseDO NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752 		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 3:143,091,833...143,181,831
Ensembl chr 3:150,675,424...150,764,939 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO OMIM:119570 MouseDO NCBI chr 3:30,536,187...30,623,653
Ensembl chr 3:30,854,460...30,938,856 		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 ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239 		JBrowse link
G ARID1B AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability | ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:154,581,148...155,018,706 JBrowse link
G KDM8 lysine demethylase 8 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 Ensembl chr16:27,577,230...27,595,164 JBrowse link
G SMARCA2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 ISO ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability ClinVar PMID:18414213 PMID:28512736 NCBI chr 9:1,818,004...1,997,652
Ensembl chr 9:2,013,237...2,189,409 		JBrowse link
G SMARCA4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:15756273 PMID:18414213 PMID:18437052 PMID:21280140 PMID:24448499 More... NCBI chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952 		JBrowse link
G SMARCB1 SWI/SNF related BAF chromatin remodeling complex subunit B1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:10521299 PMID:16199547 PMID:21108436 PMID:21208904 PMID:22726846 More... NCBI chr22:4,542,764...4,589,461
Ensembl chr22:22,627,982...22,673,921 		JBrowse link
G SMARCE1 SWI/SNF related BAF chromatin remodeling complex subunit E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22426308 NCBI chr17:16,633,982...16,660,502
Ensembl chr17:16,860,400...16,884,946 		JBrowse link
G SOX11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 PMID:26543203 NCBI chr2A:5,699,738...5,711,210 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: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 ClinVar PMID:22426308 PMID:25168959 PMID:25741868 PMID:28492532 NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239 		JBrowse link
G ARID1B AT-rich interaction domain 1B ISO 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
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		 PMID:9536098 PMID:10361086 PMID:15057123 PMID:16199547 PMID:17576681 More... NCBI chr 6:154,581,148...155,018,706 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... Ensembl chr  X:2,858,431...2,919,756 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 chr19:44,600,696...44,697,643
Ensembl chr19:53,323,064...53,350,987 		JBrowse link
G DPF2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 PMID:29429572 NCBI chr11:60,698,580...60,717,800
Ensembl chr11:64,037,108...64,055,727 		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 9:1,818,004...1,997,652
Ensembl chr 9:2,013,237...2,189,409 		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 chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952 		JBrowse link
G SOX4 SRY-box transcription factor 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 NCBI chr 6:21,422,846...21,427,779 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 chr 6:21,422,846...21,427,779 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 chr12:38,655,236...38,670,618
Ensembl chr12:39,552,155...39,567,804 		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 NCBI chr19:44,600,696...44,697,643
Ensembl chr19:53,323,064...53,350,987 		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 chr19:35,742,758...35,825,321
Ensembl chr19:44,313,569...44,395,508 		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 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239 		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 chr 8:21,359,348...21,378,315
Ensembl chr 8:18,298,709...18,316,151 		JBrowse link
Coffin-Siris syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DERL3 derlin 3 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chr22:4,589,448...4,594,628
Ensembl chr22:22,673,908...22,678,444 		JBrowse link
G MMP11 matrix metallopeptidase 11 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chr22:4,528,639...4,540,118
Ensembl chr22:22,615,969...22,624,567 		JBrowse link
G SLC2A11 solute carrier family 2 member 11 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chr22:4,609,422...4,638,903
Ensembl chr22:22,693,639...22,723,223 		JBrowse link
G SMARCB1 SWI/SNF related BAF chromatin remodeling complex subunit B1 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 OMIM
ClinVar		 PMID:11161377 PMID:22426308 PMID:22726846 PMID:23196062 PMID:23637025 More... NCBI chr22:4,542,764...4,589,461
Ensembl chr22:22,627,982...22,673,921 		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:16199547 PMID:17576681 More... NCBI chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952 		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 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 5 ClinVar
OMIM		 PMID:22426308 PMID:23906836 PMID:25741868 PMID:28492532 NCBI chr17:16,633,982...16,660,502
Ensembl chr17:16,860,400...16,884,946 		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 chr12:42,823,236...43,004,465
Ensembl chr12:43,692,914...43,871,564 		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 chr 7:92,706,546...92,721,574
Ensembl chr 7:106,105,660...106,117,844 		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 chr11:60,698,580...60,717,800
Ensembl chr11:64,037,108...64,055,727 		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 chr12:32,726,150...32,753,366
Ensembl chr12:32,977,879...33,004,144 		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 chr2A:5,699,738...5,711,210 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 TUBB tubulin beta 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 chr 6:30,465,367...30,470,451 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 chr18:28,201,711...28,367,813
Ensembl chr18:31,817,015...31,956,771 		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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr  X:59,401,426...59,434,363
Ensembl chr  X:69,460,734...69,493,616 		JBrowse link
Craniomandibular Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZMPSTE24 zinc metallopeptidase STE24 ISO RGD PMID:19014358 RGD:10043096 NCBI chr 1:39,545,264...39,589,721
Ensembl chr 1:40,869,076...40,912,747 		JBrowse link
craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKH ANKH inorganic pyrophosphate transport regulator ISO OMIM:122860 | OMIM:123000 | OMIM:218300 | OMIM:218400 | OMIM:614099 | OMIM:614378 MouseDO NCBI chr 5:15,014,019...15,175,467
Ensembl chr 5:14,855,914...14,917,729 		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: Gordon syndrome OMIM
ClinVar		 PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27653382 More... NCBI chr18:3,141,285...3,619,885
Ensembl chr18:5,407,467...5,882,928 		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 ISO ClinVar Annotator: match by term: EEC SYNDROME 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 OMIM
ClinVar		 PMID:8737655 PMID:9028452 PMID:9443880 PMID:9536098 PMID:10535733 More... NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104 		JBrowse link
EEC syndrome 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: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome ClinVar PMID:8737655 PMID:9443880 PMID:9536098 PMID:10535733 PMID:10839977 More... NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104 		JBrowse link
Familial Cystic Parathyroid Adenomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDC73 cell division cycle 73 ISO ClinVar Annotator: match by term: Cystic parathyroid adenoma ClinVar PMID:12434154 NCBI chr 1:168,581,730...168,710,915
Ensembl chr 1:172,875,365...173,004,934 		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 ClinVar Annotator: match by term: ALX1-related condition | ClinVar Annotator: match by term: Frontonasal dysplasia 3 OMIM
ClinVar		 PMID:20451171 PMID:24467814 PMID:25741868 PMID:27324866 PMID:28492532 NCBI chr12:82,800,273...82,822,031
Ensembl chr12:85,902,113...85,923,774 		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 ClinVar
OMIM		 PMID:36282599 PMID:36299998 NCBI chr 7:23,501,438...23,511,321
Ensembl chr 7:23,112,630...23,122,195 		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 ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia | ClinVar Annotator: match by term: Osteogenesis imperfecta with unusual skeletal lesions OMIM
ClinVar		 PMID:3530687 PMID:5816667 PMID:9536098 PMID:9673985 PMID:15124103 More... NCBI chr11:22,201,694...22,295,781
Ensembl chr11:22,112,482...22,206,637 		JBrowse link
G FANCF FA complementation group F ISO ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia ClinVar PMID:28492532 NCBI chr11:22,634,301...22,637,885
Ensembl chr11:22,544,052...22,545,176 		JBrowse link
G SLC17A6 solute carrier family 17 member 6 ISO ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia ClinVar PMID:28492532 NCBI chr11:22,350,537...22,392,009
Ensembl chr11:22,258,011...22,301,944 		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 | ClinVar Annotator: match by term: Hardikar syndrome OMIM
ClinVar		 PMID:9286458 PMID:20301719 PMID:24728327 PMID:25741868 PMID:28492532 More... NCBI chr  X:60,386,820...60,410,730
Ensembl chr  X:70,443,667...70,466,942 		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: Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate OMIM
ClinVar		 PMID:11173846 PMID:14513299 PMID:15605412 PMID:15793702 PMID:16757108 More... NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904 		JBrowse link
Hyperparathyroidism 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT2 beta-1,3-galactosyltransferase 2 ISO ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors ClinVar PMID:25637381 NCBI chr 1:168,638,291...168,645,893
Ensembl chr 1:172,928,889...172,934,683 		JBrowse link
G CDC73 cell division cycle 73 ISO ClinVar Annotator: match by term: Hyperparathyroidism 2 | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors OMIM
ClinVar		 PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 More... NCBI chr 1:168,581,730...168,710,915
Ensembl chr 1:172,875,365...173,004,934 		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 chr 6:105,302,531...105,472,674
Ensembl chr 6:109,168,069...109,337,549 		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 1:96,835,259...96,910,999
Ensembl chr 1:95,561,933...95,640,214 		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 1:23,519,911...23,558,105
Ensembl chr 1:24,502,294...24,547,152 		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 chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097 		JBrowse link
G SATB2 SATB homeobox 2 ISO ClinVar Annotator: match by term: Isolated cleft palate ClinVar PMID:25326635 PMID:25533962 PMID:25741868 PMID:25885067 PMID:26596517 More... NCBI chr2B:86,518,043...86,720,212
Ensembl chr2B:204,406,887...204,599,539 		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 chr14:37,370,926...37,381,610
Ensembl chr14:55,641,349...55,651,012 		JBrowse link
G PCSK5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 9:48,480,607...48,943,331
Ensembl chr 9:74,745,761...75,220,502 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770608 NCBI chr19:47,347,919...47,381,772
Ensembl chr19:56,251,356...56,297,611 		JBrowse link
G SMO smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16580747 NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048 		JBrowse link
G TWSG1 twisted gastrulation BMP signaling modulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15013800 NCBI chr18:4,883,688...4,950,963
Ensembl chr18:7,164,091...7,229,271 		JBrowse link
Jaw Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLAU plasminogen activator, urokinase severity ISO protein:increased expression:cyst, liquid (human) RGD PMID:20646237 RGD:6484123 NCBI chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136 		JBrowse link
Jaw Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO RGD PMID:17360473 RGD:1601201 NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709 		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 chr2B:10,836,356...10,987,683
Ensembl chr2B:153,235,329...153,387,221 		JBrowse link
G MYH10 myosin heavy chain 10 ISO ClinVar Annotator: match by term: Jaw-winking syndrome ClinVar PMID:25741868 NCBI chr17:43,023,922...43,180,159
Ensembl chr17:47,761,322...47,911,192 		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 chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752 		JBrowse link
Kniest dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Kniest dysplasia OMIM
ClinVar		 PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 More... NCBI chr12:40,726,137...40,757,690 JBrowse link
Larsen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAMK2A calcium/calmodulin dependent protein kinase II alpha ISO ClinVar Annotator: match by term: Larsen syndrome, dominant type ClinVar PMID:25741868 NCBI chr 5:145,644,164...145,714,143
Ensembl chr 5:151,649,062...151,719,373 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 ISO ClinVar Annotator: match by term: Larsen syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr10:68,427,305...68,476,512
Ensembl chr10:70,951,190...70,994,936 		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 chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692 		JBrowse link
G FLNB filamin B ISO ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders | ClinVar Annotator: match by term: Larsen syndrome | ClinVar Annotator: match by term: Larsen syndrome, dominant type OMIM
ClinVar		 PMID:9536098 PMID:14991055 PMID:16648377 PMID:16752402 PMID:16801345 More... NCBI chr 3:57,943,263...58,107,115
Ensembl chr 3:59,359,234...59,521,989 		JBrowse link
Mandibular Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMP2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19070762 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12913070 NCBI chr 1:39,545,264...39,589,721
Ensembl chr 1:40,869,076...40,912,747 		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:9536098 PMID:17576681 PMID:23770608 PMID:24033266 PMID:25529843 More... NCBI chr19:47,347,919...47,381,772
Ensembl chr19:56,251,356...56,297,611 		JBrowse link
Mandibular Neoplasms 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 CTD PMID:24859340 NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115 		JBrowse link
G CTNNB1 catenin beta 1 ISO mRNA:increased expression:small intestine RGD PMID:17259108 RGD:1599632 NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030 		JBrowse link
G DEFB1 defensin beta 1 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:11934727 RGD:4892265 NCBI chr 8:403,268...410,712
Ensembl chr 8:6,874,235...6,881,631 		JBrowse link
Maxillary Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMP2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19070762 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279 		JBrowse link
Maxillary Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMO smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048 		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 ISO OMIM:224690 | OMIM:613800 | OMIM:613803 | OMIM:613804 | OMIM:613805 MouseDO NCBI chr 6:55,302,721...55,425,248
Ensembl chr 6:56,936,850...57,059,519 		JBrowse link
G CDC45 cell division cycle 45 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr22:2,239,040...2,279,807
Ensembl chr22:17,913,729...17,955,195 		JBrowse link
G CDC6 cell division cycle 6 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:28492532 NCBI chr17:16,987,721...17,002,488
Ensembl chr17:17,211,681...17,225,972 		JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:11992493 PMID:21358632 PMID:22333897 PMID:23023959 PMID:24033266 More... NCBI chr16:69,516,728...69,522,419
Ensembl chr16:89,174,071...89,177,823 		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 chr21:19,944,692...19,956,140
Ensembl chr21:33,317,841...33,328,132 		JBrowse link
G GMNN geminin DNA replication inhibitor ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:11477602 PMID:14973488 PMID:26637980 NCBI chr 6:24,612,864...24,624,010
Ensembl chr 6:24,944,377...24,955,575 		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 6:51,816,615...51,837,404
Ensembl chr 6:53,085,231...53,105,344 		JBrowse link
G MCM7 minichromosome maintenance complex component 7 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 PMID:33654309 NCBI chr 7:92,128,037...92,136,976
Ensembl chr 7:105,561,591...105,570,720 		JBrowse link
G ORC1 origin recognition complex subunit 1 ISO ClinVar Annotator: match by term: EAR, PATELLA, SHORT STATURE SYNDROME | ClinVar Annotator: match by term: Meier-Gorlin syndrome | ClinVar Annotator: match by term: Microtia, absent patellae, micrognathia syndrome ClinVar PMID:819054 PMID:11477602 PMID:14564153 PMID:21358631 PMID:21358632 More... NCBI chr 1:51,630,344...51,666,327
Ensembl chr 1:53,238,377...53,273,653 		JBrowse link
G ORC4 origin recognition complex subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358631 PMID:21358632 NCBI chr2B:11,841,808...11,931,620
Ensembl chr2B:152,292,822...152,379,487 		JBrowse link
G ORC6 origin recognition complex subunit 6 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 NCBI chr16:26,954,596...26,962,780
Ensembl chr16:45,846,747...45,854,836 		JBrowse link
G VPS35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 NCBI chr16:26,924,901...26,954,443
Ensembl chr16:45,817,371...45,846,531 		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 NCBI chr21:19,944,692...19,956,140
Ensembl chr21:33,317,841...33,328,132 		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 chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815 		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 1:51,630,344...51,666,327
Ensembl chr 1:53,238,377...53,273,653 		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 chr2B:11,841,808...11,931,620
Ensembl chr2B:152,292,822...152,379,487 		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:16199547 PMID:17576681 PMID:18414213 More... NCBI chr16:26,954,596...26,962,780
Ensembl chr16:45,846,747...45,854,836 		JBrowse link
G VPS35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 3 ClinVar PMID:25741868 NCBI chr16:26,924,901...26,954,443
Ensembl chr16:45,817,371...45,846,531 		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 chr16:69,516,728...69,522,419
Ensembl chr16:89,174,071...89,177,823 		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 NCBI chr17:16,987,721...17,002,488
Ensembl chr17:17,211,681...17,225,972 		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 chr 6:24,612,864...24,624,010
Ensembl chr 6:24,944,377...24,955,575 		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 chr22:2,239,040...2,279,807
Ensembl chr22:17,913,729...17,955,195 		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 chr22:16,407,145...16,431,822
Ensembl chr22:34,249,831...34,274,423 		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 chr12:64,357,176...64,500,358
Ensembl chr12:66,960,888...67,102,496 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 NCBI chr11:98,051,788...98,425,676
Ensembl chr11:101,536,471...101,909,194 		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 9:107,502,838...107,516,325
Ensembl chr 9:136,483,144...136,492,731 		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:143,571,864...143,647,192
Ensembl chr  X:153,465,204...153,527,854 		JBrowse link
G NOG noggin ISO DNA:SNP:rs1348322(human) RGD PMID:20645637 RGD:12801465 NCBI chr17:50,669,186...50,671,081
Ensembl chr17:55,532,394...55,533,092 		JBrowse link
G PGAP2 post-GPI attachment to proteins 2 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 NCBI chr11:3,669,523...3,697,565
Ensembl chr11:3,782,786...3,810,678 		JBrowse link
G PITX1 paired like homeodomain 1 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 NCBI chr 5:130,422,920...130,429,828
Ensembl chr 5:136,565,285...136,570,350 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 NCBI chr19:47,347,919...47,381,772
Ensembl chr19:56,251,356...56,297,611 		JBrowse link
G RAB5IF RAB5 interacting factor ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:24194475 PMID:35614220 NCBI chr20:32,938,953...32,945,648
Ensembl chr20:34,059,109...34,065,624 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 NCBI chr 1:125,268,113...125,273,405
Ensembl chr 1:128,924,317...128,929,610 		JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chr17:34,321,121...34,355,020
Ensembl chr17:39,252,858...39,292,053 		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 HOXA1 homeobox A1 ISO ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate ClinVar PMID:25741868 NCBI chr 7:27,737,432...27,740,442
Ensembl chr 7:27,335,710...27,339,747 		JBrowse link
G HOXA2 homeobox A2 ISO ClinVar Annotator: match by term: Microtia with or without hearing impairment | ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate OMIM
ClinVar		 PMID:18394579 PMID:23775976 PMID:25691070 PMID:25741868 NCBI chr 7:27,745,138...27,747,129
Ensembl chr 7:27,344,469...27,346,789 		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 TUBB tubulin beta class I ISO ClinVar Annotator: match by term: CIRCUMFERENTIAL SKIN CREASES, KUNZE TYPE | ClinVar Annotator: match by term: Kunze Riehm syndrome ClinVar PMID:23246003 PMID:24833723 PMID:25741868 PMID:26637975 PMID:29671837 More... NCBI chr 6:30,465,367...30,470,451 JBrowse link
Native American myopathy 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 7:130,665,997...130,758,537
Ensembl chr 7:143,154,712...143,218,802 		JBrowse link
G INSR insulin receptor ISO ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia ClinVar PMID:2040394 PMID:8432414 PMID:8900242 PMID:10084586 PMID:11463381 More... NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889 		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: CONGENITAL MYOPATHY 13 | ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23736855 PMID:25741868 More... NCBI chr12:31,674,537...31,683,917
Ensembl chr12:31,928,955...31,936,251 		JBrowse link
NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBXW11 F-box and WD repeat domain containing 11 ISO ClinVar Annotator: match by term: FBXW11-related condition | ClinVar Annotator: match by term: Neurodevelopmental, jaw, eye, and digital syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31402090 NCBI chr 5:167,207,643...167,354,730
Ensembl chr 5:174,124,499...174,271,977 		JBrowse link
nevoid basal cell carcinoma syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AOPEP aminopeptidase O (putative) ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr 9:65,825,138...66,188,001
Ensembl chr 9:93,986,951...94,311,201 		JBrowse link
G ARL3 ARF like GTPase 3 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr10:99,271,620...99,312,784
Ensembl chr10:102,735,325...102,775,849 		JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr10:99,431,762...99,439,619
Ensembl chr10:102,896,376...102,901,514 		JBrowse link
G FANCC FA complementation group C ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:16301862 PMID:16419085 PMID:17703323 PMID:17924555 PMID:22382802 More... NCBI chr 9:66,201,581...66,418,229
Ensembl chr 9:94,329,971...94,477,198 		JBrowse link
G GLI1 GLI family zinc finger 1 ISO RGD PMID:15308259 RGD:12801443 NCBI chr12:31,453,759...31,466,194
Ensembl chr12:31,710,057...31,722,473 		JBrowse link
G GLI2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16936257 NCBI chr2B:7,665,403...7,922,840
Ensembl chr2B:121,303,831...121,497,442 		JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome | ClinVar Annotator: match by term: Gorlin-Goltz Syndrome
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome | ClinVar Annotator: match by term: MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES		 ClinVar PMID:1347096 PMID:1850296 PMID:8302318 PMID:8658145 PMID:8681379 More... NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453 		JBrowse link
G PTCH2 patched 2 ISO ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18285427 PMID:23951062 More... NCBI chr 1:44,125,693...44,147,462
Ensembl chr 1:45,490,789...45,513,055 		JBrowse link
G PTH parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:24803734 NCBI chr11:13,653,777...13,657,901
Ensembl chr11:13,347,838...13,351,802 		JBrowse link
G SFXN2 sideroflexin 2 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr10:99,312,883...99,341,931
Ensembl chr10:102,775,965...102,801,323 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD
MouseDO		 PMID:9115210 RGD:12802345 NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651 		JBrowse link
G SMO smoothened, frizzled class receptor ISO RGD PMID:15308259 RGD:12801443 NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome		 ClinVar PMID:9536098 PMID:12068298 PMID:16199547 PMID:17102621 PMID:17576681 More... NCBI chr10:99,107,516...99,231,761
Ensembl chr10:102,571,886...102,696,472 		JBrowse link
G TRIM8 tripartite motif containing 8 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr10:99,242,187...99,256,342
Ensembl chr10:102,707,199...102,720,565 		JBrowse link
G WBP1L WW domain binding protein 1 like ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr10:99,342,361...99,417,504
Ensembl chr10:102,806,022...102,880,936 		JBrowse link
nevoid basal cell carcinoma syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Basal cell nevus syndrome 1 OMIM
ClinVar		 PMID:8658145 PMID:8681379 PMID:12900905 PMID:16199547 PMID:16301862 More... NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453 		JBrowse link
G PTCH2 patched 2 ISO ClinVar Annotator: match by term: Basal cell nevus syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:44,125,693...44,147,462
Ensembl chr 1:45,490,789...45,513,055 		JBrowse link
nevoid basal cell carcinoma syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SUFU SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Basal cell nevus syndrome 2 | ClinVar Annotator: match by term: NEVOID BASAL CELL CARCINOMA SYNDROME 2 ClinVar
OMIM		 PMID:12068298 PMID:19533801 PMID:19833601 PMID:21188540 PMID:22508808 More... NCBI chr10:99,107,516...99,231,761
Ensembl chr10:102,571,886...102,696,472 		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 chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671 		JBrowse link
G CDC42 cell division cycle 42 ISO ClinVar Annotator: match by term: Noonan-like syndrome ClinVar PMID:25741868 PMID:29394990 NCBI chr 1:21,245,970...21,286,210 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 chr19:39,135,757...39,143,343
Ensembl chr19:47,728,192...47,735,808 		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 chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762 		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 chr2A:39,019,046...39,162,248
Ensembl chr2A:39,773,760...39,911,961 		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:31024343 NCBI chr 8:97,560,251...97,595,117
Ensembl chr 8:99,730,393...99,762,990 		JBrowse link
Noonan syndrome-like disorder with loose anagen hair term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SHOC2 SHOC2 leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: Noonan-like syndrome with loose anagen hair ClinVar PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 More... NCBI chr10:107,512,795...107,606,627
Ensembl chr10:110,993,556...111,055,312 		JBrowse link
Noonan syndrome-like disorder with loose anagen hair 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SHOC2 SHOC2 leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: MAZZANTI SYNDROME | ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 1 | ClinVar Annotator: match by term: SHOC2-related condition | ClinVar Annotator: match by term: TOSTI SYNDROME OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19684605 PMID:20882035 More... NCBI chr10:107,512,795...107,606,627
Ensembl chr10:110,993,556...111,055,312 		JBrowse link
Noonan syndrome-like disorder with loose anagen hair 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPP1CB protein phosphatase 1 catalytic subunit beta ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 2 | ClinVar Annotator: match by term: PPP1CB-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:25741869 PMID:27264673 PMID:27681385 More... NCBI chr2A:28,758,176...28,809,561
Ensembl chr2A:28,862,083...28,889,401 		JBrowse link
Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia 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: CBL SYNDROME | ClinVar Annotator: match by term: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17446348 PMID:17576681 PMID:18698078 More... NCBI chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia ClinVar PMID:11992261 PMID:12058348 PMID:12161596 PMID:14634749 PMID:15121796 More... NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762 		JBrowse link
oblique facial clefting 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like ISO ClinVar Annotator: match by term: Oblique facial clefts | ClinVar Annotator: match by term: Oculomaxillofacial dysostosis OMIM
ClinVar		 PMID:21703590 PMID:25741868 PMID:28492532 NCBI chr22:5,078,435...5,224,090
Ensembl chr22:21,943,630...22,089,686 		JBrowse link
Odontogenic Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMAD4 SMAD family member 4 ISO RGD PMID:19703995 RGD:12880040 NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359 		JBrowse link
Opitz GBBB syndrome 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: MID1-related condition | ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I OMIM
ClinVar		 PMID:9354791 PMID:9718340 PMID:11030761 PMID:12545276 PMID:15121778 More... NCBI chr  X:3,075,834...3,463,845
Ensembl chr  X:10,328,476...10,459,284 		JBrowse link
orofacial cleft term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSS2 acyl-CoA synthetase short chain family member 2 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip palate ClinVar PMID:25741868 PMID:27229527 NCBI chr20:31,205,104...31,256,263
Ensembl chr20:32,329,721...32,380,526 		JBrowse link
G AXIN2 axin 2 ISO DNA:SNP:cds:rs2240308(p.P50S)(human) RGD PMID:19119171 RGD:151356509 NCBI chr17:59,476,336...59,509,358
Ensembl chr17:64,688,416...64,720,086 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:25741868 NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752 		JBrowse link
G CDH1 cadherin 1 ISO ClinVar Annotator: match by term: Cleft lip/palate | ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:2449335 PMID:12800196 PMID:20921021 PMID:22470475 PMID:23197654 More... NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488 		JBrowse link
G CEP70 centrosomal protein 70 ISO ClinVar Annotator: match by term: Median cleft lip and palate ClinVar PMID:19254375 PMID:25741868 PMID:31680349 NCBI chr 3:135,525,035...135,625,533
Ensembl chr 3:142,974,810...143,228,835 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Orofacial clefting ClinVar PMID:25741868 NCBI chr  X:143,799,088...143,825,282 JBrowse link
G FST follistatin ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:31215115 NCBI chr 5:60,544,495...60,550,516 JBrowse link
G GDF11 growth differentiation factor 11 ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:31215115 NCBI chr12:33,154,530...33,168,427
Ensembl chr12:33,879,180...33,893,252 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 no_association ISO DNA:deletion: : (human) RGD PMID:11471167 RGD:12792251 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G HKDC1 hexokinase domain containing 1 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip palate ClinVar PMID:25741868 PMID:27229527 NCBI chr10:65,687,378...65,734,281
Ensembl chr10:68,220,475...68,267,321 		JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 susceptibility ISO DNA:SNP:exon:rs1450425 (human) RGD PMID:27242896 RGD:13204730 NCBI chr18:39,756,531...39,936,317
Ensembl chr18:43,290,579...43,469,921 		JBrowse link
G LRP6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:22813217 PMID:23806086 PMID:26963285 NCBI chr12:12,121,411...12,288,590
Ensembl chr12:12,508,108...12,657,973 		JBrowse link
G MEIS2 Meis homeobox 2 ISO DNA:mutations, haplotype insufficiency: : RGD PMID:24678003 RGD:155598680 NCBI chr15:15,814,739...16,025,512
Ensembl chr15:34,072,665...34,282,477 		JBrowse link
G MSX1 msh homeobox 1 ISO OMIM:119530 | OMIM:600625 | OMIM:600757 | OMIM:602966 | OMIM:608371 | OMIM:608864 | OMIM:608874 | OMIM:610361 | OMIM:612858 | OMIM:613705 | OMIM:613857 | OMIM:615892 MouseDO Ensembl chr 4:4,935,600...4,939,079 JBrowse link
G MYH9 myosin heavy chain 9 ISO DNA:SNPs: :rs2269529, rs3752462, rs16996652 (human)
DNA:SNPs: :rs3752462, rs2009930 (human)
DNA:SNP, haplotype: :rs7078 (human)		 RGD PMID:17337617 PMID:18716610 PMID:19320731 PMID:19891592 RGD:12798509 RGD:12798511 RGD:12798512 RGD:12798514 NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618 		JBrowse link
G NDST1 N-deacetylase and N-sulfotransferase 1 ISO ClinVar Annotator: match by term: Cleft lip/palate ClinVar PMID:25741868 NCBI chr 5:145,910,993...145,982,933
Ensembl chr 5:151,936,357...151,986,668 		JBrowse link
G PHYH phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip palate ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25133751 PMID:25741868 More... NCBI chr10:13,277,804...13,300,115
Ensembl chr10:13,251,223...13,636,018 		JBrowse link
G SMARCE1 SWI/SNF related BAF chromatin remodeling complex subunit E1 ISO ClinVar Annotator: match by term: Facial cleft ClinVar PMID:25741868 NCBI chr17:16,633,982...16,660,502
Ensembl chr17:16,860,400...16,884,946 		JBrowse link
G TBX22 T-box transcription factor 22 ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:25741868 NCBI chr  X:69,070,218...69,087,243
Ensembl chr  X:79,177,534...79,198,782 		JBrowse link
G TFAP2A transcription factor AP-2 alpha ISO OMIM:119530 | OMIM:600625 | OMIM:600757 | OMIM:602966 | OMIM:608371 | OMIM:608864 | OMIM:608874 | OMIM:610361 | OMIM:612858 | OMIM:613705 | OMIM:613857 | OMIM:615892 MouseDO NCBI chr 6:10,237,834...10,260,843 JBrowse link
G VWA8 von Willebrand factor A domain containing 8 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip palate ClinVar PMID:25741868 PMID:27229527 NCBI chr13:22,750,083...23,142,860
Ensembl chr13:41,339,379...41,729,661 		JBrowse link
orofacial cleft 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTSL1 ADAMTS like 1 ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chr 9:17,714,454...18,724,606
Ensembl chr 9:18,807,435...19,218,181 		JBrowse link
G CDH11 cadherin 11 ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chr16:45,261,269...45,436,597
Ensembl chr16:64,367,862...64,475,028 		JBrowse link
G COL2A1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:24664531 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr12:40,726,137...40,757,690 JBrowse link
G FGF10 fibroblast growth factor 10 ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chr 5:65,979,443...66,069,314
Ensembl chr 5:71,028,187...71,111,706 		JBrowse link
G MAFB MAF bZIP transcription factor B ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chr20:37,023,988...37,027,446
Ensembl chr20:38,127,722...38,128,693 		JBrowse link
G NECTIN2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21637507 NCBI chr19:41,794,037...41,837,047
Ensembl chr19:50,399,668...50,443,024 		JBrowse link
G NIPBL NIPBL cohesin loading factor ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:73,306,527...73,491,367
Ensembl chr 5:78,585,649...78,698,184 		JBrowse link
G NTN1 netrin 1 ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chr17:42,409,797...42,631,930
Ensembl chr17:47,152,225...47,368,134 		JBrowse link
G PVR PVR cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21637507 NCBI chr19:41,592,042...41,614,397
Ensembl chr19:50,196,980...50,217,006 		JBrowse link
G RUNX2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chr 6:45,003,962...45,133,148
Ensembl chr 6:46,189,432...46,524,389 		JBrowse link
G RYK receptor like tyrosine kinase ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar NCBI chr 3:131,174,507...131,296,815 JBrowse link
G TAF1B TATA-box binding protein associated factor, RNA polymerase I subunit B ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chr2A:9,834,385...9,927,129
Ensembl chr2A:9,996,146...10,087,740 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:18414213 PMID:22335739 PMID:23975875 PMID:25589632 PMID:25741868 More... NCBI chr2B:65,783,512...66,064,618 JBrowse link
orofacial cleft 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IRF6 interferon regulatory factor 6 ISO ClinVar Annotator: match by term: Orofacial cleft 10 ClinVar PMID:26346622 PMID:27834299 PMID:28762674 PMID:28762675 PMID:28762676 NCBI chr 1:185,361,612...185,382,516
Ensembl chr 1:190,226,727...190,247,145 		JBrowse link
G SUMO1 small ubiquitin like modifier 1 ISO ClinVar Annotator: match by term: Orofacial cleft 10 OMIM
ClinVar		 PMID:25741868 NCBI chr2B:89,461,773...89,493,879
Ensembl chr2B:207,613,654...207,645,590 		JBrowse link
orofacial cleft 11 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: BMP4-related condition | ClinVar Annotator: match by term: CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 11 | ClinVar Annotator: match by term: Orofacial cleft 11 OMIM
ClinVar		 PMID:12404109 PMID:18252212 PMID:18305125 PMID:18771417 PMID:19249007 More... NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752 		JBrowse link
orofacial cleft 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLX4 distal-less homeobox 4 ISO ClinVar Annotator: match by term: DLX4-related condition | ClinVar Annotator: match by term: Orofacial cleft 15 OMIM
ClinVar		 PMID:25741868 PMID:25954033 PMID:28492532 NCBI chr17:44,055,326...44,061,687
Ensembl chr17:48,929,684...48,935,066 		JBrowse link
orofacial cleft 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSX1 msh homeobox 1 ISO ClinVar Annotator: match by term: Orofacial cleft 5 OMIM
ClinVar		 PMID:12807959 PMID:15354328 PMID:16327884 PMID:16868654 PMID:21448236 More... Ensembl chr 4:4,935,600...4,939,079 JBrowse link
orofacial cleft 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IRF6 interferon regulatory factor 6 ISO ClinVar Annotator: match by term: Orofacial cleft 6, susceptibility to OMIM
ClinVar		 PMID:9536098 PMID:12219090 PMID:12920575 PMID:14618417 PMID:15317890 More... NCBI chr 1:185,361,612...185,382,516
Ensembl chr 1:190,226,727...190,247,145 		JBrowse link
orofacial cleft 7 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: Orofacial cleft 7 ClinVar PMID:10932188 PMID:11559849 PMID:32554531 NCBI chr11:114,497,177...114,565,338
Ensembl chr11:118,401,321...118,493,090 		JBrowse link
orofacial cleft 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: Orofacial cleft 8 OMIM
ClinVar		 PMID:9536098 PMID:16740912 PMID:17576681 PMID:24309930 PMID:25741868 More... NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104 		JBrowse link
otospondylomegaepiphyseal dysplasia, autosomal dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant | ClinVar Annotator: match by term: Pierre Robin syndrome with fetal chondrodysplasia OMIM
ClinVar		 PMID:7833911 PMID:7859284 PMID:9506662 PMID:9536098 PMID:9805126 More... NCBI chr 6:32,734,950...32,765,837
Ensembl chr 6:33,849,885...33,879,635 		JBrowse link
G COL2A1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant ClinVar PMID:25741868 NCBI chr12:40,726,137...40,757,690 JBrowse link
Periapical Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:20113782 RGD:8661683 NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312 		JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO RGD PMID:23829599 RGD:9491793 NCBI chr16:37,646,447...37,659,078
Ensembl chr16:56,779,065...56,791,760 		JBrowse link
G PDGFB platelet derived growth factor subunit B ISO RGD PMID:17509411 RGD:10449488 NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b ISO RGD PMID:21793936 RGD:7205516 NCBI chr 8:115,614,778...115,643,387
Ensembl chr 8:118,134,305...118,162,422 		JBrowse link
periapical granuloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCR2 C-C motif chemokine receptor 2 ISO mRNA:increased expression:gingiva: RGD PMID:16101967 RGD:8661719 NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312 		JBrowse link
G CCR3 C-C motif chemokine receptor 3 ISO RGD PMID:11683586 RGD:6893426 NCBI chr 3:46,147,928...46,172,947
Ensembl chr 3:47,253,878...47,278,630 		JBrowse link
periapical periodontitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL2 C-C motif chemokine ligand 2 ISO RGD PMID:24631631 RGD:8661717 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:24631631 RGD:8661717 NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312 		JBrowse link
G CIITA class II major histocompatibility complex transactivator ISO RGD PMID:20478458 RGD:7242892 NCBI chr16:9,819,440...9,885,379
Ensembl chr16:11,041,434...11,090,485 		JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 ISO RGD PMID:22341067 RGD:7257692 NCBI chr2B:105,387,198...105,400,533
Ensembl chr2B:223,997,066...223,998,148 		JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16631837 NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942 		JBrowse link
G IL17A interleukin 17A ISO protein:increased expression:Periapical Tissue RGD PMID:19166776 RGD:4832829 NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b treatment ISO Lactobacillus acidophilus RGD PMID:32436602 RGD:42721981 NCBI chr 8:115,614,778...115,643,387
Ensembl chr 8:118,134,305...118,162,422 		JBrowse link
Periodontal Cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL2 C-C motif chemokine ligand 2 ISO mRNA:increased expression:gingiva: RGD PMID:16101967 RGD:8661719 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO mRNA:increased expression:gingiva: RGD PMID:16101967 RGD:8661719 NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312 		JBrowse link
Periventricular Nodular Heterotopia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEDD4L NEDD4 like E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: NEDD4L-related condition | ClinVar Annotator: match by term: Periventricular nodular heterotopia 7 | ClinVar Annotator: match by term: Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay OMIM
ClinVar		 PMID:25741868 PMID:27694961 PMID:28492532 PMID:28515470 PMID:32117442 More... NCBI chr18:51,428,077...51,792,995
Ensembl chr18:54,867,149...55,123,423 		JBrowse link
Peters plus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GLCT beta 3-glucosyltransferase ISO ClinVar Annotator: match by term: Peters plus syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16909395 PMID:17576681 PMID:18199743 More... NCBI chr13:12,475,095...12,601,818
Ensembl chr13:30,927,270...31,035,719 		JBrowse link
G FGF8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Peters plus syndrome ClinVar PMID:25741868