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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:craniosynostosis
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Accession:DOID:2340 term browser browse the term
Definition:A synostosis that results_in premature fusion located_in skull. (DO)
Synonyms:exact_synonym: Acrocephaly;   Brachycephaly;   CRANIOSYNOSTOSIS 1;   CRS;   CRS1;   Craniostenosis;   Craniosynostose;   Craniosynostosis Plagiocephaly;   Craniosynostosis, nonsyndromic unicoronal;   Lambdoid Synostosis;   Lambdoidal Craniosynostosis;   Metopic Synostoses;   Metopic Synostosis;   Oxycephaly;   Sagittal Synostoses;   Sagittal Synostosis;   Scaphocephaly;   Synostotic Anterior Plagiocephaly;   Synostotic Plagiocephaly;   Synostotic Posterior Plagiocephaly;   craniostenoses;   craniosynostoses;   craniosynostoses type 1;   craniosynostosis type 1;   lambdoid synostoses;   lambdoidal craniosynostoses;   premature closure of cranial sutures;   trigonocephaly;   unilateral coronal synostoses;   unilateral coronal synostosis
 narrow_synonym: CRANIOSYNOSTOSIS, NONSPECIFIC;   FGFR2 RELATED CRANIOSYNOSTOSIS;   SYNDROMIC CRANIOSYNOSTOSIS
 primary_id: MESH:D003398
 alt_id: OMIA:001551;   OMIM:123100
 xref: EFO:0009141;   GARD:6209;   ICD10CM:Q75.0;   NCI:C84655;   OMIM:PS123100;   ORDO:1531
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
craniosynostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2310022A10Rik RIKEN cDNA 2310022A10 gene ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:27,252,482...27,281,524
Ensembl chr 7:27,252,658...27,281,524 		JBrowse link
G 2310057M21Rik RIKEN cDNA 2310057M21 gene ISO ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr 7:130,943,340...130,964,570
Ensembl chr 7:130,939,949...130,964,488 		JBrowse link
G 4933402N03Rik RIKEN cDNA 4933402N03 gene ISO ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr 7:130,740,076...130,748,012
Ensembl chr 7:130,739,442...130,748,043 		JBrowse link
G Acadsb acyl-Coenzyme A dehydrogenase, short/branched chain ISO ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr 7:131,012,330...131,047,940
Ensembl chr 7:131,012,330...131,050,673 		JBrowse link
G Actmap actin maturation protease ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:26,894,973...26,909,611
Ensembl chr 7:26,895,206...26,909,611 		JBrowse link
G Akt2 thymoma viral proto-oncogene 2 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:27,290,977...27,340,251
Ensembl chr 7:27,290,977...27,340,251 		JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Brachycephaly ClinVar PMID:25741868 NCBI chr11:69,016,243...69,039,941
Ensembl chr11:69,016,722...69,039,941 		JBrowse link
G Alx4 aristaless-like homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:93,472,779...93,511,686
Ensembl chr 2:93,472,729...93,511,684 		JBrowse link
G Arhgef1 Rho guanine nucleotide exchange factor (GEF) 1 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:24,601,762...24,626,019
Ensembl chr 7:24,602,337...24,626,019 		JBrowse link
G Ate1 arginyltransferase 1 ISO ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr 7:129,993,219...130,122,349
Ensembl chr 7:129,993,223...130,122,099 		JBrowse link
G Atp1a3 ATPase, Na+/K+ transporting, alpha 3 polypeptide ISO ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar PMID:28492532 NCBI chr 7:24,677,592...24,705,502
Ensembl chr 7:24,677,592...24,705,383 		JBrowse link
G Axin2 axin 2 IAGP
ISO		 OMIM:123100 | OMIM:182212 | OMIM:600593 | OMIM:600775 | OMIM:604757 | OMIM:615314 | OMIM:615529
ClinVar Annotator: match by term: Craniosynostosis		 MouseDO
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr11:108,808,687...108,841,609
Ensembl chr11:108,811,175...108,841,609 		JBrowse link
G Axl AXL receptor tyrosine kinase ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:25,455,925...25,488,502
Ensembl chr 7:25,456,698...25,488,130 		JBrowse link
G B3gnt8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:25,327,025...25,328,917
Ensembl chr 7:25,326,079...25,334,525 		JBrowse link
G B9d2 B9 protein domain 2 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:25,380,205...25,385,987
Ensembl chr 7:25,380,205...25,385,983 		JBrowse link
G Bbs9 Bardet-Biedl syndrome 9 (human) susceptibility ISO DNA:SNPs:introns:rs10262453,rs17724206,rs1884302(human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:23160099 PMID:23160099 RGD:9684995 NCBI chr 9:22,386,819...22,799,579
Ensembl chr 9:22,387,011...22,799,576 		JBrowse link
G Bckdha branched chain ketoacid dehydrogenase E1, alpha polypeptide ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:25,329,371...25,358,178
Ensembl chr 7:25,329,371...25,358,406 		JBrowse link
G Blvrb biliverdin reductase B (flavin reductase (NADPH)) ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:27,147,403...27,165,406
Ensembl chr 7:27,147,403...27,165,569 		JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23160099 NCBI chr 2:133,394,079...133,404,816
Ensembl chr 2:133,394,079...133,404,805 		JBrowse link
G Btbd16 BTB (POZ) domain containing 16 ISO ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr 7:130,375,799...130,427,631
Ensembl chr 7:130,375,799...130,427,629 		JBrowse link
G Ccdc97 coiled-coil domain containing 97 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:25,410,537...25,418,460
Ensembl chr 7:25,410,531...25,418,513 		JBrowse link
G Cd79a CD79A antigen (immunoglobulin-associated alpha) ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:24,596,922...24,601,283
Ensembl chr 7:24,596,806...24,601,622 		JBrowse link
G Ceacam10 CEA cell adhesion molecule 10 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:24,476,592...24,484,081
Ensembl chr 7:24,476,631...24,484,082 		JBrowse link
G Ceacam15 CEA cell adhesion molecule 15 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:16,405,256...16,409,630
Ensembl chr 7:16,405,256...16,409,630 		JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar PMID:28492532 NCBI chr 7:24,967,054...24,993,584
Ensembl chr 7:24,967,129...24,993,584 		JBrowse link
G Cnfn cornifelin ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:25,067,041...25,069,149
Ensembl chr 7:25,067,045...25,069,149 		JBrowse link
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:26,928,112...26,957,374
Ensembl chr 7:26,932,448...26,957,375 		JBrowse link
G Cuzd1 CUB and zona pellucida-like domains 1 ISO ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr 7:130,910,283...130,924,021
Ensembl chr 7:130,910,283...130,924,021 		JBrowse link
G Cyp2a4 cytochrome P450, family 2, subfamily a, polypeptide 4 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:26,006,617...26,014,513
Ensembl chr 7:26,006,594...26,014,513 		JBrowse link
G Cyp2a5 cytochrome P450, family 2, subfamily a, polypeptide 5 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:26,534,764...26,542,689
Ensembl chr 7:26,534,730...26,542,973 		JBrowse link
G Cyp2b10 cytochrome P450, family 2, subfamily b, polypeptide 10 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:25,597,083...25,626,049
Ensembl chr 7:25,597,045...25,626,049 		JBrowse link
G Cyp2f2 cytochrome P450, family 2, subfamily f, polypeptide 2 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:26,819,380...26,833,085
Ensembl chr 7:26,819,334...26,833,085 		JBrowse link
G Cyp2s1 cytochrome P450, family 2, subfamily s, polypeptide 1 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:25,501,894...25,515,950
Ensembl chr 7:25,501,900...25,516,338 		JBrowse link
G Dedd2 death effector domain-containing DNA binding protein 2 ISO ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar PMID:23354439 PMID:26097063 PMID:28492532 PMID:28808027 NCBI chr 7:24,899,337...24,920,035
Ensembl chr 7:24,899,340...24,920,040 		JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:27,992,980...28,001,210
Ensembl chr 7:27,992,978...28,001,663 		JBrowse link
G Dmac2 distal membrane arm assembly complex 2 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:25,318,839...25,324,975
Ensembl chr 7:25,318,839...25,324,976 		JBrowse link
G Dmbt1 deleted in malignant brain tumors 1 ISO ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr 7:130,633,787...130,723,357
Ensembl chr 7:130,633,776...130,723,357 		JBrowse link
G Dmrtc2 doublesex and mab-3 related transcription factor like family C2 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:24,569,242...24,577,080
Ensembl chr 7:24,569,482...24,577,076 		JBrowse link
G Dyrk1b dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1b ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:27,878,880...27,896,896
Ensembl chr 7:27,878,894...27,886,719 		JBrowse link
G Efnb1 ephrin B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15166289 NCBI chr  X:98,179,667...98,192,628
Ensembl chr  X:98,179,736...98,192,597 		JBrowse link
G Egln2 egl-9 family hypoxia-inducible factor 2 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:26,858,083...26,866,227
Ensembl chr 7:26,858,083...26,866,227 		JBrowse link
G Eid2 EP300 interacting inhibitor of differentiation 2 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:27,967,306...27,968,593
Ensembl chr 7:27,967,306...27,968,697 		JBrowse link
G Eid2b EP300 interacting inhibitor of differentiation 2B ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:27,977,131...27,979,554
Ensembl chr 7:27,977,164...27,978,914 		JBrowse link
G Erf Ets2 repressor factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis		 CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:23354439 PMID:25741868 PMID:26097063 More... NCBI chr 7:24,941,985...24,950,522
Ensembl chr 7:24,941,986...24,950,186 		JBrowse link
G Erich4 glutamate rich 4 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:25,314,045...25,315,278
Ensembl chr 7:25,314,045...25,315,317 		JBrowse link
G Exosc5 exosome component 5 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:25,358,578...25,367,457
Ensembl chr 7:25,358,589...25,370,793 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:26424790 NCBI chr 6:47,507,208...47,613,843
Ensembl chr 6:47,507,073...47,572,275 		JBrowse link
G Fam24a family with sequence similarity 24, member A ISO ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr 7:130,936,351...130,938,445
Ensembl chr 7:130,935,593...130,938,656 		JBrowse link
G Fbl fibrillarin ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:27,868,293...27,878,701
Ensembl chr 7:27,869,135...27,878,694 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Craniosynostosis ClinVar PMID:25741868 PMID:31837199 NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Craniosynostosis ClinVar PMID:25741868 PMID:28492532 NCBI chr18:58,141,689...58,343,200
Ensembl chr18:58,141,695...58,343,559 		JBrowse link
G Fcgbp Fc fragment of IgG binding protein ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:27,770,661...27,820,289
Ensembl chr 7:27,770,661...27,820,287 		JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 IMP
ISO		 DNA:missense mutation:exon:p.P250R (mouse)
ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis, nonspecific
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:15605412 PMID:16764984 PMID:23657145 PMID:25064402 PMID:25741868 More... RGD:11567263 NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO
IMP		 DNA:substitutions:multiple (human)
ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2-related craniosynostosis
ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: FGFR2-related craniosynostosis
ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2 related craniosynostosis
ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: FGFR2 related craniosynostosis
human cells in a rat model
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.Y105C, p.G384R (human)		 ClinVar
CTD
RGD		 PMID:1519658 PMID:1641873 PMID:1697263 PMID:2172978 PMID:4078868 More... RGD:6480630, RGD:12801469, RGD:8547554, RGD:12801484 NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO DNA:missense mutation:cds:p.P250R(human)
ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis, nonspecific		 ClinVar
RGD		 PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 More... RGD:11568028 NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
G Flna filamin, alpha ISO DNA:missense mutations:cds:multiple (human) RGD PMID:25873011 RGD:11531800 NCBI chr  X:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426 		JBrowse link
G Frem1 Fras1 related extracellular matrix protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Trigonocephaly		 CTD
ClinVar		 NCBI chr 4:82,816,157...82,970,743
Ensembl chr 4:82,816,157...82,970,576 		JBrowse link
G Gm38591 predicted gene, 38591 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:27,942,447...27,942,941 JBrowse link
G Gm9881 predicted gene 9881 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr16:90,963,733...90,968,496 JBrowse link
G Grik5 glutamate receptor, ionotropic, kainate 5 (gamma 2) ISO ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar PMID:28492532 NCBI chr 7:24,709,274...24,775,421
Ensembl chr 7:24,709,274...24,771,771 		JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar PMID:23354439 PMID:26097063 PMID:28492532 PMID:28808027 NCBI chr 7:24,927,683...24,937,276
Ensembl chr 7:24,927,683...24,937,276 		JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Brachycephaly ClinVar PMID:25741868 NCBI chr11:69,009,778...69,014,880
Ensembl chr11:69,011,230...69,014,881 		JBrowse link
G Hipk4 homeodomain interacting protein kinase 4 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:27,222,686...27,230,605
Ensembl chr 7:27,222,692...27,230,600 		JBrowse link
G Hnrnpul1 heterogeneous nuclear ribonucleoprotein U-like 1 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:25,420,586...25,455,695
Ensembl chr 7:25,420,590...25,454,182 		JBrowse link
G Htra1 HtrA serine peptidase 1 ISO ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr 7:130,537,933...130,587,388
Ensembl chr 7:130,537,841...130,587,390 		JBrowse link
G Ift122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chr 6:115,830,340...115,903,660
Ensembl chr 6:115,830,431...115,903,660 		JBrowse link
G Ikzf5 IKAROS family zinc finger 5 ISO ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr 7:130,990,378...131,012,243
Ensembl chr 7:130,990,381...131,012,250 		JBrowse link
G Itpkc inositol 1,4,5-trisphosphate 3-kinase C ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:26,906,595...26,928,042
Ensembl chr 7:26,906,597...26,928,086 		JBrowse link
G Kat6b K(lysine) acetyltransferase 6B ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar NCBI chr14:21,549,284...21,722,546
Ensembl chr14:21,531,502...21,722,546 		JBrowse link
G Lipe lipase, hormone sensitive ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:25,078,952...25,097,911
Ensembl chr 7:25,078,952...25,098,135 		JBrowse link
G Ltbp4 latent transforming growth factor beta binding protein 4 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:27,004,566...27,039,142
Ensembl chr 7:27,004,561...27,037,117 		JBrowse link
G Lypd4 Ly6/Plaur domain containing 4 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:24,564,044...24,569,180
Ensembl chr 7:24,564,045...24,569,366 		JBrowse link
G Map3k10 mitogen-activated protein kinase kinase kinase 10 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:27,355,800...27,374,059
Ensembl chr 7:27,355,800...27,374,023 		JBrowse link
G Megf8 multiple EGF-like-domains 8 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:25,016,589...25,065,342
Ensembl chr 7:25,016,589...25,065,342 		JBrowse link
G Mia MIA SH3 domain containing ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:26,879,166...26,880,574
Ensembl chr 7:26,879,167...26,880,582 		JBrowse link
G Msx2 msh homeobox 2 ISO
IAGP		 craniosynostosis type 2, OMIM:604757, DNA:point mutation:exon:P148H
OMIM:123100 | OMIM:182212 | OMIM:600593 | OMIM:600775 | OMIM:604757 | OMIM:615314 | OMIM:615529		 MouseDO
RGD		 PMID:8968743 RGD:1600491 NCBI chr13:53,620,917...53,626,816
Ensembl chr13:53,620,920...53,627,110 		JBrowse link
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta ISO ClinVar Annotator: match by term: Lambdoid synostosis ClinVar PMID:25741868 PMID:28492532 PMID:29892087 PMID:31737537 NCBI chr14:55,208,141...55,232,083
Ensembl chr14:55,208,141...55,232,083 		JBrowse link
G Nell1 NEL-like 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:14672347 PMID:12235118 RGD:633405 NCBI chr 7:49,625,098...50,513,037
Ensembl chr 7:49,624,612...50,516,356 		JBrowse link
G Nog noggin treatment ISO RGD PMID:19627528 RGD:8547554 NCBI chr11:89,191,464...89,193,385
Ensembl chr11:89,191,464...89,193,158 		JBrowse link
G Nsmce4a NSE4 homolog A, SMC5-SMC6 complex component ISO ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr 7:130,134,256...130,149,111
Ensembl chr 7:130,134,256...130,174,848 		JBrowse link
G Numbl numb-like ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:26,957,884...26,981,570
Ensembl chr 7:26,957,858...26,981,569 		JBrowse link
G Pafah1b3 platelet-activating factor acetylhydrolase, isoform 1b, subunit 3 ISO ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar PMID:28492532 NCBI chr 7:24,994,473...24,997,377
Ensembl chr 7:24,994,474...24,997,411 		JBrowse link
G Pld3 phospholipase D family, member 3 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:27,231,090...27,252,511
Ensembl chr 7:27,231,425...27,252,643 		JBrowse link
G Plekha1 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 ISO ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr 7:130,462,281...130,515,224
Ensembl chr 7:130,467,486...130,515,042 		JBrowse link
G Plekhg2 pleckstrin homology domain containing, family G (with RhoGef domain) member 2 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:28,059,028...28,072,818
Ensembl chr 7:28,059,029...28,072,024 		JBrowse link
G Pou2f2 POU domain, class 2, transcription factor 2 ISO ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar PMID:28492532 NCBI chr 7:24,790,111...24,879,292
Ensembl chr 7:24,786,769...24,879,151 		JBrowse link
G Prr19 proline rich 19 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:25,000,784...25,003,565
Ensembl chr 7:25,000,836...25,003,557 		JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:27,198,730...27,219,466
Ensembl chr 7:27,196,813...27,219,639 		JBrowse link
G Psmc4 proteasome (prosome, macropain) 26S subunit, ATPase, 4 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:27,741,127...27,749,517
Ensembl chr 7:27,741,132...27,749,526 		JBrowse link
G Pstk phosphoseryl-tRNA kinase ISO ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr 7:130,972,843...130,994,497
Ensembl chr 7:130,972,870...130,996,211 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Brachycephaly ClinVar PMID:11992261 PMID:14644997 PMID:15539800 PMID:15723289 PMID:15987685 More... NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
G Rab4b RAB4B, member RAS oncogene family ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:26,867,858...26,878,308
Ensembl chr 7:26,867,849...26,878,321 		JBrowse link
G Rabac1 Rab acceptor 1 (prenylated) ISO ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar PMID:28492532 NCBI chr 7:24,669,175...24,672,153
Ensembl chr 7:24,669,177...24,672,179 		JBrowse link
G Rps16 ribosomal protein S16 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:28,050,114...28,052,123
Ensembl chr 7:28,050,077...28,052,580 		JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:24,584,013...24,589,236
Ensembl chr 7:24,583,796...24,589,231 		JBrowse link
G Selenov selenoprotein V ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:27,984,077...27,990,611
Ensembl chr 7:27,984,077...27,990,611 		JBrowse link
G Sertad1 SERTA domain containing 1 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:27,186,378...27,189,741
Ensembl chr 7:27,186,335...27,189,741 		JBrowse link
G Sertad3 SERTA domain containing 3 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:27,173,265...27,176,789
Ensembl chr 7:27,173,193...27,176,789 		JBrowse link
G Shkbp1 Sh3kbp1 binding protein 1 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:27,041,553...27,055,440
Ensembl chr 7:27,041,558...27,055,444 		JBrowse link
G Smad6 SMAD family member 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:63,860,358...63,929,374
Ensembl chr 9:63,860,358...63,929,341 		JBrowse link
G Snrpa small nuclear ribonucleoprotein polypeptide A ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:26,886,431...26,895,696
Ensembl chr 7:26,886,430...26,895,696 		JBrowse link
G Sptbn4 spectrin beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:27,055,808...27,147,128
Ensembl chr 7:27,055,808...27,147,111 		JBrowse link
G Supt5 suppressor of Ty 5, DSIF elongation factor subunit ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:28,014,316...28,038,341
Ensembl chr 7:28,014,316...28,038,171 		JBrowse link
G Tacc2 transforming, acidic coiled-coil containing protein 2 ISO ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr 7:130,154,735...130,369,435
Ensembl chr 7:130,179,168...130,366,515 		JBrowse link
G Tcf12 transcription factor 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23354436 NCBI chr 9:71,751,534...72,019,611
Ensembl chr 9:71,749,970...72,019,153 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor I ISO ClinVar Annotator: match by term: Craniosynostosis ClinVar PMID:25741868 PMID:31837199 NCBI chr 4:47,353,222...47,414,926
Ensembl chr 4:47,353,222...47,414,931 		JBrowse link
G Timm50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:28,004,947...28,011,517
Ensembl chr 7:28,004,941...28,011,497 		JBrowse link
G Tmem145 transmembrane protein 145 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:25,004,981...25,015,621
Ensembl chr 7:25,005,531...25,015,620 		JBrowse link
G Tmem91 transmembrane protein 91 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:25,368,564...25,379,011
Ensembl chr 7:25,368,564...25,374,591 		JBrowse link
G Ttc9b tetratricopeptide repeat domain 9B ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:27,353,349...27,355,632
Ensembl chr 7:27,353,340...27,356,771 		JBrowse link
G Twist1 twist basic helix-loop-helix transcription factor 1 ISO ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1
ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2-related craniosynostosis
ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2-related craniosynostosis
ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2 related craniosynostosis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1240778 PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 More... NCBI chr12:34,007,670...34,009,830
Ensembl chr12:34,007,670...34,009,828 		JBrowse link
G Wdr35 WD repeat domain 35 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20817137 NCBI chr12:9,023,897...9,078,848
Ensembl chr12:9,023,892...9,078,847 		JBrowse link
G Zfp11 zinc finger protein 11 ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 5:129,731,659...129,747,152
Ensembl chr 5:129,731,657...129,747,163 		JBrowse link
G Zfp526 zinc finger protein 526 ISO ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar PMID:23354439 PMID:26097063 PMID:28492532 PMID:28808027 NCBI chr 7:24,919,272...24,929,688
Ensembl chr 7:24,920,850...24,926,932 		JBrowse link
G Zfp574 zinc finger protein 574 ISO ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar PMID:28492532 NCBI chr 7:24,775,099...24,782,917
Ensembl chr 7:24,771,992...24,782,917 		JBrowse link
G Zfp607a zinc finger protein 607A ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:27,559,922...27,606,709
Ensembl chr 7:27,556,952...27,580,250 		JBrowse link
G Zfp780b zinc finger protein 780B ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar PMID:28492532 NCBI chr 7:27,658,560...27,678,768
Ensembl chr 7:27,658,560...27,678,596 		JBrowse link
G Zic1 zinc finger protein of the cerebellum 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:91,240,111...91,250,136
Ensembl chr 9:91,240,111...91,247,863 		JBrowse link
3MC syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778 		JBrowse link
G Ahsg alpha-2-HS-glycoprotein ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr16:22,710,793...22,718,193
Ensembl chr16:22,710,027...22,718,199 		JBrowse link
G Colec11 collectin sub-family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr12:28,644,171...28,673,458
Ensembl chr12:28,644,172...28,673,376 		JBrowse link
G Crygs crystallin, gamma S ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr16:22,623,953...22,630,160
Ensembl chr16:22,623,953...22,630,327 		JBrowse link
G Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr16:22,676,595...22,698,384
Ensembl chr16:22,676,595...22,698,384 		JBrowse link
G Eif4a2 eukaryotic translation initiation factor 4A2 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr16:22,924,846...22,932,882
Ensembl chr16:22,926,194...22,932,886 		JBrowse link
G Fetub fetuin beta ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr16:22,737,132...22,758,518
Ensembl chr16:22,737,084...22,758,528 		JBrowse link
G Hrg histidine-rich glycoprotein ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr16:22,769,822...22,780,409
Ensembl chr16:22,769,822...22,780,406 		JBrowse link
G Kng2 kininogen 2 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr16:22,804,602...22,847,851
Ensembl chr16:22,804,604...22,848,232 		JBrowse link
G Masp1 mannan-binding lectin serine peptidase 1 ISO ClinVar Annotator: match by term: 3MC syndrome 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17937425 PMID:18266249 PMID:21035106 PMID:21258343 PMID:22966085 More... NCBI chr16:23,261,778...23,340,127
Ensembl chr16:23,268,167...23,339,565 		JBrowse link
G Rfc4 replication factor C (activator 1) 4 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr16:22,932,698...22,946,480
Ensembl chr16:22,932,693...22,946,487 		JBrowse link
G Rpl39l ribosomal protein L39-like ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr16:9,988,061...9,992,775
Ensembl chr16:9,988,090...9,992,775 		JBrowse link
G Rtp1 receptor transporter protein 1 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr16:23,247,883...23,252,710
Ensembl chr16:23,247,883...23,252,710 		JBrowse link
G Snora81 small nucleolar RNA, H/ACA box 81 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr16:22,929,520...22,929,683
Ensembl chr16:22,929,506...22,929,683
Ensembl chr16:22,929,506...22,929,683 		JBrowse link
G St6gal1 beta galactoside alpha 2,6 sialyltransferase 1 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr16:23,043,478...23,179,100
Ensembl chr16:23,043,490...23,179,100 		JBrowse link
G Tbccd1 TBCC domain containing 1 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr16:22,631,964...22,676,441
Ensembl chr16:22,631,964...22,676,419 		JBrowse link
acrocephalosyndactylia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 fibroblast growth factor receptor 1 ISO DNA:missense mutation: :p.P252R (human) RGD PMID:7874169 PMID:25251565 RGD:11567243, RGD:11567271 NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 severity
treatment		 ISO
IAGP
IMP		 ClinVar Annotator: match by term: Acrocephalosyndactyly type I | ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly | ClinVar Annotator: match by term: Craniofacial-skeletal-dermatologic dysplasia | ClinVar Annotator: match by term: Syndactylic oxycephaly
ClinVar Annotator: match by term: Acrocephalosyndactyly type I | ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly | ClinVar Annotator: match by term: Syndactylic oxycephaly
OMIM:101200
DNA:missense mutation:cds:p.P253R (human)
DNA:missense mutation:cds:p.A172F (human)
DNA:missense mutations:cds:p.S252W, p.P253R (human)
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1641873 PMID:7607643 PMID:7655462 PMID:7668257 PMID:7719344 More... RGD:12801488, RGD:12801475, RGD:12801474, RGD:12801413, RGD:8547743 NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly ClinVar PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 More... NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
G Twist1 twist basic helix-loop-helix transcription factor 1 ISO SCS,OMIM:101400;DNA:point mutation:exon:Y103X,Q119P
ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1240778 PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 More... RGD:1624353 NCBI chr12:34,007,670...34,009,830
Ensembl chr12:34,007,670...34,009,828 		JBrowse link
acrofacial dysostosis Cincinnati type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1a polymerase (RNA) I polypeptide A ISO ClinVar Annotator: match by term: Acrofacial dysostosis Cincinnati type OMIM
ClinVar		 PMID:25741868 PMID:25913037 PMID:28492532 NCBI chr 6:71,886,037...71,956,419
Ensembl chr 6:71,886,037...71,961,919 		JBrowse link
acromelic frontonasal dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zswim6 zinc finger SWIM-type containing 6 ISO ClinVar Annotator: match by term: Acromelic frontonasal dysostosis OMIM
ClinVar		 PMID:25105228 PMID:25741868 PMID:26706854 PMID:28492532 NCBI chr13:107,861,152...108,026,598
Ensembl chr13:107,861,152...108,026,598 		JBrowse link
Antley-Bixler syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp51 cytochrome P450, family 51 IMP RGD PMID:21705796 RGD:41412188 NCBI chr 5:4,130,674...4,154,697
Ensembl chr 5:4,131,145...4,154,746 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteodysgenesis, multisynostotic with fractures
DNA:missense mutations:cds:multiple (human)		 CTD
ClinVar
RGD		 PMID:1641873 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... RGD:12801485 NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: POR Deficiency		 CTD
ClinVar		 PMID:12116245 PMID:14758361 PMID:15220035 PMID:15793702 PMID:16906539 More... NCBI chr 5:135,698,894...135,764,180
Ensembl chr 5:135,698,887...135,764,180 		JBrowse link
Antley-Bixler syndrome with disordered steroidogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Osteodysgenesis, multisynostotic with fractures ClinVar PMID:1641873 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | ClinVar Annotator: match by term: POR Deficiency OMIM
ClinVar		 PMID:9360545 PMID:9536098 PMID:12116245 PMID:14513299 PMID:14758361 More... NCBI chr 5:135,698,894...135,764,180
Ensembl chr 5:135,698,887...135,764,180 		JBrowse link
Antley-Bixler syndrome without disordered steroidogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis OMIM
ClinVar		 PMID:1641873 PMID:7607643 PMID:7668257 PMID:7719344 PMID:7719345 More... NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:135,698,894...135,764,180
Ensembl chr 5:135,698,887...135,764,180 		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 isoform ISO ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29432562 PMID:30904718 NCBI chr 3:136,375,778...136,643,488
Ensembl chr 3:136,375,885...136,643,488 		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 chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609 		JBrowse link
Baller-Gerold syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap39 Rho GTPase activating protein 39 ISO ClinVar Annotator: match by term: Baller-Gerold syndrome ClinVar PMID:12734318 PMID:12952869 PMID:28492532 NCBI chr15:76,608,183...76,702,366
Ensembl chr15:76,608,185...76,702,370 		JBrowse link
G C030006K11Rik RIKEN cDNA C030006K11 gene ISO ClinVar Annotator: match by term: Baller-Gerold syndrome ClinVar PMID:12734318 PMID:12952869 PMID:28492532 NCBI chr15:76,605,665...76,608,045
Ensembl chr15:76,605,665...76,608,045 		JBrowse link
G Gpt glutamic pyruvic transaminase, soluble ISO ClinVar Annotator: match by term: Baller-Gerold syndrome ClinVar PMID:12734318 PMID:28492532 NCBI chr15:76,580,926...76,583,875
Ensembl chr15:76,579,916...76,583,886 		JBrowse link
G Lrrc14 leucine rich repeat containing 14 ISO ClinVar Annotator: match by term: Baller-Gerold syndrome ClinVar PMID:12734318 PMID:12952869 PMID:28492532 NCBI chr15:76,594,820...76,599,297
Ensembl chr15:76,594,823...76,601,899 		JBrowse link
G Lrrc24 leucine rich repeat containing 24 ISO ClinVar Annotator: match by term: Baller-Gerold syndrome ClinVar PMID:12734318 PMID:12952869 PMID:28492532 NCBI chr15:76,599,476...76,606,373
Ensembl chr15:76,599,476...76,606,373 		JBrowse link
G Mfsd3 major facilitator superfamily domain containing 3 ISO ClinVar Annotator: match by term: Baller-Gerold syndrome ClinVar PMID:12734318 PMID:28492532 NCBI chr15:76,585,742...76,588,439
Ensembl chr15:76,585,665...76,588,439 		JBrowse link
G Recql4 RecQ protein-like 4 ISO ClinVar Annotator: match by term: Baller-Gerold syndrome | ClinVar Annotator: match by term: Craniosynostosis with radial defects OMIM
ClinVar		 PMID:9536098 PMID:9878247 PMID:10319867 PMID:10678659 PMID:12734318 More... NCBI chr15:76,587,753...76,594,820
Ensembl chr15:76,587,753...76,594,748 		JBrowse link
G Zfp251 zinc finger protein 251 ISO ClinVar Annotator: match by term: Baller-Gerold syndrome ClinVar PMID:12734318 PMID:12952869 PMID:28492532 NCBI chr15:76,736,331...76,755,635
Ensembl chr15:76,735,809...76,755,635 		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:25741868 PMID:25792360 PMID:28170084 PMID:28492532 More... NCBI chr 7:44,526,189...44,544,771
Ensembl chr 7:44,526,189...44,542,136 		JBrowse link
Beare-Stevenson cutis gyrata syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO
IAGP		 ClinVar Annotator: match by term: Beare-Stevenson cutis gyrata syndrome | ClinVar Annotator: match by term: Cutis Gyrata syndrome of Beare and Stevenson
CTD Direct Evidence: marker/mechanism
OMIM:123790		 OMIM
ClinVar
CTD
MouseDO		 PMID:1641873 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
Bohring Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Bohring-Opitz syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16412590 PMID:18414213 PMID:20880116 PMID:21576631 PMID:21706002 More... NCBI chr 2:153,187,750...153,245,927
Ensembl chr 2:153,187,749...153,245,927 		JBrowse link
G Klhl7 kelch-like 7 ISO ClinVar Annotator: match by term: Bohring-Opitz syndrome ClinVar PMID:25741868 NCBI chr 5:24,305,563...24,368,363
Ensembl chr 5:24,305,603...24,365,790 		JBrowse link
Brachycephaly, Trichomegaly, and Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps23 ribosomal protein S23 ISO ClinVar Annotator: match by term: Brachycephaly, trichomegaly, and developmental delay OMIM
ClinVar		 PMID:25741868 PMID:28257692 NCBI chr13:91,071,241...91,072,851
Ensembl chr13:91,071,077...91,073,069 		JBrowse link
C syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd96 CD96 antigen ISO ClinVar Annotator: match by term: C syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17847009 PMID:25741868 PMID:28492532 PMID:34906502 NCBI chr16:45,856,015...45,940,611
Ensembl chr16:45,856,020...45,940,614 		JBrowse link
Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag2 BCL2-associated athanogene 2 ISO ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome ClinVar NCBI chr 1:33,784,565...33,796,831
Ensembl chr 1:33,784,565...33,796,876 		JBrowse link
G Megf8 multiple EGF-like-domains 8 IAGP
ISO		 OMIM:201000 | OMIM:614976
ClinVar Annotator: match by term: Carpenter syndrome
CTD Direct Evidence: marker/mechanism		 MouseDO
ClinVar
CTD		 NCBI chr 7:25,016,589...25,065,342
Ensembl chr 7:25,016,589...25,065,342 		JBrowse link
G Rab23 RAB23, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ACPS 2 | ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome		 CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17503333 PMID:17576681 PMID:20358613 More... NCBI chr 1:33,758,959...33,781,645
Ensembl chr 1:33,758,968...33,781,645 		JBrowse link
Carpenter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag2 BCL2-associated athanogene 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 1 ClinVar NCBI chr 1:33,784,565...33,796,831
Ensembl chr 1:33,784,565...33,796,876 		JBrowse link
G Rab23 RAB23, member RAS oncogene family ISO ClinVar Annotator: match by term: Carpenter syndrome 1 OMIM
ClinVar		 PMID:17503333 PMID:20358613 PMID:21412941 PMID:23599695 PMID:24458945 More... NCBI chr 1:33,758,959...33,781,645
Ensembl chr 1:33,758,968...33,781,645 		JBrowse link
Carpenter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2310022A10Rik RIKEN cDNA 2310022A10 gene ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,252,482...27,281,524
Ensembl chr 7:27,252,658...27,281,524 		JBrowse link
G Actmap actin maturation protease ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:26,894,973...26,909,611
Ensembl chr 7:26,895,206...26,909,611 		JBrowse link
G Akt2 thymoma viral proto-oncogene 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,290,977...27,340,251
Ensembl chr 7:27,290,977...27,340,251 		JBrowse link
G Arhgef1 Rho guanine nucleotide exchange factor (GEF) 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:24,601,762...24,626,019
Ensembl chr 7:24,602,337...24,626,019 		JBrowse link
G Atp1a3 ATPase, Na+/K+ transporting, alpha 3 polypeptide ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:24,677,592...24,705,502
Ensembl chr 7:24,677,592...24,705,383 		JBrowse link
G Axl AXL receptor tyrosine kinase ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:25,455,925...25,488,502
Ensembl chr 7:25,456,698...25,488,130 		JBrowse link
G B3gnt8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:25,327,025...25,328,917
Ensembl chr 7:25,326,079...25,334,525 		JBrowse link
G B9d2 B9 protein domain 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:25,380,205...25,385,987
Ensembl chr 7:25,380,205...25,385,983 		JBrowse link
G Bckdha branched chain ketoacid dehydrogenase E1, alpha polypeptide ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:25,329,371...25,358,178
Ensembl chr 7:25,329,371...25,358,406 		JBrowse link
G Blvrb biliverdin reductase B (flavin reductase (NADPH)) ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,147,403...27,165,406
Ensembl chr 7:27,147,403...27,165,569 		JBrowse link
G Ccdc97 coiled-coil domain containing 97 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:25,410,537...25,418,460
Ensembl chr 7:25,410,531...25,418,513 		JBrowse link
G Cd79a CD79A antigen (immunoglobulin-associated alpha) ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:24,596,922...24,601,283
Ensembl chr 7:24,596,806...24,601,622 		JBrowse link
G Ceacam10 CEA cell adhesion molecule 10 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:24,476,592...24,484,081
Ensembl chr 7:24,476,631...24,484,082 		JBrowse link
G Ceacam15 CEA cell adhesion molecule 15 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:16,405,256...16,409,630
Ensembl chr 7:16,405,256...16,409,630 		JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:24,967,054...24,993,584
Ensembl chr 7:24,967,129...24,993,584 		JBrowse link
G Cnfn cornifelin ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:25,067,041...25,069,149
Ensembl chr 7:25,067,045...25,069,149 		JBrowse link
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:26,928,112...26,957,374
Ensembl chr 7:26,932,448...26,957,375 		JBrowse link
G Cyp2a4 cytochrome P450, family 2, subfamily a, polypeptide 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:26,006,617...26,014,513
Ensembl chr 7:26,006,594...26,014,513 		JBrowse link
G Cyp2a5 cytochrome P450, family 2, subfamily a, polypeptide 5 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:26,534,764...26,542,689
Ensembl chr 7:26,534,730...26,542,973 		JBrowse link
G Cyp2b10 cytochrome P450, family 2, subfamily b, polypeptide 10 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:25,597,083...25,626,049
Ensembl chr 7:25,597,045...25,626,049 		JBrowse link
G Cyp2f2 cytochrome P450, family 2, subfamily f, polypeptide 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:26,819,380...26,833,085
Ensembl chr 7:26,819,334...26,833,085 		JBrowse link
G Cyp2s1 cytochrome P450, family 2, subfamily s, polypeptide 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:25,501,894...25,515,950
Ensembl chr 7:25,501,900...25,516,338 		JBrowse link
G Dedd2 death effector domain-containing DNA binding protein 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:24,899,337...24,920,035
Ensembl chr 7:24,899,340...24,920,040 		JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,992,980...28,001,210
Ensembl chr 7:27,992,978...28,001,663 		JBrowse link
G Dmac2 distal membrane arm assembly complex 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:25,318,839...25,324,975
Ensembl chr 7:25,318,839...25,324,976 		JBrowse link
G Dmrtc2 doublesex and mab-3 related transcription factor like family C2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:24,569,242...24,577,080
Ensembl chr 7:24,569,482...24,577,076 		JBrowse link
G Dyrk1b dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1b ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,878,880...27,896,896
Ensembl chr 7:27,878,894...27,886,719 		JBrowse link
G Egln2 egl-9 family hypoxia-inducible factor 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:26,858,083...26,866,227
Ensembl chr 7:26,858,083...26,866,227 		JBrowse link
G Eid2 EP300 interacting inhibitor of differentiation 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,967,306...27,968,593
Ensembl chr 7:27,967,306...27,968,697 		JBrowse link
G Eid2b EP300 interacting inhibitor of differentiation 2B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,977,131...27,979,554
Ensembl chr 7:27,977,164...27,978,914 		JBrowse link
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:24,941,985...24,950,522
Ensembl chr 7:24,941,986...24,950,186 		JBrowse link
G Erich4 glutamate rich 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:25,314,045...25,315,278
Ensembl chr 7:25,314,045...25,315,317 		JBrowse link
G Exosc5 exosome component 5 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:25,358,578...25,367,457
Ensembl chr 7:25,358,589...25,370,793 		JBrowse link
G Fbl fibrillarin ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,868,293...27,878,701
Ensembl chr 7:27,869,135...27,878,694 		JBrowse link
G Fcgbp Fc fragment of IgG binding protein ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,770,661...27,820,289
Ensembl chr 7:27,770,661...27,820,287 		JBrowse link
G Gm38591 predicted gene, 38591 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,942,447...27,942,941 JBrowse link
G Gm9881 predicted gene 9881 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr16:90,963,733...90,968,496 JBrowse link
G Grik5 glutamate receptor, ionotropic, kainate 5 (gamma 2) ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:24,709,274...24,775,421
Ensembl chr 7:24,709,274...24,771,771 		JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:24,927,683...24,937,276
Ensembl chr 7:24,927,683...24,937,276 		JBrowse link
G Hipk4 homeodomain interacting protein kinase 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,222,686...27,230,605
Ensembl chr 7:27,222,692...27,230,600 		JBrowse link
G Hnrnpul1 heterogeneous nuclear ribonucleoprotein U-like 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:25,420,586...25,455,695
Ensembl chr 7:25,420,590...25,454,182 		JBrowse link
G Itpkc inositol 1,4,5-trisphosphate 3-kinase C ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:26,906,595...26,928,042
Ensembl chr 7:26,906,597...26,928,086 		JBrowse link
G Lipe lipase, hormone sensitive ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:25,078,952...25,097,911
Ensembl chr 7:25,078,952...25,098,135 		JBrowse link
G Ltbp4 latent transforming growth factor beta binding protein 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,004,566...27,039,142
Ensembl chr 7:27,004,561...27,037,117 		JBrowse link
G Lypd4 Ly6/Plaur domain containing 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:24,564,044...24,569,180
Ensembl chr 7:24,564,045...24,569,366 		JBrowse link
G Map3k10 mitogen-activated protein kinase kinase kinase 10 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,355,800...27,374,059
Ensembl chr 7:27,355,800...27,374,023 		JBrowse link
G Megf8 multiple EGF-like-domains 8 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23063620 PMID:25326635 More... NCBI chr 7:25,016,589...25,065,342
Ensembl chr 7:25,016,589...25,065,342 		JBrowse link
G Mia MIA SH3 domain containing ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:26,879,166...26,880,574
Ensembl chr 7:26,879,167...26,880,582 		JBrowse link
G Numbl numb-like ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:26,957,884...26,981,570
Ensembl chr 7:26,957,858...26,981,569 		JBrowse link
G Pafah1b3 platelet-activating factor acetylhydrolase, isoform 1b, subunit 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:24,994,473...24,997,377
Ensembl chr 7:24,994,474...24,997,411 		JBrowse link
G Pld3 phospholipase D family, member 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,231,090...27,252,511
Ensembl chr 7:27,231,425...27,252,643 		JBrowse link
G Plekhg2 pleckstrin homology domain containing, family G (with RhoGef domain) member 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:28,059,028...28,072,818
Ensembl chr 7:28,059,029...28,072,024 		JBrowse link
G Pou2f2 POU domain, class 2, transcription factor 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:24,790,111...24,879,292
Ensembl chr 7:24,786,769...24,879,151 		JBrowse link
G Prr19 proline rich 19 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:25,000,784...25,003,565
Ensembl chr 7:25,000,836...25,003,557 		JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,198,730...27,219,466
Ensembl chr 7:27,196,813...27,219,639 		JBrowse link
G Psmc4 proteasome (prosome, macropain) 26S subunit, ATPase, 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,741,127...27,749,517
Ensembl chr 7:27,741,132...27,749,526 		JBrowse link
G Rab4b RAB4B, member RAS oncogene family ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:26,867,858...26,878,308
Ensembl chr 7:26,867,849...26,878,321 		JBrowse link
G Rabac1 Rab acceptor 1 (prenylated) ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:24,669,175...24,672,153
Ensembl chr 7:24,669,177...24,672,179 		JBrowse link
G Rps16 ribosomal protein S16 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:28,050,114...28,052,123
Ensembl chr 7:28,050,077...28,052,580 		JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:24,584,013...24,589,236
Ensembl chr 7:24,583,796...24,589,231 		JBrowse link
G Selenov selenoprotein V ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,984,077...27,990,611
Ensembl chr 7:27,984,077...27,990,611 		JBrowse link
G Sertad1 SERTA domain containing 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,186,378...27,189,741
Ensembl chr 7:27,186,335...27,189,741 		JBrowse link
G Sertad3 SERTA domain containing 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,173,265...27,176,789
Ensembl chr 7:27,173,193...27,176,789 		JBrowse link
G Shkbp1 Sh3kbp1 binding protein 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,041,553...27,055,440
Ensembl chr 7:27,041,558...27,055,444 		JBrowse link
G Snrpa small nuclear ribonucleoprotein polypeptide A ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:26,886,431...26,895,696
Ensembl chr 7:26,886,430...26,895,696 		JBrowse link
G Sptbn4 spectrin beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,055,808...27,147,128
Ensembl chr 7:27,055,808...27,147,111 		JBrowse link
G Supt5 suppressor of Ty 5, DSIF elongation factor subunit ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:28,014,316...28,038,341
Ensembl chr 7:28,014,316...28,038,171 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Timm50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:28,004,947...28,011,517
Ensembl chr 7:28,004,941...28,011,497 		JBrowse link
G Tmem145 transmembrane protein 145 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:25,004,981...25,015,621
Ensembl chr 7:25,005,531...25,015,620 		JBrowse link
G Tmem91 transmembrane protein 91 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:25,368,564...25,379,011
Ensembl chr 7:25,368,564...25,374,591 		JBrowse link
G Ttc9b tetratricopeptide repeat domain 9B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,353,349...27,355,632
Ensembl chr 7:27,353,340...27,356,771 		JBrowse link
G Zfp11 zinc finger protein 11 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 5:129,731,659...129,747,152
Ensembl chr 5:129,731,657...129,747,163 		JBrowse link
G Zfp526 zinc finger protein 526 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:24,919,272...24,929,688
Ensembl chr 7:24,920,850...24,926,932 		JBrowse link
G Zfp574 zinc finger protein 574 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:24,775,099...24,782,917
Ensembl chr 7:24,771,992...24,782,917 		JBrowse link
G Zfp607a zinc finger protein 607A ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,559,922...27,606,709
Ensembl chr 7:27,556,952...27,580,250 		JBrowse link
G Zfp780b zinc finger protein 780B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,658,560...27,678,768
Ensembl chr 7:27,658,560...27,678,596 		JBrowse link
Cole-Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4hb prolyl 4-hydroxylase, beta polypeptide ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cole-Carpenter syndrome		 CTD
ClinVar		 PMID:25741868 NCBI chr11:120,451,124...120,464,079
Ensembl chr11:120,451,124...120,464,079 		JBrowse link
G Sec24d SEC24 homolog D, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:123,058,451...123,159,290
Ensembl chr 3:123,061,104...123,159,290 		JBrowse link
Cole-Carpenter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4hb prolyl 4-hydroxylase, beta polypeptide ISO ClinVar Annotator: match by term: Cole-Carpenter syndrome 1 OMIM
ClinVar		 PMID:25683117 PMID:25741868 PMID:28492532 NCBI chr11:120,451,124...120,464,079
Ensembl chr11:120,451,124...120,464,079 		JBrowse link
Cole-Carpenter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec24d SEC24 homolog D, COPII coat complex component ISO ClinVar Annotator: match by term: Cole-Carpenter syndrome 2 OMIM
ClinVar		 PMID:25683121 PMID:25741868 PMID:26467156 PMID:27942778 PMID:28492532 More... NCBI chr 3:123,058,451...123,159,290
Ensembl chr 3:123,061,104...123,159,290 		JBrowse link
cranioectodermal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cranioectodermal dysplasia		 CTD
ClinVar		 PMID:23826986 PMID:24027799 PMID:25741868 PMID:28492532 NCBI chr 6:115,830,340...115,903,660
Ensembl chr 6:115,830,431...115,903,660 		JBrowse link
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 NCBI chr12:86,129,335...86,209,233
Ensembl chr12:86,129,315...86,209,233 		JBrowse link
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia | ClinVar Annotator: match by term: Sensenbrenner syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr12:8,997,929...9,022,028
Ensembl chr12:8,997,929...9,022,028 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia ClinVar NCBI chr12:86,103,517...86,125,815
Ensembl chr12:86,103,519...86,125,815 		JBrowse link
G Wdr19 WD repeat domain 19 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cranioectodermal dysplasia		 CTD
ClinVar		 PMID:22019273 PMID:23559409 PMID:23683095 PMID:25726036 PMID:25741868 More... NCBI chr 5:65,357,039...65,417,758
Ensembl chr 5:65,357,039...65,417,758 		JBrowse link
G Wdr35 WD repeat domain 35 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cranioectodermal dysplasia | ClinVar Annotator: match by term: Sensenbrenner syndrome		 CTD
ClinVar		 PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:28332779 More... NCBI chr12:9,023,897...9,078,848
Ensembl chr12:9,023,892...9,078,847 		JBrowse link
cranioectodermal dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17022080 PMID:17576681 PMID:19648123 More... NCBI chr 6:115,830,340...115,903,660
Ensembl chr 6:115,830,431...115,903,660 		JBrowse link
G Mbd4 methyl-CpG binding domain protein 4 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 ClinVar PMID:28492532 NCBI chr 6:115,817,658...115,830,361
Ensembl chr 6:115,817,658...115,830,332 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 ClinVar PMID:28492532 NCBI chr 6:115,903,741...115,916,999
Ensembl chr 6:115,908,709...115,916,997 		JBrowse link
cranioectodermal dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:8,997,929...9,022,028
Ensembl chr12:8,997,929...9,022,028 		JBrowse link
G Spag17 sperm associated antigen 17 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar NCBI chr 3:99,792,653...100,050,638
Ensembl chr 3:99,792,722...100,050,638 		JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2
DNA:missense mutation:cds:p.L520P (human)		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20817137 PMID:21473986 More... RGD:11553909 NCBI chr12:9,023,897...9,078,848
Ensembl chr12:9,023,892...9,078,847 		JBrowse link
cranioectodermal dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 3 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21378380 PMID:24027799 PMID:25741868 More... NCBI chr12:86,129,335...86,209,233
Ensembl chr12:86,129,315...86,209,233 		JBrowse link
cranioectodermal dysplasia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr19 WD repeat domain 19 ISO
IAGP		 ClinVar Annotator: match by term: Cranioectodermal dysplasia 4
DNA:missense mutation:cds:p.L750P (mouse)		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:17576681 PMID:22019273 PMID:23559409 PMID:23683095 More... RGD:11552606 NCBI chr 5:65,357,039...65,417,758
Ensembl chr 5:65,357,039...65,417,758 		JBrowse link
Craniosynostosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msx2 msh homeobox 2 ISO ClinVar Annotator: match by term: Craniosynostosis 2 OMIM
ClinVar		 PMID:7597092 PMID:8106171 PMID:8357019 PMID:8968743 PMID:9256341 More... NCBI chr13:53,620,917...53,626,816
Ensembl chr13:53,620,920...53,627,110 		JBrowse link
Craniosynostosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Coronal craniosynostosis ClinVar PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 More... NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
G Tcf12 transcription factor 12 ISO ClinVar Annotator: match by term: Coronal craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 3 OMIM
ClinVar		 PMID:23354436 PMID:24736737 PMID:25271085 PMID:25741868 PMID:28492532 More... NCBI chr 9:71,751,534...72,019,611
Ensembl chr 9:71,749,970...72,019,153 		JBrowse link
G Twist1 twist basic helix-loop-helix transcription factor 1 ISO ClinVar Annotator: match by term: Coronal craniosynostosis ClinVar NCBI chr12:34,007,670...34,009,830
Ensembl chr12:34,007,670...34,009,828 		JBrowse link
Craniosynostosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Craniosynostosis 4 OMIM
ClinVar		 PMID:23354439 PMID:25741868 PMID:26097063 PMID:27738187 PMID:28492532 More... NCBI chr 7:24,941,985...24,950,522
Ensembl chr 7:24,941,986...24,950,186 		JBrowse link
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta ISO ClinVar Annotator: match by term: Craniosynostosis 4 ClinVar PMID:25741868 PMID:28492532 PMID:29892087 PMID:31737537 NCBI chr14:55,208,141...55,232,083
Ensembl chr14:55,208,141...55,232,083 		JBrowse link
Craniosynostosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 aristaless-like homeobox 4 ISO ClinVar Annotator: match by term: Craniosynostosis 5, susceptibility to ClinVar
OMIM		 PMID:22829454 NCBI chr 2:93,472,779...93,511,686
Ensembl chr 2:93,472,729...93,511,684 		JBrowse link
Craniosynostosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zic1 zinc finger protein of the cerebellum 1 ISO ClinVar Annotator: match by term: Craniosynostosis 6 OMIM
ClinVar		 PMID:25741868 PMID:26340333 NCBI chr 9:91,240,111...91,250,136
Ensembl chr 9:91,240,111...91,247,863 		JBrowse link
Craniosynostosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Craniosynostosis 7 ClinVar PMID:27606499 NCBI chr 2:133,394,079...133,404,816
Ensembl chr 2:133,394,079...133,404,805 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Craniosynostosis 7 ClinVar
OMIM		 PMID:22275001 PMID:25741868 PMID:27606499 PMID:28492532 PMID:28808027 More... NCBI chr 9:63,860,358...63,929,374
Ensembl chr 9:63,860,358...63,929,341 		JBrowse link
Craniosynostosis and Dental Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il11ra1 interleukin 11 receptor, alpha chain 1 ISO ClinVar Annotator: match by term: Craniosynostosis and dental anomalies OMIM
ClinVar		 PMID:21741611 PMID:25741868 PMID:34906502 NCBI chr 4:41,760,443...41,769,473
Ensembl chr 4:41,699,989...41,769,474 		JBrowse link
Craniosynostosis Syndrome, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl4 ADAMTS-like 4 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 3:95,583,511...95,595,232
Ensembl chr 3:95,583,511...95,595,228 		JBrowse link
G Axin2 axin 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr11:108,808,687...108,841,609
Ensembl chr11:108,811,175...108,841,609 		JBrowse link
G Cnpy2 canopy FGF signaling regulator 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr10:128,157,972...128,163,056
Ensembl chr10:128,158,328...128,163,422 		JBrowse link
G Ctnna1 catenin (cadherin associated protein), alpha 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:31292255 NCBI chr18:35,251,955...35,387,829
Ensembl chr18:35,251,912...35,387,832 		JBrowse link
G Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 6:84,548,396...84,570,890
Ensembl chr 6:84,548,396...84,570,890 		JBrowse link
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 7:24,941,985...24,950,522
Ensembl chr 7:24,941,986...24,950,186 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:58,141,689...58,343,200
Ensembl chr18:58,141,695...58,343,559 		JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:9536098 PMID:10629055 PMID:12627230 PMID:15365636 PMID:15605412 More... NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:7607643 PMID:7719345 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:7493034 PMID:8723106 PMID:8841188 PMID:8880573 PMID:9042914 More... NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
G Gli2 GLI-Kruppel family member GLI2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:31292255 NCBI chr 1:118,761,791...118,987,578
Ensembl chr 1:118,761,862...118,981,349 		JBrowse link
G Gli3 GLI-Kruppel family member GLI3 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:21326280 PMID:22903559 PMID:24736735 PMID:25741868 NCBI chr13:15,638,308...15,904,611
Ensembl chr13:15,637,820...15,904,611 		JBrowse link
G Gpc4 glypican 4 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:31292255 NCBI chr  X:51,139,884...51,253,800
Ensembl chr  X:51,141,898...51,254,129 		JBrowse link
G Grin2b glutamate receptor, ionotropic, NMDA2B (epsilon 2) ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 6:135,690,219...136,150,658
Ensembl chr 6:135,690,231...136,150,509 		JBrowse link
G Igf1r insulin-like growth factor I receptor ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416 		JBrowse link
G Il11ra1 interleukin 11 receptor, alpha chain 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 4:41,760,443...41,769,473
Ensembl chr 4:41,699,989...41,769,474 		JBrowse link
G Kat6a K(lysine) acetyltransferase 6A ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:30245513 PMID:31292255 NCBI chr 8:23,349,458...23,433,275
Ensembl chr 8:23,349,551...23,433,275 		JBrowse link
G Man2b1 mannosidase 2, alpha B1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 8:85,809,387...85,825,368
Ensembl chr 8:85,809,899...85,824,911 		JBrowse link
G Msx1 msh homeobox 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 5:37,977,835...37,981,929
Ensembl chr 5:37,977,829...37,981,927 		JBrowse link
G Msx2 msh homeobox 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar NCBI chr13:53,620,917...53,626,816
Ensembl chr13:53,620,920...53,627,110 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar NCBI chr 4:43,629,015...43,651,437
Ensembl chr 4:43,631,935...43,651,244 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:31837199 NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412 		JBrowse link
G Runx2 runt related transcription factor 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr17:44,806,873...45,125,518
Ensembl chr17:44,806,874...45,125,684 		JBrowse link
G Sox11 SRY (sex determining region Y)-box 11 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:31292255 NCBI chr12:27,384,267...27,392,717
Ensembl chr12:27,384,263...27,392,573 		JBrowse link
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:28492532 PMID:31837199 NCBI chr10:75,047,872...75,148,234
Ensembl chr10:75,047,905...75,148,577 		JBrowse link
G Tcf12 transcription factor 12 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:30038786 PMID:31837199 NCBI chr 9:71,751,534...72,019,611
Ensembl chr 9:71,749,970...72,019,153 		JBrowse link
G Tfap2b transcription factor AP-2 beta ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:31292255 NCBI chr 1:19,279,132...19,309,071
Ensembl chr 1:19,279,138...19,308,800 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor I ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 4:47,353,222...47,414,926
Ensembl chr 4:47,353,222...47,414,931 		JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar NCBI chr15:50,518,149...50,754,027
Ensembl chr15:50,518,148...50,753,859 		JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:28492532 PMID:31837199 NCBI chr 5:65,357,039...65,417,758
Ensembl chr 5:65,357,039...65,417,758 		JBrowse link
G Zfp462 zinc finger protein 462 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:28513610 NCBI chr 4:54,942,038...55,083,563
Ensembl chr 4:54,945,048...55,083,563 		JBrowse link
Craniosynostosis with Ectopia Lentis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl4 ADAMTS-like 4 ISO ClinVar Annotator: match by term: Craniosynostosis with ectopia lentis ClinVar PMID:2056446 PMID:9536098 PMID:17576681 PMID:20564469 PMID:20702823 More... NCBI chr 3:95,583,511...95,595,232
Ensembl chr 3:95,583,511...95,595,228 		JBrowse link
Craniosynostosis, Anal Anomalies, and Porokeratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnu12 RNA U12, small nuclear ISO ClinVar Annotator: match by term: CDAGS syndrome OMIM
ClinVar		 PMID:2400728 PMID:9733036 PMID:23602181 PMID:28217872 PMID:34085356 NCBI chr15:83,033,846...83,033,995
Ensembl chr15:83,033,845...83,033,995 		JBrowse link
Crouzon syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO
IAGP		 ClinVar Annotator: match by term: Craniofacial dysostosis | ClinVar Annotator: match by term: Craniofacial dysostosis type 1 | ClinVar Annotator: match by term: Crouzon disease | ClinVar Annotator: match by term: Crouzon syndrome
DNA:missense mutations:CDS:multiple (human)
OMIM:123500
DNA:missense mutations:cds:p.Y281C, p.G289P (human)
DNA:missense mutations, silent mutation:cds:multiple (human)
DNA:missense mutations:cds:multiple (human)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1519658 PMID:1641873 PMID:1697263 PMID:2172978 PMID:4078868 More... RGD:155663659, RGD:12801472, RGD:12801470, RGD:12801466 NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Craniofacial dysostosis ClinVar PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 More... NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 ISO ClinVar Annotator: match by term: Crouzon syndrome ClinVar PMID:25741868 NCBI chr18:60,946,827...60,982,055
Ensembl chr18:60,946,827...60,982,043 		JBrowse link
Crouzon syndrome-acanthosis nigricans syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Crouzon syndrome with acanthosis nigricans | ClinVar Annotator: match by term: Crouzon syndrome-acanthosis nigricans syndrome
DNA:missense mutation:p.A391E(human)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:1908846 PMID:7493034 PMID:7647778 PMID:7773297 PMID:8589699 More... RGD:11568032 NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tsr2 TSR2 20S rRNA accumulation ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis OMIM
ClinVar		 PMID:11424144 PMID:24942156 PMID:25741868 PMID:28492532 NCBI chr  X:149,870,090...149,879,539
Ensembl chr  X:149,870,090...149,879,539 		JBrowse link
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps26 ribosomal protein S26 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:17483715 PMID:19816270 PMID:20116044 PMID:23718193 PMID:24675553 More... NCBI chr10:128,460,398...128,462,375
Ensembl chr10:128,460,403...128,462,616 		JBrowse link
G Rps28 ribosomal protein S28 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis OMIM
ClinVar		 PMID:24942156 PMID:25741868 NCBI chr17:34,042,010...34,043,536
Ensembl chr17:34,038,001...34,043,536 		JBrowse link
G Tsr2 TSR2 20S rRNA accumulation ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:11424144 PMID:24942156 NCBI chr  X:149,870,090...149,879,539
Ensembl chr  X:149,870,090...149,879,539 		JBrowse link
distal arthrogryposis type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin, heavy polypeptide 3, skeletal muscle, embryonic ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 2A (Freeman-Sheldon) OMIM
ClinVar		 PMID:9536098 PMID:16642020 PMID:17576681 PMID:18695058 PMID:25256237 More... NCBI chr11:66,969,101...66,993,117
Ensembl chr11:66,969,126...66,993,117 		JBrowse link
Freeman-Sheldon syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin, heavy polypeptide 3, skeletal muscle, embryonic ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniocarpotarsal dysplasia | ClinVar Annotator: match by term: Freeman-Sheldon syndrome		 CTD
ClinVar		 PMID:9536098 PMID:16642020 PMID:17576681 PMID:18414213 PMID:18695058 More... NCBI chr11:66,969,101...66,993,117
Ensembl chr11:66,969,126...66,993,117 		JBrowse link
frontonasal dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 aristaless-like homeobox 4 ISO ClinVar Annotator: match by term: Frontonasal dysplasia 2 ClinVar
OMIM		 PMID:19692347 PMID:22140057 PMID:24668755 PMID:25741868 PMID:28492532 NCBI chr 2:93,472,779...93,511,686
Ensembl chr 2:93,472,729...93,511,684 		JBrowse link
Gillessen-Kaesbach-Nishimura Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg9 asparagine-linked glycosylation 9 (alpha 1,2 mannosyltransferase) ISO ClinVar Annotator: match by term: Gillessen-Kaesbach-Nishimura syndrome | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE, WITH MICROBRACHYCEPHALY, HYPERTELORISM, AND BRACHYMELIA OMIM
ClinVar		 PMID:25741868 PMID:25966638 PMID:26467025 PMID:27391121 PMID:28492532 More... NCBI chr 9:50,686,570...50,754,939
Ensembl chr 9:50,686,319...50,754,842 		JBrowse link
Goldenhar syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxi3 forkhead box I3 ISO ClinVar Annotator: match by term: Goldenhar syndrome ClinVar PMID:28492532 NCBI chr 6:70,933,590...70,938,050
Ensembl chr 6:70,933,515...70,938,050 		JBrowse link
G Frk fyn-related kinase ISO ClinVar Annotator: match by term: Goldenhar syndrome ClinVar NCBI chr10:34,359,396...34,487,530
Ensembl chr10:34,359,395...34,487,274 		JBrowse link
G Pax1 paired box 1 ISO ClinVar Annotator: match by term: Craniofacial microsomia ClinVar NCBI chr 2:147,203,850...147,216,972
Ensembl chr 2:147,203,845...147,235,215 		JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: Craniofacial microsomia OMIM
ClinVar		 PMID:7811205 PMID:34344887 NCBI chr19:5,323,949...5,345,485
Ensembl chr19:5,323,960...5,345,483 		JBrowse link
G Zic3 zinc finger protein of the cerebellum 3 IAGP OMIM:164210 MouseDO NCBI chr  X:57,075,988...57,081,990
Ensembl chr  X:57,068,060...57,087,096 		JBrowse link
G Zyg11b zyg-ll family member B, cell cycle regulator ISO ClinVar Annotator: match by term: Goldenhar syndrome ClinVar PMID:25741868 PMID:32738032 NCBI chr 4:108,084,952...108,158,330
Ensembl chr 4:108,086,921...108,158,293 		JBrowse link
Greig cephalopolysyndactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:25741868 NCBI chr16:4,102,750...4,255,094
Ensembl chr16:4,105,393...4,238,362 		JBrowse link
G Cdk13 cyclin dependent kinase 13 ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 More... NCBI chr13:17,885,309...17,979,960
Ensembl chr13:17,884,900...17,979,682 		JBrowse link
G Coro7 coronin 7 ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:25741868 NCBI chr16:4,444,748...4,497,584
Ensembl chr16:4,443,997...4,497,641 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:25741868 NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861 		JBrowse link
G Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:25741868 NCBI chr16:4,501,934...4,525,559
Ensembl chr16:4,457,853...4,525,559 		JBrowse link
G Dnase1 deoxyribonuclease I ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:25741868 NCBI chr16:3,855,007...3,857,888
Ensembl chr16:3,854,806...3,857,888 		JBrowse link
G Gli3 GLI-Kruppel family member GLI3 ISO
IAGP		 DNA:nonsense mutations, missense mutations, splice-site mutations:exon, intron:multiple
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome | ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome, severe | ClinVar Annotator: match by term: Polysyndactyly with peculiar skull shape
OMIM:175700
DNA:mutations:exon, intron:multiple
DNA:mutations: :multiple
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1879832 PMID:6641002 PMID:9302279 PMID:9536098 PMID:10441342 More... RGD:12738208, RGD:12738222, RGD:12738205, RGD:12738141 NCBI chr13:15,638,308...15,904,611
Ensembl chr13:15,637,820...15,904,611 		JBrowse link
G Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:25741868 NCBI chr16:4,412,217...4,443,076
Ensembl chr16:4,412,577...4,442,788 		JBrowse link
G Inhba inhibin beta-A ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 More... NCBI chr13:16,178,841...16,206,194
Ensembl chr13:16,186,436...16,206,206 		JBrowse link
G Mplkip M-phase specific PLK1 intereacting protein ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 More... NCBI chr13:17,869,998...17,873,697
Ensembl chr13:17,869,777...17,874,333 		JBrowse link
G Pam16 presequence translocase-asssociated motor 16 ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:25741868 NCBI chr16:4,434,330...4,442,810
Ensembl chr16:4,434,328...4,442,852 		JBrowse link
G Rala v-ral simian leukemia viral oncogene A (ras related) ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 More... NCBI chr13:18,055,160...18,118,802
Ensembl chr13:18,055,156...18,118,824 		JBrowse link
G Srl sarcalumenin ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:25741868 NCBI chr16:4,294,843...4,359,772
Ensembl chr16:4,298,080...4,359,680 		JBrowse link
G Sugct succinyl-CoA glutarate-CoA transferase ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 More... NCBI chr13:17,032,057...17,869,380
Ensembl chr13:17,032,057...17,870,138 		JBrowse link
G Tfap4 transcription factor AP4 ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:25741868 NCBI chr16:4,362,525...4,378,625
Ensembl chr16:4,362,525...4,377,718 		JBrowse link
G Trap1 TNF receptor-associated protein 1 ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:25741868 NCBI chr16:3,857,835...3,895,704
Ensembl chr16:3,857,835...3,895,691 		JBrowse link
G Vasn vasorin ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:25741868 NCBI chr16:4,457,809...4,469,030
Ensembl chr16:4,457,805...4,468,666 		JBrowse link
Jackson-Weiss syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome OMIM
ClinVar		 PMID:1456217 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 More... NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome
DNA:missense mutation:cds:p.R344G (human)		 OMIM
ClinVar
RGD		 PMID:1641873 PMID:7581378 PMID:7655462 PMID:7719329 PMID:7719344 More... RGD:12801470 NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
Loeys-Dietz syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen, type III, alpha 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:2049575 PMID:21086191 PMID:24033266 PMID:25637381 PMID:25741868 More... NCBI chr 1:45,350,698...45,388,866
Ensembl chr 1:45,350,698...45,388,866 		JBrowse link
G Col5a1 collagen, type V, alpha 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:27,776,393...27,929,522
Ensembl chr 2:27,776,437...27,929,526 		JBrowse link
G Col5a2 collagen, type V, alpha 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar NCBI chr 1:45,413,491...45,542,442
Ensembl chr 1:45,413,481...45,542,442 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:1729284 PMID:7611299 PMID:8880577 PMID:8882780 PMID:10766875 More... NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:58,141,689...58,343,200
Ensembl chr18:58,141,695...58,343,559 		JBrowse link
G Myh11 myosin, heavy polypeptide 11, smooth muscle ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:7923625 PMID:10199307 PMID:10854329 PMID:14722581 PMID:16444274 More... NCBI chr16:14,012,392...14,109,227
Ensembl chr16:14,012,399...14,109,236 		JBrowse link
G Mylk myosin, light polypeptide kinase ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:28492532 NCBI chr16:34,565,569...34,822,806
Ensembl chr16:34,565,580...34,822,790 		JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A		 CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21217753 PMID:21778426 More... NCBI chr 9:63,554,048...63,665,276
Ensembl chr 9:63,554,049...63,665,276 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome
OMIM:609192 | OMIM:610168 | OMIM:613795 | OMIM:614816		 CTD
ClinVar
MouseDO		 PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 More... NCBI chr 1:186,354,984...186,441,504
Ensembl chr 1:186,354,989...186,438,186 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr12:86,103,517...86,125,815
Ensembl chr12:86,103,519...86,125,815 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor I ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
OMIM:609192 | OMIM:610168 | OMIM:613795 | OMIM:614816		 CTD
ClinVar
MouseDO		 PMID:2647812 PMID:15731757 PMID:16596670 PMID:16791849 PMID:16799921 More... NCBI chr 4:47,353,222...47,414,926
Ensembl chr 4:47,353,222...47,414,931 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor II ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
OMIM:609192 | OMIM:610168 | OMIM:613795 | OMIM:614816		 CTD
ClinVar
MouseDO		 PMID:8246946 PMID:9395234 PMID:9536098 PMID:9590282 PMID:9771922 More... NCBI chr 9:115,916,763...116,004,431
Ensembl chr 9:115,913,361...116,004,428 		JBrowse link
Loeys-Dietz syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbr1 transforming growth factor, beta receptor I susceptibility ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 ClinVar
OMIM		 PMID:2647812 PMID:15731757 PMID:16596670 PMID:16791849 PMID:16799921 More... NCBI chr 4:47,353,222...47,414,926
Ensembl chr 4:47,353,222...47,414,931 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor II ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 ClinVar PMID:16251899 PMID:16928994 PMID:18781618 PMID:18852674 PMID:19006214 More... NCBI chr 9:115,916,763...116,004,431
Ensembl chr 9:115,913,361...116,004,428 		JBrowse link
Loeys-Dietz syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections ClinVar PMID:1301946 PMID:1569206 PMID:2005308 PMID:3495735 PMID:4750422 More... NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor II ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections		 OMIM
ClinVar		 PMID:8246946 PMID:8317497 PMID:9536098 PMID:9590282 PMID:9771922 More... NCBI chr 9:115,916,763...116,004,431
Ensembl chr 9:115,913,361...116,004,428 		JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 2
ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections		 ClinVar PMID:9536098 PMID:16247757 PMID:17576681 PMID:23861362 PMID:24033266 More... NCBI chr10:90,983,433...91,017,614
Ensembl chr10:90,983,433...91,017,177 		JBrowse link
Loeys-Dietz syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C OMIM
ClinVar		 PMID:15350224 PMID:16828225 PMID:17725494 PMID:21217753 PMID:21778426 More... NCBI chr 9:63,554,048...63,665,276
Ensembl chr 9:63,554,049...63,665,276 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 ClinVar PMID:28492532 PMID:30796334 NCBI chr 9:63,860,358...63,929,374
Ensembl chr 9:63,860,358...63,929,341 		JBrowse link
Loeys-Dietz syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aida axin interactor, dorsalization associated ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:183,078,604...183,105,356
Ensembl chr 1:183,078,134...183,106,331 		JBrowse link
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:185,061,619...185,089,974
Ensembl chr 1:185,064,346...185,089,974 		JBrowse link
G Brox BRO1 domain and CAAX motif containing ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:183,057,916...183,078,839
Ensembl chr 1:183,057,916...183,078,813 		JBrowse link
G C130074G19Rik RIKEN cDNA C130074G19 gene ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:184,604,123...184,615,233
Ensembl chr 1:184,604,123...184,615,415 		JBrowse link
G Disp1 dispatched RND transporter family member 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:182,867,828...183,010,257
Ensembl chr 1:182,867,830...183,003,086 		JBrowse link
G Dusp10 dual specificity phosphatase 10 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:183,766,575...183,807,833
Ensembl chr 1:183,745,499...183,807,833 		JBrowse link
G Eprs glutamyl-prolyl-tRNA synthetase ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:185,093,614...185,160,557
Ensembl chr 1:185,095,241...185,160,557 		JBrowse link
G Esrrg estrogen-related receptor gamma ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:187,340,707...187,947,082
Ensembl chr 1:187,340,988...187,947,082 		JBrowse link
G Fam177b family with sequence similarity 177 member B ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:183,010,580...183,057,296 JBrowse link
G Gpatch2 G patch domain containing 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:186,946,855...187,103,839
Ensembl chr 1:186,947,705...187,083,901 		JBrowse link
G Hhipl2 hedgehog interacting protein-like 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:183,195,395...183,217,962
Ensembl chr 1:183,199,147...183,217,717 		JBrowse link
G Hlx H2.0-like homeobox ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:184,459,340...184,464,690
Ensembl chr 1:184,459,337...184,464,816 		JBrowse link
G Iars2 isoleucine-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:185,018,839...185,061,615
Ensembl chr 1:185,016,923...185,061,593 		JBrowse link
G Kcnk2 potassium channel, subfamily K, member 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:188,940,127...189,134,951
Ensembl chr 1:188,940,127...189,134,470 		JBrowse link
G Kctd3 potassium channel tetramerisation domain containing 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:188,703,292...188,740,095
Ensembl chr 1:188,703,292...188,740,038 		JBrowse link
G Lyplal1 lysophospholipase-like 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:185,819,929...185,849,507
Ensembl chr 1:185,819,928...185,849,507 		JBrowse link
G Mark1 MAP/microtubule affinity regulating kinase 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:184,628,621...184,732,152
Ensembl chr 1:184,628,986...184,731,767 		JBrowse link
G Mia3 MIA SH3 domain ER export factor 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:183,107,091...183,151,091
Ensembl chr 1:183,107,682...183,150,894 		JBrowse link
G Mir194-1 microRNA 194-1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:185,045,516...185,045,582
Ensembl chr 1:185,045,516...185,045,582 		JBrowse link
G Mir215 microRNA 215 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:185,045,778...185,045,889
Ensembl chr 1:185,045,778...185,045,889 		JBrowse link
G Mtarc1 mitochondrial amidoxime reducing component 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:184,518,964...184,543,622
Ensembl chr 1:184,518,964...184,543,510 		JBrowse link
G Mtarc2 mitochondrial amidoxime reducing component 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:184,545,263...184,579,266
Ensembl chr 1:184,545,265...184,578,648 		JBrowse link
G Rab3gap2 RAB3 GTPase activating protein subunit 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:184,936,287...185,018,953
Ensembl chr 1:184,936,314...185,018,956 		JBrowse link
G Rrp15 ribosomal RNA processing 15 homolog ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:186,453,283...186,481,555
Ensembl chr 1:186,453,175...186,481,555 		JBrowse link
G Slc30a10 solute carrier family 30, member 10 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:185,187,045...185,200,959
Ensembl chr 1:185,187,045...185,200,959 		JBrowse link
G Spata17 spermatogenesis associated 17 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:186,741,811...186,947,705
Ensembl chr 1:186,776,845...186,947,662 		JBrowse link
G Taf1a TATA-box binding protein associated factor, RNA polymerase I, A ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:183,170,225...183,195,776
Ensembl chr 1:183,170,325...183,191,020 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 OMIM
ClinVar		 PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 More... NCBI chr 1:186,354,984...186,441,504
Ensembl chr 1:186,354,989...186,438,186 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:2618446 PMID:24798638 PMID:25741868 PMID:25835445 PMID:28425089 More... NCBI chr12:86,103,517...86,125,815
Ensembl chr12:86,103,519...86,125,815 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		JBrowse link
Loeys-Dietz syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 5 | ClinVar Annotator: match by term: Rienhoff syndrome OMIM
ClinVar		 PMID:2618446 PMID:7737999 PMID:9536098 PMID:9683588 PMID:12529708 More... NCBI chr12:86,103,517...86,125,815
Ensembl chr12:86,103,519...86,125,815 		JBrowse link
LOEYS-DIETZ SYNDROME 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad2 SMAD family member 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 6 OMIM
ClinVar		 PMID:15210694 PMID:25741868 PMID:26247899 PMID:28283438 PMID:28492532 More... NCBI chr18:76,369,898...76,444,819
Ensembl chr18:76,374,651...76,444,034 		JBrowse link
Loeys-Dietz Syndrome, Type 1b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbr2 transforming growth factor, beta receptor II ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1B ClinVar PMID:8246946 PMID:9536098 PMID:9590282 PMID:9771922 PMID:9927040 More... NCBI chr 9:115,916,763...116,004,431
Ensembl chr 9:115,913,361...116,004,428 		JBrowse link
Lowry Maclean syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pms2 PMS1 homolog2, mismatch repair system component ISO ClinVar Annotator: match by term: Lowry-MacLean syndrome | ClinVar Annotator: match by term: Mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure ClinVar PMID:22949387 PMID:23499907 PMID:25186627 PMID:25741868 PMID:26320870 More... NCBI chr 5:143,846,379...143,922,538
Ensembl chr 5:143,869,853...143,922,537
Ensembl chr 5:143,869,853...143,922,537 		JBrowse link
Mandibulofacial Dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO DNA:mutations:multiple (human) RGD PMID:23188108 RGD:10045556 NCBI chr11:102,729,298...102,771,999
Ensembl chr11:102,729,299...102,771,811 		JBrowse link
G Polr1c polymerase (RNA) I polypeptide C ISO CTD Direct Evidence: marker/mechanism CTD PMID:21131976 NCBI chr17:46,554,846...46,558,971
Ensembl chr17:46,554,846...46,558,980 		JBrowse link
G Polr1d polymerase (RNA) I polypeptide D ISO CTD Direct Evidence: marker/mechanism CTD PMID:21131976 NCBI chr 5:147,013,525...147,048,171
Ensembl chr 5:147,013,860...147,048,407 		JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16938878 NCBI chr18:60,946,827...60,982,055
Ensembl chr18:60,946,827...60,982,043 		JBrowse link
mandibulofacial dysostosis with alopecia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednra endothelin receptor type A ISO
IAGP		 ClinVar Annotator: match by term: Mandibulofacial dysostosis with alopecia
OMIM:616367		 OMIM
ClinVar
MouseDO		 PMID:16116593 PMID:20583178 PMID:25741868 PMID:25772936 PMID:28492532 NCBI chr 8:78,389,658...78,451,081
Ensembl chr 8:78,389,660...78,451,093 		JBrowse link
Mandibulofacial Dysostosis with Mental Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP-binding cassette, sub-family A (ABC1), member 4 ISO ClinVar Annotator: match by term: Mandibulofacial dysostosis with mental deficiency ClinVar PMID:9973280 PMID:10396622 PMID:11017087 PMID:11527935 PMID:11726554 More... NCBI chr 3:121,837,547...121,973,719
Ensembl chr 3:121,838,092...121,973,772 		JBrowse link
mandibulofacial dysostosis, Guion-Almeida type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO ClinVar Annotator: match by term: Mandibulofacial dysostosis-microcephaly syndrome
DNA:mutations:multiple (human)		 OMIM
ClinVar
RGD		 PMID:16199547 PMID:16760738 PMID:19334086 PMID:22305528 PMID:22541558 More... RGD:10045557 NCBI chr11:102,729,298...102,771,999
Ensembl chr11:102,729,299...102,771,811 		JBrowse link
Muenke syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO
IAGP		 ClinVar Annotator: match by term: Muenke syndrome | ClinVar Annotator: match by term: Syndrome of coronal craniosynostosis
OMIM:602849		 OMIM
ClinVar
MouseDO		 PMID:1908846 PMID:7647778 PMID:7773297 PMID:8589699 PMID:8723106 More... NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
Nager acrofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sf3b4 splicing factor 3b, subunit 4 ISO ClinVar Annotator: match by term: Nager syndrome
DNA:mutations:exon:multiple (human)
DNA:mutations, haploinsufficiency:exon:multiple (human)		 OMIM
ClinVar
RGD		 PMID:22541558 PMID:23568615 PMID:24003905 PMID:25741868 PMID:28492532 More... RGD:155804295, RGD:11062353 NCBI chr 3:96,079,822...96,084,880
Ensembl chr 3:96,079,648...96,084,880 		JBrowse link
Nonsyndromic Trigonocephaly 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: Trigonocephaly, nonsyndromic ClinVar NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734 		JBrowse link
G Frem1 Fras1 related extracellular matrix protein 1 ISO
IAGP		 DNA:deletion, duplication,missense mutation:cds:
DNA:mutations:cds:		 RGD PMID:21931569 PMID:21931569 RGD:11554186, RGD:11554186 NCBI chr 4:82,816,157...82,970,743
Ensembl chr 4:82,816,157...82,970,576 		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: Oculomaxillofacial dysostosis OMIM
ClinVar		 PMID:21703590 PMID:25741868 PMID:28492532 NCBI chr10:75,047,872...75,148,234
Ensembl chr10:75,047,905...75,148,577 		JBrowse link
Patterson Stevenson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb region 1 ISO ClinVar Annotator: match by term: POLYDACTYLY OF TRIPHALANGEAL THUMB | ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME | ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome OMIM
ClinVar		 PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:17300748 More... NCBI chr 5:29,434,800...29,583,414
Ensembl chr 5:29,434,800...29,583,388 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME ClinVar PMID:12204003 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412 		JBrowse link
G Rnf32 ring finger protein 32 ISO ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630 NCBI chr 5:29,397,743...29,432,633
Ensembl chr 5:29,400,990...29,433,455 		JBrowse link
G Shh sonic hedgehog ISO DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254 		JBrowse link
G Zrs1 zone of polarising activity regulatory sequence 1 ISO ClinVar Annotator: match by term: POLYDACTYLY OF TRIPHALANGEAL THUMB | ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME | ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:17300748 More... NCBI chr 5:29,519,495...29,520,860 JBrowse link
Pfeiffer syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 fibroblast growth factor receptor 1 ISO
IAGP		 ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 | ClinVar Annotator: match by term: Pfeiffer syndrome
OMIM:101600		 OMIM
ClinVar
MouseDO		 PMID:1456217 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 More... NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO
IAGP		 ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 | ClinVar Annotator: match by term: Pfeiffer syndrome
DNA:mutations:CDS:multiple (human)
DNA:SNPs, missense mutation:splice junction, CDS:multiple (human)
OMIM:101600		 OMIM
ClinVar
MouseDO
RGD		 PMID:1641873 PMID:7581378 PMID:7607643 PMID:7655462 PMID:7719333 More... RGD:155782906, RGD:155663661 NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
postaxial acrofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhodh dihydroorotate dehydrogenase ISO ClinVar Annotator: match by term: Miller syndrome OMIM
ClinVar		 PMID:19915526 PMID:20220176 PMID:21346561 PMID:22692683 PMID:22967083 More... NCBI chr 8:110,319,876...110,335,330
Ensembl chr 8:110,317,975...110,335,305 		JBrowse link
Robinow Sorauf Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twist1 twist basic helix-loop-helix transcription factor 1 ISO ClinVar Annotator: match by term: Acrocephalosyndactyly, Robinow-Sorauf type | ClinVar Annotator: match by term: Robinow-Sorauf syndrome OMIM
ClinVar		 PMID:1240778 PMID:10465122 PMID:10749989 PMID:12791045 PMID:16251895 More... NCBI chr12:34,007,670...34,009,830
Ensembl chr12:34,007,670...34,009,828 		JBrowse link
Saethre-Chotzen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Chotzen syndrome | ClinVar Annotator: match by term: Saethre-Chotzen syndrome OMIM
ClinVar		 PMID:1641873 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Saethre-Chotzen syndrome ClinVar PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 More... NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
G Twist1 twist basic helix-loop-helix transcription factor 1 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ACS III | ClinVar Annotator: match by term: Chotzen syndrome | ClinVar Annotator: match by term: Saethre-Chotzen syndrome
OMIM:101400		 CTD
ClinVar
OMIM
MouseDO		 PMID:1240778 PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 More... NCBI chr12:34,007,670...34,009,830
Ensembl chr12:34,007,670...34,009,828 		JBrowse link
Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND IMPAIRED INTELLECTUAL DEVELOPMENT OMIM
ClinVar		 PMID:1641873 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
Shprintzen-Goldberg Craniosynostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 9430015G10Rik RIKEN cDNA 9430015G10 gene ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 4:156,194,455...156,211,720
Ensembl chr 4:156,194,439...156,211,722 		JBrowse link
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 4:155,976,332...155,991,708
Ensembl chr 4:155,976,279...155,991,708 		JBrowse link
G Actrt2 actin-related protein T2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 4:154,750,885...154,752,324
Ensembl chr 4:154,750,890...154,752,324 		JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 4:156,249,747...156,281,997
Ensembl chr 4:156,249,747...156,281,945 		JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 4:155,875,432...155,884,132
Ensembl chr 4:155,874,896...155,877,659 		JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 4:155,825,097...155,845,579
Ensembl chr 4:155,825,098...155,845,550 		JBrowse link
G Aurkaip1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 4:155,915,709...155,917,555
Ensembl chr 4:155,915,729...155,917,587 		JBrowse link
G B3galt6 UDP-Gal:betaGal beta 1,3-g