Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:dysostosis
go back to main search page
Accession:DOID:1934 term browser browse the term
Definition:Defective bone formation involving individual bones, singly or in combination.
Synonyms:exact_synonym: dysostoses
 primary_id: MESH:D004413;   RDO:0000732
 xref: NCI:C34560
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16685646 NCBI chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841
JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO DNA:nonsense mutations, missense mutation RGD PMID:10742114 RGD:1599775 NCBI chr 1:85,485,875...85,493,683
Ensembl chr 1:85,485,289...85,493,685
JBrowse link
G Efnb1 ephrin B1 ISO DNA:missense mutations, deletion RGD PMID:15124102 RGD:1599802 NCBI chr  X:68,891,227...68,904,034
Ensembl chr  X:68,891,227...68,904,038
JBrowse link
G Kif3a kinesin family member 3a ISS MouseDO NCBI chr10:38,918,705...38,953,958
Ensembl chr10:38,918,748...38,952,785
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: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532, PMID:29407414 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Ahsg alpha-2-HS-glycoprotein ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532, PMID:29407414 NCBI chr11:81,711,269...81,717,594 JBrowse link
G Colec11 collectin sub-family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr 6:47,857,767...47,889,961
Ensembl chr 6:47,857,771...47,890,033
JBrowse link
G Crygs crystallin, gamma S ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532, PMID:29407414 NCBI chr11:81,796,891...81,802,172
Ensembl chr11:81,796,891...81,802,172
JBrowse link
G Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532, PMID:29407414 NCBI chr11:81,741,342...81,757,806
Ensembl chr11:81,741,297...81,757,813
JBrowse link
G Eif4a2 eukaryotic translation initiation factor 4A2 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532, PMID:29407414 NCBI chr11:81,373,047...81,379,680
Ensembl chr11:81,373,048...81,379,871
JBrowse link
G Fetub fetuin B ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532, PMID:29407414 NCBI chr11:81,648,890...81,660,472
Ensembl chr11:81,648,885...81,660,395
JBrowse link
G Hrg histidine-rich glycoprotein ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532, PMID:29407414 NCBI chr11:81,621,274...81,639,938
Ensembl chr11:81,621,283...81,639,952
JBrowse link
G Kng2 kininogen 2 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532, PMID:29407414 NCBI chr11:81,509,185...81,516,759 JBrowse link
G Masp1 mannan-binding lectin serine peptidase 1 ISO ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by OMIM:257920
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:17937425, PMID:18266249, PMID:21035106, PMID:21258343, PMID:22966085, PMID:25741868, PMID:28492532, PMID:28794230, PMID:29407414 NCBI chr11:80,736,424...80,806,278
Ensembl chr11:80,736,576...80,803,382
JBrowse link
G Rfc4 replication factor C subunit 4 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532, PMID:29407414 NCBI chr11:81,358,592...81,373,044
Ensembl chr11:81,358,592...81,373,043
JBrowse link
G Rpl39l ribosomal protein L39-like ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532, PMID:29407414 NCBI chr10:5,529,580...5,533,695
Ensembl chr10:5,529,589...5,533,695
JBrowse link
G Rtp1 receptor (chemosensory) transporter protein 1 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532, PMID:29407414 NCBI chr11:80,823,989...80,826,505
Ensembl chr11:80,823,989...80,826,505
JBrowse link
G St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532, PMID:29407414 NCBI chr11:80,927,601...80,981,424
Ensembl chr11:80,927,601...80,981,422
JBrowse link
G Tbccd1 TBCC domain containing 1 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532, PMID:29407414 NCBI chr11:81,757,963...81,794,367
Ensembl chr11:81,757,983...81,794,580
JBrowse link
acrocapitofemoral dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ihh Indian hedgehog signaling molecule ISO DNA:point mutations:CDS:p.P46L (137C>T), p.V190A (T569T>C) (human)
ClinVar Annotator: match by term: Acrocapitofemoral dysplasia
ClinVar Annotator: match by OMIM:607778
ClinVar
OMIM
PMID:12632327, PMID:12632327 RGD:1600033 NCBI chr 9:82,208,223...82,214,440
Ensembl chr 9:82,208,223...82,214,440
JBrowse link
acrocephalosyndactylia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO DNA:missense mutation: :p.P252R (human) RGD PMID:7874169, PMID:25251565 RGD:11567243, RGD:11567271 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 severity
treatment
ISO ClinVar Annotator: match by term: Acrocephalosyndactyly type I
ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly
ClinVar Annotator: match by term: Apert syndrome
ClinVar Annotator: match by term: Craniofacial-skeletal-dermatologic dysplasia
ClinVar Annotator: match by term: Saethre-Chotzen syndrome
DNA:missense mutation:cds:p.P253R (human)
DNA:missense mutation:cds:p.A172F (human)
DNA:missense mutations:cds:p.S252W, p.P253R (human)
ClinVar Annotator: match by OMIM:101200
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:
OMIM
ClinVar
CTD
PMID:7558045, PMID:7607643, PMID:7655462, PMID:7668257, PMID:7719344, PMID:7719345, PMID:7773284, PMID:7874170, PMID:7987400, PMID:8650126, PMID:8651276, PMID:8696350, PMID:8755573, PMID:8946174, PMID:8957519, PMID:9002682, PMID:9150725, PMID:9462761, PMID:9475591, PMID:9502772, PMID:9677057, PMID:9700203, PMID:9719378, PMID:9973282, PMID:10394936, PMID:10851026, PMID:11121055, PMID:11390973, PMID:11781872, PMID:12000365, PMID:12124745, PMID:12145519, PMID:12400058, PMID:12900900, PMID:14499350, PMID:15286168, PMID:15316116, PMID:15389579, PMID:15863034, PMID:15975938, PMID:16158432, PMID:16418739, PMID:16440883, PMID:16531735, PMID:16838304, PMID:16969861, PMID:17251833, PMID:17264867, PMID:17525745, PMID:17694057, PMID:18552176, PMID:18618990, PMID:19186770, PMID:20133659, PMID:20301628, PMID:20489451, PMID:20503384, PMID:20856019, PMID:21367659, PMID:21397175, PMID:22238366, PMID:22558232, PMID:22664175, PMID:23002168, PMID:23431754, PMID:23495007, PMID:23546041, PMID:23786770, PMID:24036790, PMID:24127277, PMID:24489893, PMID:24656465, PMID:24728327, PMID:25157968, PMID:25271085, PMID:25425289, PMID:25706251, PMID:25741868, PMID:25867380, PMID:25937001, PMID:26380986, PMID:26429889, PMID:26467025, PMID:26619011, PMID:27079505, PMID:27683237, PMID:28492532, PMID:30311386, PMID:31145570, PMID:10735635, PMID:23532954, PMID:17694057, PMID:9677057, PMID:7668257 RGD:12801488, RGD:12801475, RGD:12801474, RGD:12801413, RGD:8547743 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO SCS,OMIM:101400;DNA:point mutation:exon:Y103X,Q119P
CTD Direct Evidence: marker/mechanism
CTD PMID:15923834, PMID:23354436, PMID:8988166 RGD:1624353 NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214
JBrowse link
acrodysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20a FAM20A, golgi associated secretory pathway pseudokinase ISO ClinVar Annotator: match by term: Acrodysostosis ClinVar PMID:28492532 NCBI chr10:97,962,467...98,017,171
Ensembl chr10:97,962,693...98,018,014
JBrowse link
G Pde4d phosphodiesterase 4D ISO ClinVar Annotator: match by term: Acrodysostosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868, PMID:28492532 NCBI chr 2:40,219,999...41,468,551
Ensembl chr 2:40,554,146...41,464,264
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Acrodysostosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868, PMID:27825928, PMID:28492532 NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
JBrowse link
Acrodysostosis 1, with or without Hormone Resistance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20a FAM20A, golgi associated secretory pathway pseudokinase ISO ClinVar Annotator: match by term: Acrodysostosis 1 with or without hormone resistance ClinVar PMID:11200992, PMID:21651393, PMID:22464250, PMID:22464252, PMID:23043190, PMID:23425300, PMID:25741868 NCBI chr10:97,962,467...98,017,171
Ensembl chr10:97,962,693...98,018,014
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Acrodysostosis 1 with or without hormone resistance
ClinVar Annotator: match by OMIM:101800
OMIM
ClinVar
PMID:11200992, PMID:21651393, PMID:22464250, PMID:22464252, PMID:23043190, PMID:23425300, PMID:25741868, PMID:28051113, PMID:28492532, PMID:29264456 NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
JBrowse link
Acrodysostosis 2, with or without Hormone Resistance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Depdc1b DEP domain containing 1B ISO ClinVar Annotator: match by term: Acrodysostosis 2, with or without hormone resistance ClinVar PMID:21681106, PMID:24203977 NCBI chr 2:39,980,796...40,069,982
Ensembl chr 2:40,000,313...40,069,975
JBrowse link
G Pde4d phosphodiesterase 4D ISO ClinVar Annotator: match by term: Acrodysostosis 2, with or without hormone resistance
ClinVar Annotator: match by OMIM:614613
OMIM
ClinVar
PMID:11200992, PMID:21681106, PMID:22464250, PMID:22464252, PMID:23033274, PMID:24033266, PMID:24203977, PMID:25741868, PMID:28492532 NCBI chr 2:40,219,999...41,468,551
Ensembl chr 2:40,554,146...41,464,264
JBrowse link
acrofacial dysostosis Cincinnati type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1a RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Acrofacial dysostosis, Cincinnati type OMIM
ClinVar
PMID:25741868, PMID:25913037, PMID:28492532 NCBI chr 4:99,822,964...99,903,969
Ensembl chr 4:99,823,252...99,887,132
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, PMID:29198722 NCBI chr 2:38,978,042...39,042,886
Ensembl chr 2:38,979,865...39,007,976
JBrowse link
Antley-Bixler 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteodysgenesis, multisynostotic with fractures
ClinVar Annotator: match by term: Antley-Bixler Syndrome, Autosomal Dominant
DNA:missense mutations:cds:multiple (human)
CTD
ClinVar
PMID:7558045, PMID:7668257, PMID:7719344, PMID:7773284, PMID:7874170, PMID:7987400, PMID:8434615, PMID:8651276, PMID:8946174, PMID:8957519, PMID:8958319, PMID:9462761, PMID:9605588, PMID:9677057, PMID:9700203, PMID:9714439, PMID:9719378, PMID:10076886, PMID:10076887, PMID:10406670, PMID:10633130, PMID:10851026, PMID:11121055, PMID:11390973, PMID:12124745, PMID:14499350, PMID:15389579, PMID:15975938, PMID:15996217, PMID:16158432, PMID:16418739, PMID:16440883, PMID:16838304, PMID:16969861, PMID:17251833, PMID:17525745, PMID:18391498, PMID:18552176, PMID:20301628, PMID:20489451, PMID:21367659, PMID:22238366, PMID:22664175, PMID:23002168, PMID:23348274, PMID:23495007, PMID:23546041, PMID:23786770, PMID:24127277, PMID:24489893, PMID:24656465, PMID:25157968, PMID:25271085, PMID:25741868, PMID:25867380, PMID:26380986, PMID:26619011, PMID:28492532, PMID:30311386, PMID:31145570, PMID:10633130 RGD:12801485 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:613571
OMIM
ClinVar
CTD
PMID:9360545, PMID:12116245, PMID:14758361, PMID:15220035, PMID:15483095, PMID:15793702, PMID:16467261, PMID:16470797, PMID:16906539, PMID:17827787, PMID:18230729, PMID:18551037, PMID:18559916, PMID:18930113, PMID:19837910, PMID:20124576, PMID:20732302, PMID:20940534, PMID:21084761, PMID:21741353, PMID:21843508, PMID:22162478, PMID:22462747, PMID:24847272, PMID:25712184, PMID:25741868, PMID:27496950, PMID:28492532, PMID:28841001 NCBI chr12:23,998,411...24,017,063
Ensembl chr12:23,998,411...24,046,814
JBrowse link
G Tmem120a transmembrane protein 120A ISO ClinVar Annotator: match by term: Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency ClinVar NCBI chr12:23,989,596...23,998,257
Ensembl chr12:23,989,596...23,998,254
JBrowse link
Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
ClinVar Annotator: match by OMIM:201750
OMIM
ClinVar
PMID:9360545, PMID:12116245, PMID:14513299, PMID:14758361, PMID:15220035, PMID:15483095, PMID:15793702, PMID:16470797, PMID:18559916, PMID:20124576, PMID:20940534, PMID:25741868, PMID:28492532, PMID:28841001, PMID:31837199 NCBI chr12:23,998,411...24,017,063
Ensembl chr12:23,998,411...24,046,814
JBrowse link
ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR 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
ClinVar Annotator: match by term: Antley-bixler syndrome without genital anomalies or disordered steroidogenesis
OMIM
ClinVar
PMID:7558045, PMID:7668257, PMID:7719344, PMID:7719345, PMID:7773284, PMID:7874170, PMID:7987400, PMID:8434615, PMID:8528214, PMID:8644708, PMID:8651276, PMID:8946174, PMID:8957519, PMID:8958319, PMID:9385368, PMID:9462761, PMID:9586546, PMID:9605588, PMID:9677057, PMID:9700203, PMID:9714439, PMID:9719378, PMID:10076886, PMID:10076887, PMID:10406670, PMID:10541159, PMID:10633130, PMID:10851026, PMID:11121055, PMID:11390973, PMID:12124745, PMID:12884424, PMID:12884434, PMID:14499350, PMID:15389579, PMID:15975938, PMID:15996217, PMID:16158432, PMID:16418739, PMID:16440883, PMID:16838304, PMID:16969861, PMID:17251833, PMID:17525745, PMID:18391498, PMID:18552176, PMID:20301628, PMID:20489451, PMID:21367659, PMID:22238366, PMID:22664175, PMID:23002168, PMID:23348274, PMID:23495007, PMID:23546041, PMID:23786770, PMID:24127277, PMID:24489893, PMID:24656465, PMID:25157968, PMID:25271085, PMID:25741868, PMID:25759925, PMID:25867380, PMID:26362256, PMID:26380986, PMID:26619011, PMID:28492532, PMID:30311386, PMID:31145570 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Por cytochrome p450 oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:23,998,411...24,017,063
Ensembl chr12:23,998,411...24,046,814
JBrowse link
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT ClinVar
OMIM
PMID:29432562 NCBI chr 2:241,909,332...242,186,861
Ensembl chr 2:241,909,832...242,184,854
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 type OMIM
ClinVar
PMID:11146471, PMID:23951358, PMID:25741868 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbln1 fibulin 1 ISO ClinVar Annotator: match by term: Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects ClinVar PMID:24084572 NCBI chr 7:126,096,793...126,176,468
Ensembl chr 7:126,096,793...126,176,468
JBrowse link
Baller-Gerold syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Baller-Gerold syndrome OMIM
ClinVar
PMID:9878247, PMID:10319867, PMID:10678659, PMID:12734318, PMID:12838562, PMID:12952869, PMID:15897384, PMID:15964893, PMID:16681588, PMID:17250975, PMID:17372760, PMID:18504617, PMID:18616953, PMID:18647888, PMID:18716613, PMID:19291770, PMID:20503338, PMID:21143835, PMID:21418107, PMID:22730300, PMID:22885111, PMID:23238538, PMID:23899764, PMID:24033266, PMID:24518840, PMID:24635570, PMID:24728327, PMID:25120469, PMID:25741868, PMID:25966250, PMID:26556299, PMID:27247962, PMID:27352193, PMID:28039508, PMID:28076423, PMID:28202063, PMID:28358413, PMID:28486640, PMID:28492532, PMID:28653661, PMID:29168297, PMID:29462647, PMID:29642415, PMID:30086788, PMID:30306255, PMID:30311386, PMID:30651579 NCBI chr 7:117,765,892...117,773,128
Ensembl chr 7:117,763,783...117,773,134
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 ClinVar
OMIM
PMID:25741868, PMID:25792360 NCBI chr 1:100,872,240...100,887,864
Ensembl chr 1:100,874,976...100,887,853
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 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
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:7558045, PMID:7668257, PMID:7719344, PMID:7773284, PMID:7874170, PMID:7987400, PMID:8651276, PMID:8696350, PMID:8957519, PMID:9462761, PMID:9677057, PMID:9700203, PMID:9719378, PMID:10851026, PMID:11121055, PMID:11390973, PMID:11781872, PMID:12000365, PMID:12124745, PMID:12145519, PMID:12900900, PMID:14499350, PMID:15389579, PMID:15975938, PMID:16158432, PMID:16440883, PMID:16531735, PMID:16838304, PMID:16969861, PMID:17251833, PMID:17264867, PMID:17449949, PMID:17525745, PMID:18247426, PMID:18552176, PMID:19610084, PMID:20301628, PMID:20489451, PMID:20856019, PMID:21367659, PMID:21397175, PMID:22238366, PMID:22664175, PMID:23002168, PMID:23495007, PMID:23546041, PMID:23786770, PMID:24127277, PMID:24489893, PMID:24656465, PMID:24728327, PMID:25157968, PMID:25271085, PMID:25425289, PMID:25706251, PMID:25741868, PMID:25867380, PMID:25937001, PMID:26380986, PMID:26429889, PMID:26467025, PMID:26619011, PMID:27079505, PMID:28492532, PMID:30311386, PMID:31145570 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
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 syndrome
ClinVar Annotator: match by term: C-like syndrome
ClinVar Annotator: match by OMIM:605039
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:18414213, PMID:21706002, PMID:22419483, PMID:25131622, PMID:25326635, PMID:25741868, PMID:26633542, PMID:28492532, PMID:30311386 NCBI chr 3:148,832,231...148,902,356
Ensembl chr 3:148,837,814...148,900,452
JBrowse link
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: C-like syndrome ClinVar PMID:25741868 NCBI chr 4:7,532,881...7,582,032
Ensembl chr 4:7,532,889...7,582,207
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: MACINNES SYNDROME ClinVar
OMIM
PMID:28257692 NCBI chr 2:19,823,234...19,824,804
Ensembl chr 2:19,823,234...19,824,804
JBrowse link
brachydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrx ATRX, chromatin remodeler ISO RGD PMID:23892236 RGD:9586033 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878
JBrowse link
G Bmpr1b bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:28492532 NCBI chr 2:247,392,195...247,662,026
Ensembl chr 2:247,403,920...247,446,882
JBrowse link
G Chst11 carbohydrate sulfotransferase 11 ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:29514872 NCBI chr 7:26,641,856...26,890,503
Ensembl chr 7:26,645,422...26,859,716
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:30311386 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:30311386 NCBI chr13:56,270,519...56,462,893
Ensembl chr13:56,270,781...56,462,834
JBrowse link
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:17384641, PMID:25741868, PMID:28492532 NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:12719376 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
G Hdac4 histone deacetylase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20691407 NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
JBrowse link
G Hnrnpu heterogeneous nuclear ribonucleoprotein U ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:30311386 NCBI chr13:96,222,093...96,238,845
Ensembl chr13:96,225,912...96,238,572
JBrowse link
G Hoxd13 homeo box D13 ISO DNA:missense mutations:exon:p.S308C (923C>G), p.I314L (940A>C) (human) RGD PMID:12649808 RGD:12743593 NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
JBrowse link
G Ihh Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Brachydactyly ClinVar NCBI chr 9:82,208,223...82,214,440
Ensembl chr 9:82,208,223...82,214,440
JBrowse link
G Iqce IQ motif containing E ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:31549751 NCBI chr12:16,030,607...16,069,872
Ensembl chr12:15,857,805...16,067,924
JBrowse link
G Mefv MEFV innate immuity regulator, pyrin ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:9288094, PMID:9288758, PMID:9781020, PMID:10364520, PMID:10787449, PMID:11464248, PMID:15643295, PMID:15942916, PMID:16785446, PMID:16889173, PMID:18353061, PMID:19790133, PMID:20008920, PMID:21290976, PMID:22037353, PMID:23334425, PMID:23907647, PMID:24318677, PMID:25741868, PMID:27030597, PMID:28492532, PMID:30171907, PMID:30311386 NCBI chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311
JBrowse link
G Nipbl NIPBL, cohesin loading factor ISO ClinVar Annotator: match by term: BRACHYDACTYLY ClinVar PMID:25741868 NCBI chr 2:57,508,830...57,676,197
Ensembl chr 2:57,509,428...57,600,820
JBrowse link
G Nprl3 NPR3-like, GATOR1 complex subunit ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:30311386 NCBI chr10:15,620,824...15,661,332
Ensembl chr10:15,620,871...15,661,331
JBrowse link
G Ppp2r1a protein phosphatase 2 scaffold subunit A alpha ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:25741868, PMID:26168268 NCBI chr 1:60,717,386...60,736,629
Ensembl chr 1:60,717,386...60,736,609
JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:30311386 NCBI chr  X:15,448,570...15,453,130
Ensembl chr  X:15,348,138...15,453,130
JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO ClinVar Annotator: match by term: Brachydactyly ClinVar NCBI chr17:11,953,552...12,134,386
Ensembl chr17:11,953,552...12,134,386
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:30311386 NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
JBrowse link
G Sim1 SIM bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Brachydactyly ClinVar NCBI chr20:55,590,810...55,674,002
Ensembl chr20:55,594,676...55,673,995
JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO associated with Diastrophic Dysplasia;DNA:mutations:css:p.R279W, p.R178X, p.N425D,c.727-1G>C (human) RGD PMID:21155763 RGD:11072411 NCBI chr18:56,518,999...56,534,539
Ensembl chr18:56,520,740...56,534,415
JBrowse link
G Smad4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22158539 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:11112658, PMID:18946009, PMID:24502542, PMID:25741868, PMID:25792522, PMID:28468609, PMID:28492532, PMID:30541476 NCBI chr 7:90,085,895...90,320,430
Ensembl chr 7:90,090,828...90,318,221
JBrowse link
G Tulp1 TUB like protein 1 ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:15024725, PMID:31549751 NCBI chr20:7,931,673...7,943,601
Ensembl chr20:7,931,674...7,943,575
JBrowse link
brachydactyly type A1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf5 growth differentiation factor 5 ISO DNA:missense mutation:cds:c.1195C>T(human) RGD PMID:20683927 RGD:12437076 NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
JBrowse link
G Ihh Indian hedgehog signaling molecule ISO DNA:missense mutations:CDS:p.E95K (283G>A), p.D100E (300C>A), p.E131K (391G>A) (human)
ClinVar Annotator: match by term: Type A1 brachydactyly
DNA:missense mutation:exon:p.E95G (284A>G) (human)
DNA:deletion, missense mutation:exon:p.E95del (c.283_285delGAG), p.D100E (c.300C>G) (human)
DNA:missense mutation:exon:p.158R>C (c.472C>T) (human)
DNA:deletion:exon:p.E95del (c.283_285delGAG) (human)
DNA:missense mutations:exon:p.R128Q (c.383G>A), p.T130N (c.389C>A) (human)
DNA:missense mutation: :p.N100D (298G>A) (human)
DNA:missense mutation: :p.T154I (461C>T) (human)
ClinVar Annotator: match by OMIM:112500
ClinVar
OMIM
PMID:11455389, PMID:12384778, PMID:12525541, PMID:12566523, PMID:14043746, PMID:15886999, PMID:16871364, PMID:17486609, PMID:18629882, PMID:18794898, PMID:19252479, PMID:19277064, PMID:25741868, PMID:28492532, PMID:11455389, PMID:12525541, PMID:25696018, PMID:19464397, PMID:18629882, PMID:19277064, PMID:12384778, PMID:16871364 RGD:1600032, RGD:12910974, RGD:11535949, RGD:12910970, RGD:12910965, RGD:12910964, RGD:12910945, RGD:12910944 NCBI chr 9:82,208,223...82,214,440
Ensembl chr 9:82,208,223...82,214,440
JBrowse link
G Shh sonic hedgehog signaling molecule ISO
ISS
OMIM:112500 MouseDO PMID:15841179 RGD:12798572 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
brachydactyly type A1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Brachydactyly, type a1, c OMIM
ClinVar
PMID:20683927 NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
JBrowse link
brachydactyly type A1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1b bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: Brachydactyly, type a1, d ClinVar
OMIM
PMID:25758993 NCBI chr 2:247,392,195...247,662,026
Ensembl chr 2:247,403,920...247,446,882
JBrowse link
brachydactyly type A2 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 null OMIM
ClinVar
PMID:19327734, PMID:21357617 NCBI chr 3:126,335,963...126,346,771
Ensembl chr 3:126,335,863...126,346,318
JBrowse link
G Bmpr1b bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: Brachydactyly type A2
ClinVar Annotator: match by OMIM:112600
OMIM
ClinVar
PMID:14523231, PMID:16957682, PMID:28492532 NCBI chr 2:247,392,195...247,662,026
Ensembl chr 2:247,403,920...247,446,882
JBrowse link
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by OMIM:112600 OMIM
ClinVar
PMID:12121354, PMID:16014698, PMID:16127465, PMID:18203755 NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
JBrowse link
brachydactyly type A4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxd13 homeo box D13 ISO DNA:deletion:exon:p.A53_A59del (c.157_177del) (human) RGD PMID:17236141 RGD:12738470 NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
JBrowse link
brachydactyly type B1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO ClinVar Annotator: match by term: Brachydactyly type B1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Type B brachydactyly
DNA:nonsense mutation:cds:c.2278C>T, p.Q760X (human)
DNA:deletion:exon:c.1396-1398delAA, (human)
DNA:missense mutation:cds:c.2265C>A,p.Y755X(human)
DNA:deletion mutation:exon:c.2243delC,p.W749fsX24(human)
DNA:mutation:c.2273C>A; p.S758X (human)
ClinVar Annotator: match by OMIM:113000
OMIM
ClinVar
CTD
PMID:641944, PMID:10700182, PMID:10986040, PMID:12815588, PMID:12919145, PMID:17101003, PMID:17665217, PMID:18252861, PMID:18414213, PMID:19461659, PMID:19533773, PMID:25741868, PMID:26284319, PMID:28492532, PMID:23238279, PMID:24954533, PMID:21377971, PMID:19461659, PMID:25696018 RGD:11537345, RGD:11535953, RGD:11535952, RGD:11535951, RGD:11535949 NCBI chr17:11,953,552...12,134,386
Ensembl chr17:11,953,552...12,134,386
JBrowse link
brachydactyly type B2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nog noggin no_association ISO ClinVar Annotator: match by term: Brachydactyly type B2
DNA:mutation:cds:p.G92E(human)
DNA:mutations:cds:
ClinVar Annotator: match by OMIM:611377
OMIM
ClinVar
PMID:9851982, PMID:11160400, PMID:11857750, PMID:17668388, PMID:18440889, PMID:25741868, PMID:22529972, PMID:17668388 RGD:12801483, RGD:12801481 NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
JBrowse link
brachydactyly type C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf5 growth differentiation factor 5 ISO DNA:mutation:cds:p.M173V(517A>G)(human)
DNA:missense mutations:cds:p.T201P,p.L263P (human)
DNA:missense mutation:cds:c.527T>C(p.L176P)(human)
ClinVar Annotator: match by OMIM:113100
OMIM
ClinVar
PMID:9024575, PMID:9288091, PMID:12357473, PMID:12567410, PMID:13953230, PMID:14735582, PMID:18283415, PMID:14735582, PMID:25092592, PMID:23812741 RGD:12738202, RGD:12738200, RGD:12437083 NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
JBrowse link
brachydactyly type D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxd13 homeo box D13 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:113200
OMIM
CTD
ClinVar
PMID:12620993, PMID:12649808, PMID:16314414, PMID:24239177 NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
JBrowse link
brachydactyly type E1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxd13 homeo box D13 ISO ClinVar Annotator: match by term: Brachydactyly type E1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:113300
OMIM
ClinVar
CTD
PMID:12620993, PMID:12649808, PMID:16314414, PMID:24239177, PMID:25741868 NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
JBrowse link
brachydactyly type E2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pthlh parathyroid hormone-like hormone ISO ClinVar Annotator: match by OMIM:613382 OMIM
ClinVar
PMID:20170896 NCBI chr 4:181,663,425...181,674,181 JBrowse link
Brachydactyly, Type E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac4 histone deacetylase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24715439 NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
JBrowse link
G Hoxd13 homeo box D13 ISO DNA:nonsense mutation:exon:p.R274X (c.820C>T) (human) RGD PMID:22233338 RGD:12743596 NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
JBrowse link
brachydactyly-syndactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxd13 homeo box D13 ISO ClinVar Annotator: match by term: Brachydactyly-syndactyly syndrome
ClinVar Annotator: match by term: Brachydactyly-syndactyly-oligodactyly syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:610713
OMIM
ClinVar
CTD
PMID:9758628, PMID:12649808, PMID:17236141, PMID:18177473, PMID:18399101, PMID:19429598, PMID:19686284, PMID:21814222, PMID:22233338, PMID:23995701, PMID:24239177, PMID:25741868, PMID:26581570, PMID:30311386 NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
JBrowse link
C syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd96 CD96 molecule ISO ClinVar Annotator: match by term: C syndrome
ClinVar Annotator: match by OMIM:211750
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:17847009, PMID:25741868, PMID:28492532 NCBI chr11:57,108,757...57,183,855
Ensembl chr11:57,108,956...57,183,270
JBrowse link
Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx1 paired-like homeodomain 1 ISO OMIM NCBI chr17:8,873,184...8,884,428
Ensembl chr17:8,878,270...8,884,423
JBrowse link
Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag2 BAG cochaperone 2 ISO ClinVar Annotator: match by term: Carpenter syndrome ClinVar NCBI chr 9:38,456,487...38,467,120
Ensembl chr 9:38,456,468...38,467,118
JBrowse link
G Megf8 multiple EGF-like-domains 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:82,184,671...82,234,045
Ensembl chr 1:82,185,034...82,234,045
JBrowse link
G Rab23 RAB23, member RAS oncogene family ISO ClinVar Annotator: match by term: Carpenter syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:3322002, PMID:3993675, PMID:15129947, PMID:17503333, PMID:20358613, PMID:21412941, PMID:23599695, PMID:24458945, PMID:25168863, PMID:25741868, PMID:28492532 NCBI chr 9:38,469,784...38,496,185
Ensembl chr 9:38,470,298...38,495,176
JBrowse link
Carpenter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag2 BAG cochaperone 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 1 ClinVar NCBI chr 9:38,456,487...38,467,120
Ensembl chr 9:38,456,468...38,467,118
JBrowse link
G Rab23 RAB23, member RAS oncogene family ISO ClinVar Annotator: match by term: Carpenter syndrome 1
ClinVar Annotator: match by OMIM:201000
OMIM
ClinVar
PMID:3322002, PMID:3993675, PMID:15129947, PMID:17503333, PMID:20358613, PMID:21412941, PMID:23599695, PMID:24458945, PMID:25168863, PMID:25741868, PMID:28492532 NCBI chr 9:38,469,784...38,496,185
Ensembl chr 9:38,470,298...38,495,176
JBrowse link
Carpenter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Megf8 multiple EGF-like-domains 8 ISO ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar Annotator: match by OMIM:614976
OMIM
ClinVar
PMID:23063620, PMID:25326635, PMID:25741868, PMID:28492532 NCBI chr 1:82,184,671...82,234,045
Ensembl chr 1:82,185,034...82,234,045
JBrowse link
Cenani-Lenz syndactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp4 LDL receptor related protein 4 ISO ClinVar Annotator: match by term: Cenani-Lenz syndactyly syndrome
ClinVar Annotator: match by term: SYNDACTYLY, TYPE VII
ClinVar Annotator: match by term: Syndactyly Cenani Lenz type
ClinVar Annotator: match by OMIM:212780
OMIM
ClinVar
PMID:7891385, PMID:9182770, PMID:10756427, PMID:11260233, PMID:12868467, PMID:14577675, PMID:18978656, PMID:20381006, PMID:21471202, PMID:24234652, PMID:25119311, PMID:25741868, PMID:26751728, PMID:28492532, PMID:28559208 NCBI chr 3:80,362,643...80,416,684
Ensembl chr 3:80,362,858...80,416,679
JBrowse link
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by OMIM:300863 OMIM
ClinVar
PMID:16001442, PMID:20181727 NCBI chr  X:15,295,372...15,316,673
Ensembl chr  X:15,295,473...15,316,671
JBrowse link
cleft lip-palate-ectodermal dysplasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:225060
OMIM
ClinVar
CTD
PMID:3035184, PMID:10932188, PMID:11559849, PMID:11756979, PMID:12893758, PMID:16195396, PMID:16674562, PMID:17089422, PMID:18223281, PMID:19132250, PMID:19715471, PMID:23560673, PMID:24560896, PMID:28492532 NCBI chr 8:48,094,233...48,198,499
Ensembl chr 8:48,094,673...48,157,305
JBrowse link
Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Runx2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by null ClinVar PMID:9182765 NCBI chr 9:18,564,743...18,773,092
Ensembl chr 9:18,564,927...18,773,092
JBrowse link
Cole-Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4hb prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:109,736,459...109,748,070
Ensembl chr10:109,736,458...109,747,987
JBrowse link
G Sec24d SEC24 homolog D, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:227,455,704...227,562,801
Ensembl chr 2:227,455,722...227,562,319
JBrowse link
Cole-Carpenter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4hb prolyl 4-hydroxylase subunit beta ISO ClinVar Annotator: match by term: Cole-Carpenter syndrome 1 OMIM
ClinVar
PMID:25683117 NCBI chr10:109,736,459...109,748,070
Ensembl chr10:109,736,458...109,747,987
JBrowse link
Cole-Carpenter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec24d SEC24 homolog D, COPII coat complex component ISO ClinVar Annotator: match by term: Cole-Carpenter syndrome 2
ClinVar Annotator: match by term: Cole-carpenter syndrome 2
OMIM
ClinVar
PMID:25683121, PMID:26467156, PMID:27942778, PMID:30462379 NCBI chr 2:227,455,704...227,562,801
Ensembl chr 2:227,455,722...227,562,319
JBrowse link
congenital heart defects, hamartomas of tongue, and polysyndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdpcp WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Orstavik Lindemann Solberg syndrome
ClinVar Annotator: match by term: Congenital heart defects, hamartomas of tongue, and polysyndactyly
ClinVar
OMIM
PMID:20671153, PMID:25326635, PMID:25427950, PMID:25741868, PMID:27158779, PMID:28492532 NCBI chr14:106,393,959...106,759,511
Ensembl chr14:106,393,959...106,759,505
JBrowse link
Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 8 ClinVar
OMIM
PMID:18470895, PMID:25741868, PMID:25957469, PMID:27381093, PMID:29314551, PMID:29805041, PMID:30311386 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: CONTRACTURES, PTERYGIA, AND VARIABLE SKELETAL FUSIONS SYNDROME 1B OMIM
ClinVar
PMID:29805041 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
Cousin Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx15 T-box transcription factor 15 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cousin syndrome
CTD
OMIM
ClinVar
PMID:19068278 NCBI chr 2:201,289,042...201,390,752
Ensembl chr 2:201,289,357...201,390,745
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 ClinVar Annotator: match by OMIM:218330
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cranioectodermal dysplasia
ClinVar
CTD
PMID:25741868, PMID:28492532 NCBI chr 4:147,756,574...147,826,983
Ensembl chr 4:147,756,553...147,826,997
JBrowse link
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 6:109,939,323...110,016,646
Ensembl chr 6:109,939,345...110,016,644
JBrowse link
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia ClinVar PMID:25741868 NCBI chr 6:34,071,428...34,091,048
Ensembl chr 6:34,071,428...34,091,048
JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia ClinVar NCBI chr 6:109,913,757...109,936,217
Ensembl chr 6:109,913,757...109,935,533
JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:23559409, PMID:25726036, PMID:25741868, PMID:26260382, PMID:27596865, PMID:28492532, PMID:28621010 NCBI chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120
JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22486404, PMID:24033266, PMID:25741868, PMID:25914204, PMID:28332779, PMID:28492532, PMID:29068549 NCBI chr 6:34,094,291...34,152,048
Ensembl chr 6:34,094,306...34,151,622
JBrowse link
cranioectodermal dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 ClinVar
OMIM
PMID:17022080, PMID:19760620, PMID:20493458, PMID:23826986, PMID:25741868, PMID:26792575, PMID:28370949, PMID:28492532, PMID:29037998 NCBI chr 4:147,756,574...147,826,983
Ensembl chr 4:147,756,553...147,826,997
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 NCBI chr 6:34,071,428...34,091,048
Ensembl chr 6:34,071,428...34,091,048
JBrowse link
G Spag17 sperm associated antigen 17 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar NCBI chr 2:202,159,659...202,452,361
Ensembl chr 2:202,200,797...202,443,026
JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2
DNA:missense mutation:cds:p.L520P (human)
ClinVar Annotator: match by OMIM:613610
OMIM
ClinVar
PMID:20817137, PMID:21473986, PMID:22486404, PMID:22987818, PMID:24033266, PMID:24123776, PMID:25326635, PMID:25741868, PMID:25908617, PMID:25914204, PMID:26691894, PMID:28332779, PMID:28492532, PMID:28870638, PMID:29068549, PMID:22987818 RGD:11553909 NCBI chr 6:34,094,291...34,152,048
Ensembl chr 6:34,094,306...34,151,622
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
ClinVar Annotator: match by OMIM:614099
OMIM
ClinVar
PMID:21378380 NCBI chr 6:109,939,323...110,016,646
Ensembl chr 6:109,939,345...110,016,644
JBrowse link
cranioectodermal dysplasia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 4
DNA:missense mutation:cds:p.L750P (mouse)
ClinVar Annotator: match by OMIM:614378
OMIM
ClinVar
PMID:22019273, PMID:23683095, PMID:25741868, PMID:27241786, PMID:28492532, PMID:22228095 RGD:11552606 NCBI chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120
JBrowse link
craniosynostosis 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 ClinVar PMID:25741868, PMID:31837199 NCBI chr 2:197,803,572...197,815,058
Ensembl chr 2:197,803,584...197,814,808
JBrowse link
G Alx4 ALX homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:82,548,959...82,585,531
Ensembl chr 3:82,548,959...82,585,531
JBrowse link
G Axin2 axin 2 ISS OMIM:123100 | OMIM:182212 | OMIM:600593 | OMIM:600775 | OMIM:604757 | OMIM:615314 | OMIM:615529 MouseDO NCBI chr10:97,212,483...97,238,824
Ensembl chr10:97,212,432...97,239,642
JBrowse link
G Bbs9 Bardet-Biedl syndrome 9 susceptibility ISO DNA:SNPs:introns:rs10262453,rs17724206,rs1884302(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:23160099, PMID:23160099 RGD:9684995 NCBI chr 8:23,491,929...24,074,524
Ensembl chr 8:23,492,621...24,074,536
Ensembl chr 8:23,492,621...24,074,536
JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23160099 NCBI chr 3:126,335,963...126,346,771
Ensembl chr 3:126,335,863...126,346,318
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Premature closure of cranial sutures ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Craniosynostosis ClinVar PMID:25741868, PMID:31837199 NCBI chr 4:116,261,796...116,278,615
Ensembl chr 4:116,261,796...116,278,615
JBrowse link
G Efnb1 ephrin B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15166289 NCBI chr  X:68,891,227...68,904,034
Ensembl chr  X:68,891,227...68,904,038
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: Lambdoidal craniosynostosis
ClinVar Annotator: match by term: Craniosynostosis 4
CTD
ClinVar
PMID:23354439, PMID:25741868, PMID:26097063, PMID:28492532, PMID:28808027, PMID:30758909, PMID:31837199 NCBI chr 1:82,112,449...82,120,902
Ensembl chr 1:82,112,449...82,120,902
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:26424790 NCBI chr 4:77,284,404...77,347,011
Ensembl chr 4:77,284,404...77,347,011
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Craniosynostosis ClinVar PMID:25741868, PMID:31837199 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Craniosynostosis ClinVar PMID:28492532 NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO DNA:missense mutation:exon:p.P250R (mouse)
ClinVar Annotator: match by term: Craniosynostosis
ClinVar Annotator: match by term: Craniostenosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:10629055, PMID:12627230, PMID:15365636, PMID:15605412, PMID:16764984, PMID:17154279, PMID:17360555, PMID:17963255, PMID:18160472, PMID:18985070, PMID:19707180, PMID:20696889, PMID:22378383, PMID:23329143, PMID:23657145, PMID:25064402, PMID:25383892, PMID:25425165, PMID:25741868, PMID:25759380, PMID:26467025, PMID:26931467, PMID:28492532, PMID:10942429 RGD:11567263 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO DNA:substitutions:multiple (human)
ClinVar Annotator: match by term: FGFR2 related craniosynostosis
ClinVar Annotator: match by term: Premature closure of cranial sutures
ClinVar Annotator: match by term: Craniosynostosis, nonsyndromic unicoronal
ClinVar Annotator: match by term: Craniostenosis
human cells in a rat model
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.Y105C, p.G384R (human)
ClinVar
CTD
PMID:1519658, PMID:1697263, PMID:2172978, PMID:4078868, PMID:7558045, PMID:7573032, PMID:7581378, PMID:7607643, PMID:7655462, PMID:7668257, PMID:7719344, PMID:7719345, PMID:7773284, PMID:7795583, PMID:7874170, PMID:7987400, PMID:7989400, PMID:8434615, PMID:8522336, PMID:8528214, PMID:8644708, PMID:8650126, PMID:8651276, PMID:8696350, PMID:8755573, PMID:8946174, PMID:8957519, PMID:8958319, PMID:9048930, PMID:9150725, PMID:9385368, PMID:9462761, PMID:9475591, PMID:9521581, PMID:9539778, PMID:9585583, PMID:9586546, PMID:9605588, PMID:9677057, PMID:9700203, PMID:9714439, PMID:9719378, PMID:10067911, PMID:10076886, PMID:10076887, PMID:10394936, PMID:10406670, PMID:10541159, PMID:10633130, PMID:10712195, PMID:10735635, PMID:10851026, PMID:10874645, PMID:10951518, PMID:11121055, PMID:11173845, PMID:11325814, PMID:11343323, PMID:11390973, PMID:11781872, PMID:11807866, PMID:12000365, PMID:12124745, PMID:12145519, PMID:12400058, PMID:12575301, PMID:12884424, PMID:12884434, PMID:12900900, PMID:14499350, PMID:15316116, PMID:15389579, PMID:15793702, PMID:15863034, PMID:15883293, PMID:15975938, PMID:15996217, PMID:16061565, PMID:16158432, PMID:16418739, PMID:16440883, PMID:16465081, PMID:16501574, PMID:16531735, PMID:16740155, PMID:16838304, PMID:16969861, PMID:17251833, PMID:17264867, PMID:17525745, PMID:17693524, PMID:18391498, PMID:18552176, PMID:18618990, PMID:18726952, PMID:19066959, PMID:19610084, PMID:20133659, PMID:20301628, PMID:20489451, PMID:20503384, PMID:20643727, PMID:20856019, PMID:21189955, PMID:21367659, PMID:21397175, PMID:22238366, PMID:22387015, PMID:22558232, PMID:22664175, PMID:23002168, PMID:23348274, PMID:23431754, PMID:23495007, PMID:23546041, PMID:23754559, PMID:23786770, PMID:24036790, PMID:24127277, PMID:24489893, PMID:24656465, PMID:24728327, PMID:25129254, PMID:25157968, PMID:25209230, PMID:25245177, PMID:25271085, PMID:25343114, PMID:25361936, PMID:25425289, PMID:25706251, PMID:25741868, PMID:25759925, PMID:25759927, PMID:25867380, PMID:25937001, PMID:26289989, PMID:26362256, PMID:26380986, PMID:26429889, PMID:26467025, PMID:26619011, PMID:27028366, PMID:27079505, PMID:27228464, PMID:27481450, PMID:27683237, PMID:28492532, PMID:28901406, PMID:29037998, PMID:30311386, PMID:31145570, PMID:270283566, PMID:19624690, PMID:14499350, PMID:19627528, PMID:8946174 RGD:6480630, RGD:12801469, RGD:8547554, RGD:12801484 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
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: Premature closure of cranial sutures
ClinVar Annotator: match by term: Craniosynostosis, nonspecific
ClinVar PMID:1908846, PMID:1956068, PMID:4078868, PMID:4697848, PMID:7493034, PMID:7649548, PMID:7670477, PMID:7773297, PMID:7847369, PMID:7913883, PMID:8078586, PMID:8589686, PMID:8589699, PMID:8673103, PMID:8723101, PMID:8723106, PMID:8841188, PMID:8845844, PMID:8858131, PMID:8880573, PMID:9042914, PMID:9107244, PMID:9279753, PMID:9279764, PMID:9438390, PMID:9450868, PMID:9452043, PMID:9525367, PMID:9580776, PMID:9585583, PMID:9600744, PMID:9672519, PMID:9677066, PMID:9842995, PMID:9843049, PMID:9843059, PMID:9857065, PMID:9950359, PMID:10053006, PMID:10073901, PMID:10094188, PMID:10213050, PMID:10360392, PMID:10360393, PMID:10361991, PMID:10395236, PMID:10471491, PMID:10602123, PMID:10696568, PMID:10777366, PMID:10861678, PMID:11030304, PMID:11038465, PMID:11055896, PMID:11186939, PMID:11186940, PMID:11241532, PMID:11314002, PMID:11424131, PMID:11426459, PMID:11429702, PMID:11529856, PMID:11746040, PMID:11754059, PMID:11879084, PMID:12357470, PMID:12362036, PMID:12707965, PMID:12833394, PMID:14613973, PMID:15241680, PMID:15517832, PMID:15772091, PMID:15793702, PMID:15863034, PMID:15915095, PMID:16501574, PMID:16766665, PMID:16841094, PMID:16912704, PMID:17033969, PMID:17384684, PMID:17875876, PMID:17935505, PMID:17950653, PMID:18000903, PMID:18000976, PMID:18252861, PMID:18266238, PMID:18328977, PMID:18344207, PMID:18391498, PMID:18583390, PMID:18642369, PMID:18976668, PMID:19088846, PMID:19098178, PMID:19165726, PMID:19215249, PMID:19331127, PMID:19381019, PMID:19449410, PMID:19749790, PMID:20199409, PMID:20453470, PMID:20542753, PMID:20624921, PMID:21273588, PMID:21324899, PMID:21510009, PMID:21536014, PMID:21739570, PMID:22045636, PMID:22339077, PMID:22604720, PMID:22869148, PMID:23149434, PMID:23165795, PMID:23200862, PMID:23378035, PMID:23437153, PMID:23740942, PMID:24476948, PMID:24728327, PMID:24864036, PMID:25157968, PMID:25271085, PMID:25326635, PMID:25356217, PMID:25505835, PMID:25606676, PMID:25614871, PMID:25691418, PMID:25741868, PMID:25777271, PMID:25809207, PMID:25931420, PMID:26028288, PMID:26380986, PMID:26467025, PMID:26619011, PMID:26740388, PMID:26818779, PMID:26887047, PMID:26992226, PMID:27139183, PMID:28249712, PMID:28492532, PMID:30311386, PMID:30681580, PMID:32238909, PMID:11467490 RGD:11568028 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
G Flna filamin A ISO DNA:missense mutations:cds:multiple (human) RGD PMID:25873011 RGD:11531800 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:101,018,009...101,166,794
Ensembl chr 5:101,020,448...101,166,651
JBrowse link
G Ift122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chr 4:147,756,574...147,826,983
Ensembl chr 4:147,756,553...147,826,997
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO ClinVar Annotator: match by term: Craniosynostosis ClinVar PMID:25741868, PMID:31837199 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Craniosynostosis ClinVar PMID:25741868, PMID:31837199 NCBI chr 5:58,149,150...58,159,072
Ensembl chr 5:58,151,985...58,159,072
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Premature closure of cranial sutures ClinVar PMID:2526018, PMID:10739751, PMID:11102973, PMID:11180602, PMID:15060110, PMID:15770669, PMID:16585054, PMID:18478590, PMID:18795223, PMID:18926329, PMID:19875404, PMID:20497714, PMID:20848652, PMID:21831885, PMID:21980471, PMID:22177269, PMID:22199124, PMID:22276265, PMID:22355414, PMID:22526018, PMID:22570643, PMID:23349452, PMID:23861362, PMID:24033266, PMID:24503780, PMID:24623722, PMID:25025039, PMID:25448463, PMID:25637381, PMID:25741868, PMID:25873806, PMID:26467025, PMID:26498160, PMID:27000522, PMID:27153395, PMID:27447704, PMID:27896284, PMID:28087566, PMID:28492532, PMID:28663758, PMID:28701371, PMID:28807990, PMID:30311386 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Msx1 msh homeobox 1 ISO ClinVar Annotator: match by term: Craniosynostosis ClinVar PMID:25741868, PMID:31837199 NCBI chr14:77,712,262...77,716,061
Ensembl chr14:77,712,240...77,716,059
JBrowse link
G Msx2 msh homeobox 2 ISO
ISS
craniosynostosis type 2, OMIM:604757, DNA:point mutation:exon:P148H
OMIM:123100 | OMIM:182212 | OMIM:600593 | OMIM:600775 | OMIM:604757 | OMIM:615314 | OMIM:615529
ClinVar Annotator: match by term: Craniosynostosis
MouseDO
ClinVar
PMID:8968743 RGD:1600491 NCBI chr17:11,683,862...11,689,527
Ensembl chr17:11,683,862...11,689,527
JBrowse link
G Nell1 neural EGFL like 1 IMP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:14672347, PMID:12235118 RGD:633405 NCBI chr 1:105,348,577...106,218,970
Ensembl chr 1:105,349,069...106,218,958
JBrowse link
G Nog noggin treatment ISO RGD PMID:19627528 RGD:8547554 NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Craniosynostosis ClinVar NCBI chr 5:59,128,186...59,147,321
Ensembl chr 5:59,128,315...59,147,255
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Craniosynostosis ClinVar PMID:25741868, PMID:28492532, PMID:31837199 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Brachycephaly ClinVar PMID:1258892, PMID:1543375, PMID:4025385, PMID:4386970, PMID:8530013, PMID:9222968, PMID:11704759, PMID:11992261, PMID:12960218, PMID:14644997, PMID:15987685, PMID:16358218, PMID:16523510, PMID:17020470, PMID:17056636, PMID:17222357, PMID:17339163, PMID:17361219, PMID:18372317, PMID:19020799, PMID:19206169, PMID:19467855, PMID:19737548, PMID:20308328, PMID:21396583, PMID:21500339, PMID:21533187, PMID:22315187, PMID:23584145, PMID:24033266, PMID:24628801, PMID:25741868, PMID:26249544, PMID:26297936, PMID:27521173, PMID:27619028, PMID:28492532, PMID:30311386, PMID:32581362 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Craniosynostosis ClinVar PMID:11791205, PMID:12651869, PMID:12730725, PMID:12796535, PMID:12807980, PMID:12929188, PMID:14504330, PMID:14659409, PMID:14729848, PMID:15036330, PMID:15286164, PMID:15328566, PMID:15482960, PMID:16931511, PMID:16945936, PMID:17190963, PMID:19620612, PMID:20157724, PMID:20562457, PMID:20930056, PMID:21228398, PMID:21305573, PMID:24033266, PMID:24319099, PMID:25194721, PMID:25264167, PMID:25741868, PMID:26467025, PMID:26782015, PMID:26910802, PMID:26927095, PMID:28492532, PMID:29053879, PMID:29054425, PMID:29189923, PMID:30124556, PMID:30266223, PMID:30311386 NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Premature closure of cranial sutures ClinVar PMID:4149045, PMID:8661021, PMID:9199552, PMID:16163667, PMID:16380615, PMID:16621918, PMID:16732084, PMID:16917943, PMID:18765655, PMID:19685112, PMID:20142353, PMID:20583297, PMID:20839240, PMID:21157159, PMID:23394784, PMID:23553484, PMID:23919265, PMID:25741868, PMID:25747005, PMID:26381711, PMID:28492532, PMID:30311386 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Ski SKI proto-oncogene ISS OMIM:123100 | OMIM:182212 | OMIM:600593 | OMIM:600775 | OMIM:604757 | OMIM:615314 | OMIM:615529 MouseDO NCBI chr 5:172,556,196...172,623,878
Ensembl chr 5:172,559,135...172,623,899
JBrowse link
G Smad6 SMAD family member 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:68,897,746...68,967,221
Ensembl chr 8:68,898,296...68,966,108
JBrowse link
G Smarcc2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 ISO ClinVar Annotator: match by term: Metopic synostosis ClinVar PMID:30311386 NCBI chr 7:2,875,898...2,905,463
Ensembl chr 7:2,875,909...2,904,453
JBrowse link
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO ClinVar Annotator: match by term: Craniosynostosis ClinVar PMID:25741868, PMID:31837199 NCBI chr20:14,287,470...14,393,879
Ensembl chr20:14,287,457...14,393,793
JBrowse link
G Tcf12 transcription factor 12 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniosynostosis
CTD
ClinVar
PMID:23354436, PMID:25741868, PMID:31837199 NCBI chr 8:78,343,634...78,657,738
Ensembl chr 8:78,345,754...78,655,856
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Craniosynostosis ClinVar PMID:25741868, PMID:31837199 NCBI chr 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Craniosynostosis 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:123100
OMIM
ClinVar
CTD
PMID:1240778, PMID:8988166, PMID:8988167, PMID:9585583, PMID:9792856, PMID:10094188, PMID:10649491, PMID:10749989, PMID:11248247, PMID:11748846, PMID:11992718, PMID:12116251, PMID:12221714, PMID:12791045, PMID:14513358, PMID:15923834, PMID:16251895, PMID:16838304, PMID:17343269, PMID:17693524, PMID:18391498, PMID:19373776, PMID:19483581, PMID:19755431, PMID:20643727, PMID:21520333, PMID:22382802, PMID:22982246, PMID:24127277, PMID:25271085, PMID:25741868, PMID:26114524, PMID:28492532, PMID:30651579 NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214
JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Craniosynostosis ClinVar PMID:25741868, PMID:28492532, PMID:31837199 NCBI chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120
JBrowse link
G Wdr35 WD repeat domain 35 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20817137 NCBI chr 6:34,094,291...34,152,048
Ensembl chr 6:34,094,306...34,151,622
JBrowse link
G Zfp462 zinc finger protein 462 ISO ClinVar Annotator: match by term: Craniosynostosis
ClinVar Annotator: match by term: Premature closure of cranial sutures
ClinVar PMID:28513610 NCBI chr 5:71,679,841...71,824,077
Ensembl chr 5:71,742,911...71,823,139
JBrowse link
G Zic1 Zic family member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:98,733,715...98,738,960
Ensembl chr 8:98,734,295...98,738,446
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, PMID:18786927, PMID:23918290, PMID:23949913, PMID:25741868, PMID:27013732, PMID:28492532, PMID:28808027 NCBI chr17:11,683,862...11,689,527
Ensembl chr17:11,683,862...11,689,527
JBrowse link
Craniosynostosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcf12 transcription factor 12 ISO ClinVar Annotator: match by term: Craniosynostosis 3
ClinVar Annotator: match by OMIM:615314
OMIM
ClinVar
PMID:23354436, PMID:24736737, PMID:25741868 NCBI chr 8:78,343,634...78,657,738
Ensembl chr 8:78,345,754...78,655,856
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Coronal craniosynostosis ClinVar NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214
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, PMID:28808027, PMID:30758909 NCBI chr 1:82,112,449...82,120,902
Ensembl chr 1:82,112,449...82,120,902
JBrowse link
Craniosynostosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 ALX homeobox 4 susceptibility ISO ClinVar Annotator: match by term: Craniosynostosis 5, susceptibility to ClinVar
OMIM
PMID:22829454 NCBI chr 3:82,548,959...82,585,531
Ensembl chr 3:82,548,959...82,585,531
JBrowse link
Craniosynostosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zic1 Zic family member 1 ISO ClinVar Annotator: match by term: Craniosynostosis 6 OMIM
ClinVar
PMID:26340333 NCBI chr 8:98,733,715...98,738,960
Ensembl chr 8:98,734,295...98,738,446
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 NCBI chr 3:126,335,963...126,346,771
Ensembl chr 3:126,335,863...126,346,318
JBrowse link
G Smad6 SMAD family member 6 susceptibility ISO ClinVar Annotator: match by term: Craniosynostosis 7
ClinVar Annotator: match by term: CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO
OMIM
ClinVar
PMID:25741868, PMID:27606499, PMID:28492532 NCBI chr 8:68,897,746...68,967,221
Ensembl chr 8:68,898,296...68,966,108
JBrowse link
Craniosynostosis and Dental Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Craniosynostosis and dental anomalies
ClinVar Annotator: match by OMIM:614188
OMIM
ClinVar
PMID:21741611, PMID:25741868 NCBI chr 5:58,149,150...58,159,072
Ensembl chr 5:58,151,985...58,159,072
JBrowse link
Craniosynostosis Syndrome, Autosomal Recessive 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: Craniosynostosis syndrome ClinVar PMID:15523615, PMID:17803937 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
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 ClinVar Annotator: match by term: Crouzon syndrome
ClinVar Annotator: match by term: Crouzon disease
ClinVar Annotator: match by term: Craniofacial dysostosis type 1
DNA:missense mutations:cds:p.Y281C, p.G289P (human)
DNA:missense mutations, silent mutation:cds:multiple (human)
DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by OMIM:123500
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1519658, PMID:1697263, PMID:2172978, PMID:4078868, PMID:7558045, PMID:7573032, PMID:7581378, PMID:7607643, PMID:7655462, PMID:7668257, PMID:7719329, PMID:7719344, PMID:7719345, PMID:7773284, PMID:7874170, PMID:7987400, PMID:7989400, PMID:8434615, PMID:8522336, PMID:8528214, PMID:8644708, PMID:8650126, PMID:8651276, PMID:8755573, PMID:8957519, PMID:9002682, PMID:9048930, PMID:9152842, PMID:9169049, PMID:9385368, PMID:9462761, PMID:9521581, PMID:9539778, PMID:9585583, PMID:9586546, PMID:9677057, PMID:9700203, PMID:9719378, PMID:10067911, PMID:10394936, PMID:10541159, PMID:10633130, PMID:10712195, PMID:10735635, PMID:10851026, PMID:10874645, PMID:10951518, PMID:11121055, PMID:11173845, PMID:11325814, PMID:11343323, PMID:11390973, PMID:11781872, PMID:12124745, PMID:12884424, PMID:12884434, PMID:14499350, PMID:15282208, PMID:15286168, PMID:15316116, PMID:15389579, PMID:15793702, PMID:15883293, PMID:15975938, PMID:16061565, PMID:16158432, PMID:16418739, PMID:16440883, PMID:16501574, PMID:16740155, PMID:16838304, PMID:16969861, PMID:17251833, PMID:17264867, PMID:17525745, PMID:17693524, PMID:18552176, PMID:18726952, PMID:19066959, PMID:19610084, PMID:20133659, PMID:20301628, PMID:20489451, PMID:20503384, PMID:20643727, PMID:21367659, PMID:22238366, PMID:22387015, PMID:22558232, PMID:22664175, PMID:23002168, PMID:23348274, PMID:23431754, PMID:23495007, PMID:23546041, PMID:23754559, PMID:23786770, PMID:23908597, PMID:24127277, PMID:24489893, PMID:24656465, PMID:24728327, PMID:25157968, PMID:25209230, PMID:25245177, PMID:25271085, PMID:25343114, PMID:25361936, PMID:25425289, PMID:25741868, PMID:25759925, PMID:25759927, PMID:25867380, PMID:26362256, PMID:26380986, PMID:26429889, PMID:26467025, PMID:26619011, PMID:27028366, PMID:27228464, PMID:27481450, PMID:27683237, PMID:28492532, PMID:28901406, PMID:30311386, PMID:31145570, PMID:11380921, PMID:7874170, PMID:11711827 RGD:12801472, RGD:12801470, RGD:12801466 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Crouzon syndrome ClinVar PMID:1956068, PMID:4078868, PMID:7670477, PMID:7847369, PMID:8723106, PMID:8841188, PMID:8845844, PMID:9042914, PMID:9107244, PMID:9279753, PMID:9279764, PMID:9450868, PMID:9525367, PMID:9580776, PMID:9585583, PMID:9600744, PMID:9677066, PMID:9843059, PMID:9950359, PMID:10053006, PMID:10094188, PMID:10213050, PMID:10602123, PMID:10777366, PMID:10861678, PMID:11424131, PMID:11746040, PMID:12707965, PMID:14613973, PMID:15241680, PMID:15915095, PMID:16501574, PMID:17033969, PMID:17935505, PMID:17950653, PMID:18000976, PMID:18328977, PMID:18344207, PMID:19098178, PMID:19215249, PMID:19449410, PMID:22045636, PMID:22604720, PMID:23165795, PMID:23378035, PMID:23740942, PMID:24728327, PMID:24864036, PMID:25356217, PMID:25741868, PMID:25931420, PMID:26028288, PMID:26740388, PMID:28492532, PMID:32238909 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 ISO ClinVar Annotator: match by term: Craniofacial dysostosis ClinVar PMID:25741868 NCBI chr18:56,081,863...56,115,719
Ensembl chr18:56,082,195...56,115,593
JBrowse link
Crouzon syndrome-acanthosis nigricans syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: CROUZONODERMOSKELETAL SYNDROME
ClinVar Annotator: match by term: Crouzon syndrome with acanthosis nigricans
ClinVar Annotator: match by OMIM:612247
DNA:missense mutation:p.A391E(human)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1908846, PMID:1956068, PMID:4078868, PMID:7493034, PMID:7670477, PMID:7773297, PMID:7847369, PMID:8589699, PMID:8845844, PMID:8858131, PMID:8880573, PMID:9450868, PMID:9580776, PMID:9677066, PMID:9857065, PMID:9950359, PMID:10053006, PMID:10073901, PMID:10213050, PMID:10471491, PMID:10602123, PMID:10696568, PMID:10777366, PMID:11038465, PMID:11055896, PMID:11241532, PMID:11426459, PMID:11529856, PMID:11879084, PMID:12707965, PMID:12833394, PMID:15241680, PMID:15772091, PMID:16501574, PMID:16841094, PMID:17033969, PMID:17384684, PMID:17875876, PMID:17935505, PMID:17950653, PMID:18000976, PMID:18328977, PMID:18344207, PMID:18583390, PMID:18642369, PMID:18976668, PMID:19098178, PMID:19165726, PMID:19381019, PMID:19449410, PMID:19749790, PMID:20199409, PMID:21536014, PMID:22045636, PMID:22604720, PMID:23165795, PMID:23378035, PMID:23437153, PMID:23740942, PMID:24864036, PMID:25157968, PMID:25326635, PMID:25356217, PMID:25606676, PMID:25741868, PMID:25809207, PMID:25931420, PMID:26028288, PMID:26619011, PMID:26740388, PMID:26818779, PMID:28492532, PMID:30311386, PMID:7493034 RGD:11568032 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
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 LOC100361854 ribosomal protein S26-like ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:17483715, PMID:19816270, PMID:23718193, PMID:24942156, PMID:28492532 NCBI chr  X:115,495,660...115,496,062
Ensembl chr  X:115,495,698...115,496,045
JBrowse link
G Rps28 ribosomal protein S28 ISO ClinVar Annotator: match by OMIM:606164 OMIM
ClinVar
PMID:24942156 NCBI chr 7:18,682,071...18,683,440
Ensembl chr 7:18,682,071...18,683,440
JBrowse link
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:11424144, PMID:24942156 NCBI chr  X:20,141,406...20,146,082
Ensembl chr  X:20,144,432...20,232,639
JBrowse link
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS OMIM
ClinVar
PMID:11424144, PMID:24942156 NCBI chr  X:20,141,406...20,146,082
Ensembl chr  X:20,144,432...20,232,639
JBrowse link
Diaphanospondylodysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmper BMP-binding endothelial regulator ISO ClinVar Annotator: match by term: Diaphanospondylodysostosis
ClinVar Annotator: match by OMIM:608022
OMIM
ClinVar
PMID:20869035, PMID:21990102, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30006055 NCBI chr 8:24,369,916...24,615,484
Ensembl chr 8:24,369,916...24,615,479
JBrowse link
Digital Arthropathy-Brachydactyly, Familial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Digital arthropathy-brachydactyly, familial
ClinVar Annotator: match by OMIM:606835
OMIM
ClinVar
PMID:956253, PMID:1520078, PMID:4056805, PMID:8179305, PMID:11891693, PMID:14755468, PMID:18587396, PMID:19232556, PMID:20037586, PMID:20037587, PMID:20037588, PMID:20104247, PMID:20425821, PMID:20460441, PMID:20503319, PMID:20577006, PMID:21115951, PMID:21288981, PMID:21336783, PMID:21454511, PMID:21964574, PMID:22702953, PMID:22791502, PMID:22851605, PMID:24575025, PMID:24677493, PMID:24789864, PMID:25256292, PMID:25741868, PMID:25900305, PMID:26110311, PMID:26249260, PMID:26467025, PMID:27330106, PMID:28492532, PMID:28898540 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
JBrowse link
distal arthrogryposis type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO OMIM NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
Ectodermal Dysplasia-Syndactyly Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nectin4 nectin cell adhesion molecule 4 ISO ClinVar Annotator: match by term: Ectodermal dysplasia-syndactyly syndrome 1
ClinVar Annotator: match by OMIM:613573
OMIM
ClinVar
PMID:20691405, PMID:21346770, PMID:24577405, PMID:25529316, PMID:28492532 NCBI chr13:89,755,665...89,774,185
Ensembl chr13:89,755,845...89,774,378
JBrowse link
Facial Ectodermal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31570889 NCBI chr 8:117,082,440...117,116,244
Ensembl chr 8:117,106,576...117,116,167
JBrowse link
G Twist2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by OMIM:227260 OMIM
ClinVar
PMID:8818454, PMID:14069095, PMID:20691403, PMID:21931173 NCBI chr 9:98,924,134...98,968,510
Ensembl chr 9:98,924,134...98,968,510
JBrowse link
fibular hypoplasia and complex brachydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Fibular hypoplasia and complex brachydactyly
DNA:missense mutation:cds:T1322C (p.L441P)(human)
ClinVar Annotator: match by OMIM:228900
OMIM
ClinVar
PMID:12121354, PMID:16014698, PMID:16127465, PMID:16222676, PMID:17384641, PMID:18629880, PMID:25741868, PMID:28492532, PMID:12121354 RGD:12437084 NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
JBrowse link
Filippi Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ckap2l cytoskeleton associated protein 2-like ISO ClinVar Annotator: match by term: Filippi syndrome ClinVar
OMIM
PMID:8867657, PMID:15365457, PMID:18553552, PMID:25439729 NCBI chr 3:121,796,221...121,822,352
Ensembl chr 3:121,796,238...121,822,436
JBrowse link
focal dermal hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Porcn porcupine O-acyltransferase ISO ClinVar Annotator: match by term: Focal dermal hypoplasia
ClinVar Annotator: match by OMIM:305600
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:17546030, PMID:17546031, PMID:18325042, PMID:19309688, PMID:19586929, PMID:19863546, PMID:25741868 NCBI chr  X:15,035,569...15,048,440
Ensembl chr  X:15,035,569...15,048,440
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Gorlin-Goltz Syndrome ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
Focal Facial Dermal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp26c1 cytochrome P450, family 26, subfamily C, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:256,369,410...256,380,649
Ensembl chr 1:256,370,850...256,378,335
JBrowse link
Focal Facial Dermal Dysplasia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp26c1 cytochrome P450, family 26, subfamily C, polypeptide 1 ISO ClinVar Annotator: match by OMIM:614974 OMIM
ClinVar
PMID:16530710, PMID:23161670 NCBI chr 1:256,369,410...256,380,649
Ensembl chr 1:256,370,850...256,378,335
JBrowse link
Fraser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fras1 Fraser extracellular matrix complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17163535 NCBI chr14:14,438,392...14,853,016
Ensembl chr14:14,439,082...14,689,554
JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISS OMIM:219000 MouseDO NCBI chr 5:101,018,009...101,166,794
Ensembl chr 5:101,020,448...101,166,651
JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17163535 NCBI chr 2:142,747,501...142,885,604
Ensembl chr 2:142,747,501...142,885,604
JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISS OMIM:219000 MouseDO NCBI chr 7:64,672,723...64,854,939
Ensembl chr 7:64,672,722...64,864,404
JBrowse link
Fraser syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fras1 Fraser extracellular matrix complex subunit 1 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Fraser syndrome 1
ClinVar Annotator: match by term: Cryptophthalmos syndrome
ClinVar Annotator: match by term: FRASER SYNDROME 1
ClinVar Annotator: match by term: CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME
ClinVar Annotator: match by OMIM:219000
ClinVar
OMIM
PMID:12766769, PMID:16783378, PMID:16894541, PMID:17163535, PMID:18671281, PMID:20301718, PMID:21900877, PMID:22029163, PMID:23532946, PMID:24476948, PMID:24551978, PMID:24583203, PMID:24700879, PMID:25353622, PMID:25741868, PMID:26893459, PMID:27280866, PMID:28492532, PMID:31319225, PMID:12766769 RGD:1598960 NCBI chr14:14,438,392...14,853,016
Ensembl chr14:14,439,082...14,689,554
JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by OMIM:219000
ClinVar Annotator: match by term: Fraser syndrome 1
ClinVar Annotator: match by term: CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME
ClinVar PMID:25741868, PMID:26275891, PMID:28492532 NCBI chr 2:142,747,501...142,885,604
Ensembl chr 2:142,747,501...142,885,604
JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO ClinVar Annotator: match by OMIM:219000
ClinVar Annotator: match by term: Cryptophthalmos syndrome
ClinVar Annotator: match by term: CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME
ClinVar PMID:25741868, PMID:28492532 NCBI chr 7:64,672,723...64,854,939
Ensembl chr 7:64,672,722...64,864,404
JBrowse link
Fraser syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frem2 FRAS1 related extracellular matrix 2 IAGP
ISO
ClinVar Annotator: match by term: FRASER SYNDROME 2 ClinVar
OMIM
PMID:15838507, PMID:18203166, PMID:18671281, PMID:24115501, PMID:25741868, PMID:26275891, PMID:28492532, PMID:29688405, PMID:30311386, PMID:30802441, PMID:21756877 RGD:13464328 NCBI chr 2:142,747,501...142,885,604
Ensembl chr 2:142,747,501...142,885,604
JBrowse link
G Frem2fpl Fras1 related extracellular matrix protein 2;fpl mutant IAGP RGD PMID:21756877 RGD:13464328
Fraser syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts14 ADAM metallopeptidase with thrombospondin type 1 motif, 14 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr20:30,812,319...30,888,936
Ensembl chr20:30,812,353...30,888,751
JBrowse link
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr10:58,599,690...58,631,194
Ensembl chr10:58,599,856...58,608,907
JBrowse link
G Aspa aspartoacylase ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr10:59,839,693...59,888,244
Ensembl chr10:59,839,852...59,892,960
JBrowse link
G Bclaf1 BCL2-associated transcription factor 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 1:15,799,753...15,828,838
Ensembl chr 1:15,782,477...15,860,624
JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr10:55,642,070...55,643,924
Ensembl chr10:55,642,070...55,643,923
JBrowse link
G Gnb5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 8:82,248,951...82,286,493
Ensembl chr 8:82,257,849...82,285,184
JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar
OMIM
PMID:21383172, PMID:22510445, PMID:24033266, PMID:25741868, PMID:26539891, PMID:28492532 NCBI chr 7:64,672,723...64,854,939
Ensembl chr 7:64,672,722...64,864,404
JBrowse link
G Lsm10 LSM10, U7 small nuclear RNA associated ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 5:144,106,339...144,108,703
Ensembl chr 5:144,106,802...144,108,708
JBrowse link
G Med23 mediator complex subunit 23 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 1:21,539,765...21,587,675
Ensembl chr 1:21,539,765...21,586,910
JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 1:53,026,608...53,038,229
Ensembl chr 1:53,026,608...53,038,229
JBrowse link
G Myo18b myosin XVIIIb ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr12:49,761,100...49,979,745
Ensembl chr12:49,761,120...49,979,758
JBrowse link
G Odad1 outer dynein arm docking complex subunit 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar PMID:25741868, PMID:28492532 NCBI chr 1:101,904,042...101,932,999
Ensembl chr 1:101,906,903...101,932,998
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar PMID:28492532 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Tlcd3a TLC domain containing 3A ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr10:64,360,374...64,367,679
Ensembl chr10:64,360,390...64,366,586
JBrowse link
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr10:62,273,817...62,287,213
Ensembl chr10:62,273,800...62,287,189
JBrowse link
Freeman-Sheldon syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by OMIM:193700
ClinVar Annotator: match by term: Freeman-Sheldon syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16642020, PMID:18414213, PMID:18695058, PMID:19142688, PMID:25741868, PMID:28492532, PMID:29805041, PMID:30311386, PMID:30379605, PMID:30826400 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
Frontonasal Dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx3 ALX homeobox 3 ISO ClinVar Annotator: match by term: Frontonasal dysplasia 1
ClinVar Annotator: match by OMIM:136760
OMIM
ClinVar
PMID:17963218, PMID:19409524, PMID:25741868 NCBI chr 2:210,376,510...210,386,928
Ensembl chr 2:210,381,829...210,386,928
JBrowse link
Frontonasal Dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 ALX homeobox 4 ISO ClinVar Annotator: match by term: Frontonasal dysplasia 2
ClinVar Annotator: match by OMIM:613451
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:11017806, PMID:11106354, PMID:11137991, PMID:16319823, PMID:19692347, PMID:22140057, PMID:22829454, PMID:24668755, PMID:25741868 NCBI chr 3:82,548,959...82,585,531
Ensembl chr 3:82,548,959...82,585,531
JBrowse link
Gillessen-Kaesbach-Nishimura Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Gillessen-kaesbach-nishimura syndrome ClinVar
OMIM
PMID:25741868, PMID:25966638 NCBI chr 8:55,202,140...55,265,478
Ensembl chr 8:55,202,725...55,265,478
JBrowse link
Goldenhar syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zic3 Zic family member 3 ISS OMIM:164210 MouseDO NCBI chr  X:140,875,191...140,888,344
Ensembl chr  X:140,878,216...140,888,795
JBrowse link
Greig cephalopolysyndactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome, severe
DNA:mutations:exon, intron:multiple
DNA:nonsense mutations, missense mutations, splice-site mutations:exon, intron:multiple
DNA:mutations: :multiple
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:175700
OMIM
ClinVar
CTD
PMID:1879832, PMID:6641002, PMID:9302279, PMID:10441342, PMID:10441570, PMID:10678662, PMID:12414818, PMID:12794692, PMID:14608643, PMID:15739154, PMID:15811011, PMID:16740916, PMID:18000979, PMID:18154020, PMID:18241058, PMID:18435847, PMID:19829694, PMID:20583172, PMID:20672375, PMID:24736735, PMID:25606469, PMID:25741868, PMID:26508445, PMID:27231705, PMID:28492532, PMID:15739154, PMID:10441342, PMID:24736735, PMID:22903559 RGD:12738222, RGD:12738208, RGD:12738205, RGD:12738141 NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
JBrowse link
Humerofemoral Hypoplasia with Radiotibial Ray Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rspo2 R-spondin 2 ISO ClinVar Annotator: match by term: HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY ClinVar
OMIM
PMID:29769720 NCBI chr 7:81,919,911...82,059,659
Ensembl chr 7:81,924,050...82,059,789
JBrowse link
hypertension and brachydactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde3a phosphodiesterase 3A ISO ClinVar Annotator: match by term: Bilginturan syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:112410
OMIM
ClinVar
CTD
PMID:4774535, PMID:25961942 NCBI chr 4:175,431,904...175,703,844
Ensembl chr 4:175,431,904...175,700,238
JBrowse link
ischiocoxopodopatellar syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx4 T-box transcription factor 4 ISO ClinVar Annotator: match by term: Coxopodopatellar syndrome
ClinVar Annotator: match by term: Ischiopatellar dysplasia
ClinVar Annotator: match by OMIM:147891
OMIM
ClinVar
PMID:11303519, PMID:15106123, PMID:23592887, PMID:24033266, PMID:25741868, PMID:28492532, PMID:31151956, PMID:31761294, PMID:31965066, PMID:32581362, PMID:32860008 NCBI chr10:73,331,864...73,362,784
Ensembl chr10:73,333,119...73,362,783
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: Jackson-Weiss syndrome OMIM
ClinVar
PMID:7795583, PMID:7874169, PMID:10861678, PMID:10942429, PMID:14564217, PMID:14613973, PMID:16957473, PMID:24127277, PMID:24497711, PMID:25251565, PMID:28492532 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Jackson-Weiss syndrome
ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities
DNA:missense mutation:cds:p.R344G (human)
ClinVar Annotator: match by OMIM:123150
OMIM
ClinVar
PMID:7558045, PMID:7581378, PMID:7655462, PMID:7668257, PMID:7719329, PMID:7719344, PMID:7719345, PMID:7773284, PMID:7874170, PMID:7987400, PMID:8528214, PMID:8644708, PMID:8651276, PMID:8957519, PMID:9385368, PMID:9462761, PMID:9586546, PMID:9677057, PMID:9700203, PMID:9719378, PMID:10541159, PMID:10633130, PMID:10851026, PMID:11121055, PMID:11390973, PMID:12124745, PMID:12884424, PMID:12884434, PMID:14499350, PMID:15389579, PMID:15975938, PMID:16158432, PMID:16418739, PMID:16440883, PMID:16838304, PMID:16969861, PMID:17251833, PMID:17525745, PMID:18552176, PMID:19066959, PMID:20301628, PMID:20489451, PMID:21367659, PMID:22238366, PMID:22664175, PMID:23002168, PMID:23495007, PMID:23546041, PMID:23786770, PMID:24127277, PMID:24489893, PMID:24656465, PMID:25157968, PMID:25271085, PMID:25741868, PMID:25759925, PMID:25867380, PMID:26362256, PMID:26380986, PMID:26619011, PMID:27481450, PMID:28492532, PMID:30311386, PMID:31145570, PMID:7874170 RGD:12801470 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
Jarcho-Levin Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by OMIM:277300
ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive
ClinVar Annotator: match by term: Jarcho-Levin syndrome
ClinVar
OMIM
PMID:2805381, PMID:10742114, PMID:12791036, PMID:15200511, PMID:15717203, PMID:18485326, PMID:25741868, PMID:28492532 NCBI chr 1:85,485,875...85,493,683
Ensembl chr 1:85,485,289...85,493,685
JBrowse link
G Mesp2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Spondylothoracic Dysostosis
ClinVar Annotator: match by term: Jarcho-Levin syndrome
ClinVar PMID:25741868 NCBI chr 1:141,550,633...141,553,239
Ensembl chr 1:141,550,633...141,553,230
JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive ClinVar PMID:25741868 NCBI chr 1:85,386,492...85,399,699
Ensembl chr 1:85,386,470...85,399,699
JBrowse link
Joubert syndrome with orofaciodigital defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome 6
ClinVar Annotator: match by term: Orofaciodigital syndrome VI
ClinVar
OMIM
PMID:18414213, PMID:22425360, PMID:23523602, PMID:24091540, PMID:24178751, PMID:25407461, PMID:25741868, PMID:25846457, PMID:25920555, PMID:26092869, PMID:27081551, PMID:27434533, PMID:28125082, PMID:28289185, PMID:28431631, PMID:28454995, PMID:28492532, PMID:29321670, PMID:29605658, PMID:30311386 NCBI chr 2:57,274,175...57,350,003
NCBI chr 2:57,444,373...57,472,465
Ensembl chr 2:57,276,919...57,348,481
JBrowse link
Juberg Hayward Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:10982489, PMID:12410386, PMID:12612583, PMID:15194946, PMID:15917206, PMID:16299064, PMID:16417552, PMID:16822260, PMID:17264970, PMID:17431908, PMID:17632775, PMID:18414213, PMID:18805826, PMID:19773341, PMID:20598277, PMID:20844545, PMID:21520333, PMID:21836662, PMID:22522697, PMID:25167861, PMID:25649377, PMID:25741868, PMID:26404489, PMID:26467025, PMID:27193221, PMID:28133863, PMID:28454995, PMID:28492532, PMID:30311386, PMID:31064749 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
Klippel-Feil syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf6 growth differentiation factor 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Klippel Feil syndrome
CTD
ClinVar
PMID:18425797, PMID:19129173, PMID:23307924, PMID:24033266, PMID:25741868, PMID:32737436 NCBI chr 5:23,056,345...23,072,666
Ensembl chr 5:23,056,347...23,074,599
JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: CERVICAL VERTEBRAL FUSION, AUTOSOMAL DOMINANT ClinVar PMID:18412265, PMID:18688798, PMID:18716801, PMID:18781329, PMID:19699188, PMID:20301387, PMID:20642453, PMID:21885347, PMID:25243190, PMID:26930193, PMID:28492532 NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
JBrowse link
G Meox1 mesenchyme homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:89,797,011...89,817,009
Ensembl chr10:89,797,038...89,816,491
JBrowse link
G Myo18b myosin XVIIIb ISO ClinVar Annotator: match by term: Klippel Feil syndrome ClinVar PMID:25741868 NCBI chr12:49,761,100...49,979,745
Ensembl chr12:49,761,120...49,979,758
JBrowse link
Klippel-Feil syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf6 growth differentiation factor 6 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant
ClinVar Annotator: match by OMIM:118100
OMIM
ClinVar
PMID:18425797, PMID:19129173, PMID:20057906, PMID:20494911, PMID:21070663, PMID:22204637, PMID:23307924, PMID:24033266, PMID:25741868, PMID:25741869, PMID:28492532, PMID:32737436 NCBI chr 5:23,056,345...23,072,666
Ensembl chr 5:23,056,347...23,074,599
JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant ClinVar PMID:18412265, PMID:18688798, PMID:18716801, PMID:18781329, PMID:19699188, PMID:20301387, PMID:20642453, PMID:21885347, PMID:25243190, PMID:26930193, PMID:28492532 NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
JBrowse link
Klippel-Feil syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Meox1 mesenchyme homeobox 1 ISO ClinVar Annotator: match by OMIM:214300 OMIM
ClinVar
PMID:23290072, PMID:24073994 NCBI chr10:89,797,011...89,817,009
Ensembl chr10:89,797,038...89,816,491
JBrowse link
G Ripply2 ripply transcriptional repressor 2 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 2, autosomal recessive ClinVar PMID:25343988, PMID:26238661, PMID:26637979 NCBI chr 8:94,676,579...94,691,125
Ensembl chr 8:94,686,938...94,691,041
JBrowse link
Klippel-Feil syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant OMIM
ClinVar
PMID:19864492, PMID:25741868, PMID:28492532, PMID:29735971 NCBI chr 4:155,417,667...155,422,014
Ensembl chr 4:155,417,004...155,421,998
JBrowse link
Klippel-Feil syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo18b myosin XVIIIb ISO ClinVar Annotator: match by term: Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism ClinVar
OMIM
PMID:25741868, PMID:25748484, PMID:26752647, PMID:27858739, PMID:28492532 NCBI chr12:49,761,100...49,979,745
Ensembl chr12:49,761,120...49,979,758
JBrowse link
LADD syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf10 fibroblast growth factor 10 ISO ClinVar Annotator: match by term: Levy-Hollister syndrome
ClinVar Annotator: match by OMIM:149730
OMIM
ClinVar
PMID:15654336, PMID:16501574, PMID:16630169, PMID:17213838, PMID:25741868 NCBI chr 2:51,673,480...51,747,533
Ensembl chr 2:51,672,722...51,750,369
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: LADD syndrome
ClinVar Annotator: match by term: Levy-Hollister syndrome
ClinVar Annotator: match by OMIM:149730
OMIM
ClinVar
PMID:7558045, PMID:7668257, PMID:7719344, PMID:7773284, PMID:7874170, PMID:7987400, PMID:8651276, PMID:8957519, PMID:9462761, PMID:9677057, PMID:9700203, PMID:9719378, PMID:10851026, PMID:11121055, PMID:11390973, PMID:12124745, PMID:14499350, PMID:15389579, PMID:15975938, PMID:16158432, PMID:16440883, PMID:16501574, PMID:16838304, PMID:16969861, PMID:17251833, PMID:17525745, PMID:18056630, PMID:18414213, PMID:18552176, PMID:20301628, PMID:20489451, PMID:21367659, PMID:22238366, PMID:22664175, PMID:23002168, PMID:23495007, PMID:23546041, PMID:23786770, PMID:24127277, PMID:24489893, PMID:24656465, PMID:25157968, PMID:25271085, PMID:25741868, PMID:25867380, PMID:26380986, PMID:26619011, PMID:28492532, PMID:30311386, PMID:31145570 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: LADD syndrome
ClinVar Annotator: match by term: Levy-Hollister syndrome
ClinVar Annotator: match by OMIM:149730
OMIM
ClinVar
PMID:1908846, PMID:7773297, PMID:8589699, PMID:8858131, PMID:9677066, PMID:10073901, PMID:10471491, PMID:10696568, PMID:11038465, PMID:11055896, PMID:11241532, PMID:11529856, PMID:11879084, PMID:12833394, PMID:15772091, PMID:16501574, PMID:16841094, PMID:17384684, PMID:17875876, PMID:18583390, PMID:18642369, PMID:19381019, PMID:19749790, PMID:25157968, PMID:25606676, PMID:25741868, PMID:25809207, PMID:26619011, PMID:26818779, PMID:28483234, PMID:28492532, PMID:30311386 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
Laurin-Sandrow syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb development membrane protein 1 ISO ClinVar Annotator: match by OMIM:135750 OMIM
ClinVar
PMID:16059937, PMID:24456159 NCBI chr 4:2,116,094...2,274,111
Ensembl chr 4:2,116,094...2,201,749
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 chain ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:2049575, PMID:21086191, PMID:24033266, PMID:25637381, PMID:25741868, PMID:25758994, PMID:25846194, PMID:27011056, PMID:27964749, PMID:28492532, PMID:28748566, PMID:30374176 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:28492532 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
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, PMID:16596670, PMID:17324963, PMID:21784848, PMID:24199744, PMID:26796135, PMID:27914124, PMID:28492532 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:7923625, PMID:10199307, PMID:10854329, PMID:14722581, PMID:16444274, PMID:17666408, PMID:17956658, PMID:20734336, PMID:22511748, PMID:22968129, PMID:24033266, PMID:24337657, PMID:24676022, PMID:25407000, PMID:25424711, PMID:25433566, PMID:25741868, PMID:26017485, PMID:26792327, PMID:27418595, PMID:27879251, PMID:28492532, PMID:29494672, PMID:29961567 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Loeys-Dietz syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22772368, PMID:24033266, PMID:24711937, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22772368, PMID:23102774, PMID:24465802, PMID:25644172, PMID:25741868, PMID:26017485, PMID:26854089, PMID:28492532, PMID:28633253, PMID:28655553, PMID:29392890, PMID:29510914, PMID:30311386 NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030
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
CTD
ClinVar
PMID:7737999, PMID:23824657, PMID:23861362, PMID:24238504, PMID:24798638, PMID:25136781, PMID:25447171, PMID:25637381, PMID:25741868, PMID:25835445, PMID:26184463, PMID:26188975, PMID:27848944, PMID:28166282, PMID:28240702, PMID:28492532, PMID:29247119, PMID:29392890, PMID:29907982 NCBI chr 6:109,913,757...109,936,217
Ensembl chr 6:109,913,757...109,935,533
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:2647812, PMID:15731757, PMID:16596670, PMID:16791849, PMID:16799921, PMID:16928994, PMID:17652900, PMID:18455604, PMID:18781618, PMID:19159394, PMID:19542084, PMID:19561605, PMID:19839986, PMID:20332227, PMID:20358619, PMID:21267002, PMID:21358634, PMID:22113417, PMID:22414221, PMID:22772368, PMID:23884466, PMID:24033266, PMID:24793577, PMID:25110237, PMID:25116393, PMID:25326635, PMID:25521989, PMID:25715477, PMID:25741868, PMID:25834947, PMID:25907466, PMID:25944730, PMID:25985138, PMID:26848186, PMID:26877057, PMID:27125181, PMID:27611364, PMID:27879313, PMID:28152038, PMID:28492532, PMID:28655553 NCBI chr 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Loeys-Dietz Syndrome
ClinVar
CTD
PMID:8246946, PMID:9395234, PMID:9590282, PMID:9771922, PMID:9927040, PMID:11212236, PMID:12202987, PMID:12825850, PMID:15235604, PMID:15731757, PMID:16249459, PMID:16251899, PMID:16283890, PMID:16791849, PMID:16799921, PMID:16835936, PMID:16928994, PMID:17061023, PMID:17319955, PMID:17330129, PMID:17344846, PMID:17345643, PMID:17470566, PMID:17652900, PMID:17935258, PMID:18084123, PMID:18781618, PMID:18852674, PMID:19006214, PMID:19875893, PMID:19996017, PMID:20358619, PMID:20956634, PMID:21098638, PMID:21251594, PMID:21267002, PMID:21524434, PMID:22095581, PMID:22113417, PMID:22259224, PMID:22488992, PMID:22772368, PMID:22772377, PMID:23103230, PMID:23228659, PMID:23884466, PMID:24033266, PMID:24055113, PMID:24146167, PMID:24220024, PMID:24792536, PMID:24793577, PMID:24941995, PMID:25116393, PMID:25203624, PMID:25637381, PMID:25741868, PMID:26017485, PMID:26133393, PMID:27146836, PMID:27508510, PMID:27879313, PMID:27930701, PMID:28182693, PMID:28492532, PMID:28659821, PMID:30158670 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
Loeys-Dietz syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 ClinVar
OMIM
PMID:2647812, PMID:15731757, PMID:16596670, PMID:16791849, PMID:16928994, PMID:17652900, PMID:18070134, PMID:18455604, PMID:18781618, PMID:19542084, PMID:19561605, PMID:19839986, PMID:20332227, PMID:21267002, PMID:21358634, PMID:22113417, PMID:22414221, PMID:23884466, PMID:24033266, PMID:24793577, PMID:25110237, PMID:25116393, PMID:25326635, PMID:25521989, PMID:25715477, PMID:25741868, PMID:25834947, PMID:25907466, PMID:25944730, PMID:25985138, PMID:26848186, PMID:26877057, PMID:27125181, PMID:27611364, PMID:27879313, PMID:28492532, PMID:28655553 NCBI chr 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 ClinVar PMID:16251899, PMID:18781618, PMID:19006214, PMID:22095581, PMID:22259224, PMID:23884466, PMID:24792536, PMID:25637381, PMID:25741868, PMID:28492532 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
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: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections ClinVar PMID:1569206, PMID:2005308, PMID:3495735, PMID:3536967, PMID:4750422, PMID:7611299, PMID:7951214, PMID:7977366, PMID:8406497, PMID:8541880, PMID:8563763, PMID:8791520, PMID:8894692, PMID:8941093, PMID:9241263, PMID:9338581, PMID:9399842, PMID:9401003, PMID:9452033, PMID:9837823, PMID:10441597, PMID:10464652, PMID:10486319, PMID:10533071, PMID:10612827, PMID:10647894, PMID:10874320, PMID:10942427, PMID:11068200, PMID:11108952, PMID:11137998, PMID:11139245, PMID:11143906, PMID:11170092, PMID:11175294, PMID:11251996, PMID:11524736, PMID:11700157, PMID:11722462, PMID:11748851, PMID:11826022, PMID:11880731, PMID:11933199, PMID:11967553, PMID:12068374, PMID:12161601, PMID:12203987, PMID:12203992, PMID:12402346, PMID:12446365, PMID:12651868, PMID:12700307, PMID:12938084, PMID:14598350, PMID:14695540, PMID:15032979, PMID:15054843, PMID:15161917, PMID:15241795, PMID:15583982, PMID:15733436, PMID:16220557, PMID:16222657, PMID:16273536, PMID:16333834, PMID:16342915, PMID:16476890, PMID:16571647, PMID:16677079, PMID:16756980, PMID:16835936, PMID:16905551, PMID:16971892, PMID:16995940, PMID:17224687, PMID:17253931, PMID:17418587, PMID:17618372, PMID:17627385, PMID:17657824, PMID:17663468, PMID:17679947, PMID:17680538, PMID:17701892, PMID:17884807, PMID:18079676, PMID:18087243, PMID:18435798, PMID:18471089, PMID:18615205, PMID:19002209, PMID:19012347, PMID:19159394, PMID:19161152, PMID:19293843, PMID:19328768, PMID:19349279, PMID:19446531, PMID:19533785, PMID:19618372, PMID:19659760, PMID:19720936, PMID:19780835, PMID:19802897, PMID:19839986, PMID:19863550, PMID:20082464, PMID:20200614, PMID:20375004, PMID:20564469, PMID:20591885, PMID:20886638, PMID:20979188, PMID:21332468, PMID:21542060, PMID:21594992, PMID:21594993, PMID:21683322, PMID:21883168, PMID:21895641, PMID:21907952, PMID:21932315, PMID:22262941, PMID:22393277, PMID:22539873, PMID:22772377, PMID:22913777, PMID:23133647, PMID:23278365, PMID:23684891, PMID:23719250, PMID:23744319, PMID:23897642, PMID:24033266, PMID:24039054, PMID:24161884, PMID:24199744, PMID:24296667, PMID:24635535, PMID:24665001, PMID:24793577, PMID:24833718, PMID:25053872, PMID:25101912, PMID:25652356, PMID:25656438, PMID:25736269, PMID:25741868, PMID:25907466, PMID:25944730, PMID:25979247, PMID:26026792, PMID:26133393, PMID:26272055, PMID:26333736, PMID:26621581, PMID:26770496, PMID:26787436, PMID:26899731, PMID:27112580, PMID:27146836, PMID:27175573, PMID:27234404, PMID:27353645, PMID:27611364, PMID:27724990, PMID:27906200, PMID:28117189, PMID:28492532, PMID:28539832, PMID:28650953, PMID:28941062, PMID:28973303, PMID:29357934, PMID:29543232, PMID:29848614, PMID:30311386, PMID:30371227, PMID:30675029, PMID:30739908 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by OMIM:610168
ClinVar Annotator: match by term: Loeys-Dietz syndrome 2
ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 2
ClinVar
OMIM
PMID:8246946, PMID:9590282, PMID:9771922, PMID:9927040, PMID:11212236, PMID:12202987, PMID:12821554, PMID:12825850, PMID:15235604, PMID:15731757, PMID:16027248, PMID:16249459, PMID:16251899, PMID:16283890, PMID:16333834, PMID:16791849, PMID:16799921, PMID:16835936, PMID:16885183, PMID:16928994, PMID:17061023, PMID:17319955, PMID:17330129, PMID:17344846, PMID:17345643, PMID:17418587, PMID:17470566, PMID:17652900, PMID:17935258, PMID:18084123, PMID:18781618, PMID:18827873, PMID:18852674, PMID:19006214, PMID:19159394, PMID:19542084, PMID:19875893, PMID:19996017, PMID:20358619, PMID:20829218, PMID:20956634, PMID:21098638, PMID:21267002, PMID:21524434, PMID:22095581, PMID:22113417, PMID:22488992, PMID:23103230, PMID:23228659, PMID:23884466, PMID:24033266, PMID:24055113, PMID:24220024, PMID:24793577, PMID:24941995, PMID:24983314, PMID:25116393, PMID:25203624, PMID:25326635, PMID:25326637, PMID:25637381, PMID:25644172, PMID:25741868, PMID:26017485, PMID:26133393, PMID:27100340, PMID:27508510, PMID:27879313, PMID:27930701, PMID:28225382, PMID:28344185, PMID:28492532, PMID:28659821, PMID:29543232, PMID:30158670 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
G Tmpo thymopoietin 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:16247757, PMID:23861362, PMID:24033266, PMID:24375709, PMID:25741868, PMID:27662471, PMID:28074886, PMID:28492532, PMID:28798025, PMID:30327538 NCBI chr 7:31,847,412...31,872,416
Ensembl chr 7:31,847,410...31,872,423
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
ClinVar Annotator: match by OMIM:613795
OMIM
ClinVar
PMID:15350224, PMID:16828225, PMID:21217753, PMID:21778426, PMID:21815248, PMID:22167769, PMID:23554019, PMID:24033266, PMID:24804794, PMID:25644172, PMID:25741868, PMID:25944730, PMID:28185953, PMID:28492532, PMID:29392890, PMID:29510914, PMID:29717556, PMID:30661052 NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349
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 8:68,897,746...68,967,221
Ensembl chr 8:68,898,296...68,966,108
JBrowse link
Loeys-Dietz syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:103,268,045...103,292,848
Ensembl chr13:103,268,068...103,292,854
JBrowse link
G Dusp10 dual specificity phosphatase 10 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:104,284,660...104,321,455
Ensembl chr13:104,284,660...104,321,455
JBrowse link
G Eprs glutamyl-prolyl-tRNA synthetase ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:103,300,911...103,371,651
Ensembl chr13:103,300,932...103,371,577
JBrowse link
G Esrrg estrogen-related receptor gamma ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:106,063,799...106,683,353
Ensembl chr13:106,463,368...106,683,436
JBrowse link
G Gpatch2 G patch domain containing 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:105,684,300...105,824,405
Ensembl chr13:105,684,420...105,815,606
JBrowse link
G Hlx H2.0-like homeobox ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:102,637,967...102,643,376
Ensembl chr13:102,637,769...102,643,223
JBrowse link
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:103,229,868...103,265,019
Ensembl chr13:103,231,387...103,264,906
JBrowse link
G Kctd3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:107,433,588...107,471,843
Ensembl chr13:107,433,588...107,471,843
JBrowse link
G Lyplal1 lysophospholipase-like 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:104,049,263...104,080,680
Ensembl chr13:104,049,386...104,080,631
JBrowse link
G Mark1 microtubule affinity regulating kinase 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:102,808,254...102,942,863
Ensembl chr13:102,808,253...102,942,863
JBrowse link
G Mir194-1 microRNA 194-1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:103,250,576...103,250,658
Ensembl chr13:103,250,576...103,250,658
JBrowse link
G Mtarc1 mitochondrial amidoxime reducing component 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:102,693,679...102,724,120
Ensembl chr13:102,698,546...102,721,218
JBrowse link
G Mtarc2 mitochondrial amidoxime reducing component 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:102,724,266...102,755,511
Ensembl chr13:102,724,348...102,756,174
JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:103,157,806...103,229,010
Ensembl chr13:103,157,806...103,228,423
JBrowse link
G RGD1310587 similar to hypothetical protein FLJ14146 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:102,780,885...102,790,621
Ensembl chr13:102,780,877...102,790,639
JBrowse link
G Rrp15 ribosomal RNA processing 15 homolog ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:105,155,824...105,178,907
Ensembl chr13:105,155,441...105,179,095
JBrowse link
G Slc30a10 solute carrier family 30, member 10 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:103,396,295...103,406,759
Ensembl chr13:103,396,314...103,410,363
JBrowse link
G Spata17 spermatogenesis associated 17 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:105,489,121...105,684,293
Ensembl chr13:105,489,074...105,684,374
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS
ClinVar Annotator: match by OMIM:614816
OMIM
ClinVar
PMID:22772368, PMID:22772371, PMID:23102774, PMID:24465802, PMID:25046559, PMID:25644172, PMID:25741868, PMID:26017485, PMID:26854089, PMID:27782106, PMID:28492532, PMID:28633253, PMID:28655553, PMID:29392890, PMID:29510914, PMID:30311386, PMID:31191903 NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030
JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:1631557, PMID:2618446, PMID:7737999, PMID:12529708, PMID:15639475, PMID:22943793, PMID:23824657, PMID:23861362, PMID:24238504, PMID:24798638, PMID:25136781, PMID:25447171, PMID:25637381, PMID:25741868, PMID:25835445, PMID:26184463, PMID:26188975, PMID:27848944, PMID:28166282, PMID:28240702, PMID:28425089, PMID:28492532, PMID:29247119, PMID:29392890, PMID:29907982 NCBI chr 6:109,913,757...109,936,217
Ensembl chr 6:109,913,757...109,935,533
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329
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:7737999, PMID:23824657, PMID:24798638, PMID:25136781, PMID:25741868, PMID:25835445, PMID:26184463, PMID:26188975, PMID:27848944, PMID:28425089, PMID:28492532, PMID:29392890, PMID:29907982 NCBI chr 6:109,913,757...109,936,217
Ensembl chr 6:109,913,757...109,935,533
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 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1B ClinVar PMID:8246946, PMID:9590282, PMID:9771922, PMID:9927040, PMID:11212236, PMID:12202987, PMID:12821554, PMID:12825850, PMID:15235604, PMID:15731757, PMID:16027248, PMID:16249459, PMID:16251899, PMID:16283890, PMID:16791849, PMID:16799921, PMID:16835936, PMID:16885183, PMID:16928994, PMID:17061023, PMID:17319955, PMID:17330129, PMID:17344846, PMID:17345643, PMID:17418587, PMID:17470566, PMID:17652900, PMID:17935258, PMID:18084123, PMID:18781618, PMID:18827873, PMID:18852674, PMID:19006214, PMID:19159394, PMID:19542084, PMID:19875893, PMID:19996017, PMID:20829218, PMID:20956634, PMID:21098638, PMID:21267002, PMID:21524434, PMID:22095581, PMID:22113417, PMID:22488992, PMID:23103230, PMID:23228659, PMID:23884466, PMID:24033266, PMID:24055113, PMID:24220024, PMID:24793577, PMID:24941995, PMID:24983314, PMID:25116393, PMID:25203624, PMID:25326637, PMID:25637381, PMID:25644172, PMID:25741868, PMID:26017485, PMID:26133393, PMID:27100340, PMID:27508510, PMID:27879313, PMID:27930701, PMID:28225382, PMID:28492532, PMID:28659821, PMID:29543232, PMID:30158670 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1B ClinVar PMID:16247757, PMID:23861362, PMID:24033266, PMID:24375709, PMID:25741868, PMID:27662471, PMID:28074886, PMID:28492532, PMID:28798025, PMID:30327538 NCBI chr 7:31,847,412...31,872,416
Ensembl chr 7:31,847,410...31,872,423
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 chr10:90,932,071...90,983,971
Ensembl chr10:90,932,075...90,983,928
JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO CTD Direct Evidence: marker/mechanism CTD PMID:21131976 NCBI chr 9:17,120,759...17,124,871
Ensembl chr 9:17,120,759...17,124,871
JBrowse link
G Polr1d RNA polymerase I and III subunit D ISO CTD Direct Evidence: marker/mechanism CTD PMID:21131976 NCBI chr12:9,693,828...9,727,416
Ensembl chr12:9,693,779...9,727,489
JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16938878 NCBI chr18:56,081,863...56,115,719
Ensembl chr18:56,082,195...56,115,593
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 ClinVar Annotator: match by term: Mandibulofacial dysostosis with alopecia ClinVar
OMIM
PMID:16116593, PMID:20583178, PMID:25772936 NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703
JBrowse link
Mandibulofacial Dysostosis with Mental Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Mandibulofacial dysostosis with mental deficiency ClinVar PMID:9973280, PMID:10396622, PMID:11017087, PMID:11527935, PMID:11726554, PMID:15579991, PMID:16682602, PMID:18854780, PMID:19074458, PMID:23419329, PMID:25283059, PMID:25741868, PMID:28041643, PMID:28492532, PMID:28559085, PMID:30718709 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
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: Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
ClinVar Annotator: match by OMIM:610536
DNA:mutations:multiple (human)
OMIM
ClinVar
PMID:16760738, PMID:19334086, PMID:22305528, PMID:22541558, PMID:23188108, PMID:25326635, PMID:25326637, PMID:25741868, PMID:28708303, PMID:22305528 RGD:10045557 NCBI chr10:90,932,071...90,983,971
Ensembl chr10:90,932,075...90,983,928
JBrowse link
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Runx2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by term: Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly OMIM
ClinVar
PMID:23290074, PMID:25741868, PMID:29891876 NCBI chr 9:18,564,743...18,773,092
Ensembl chr 9:18,564,927...18,773,092
JBrowse link
G Supt3h SPT3 homolog, SAGA and STAGA complex component ISO ClinVar Annotator: match by term: Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly ClinVar PMID:23290074 NCBI chr 9:18,249,565...18,604,814
Ensembl chr 9:18,319,246...18,371,856
JBrowse link
Mohr Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Intu inturned planar cell polarity protein ISO ClinVar Annotator: match by term: Mohr syndrome ClinVar PMID:27158779 NCBI chr 2:127,589,325...127,611,705
Ensembl chr 2:127,459,012...127,525,437
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 ClinVar Annotator: match by term: Syndrome of coronal craniosynostosis
ClinVar Annotator: match by term: Muenke syndrome
OMIM
ClinVar
PMID:1908846, PMID:1956068, PMID:4078868, PMID:7670477, PMID:7773297, PMID:7847369, PMID:8589699, PMID:8723106, PMID:8841188, PMID:8845844, PMID:8858131, PMID:9042914, PMID:9107244, PMID:9279753, PMID:9279764, PMID:9450868, PMID:9525367, PMID:9580776, PMID:9585583, PMID:9600744, PMID:9677066, PMID:9843059, PMID:9950359, PMID:10053006, PMID:10073901, PMID:10094188, PMID:10213050, PMID:10471491, PMID:10602123, PMID:10696568, PMID:10777366, PMID:10861678, PMID:11038465, PMID:11055896, PMID:11241532, PMID:11424131, PMID:11529856, PMID:11746040, PMID:11879084, PMID:12707965, PMID:12833394, PMID:14613973, PMID:15241680, PMID:15772091, PMID:15915095, PMID:16501574, PMID:16841094, PMID:17033969, PMID:17384684, PMID:17875876, PMID:17935505, PMID:17950653, PMID:18000976, PMID:18328977, PMID:18344207, PMID:18583390, PMID:18642369, PMID:19098178, PMID:19215249, PMID:19381019, PMID:19449410, PMID:19749790, PMID:22045636, PMID:22604720, PMID:23165795, PMID:23378035, PMID:23740942, PMID:24728327, PMID:24864036, PMID:25157968, PMID:25356217, PMID:25606676, PMID:25741868, PMID:25809207, PMID:25931420, PMID:26028288, PMID:26619011, PMID:26740388, PMID:26818779, PMID:28492532, PMID:30311386, PMID:32238909 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
multiple synostoses syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf9 fibroblast growth factor 9 ISS OMIM:186500 | OMIM:610017 | OMIM:612961 MouseDO NCBI chr15:38,341,657...38,386,945
Ensembl chr15:38,341,089...38,387,316
JBrowse link
G Gdf5 growth differentiation factor 5 ISS OMIM:186500 | OMIM:610017 | OMIM:612961 MouseDO NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
JBrowse link
G Nog noggin ISS OMIM:186500 | OMIM:610017 | OMIM:612961 MouseDO NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
JBrowse link
Multiple Synostoses Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf9 fibroblast growth factor 9 ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome ClinVar NCBI chr15:38,341,657...38,386,945
Ensembl chr15:38,341,089...38,387,316
JBrowse link
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
DNA:missense mutation:cds:p.R438L(1313G>T)(human)
ClinVar PMID:16532400 RGD:12738199 NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
JBrowse link
G Nog noggin ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
DNA:mutation:cds:1426G>C (P.W205C)(Human)
ClinVar Annotator: match by OMIM:186500
ClinVar
OMIM
PMID:3667255, PMID:6638061, PMID:10080184, PMID:11846737, PMID:15770128, PMID:16532400, PMID:17609215, PMID:20503332, PMID:25741868, PMID:10080184, PMID:16151340 RGD:1600234, RGD:12801467 NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
JBrowse link
Multiple Synostoses Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Multiple synostoses syndrome 2
ClinVar Annotator: match by OMIM:610017
OMIM
ClinVar
PMID:16127465, PMID:16532400, PMID:17384641, PMID:25741868, PMID:28492532 NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
JBrowse link
Multiple Synostoses Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf9 fibroblast growth factor 9 ISO ClinVar Annotator: match by term: Multiple synostoses syndrome 3
ClinVar Annotator: match by OMIM:612961
OMIM
ClinVar
PMID:19589401, PMID:28492532, PMID:28730625 NCBI chr15:38,341,657...38,386,945
Ensembl chr15:38,341,089...38,387,316
JBrowse link
Multiple Synostoses Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf6 growth differentiation factor 6 ISO ClinVar Annotator: match by term: MULTIPLE SYNOSTOSES SYNDROME 4 ClinVar
OMIM
PMID:25741868, PMID:26643732, PMID:29130651 NCBI chr 5:23,056,345...23,072,666
Ensembl chr 5:23,056,347...23,074,599
JBrowse link
Nager acrofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sf3b4 splicing factor 3b, subunit 4 ISO ClinVar Annotator: match by term: Nager syndrome
ClinVar Annotator: match by OMIM:154400
OMIM
ClinVar
PMID:18000904, PMID:22541558, PMID:23568615, PMID:24003905, PMID:24715698, PMID:25741868, PMID:27642715, PMID:28492532 NCBI chr 2:198,312,428...198,317,180
Ensembl chr 2:198,312,428...198,317,180
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: Nonsyndromic Trigonocephaly ClinVar NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISO DNA:deletion, duplication,missense mutation:cds:
ClinVar Annotator: match by term: CRANIOSYNOSTOSIS, METOPIC
DNA:mutations:cds:
ClinVar PMID:21931569, PMID:25741868, PMID:26893459, PMID:21931569, PMID:21931569 RGD:11554186, RGD:11554186 NCBI chr 5:101,018,009...101,166,794
Ensembl chr 5:101,020,448...101,166,651
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 OMIM:600251 OMIM
ClinVar
PMID:21703590 NCBI chr20:14,287,470...14,393,879
Ensembl chr20:14,287,457...14,393,793
JBrowse link
oculodentodigital 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 DNA:missense mutation:cds:p.P59H (human)
ClinVar Annotator: match by term: Oculodentodigital dysplasia
CTD Direct Evidence: marker/mechanism
DNA:mutation:cd:p.G138R(mouse)
ClinVar Annotator: match by OMIM:164200
DNA:missense mutation: :p.H194P (human)
DNA:missense mutations, duplication:multiple (human)
DNA:missense mutation:cds:p.G60S (mouse)
ClinVar
CTD
OMIM
PMID:220941, PMID:1057461, PMID:2309863, PMID:4209752, PMID:7815444, PMID:10331943, PMID:11470490, PMID:12457340, PMID:15108203, PMID:15192806, PMID:15551259, PMID:15637728, PMID:15879313, PMID:16155213, PMID:16211004, PMID:16378922, PMID:16709485, PMID:17256797, PMID:17420259, PMID:17509830, PMID:17687502, PMID:18003637, PMID:18077386, PMID:18079109, PMID:18660473, PMID:18946008, PMID:19057520, PMID:19638688, PMID:19725242, PMID:21215473, PMID:21670345, PMID:22090377, PMID:22179534, PMID:23103513, PMID:23304551, PMID:23465283, PMID:23550541, PMID:25741868, PMID:28492532, PMID:16219735, PMID:18003637, PMID:15637728, PMID:12457340, PMID:16155213 RGD:1578474, RGD:12910132, RGD:8662400, RGD:8662375, RGD:8662372 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
Oculodentodigital Dysplasia, Autosomal Recessive 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: Oculodentodigital dysplasia, autosomal recessive ClinVar
OMIM
PMID:2309863, PMID:11470490, PMID:12457340, PMID:14974090, PMID:14981729, PMID:15192806, PMID:15879313, PMID:16531323, PMID:16816024, PMID:17901047, PMID:18003637, PMID:18946008, PMID:19057520, PMID:19338053, PMID:21215473, PMID:21670345, PMID:22090377, PMID:22179534, PMID:23103513, PMID:23304551, PMID:23465283, PMID:23606748, PMID:25388818, PMID:25398053, PMID:25741868, PMID:27226478, PMID:28492532 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
orofacial cleft 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by null ClinVar PMID:10932188, PMID:11559849 NCBI chr 8:48,094,233...48,198,499
Ensembl chr 8:48,094,673...48,157,305
JBrowse link
orofaciodigital syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C2cd3 C2 domain containing 3 centriole elongation regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:24997988 NCBI chr 1:165,382,279...165,480,088
Ensembl chr 1:165,382,690...165,479,655
JBrowse link
G Ccdc96 coiled-coil domain containing 96 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome ClinVar NCBI chr14:79,443,151...79,445,591
Ensembl chr14:79,443,543...79,445,471
JBrowse link
G Ttc23 tetratricopeptide repeat domain 23 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome ClinVar NCBI chr 1:128,604,324...128,687,900
Ensembl chr 1:128,606,770...128,687,893
JBrowse link
G Wdpcp WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Orofaciodigital syndromes ClinVar PMID:20671153, PMID:25326635, PMID:25427950, PMID:25741868, PMID:27158779 NCBI chr14:106,393,959...106,759,511
Ensembl chr14:106,393,959...106,759,505
JBrowse link
orofaciodigital syndrome I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ofd1 OFD1, centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Orofaciodigital syndrome I
ClinVar Annotator: match by term: Oral-Facial-Digital Syndrome Type I
DNA:missense mutation:exon:243C>G (H81Q) (human)
DNA:frameshift mutations, missense mutation, nonsense mutation:multiple
DNA:deletion:exon:c.2183delG (human)
DNA:frameshift mutations, missense mutation, splice-site mutation:multiple
DNA:mutations:exon, intron:multiple
OMIM
ClinVar
PMID:9198060, PMID:9482645, PMID:11179005, PMID:11950863, PMID:16783569, PMID:18414213, PMID:18546297, PMID:22353940, PMID:24884629, PMID:25741868, PMID:26275793, PMID:26467025, PMID:28289185, PMID:28492532, PMID:28973083, PMID:18177199, PMID:16397067, PMID:21729220, PMID:11950863, PMID:23033313 RGD:11535968, RGD:11535966, RGD:11535960, RGD:11535958, RGD:11535957 NCBI chr  X:29,562,165...29,602,934
Ensembl chr  X:29,562,165...29,602,925
JBrowse link
G Tmem17 transmembrane protein 17 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome I ClinVar PMID:25741868, PMID:26982032 NCBI chr14:107,268,235...107,308,546
Ensembl chr14:107,268,128...107,308,542
JBrowse link
orofaciodigital syndrome III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 ISO ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE III ClinVar NCBI chr 2:211,183,410...211,207,458
Ensembl chr 2:211,183,311...211,207,465
JBrowse link
G Ofd1 OFD1, centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE III ClinVar NCBI chr  X:29,562,165...29,602,934
Ensembl chr  X:29,562,165...29,602,925
JBrowse link
orofaciodigital syndrome IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tctn3 tectonic family member 3 ISO ClinVar Annotator: match by term: Orofacial-digital syndrome IV
ClinVar Annotator: match by term: MOHR-MAJEWSKI SYNDROME
ClinVar Annotator: match by OMIM:258860
OMIM
ClinVar
PMID:22883145, PMID:24033266, PMID:25741868, PMID:26092869, PMID:28492532 NCBI chr 1:259,681,435...259,691,881
Ensembl chr 1:259,682,249...259,691,742
JBrowse link
orofaciodigital syndrome IX term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sclt1 sodium channel and clathrin linker 1 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome 9 ClinVar NCBI chr 2:128,523,376...128,675,668
Ensembl chr 2:128,523,636...128,675,408
JBrowse link
orofaciodigital syndrome V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddx59 DEAD-box helicase 59 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome 5
ClinVar Annotator: match by OMIM:174300
OMIM
ClinVar
PMID:23972372, PMID:25741868 NCBI chr13:53,299,872...53,324,824
Ensembl chr13:53,299,872...53,324,824
JBrowse link
Orofaciodigital Syndrome XIV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C2cd3 C2 domain containing 3 centriole elongation regulator ISO ClinVar Annotator: match by term: Orofaciodigital syndrome xiv
ClinVar Annotator: match by OMIM:615948
OMIM
ClinVar
PMID:24997988, PMID:25741868, PMID:26092869, PMID:30097616 NCBI chr 1:165,382,279...165,480,088
Ensembl chr 1:165,382,690...165,479,655
JBrowse link
Orofaciodigital Syndrome XV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RGD1304728 similar to 4933427D14Rik protein ISO ClinVar Annotator: match by term: Orofaciodigital syndrome XV ClinVar
OMIM
PMID:26643951 NCBI chr10:58,726,721...58,776,718
Ensembl chr10:58,729,306...58,771,908
JBrowse link
orofaciodigital syndrome XVI term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XVI ClinVar
OMIM
PMID:26595381 NCBI chr10:55,653,694...55,656,270
Ensembl chr10:55,653,946...55,656,270
JBrowse link
orofaciodigital syndrome XVII term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Intu inturned planar cell polarity protein ISO ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XVII ClinVar
OMIM
PMID:27158779 NCBI chr 2:127,589,325...127,611,705
Ensembl chr 2:127,459,012...127,525,437
JBrowse link
Orofaciodigital Syndrome XVIII term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift57 intraflagellar transport 57 ISO ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XVIII
ClinVar Annotator: match by term: Orofaciodigital syndrome 18
ClinVar
OMIM
PMID:25741868, PMID:27060890, PMID:32860008 NCBI chr11:53,664,638...53,731,779
Ensembl chr11:53,664,638...53,731,779
JBrowse link
Patterson Stevenson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb development membrane protein 1 ISO ClinVar Annotator: match by term: Triphalangeal thumb polysyndactyly syndrome ClinVar PMID:17300748, PMID:18178630, PMID:18417549 NCBI chr 4:2,116,094...2,274,111
Ensembl chr 4:2,116,094...2,201,749
JBrowse link
G Shh sonic hedgehog signaling molecule ISO DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
Periventricular Nodular Heterotopia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 7
ClinVar Annotator: match by term: Periventricular nodular heterotopia 7
ClinVar
OMIM
PMID:25741868, PMID:27694961, PMID:32238909 NCBI chr18:60,392,376...60,719,720
Ensembl chr18:60,392,376...60,719,720
JBrowse link
Pfeiffer syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G