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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:dysostosis
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Accession:DOID:1934 term browser browse the term
Definition:A bone development disease that results in defective ossification of bone. (DO)
Synonyms:exact_synonym: dysostoses
 primary_id: MESH:D004413
 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 chr12:16,776,664...16,779,634
Ensembl chr12:16,776,661...16,780,242 		JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO DNA:nonsense mutations, missense mutation RGD PMID:10742114 RGD:1599775 NCBI chr 1:92,689,577...92,698,125
Ensembl chr 1:92,689,577...92,697,406 		JBrowse link
G Efnb1 ephrin B1 ISO DNA:missense mutations, deletion RGD PMID:15124102 RGD:1599802 NCBI chr  X:68,297,529...68,310,335
Ensembl chr  X:68,297,492...68,349,546 		JBrowse link
G Kif3a kinesin family member 3a ISS MouseDO NCBI chr10:38,226,388...38,263,062
Ensembl chr10:38,226,741...38,260,516 		JBrowse link
3MC syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:91,226,524...91,240,244
Ensembl chr11:91,226,180...91,240,169 		JBrowse link
G Ahsg alpha-2-HS-glycoprotein ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:91,625,975...91,632,583
Ensembl chr11:91,625,975...91,634,039 		JBrowse link
G Colec11 collectin sub-family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr 6:50,952,357...50,984,845
Ensembl chr 6:50,952,357...50,999,493 		JBrowse link
G Crygs crystallin, gamma S ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:91,711,755...91,716,858
Ensembl chr11:91,711,755...91,716,858 		JBrowse link
G Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:91,656,334...91,672,800
Ensembl chr11:91,656,335...91,672,800 		JBrowse link
G Eif4a2 eukaryotic translation initiation factor 4A2 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:91,268,730...91,276,738
Ensembl chr11:91,268,731...91,275,323 		JBrowse link
G Fetub fetuin B ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:91,586,750...91,599,789
Ensembl chr11:91,586,748...91,599,310 		JBrowse link
G Hrg histidine-rich glycoprotein ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:91,559,087...91,573,982
Ensembl chr11:91,559,091...91,573,982 		JBrowse link
G Kng1 kininogen 1 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:91,317,354...91,340,148
Ensembl chr11:91,317,355...91,340,148 		JBrowse link
G Masp1 MBL associated serine protease 1 ISO ClinVar Annotator: match by term: 3MC syndrome 1 | ClinVar Annotator: match by term: Craniosynostosis with lid anomalies | ClinVar Annotator: match by term: MASP1-related condition | ClinVar Annotator: match by term: MICHELS SYNDROME
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:17937425 PMID:18266249 PMID:21035106 PMID:21258343 PMID:22966085 More... NCBI chr11:90,839,081...90,909,922
Ensembl chr11:90,839,061...90,917,470 		JBrowse link
G Rfc4 replication factor C subunit 4 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:91,254,273...91,268,727
Ensembl chr11:91,254,243...91,268,730 		JBrowse link
G Rpl39l1 ribosomal protein L39 like 1 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr10:5,962,506...5,966,621
Ensembl chr10:5,962,515...5,966,621 		JBrowse link
G Rtp1 receptor (chemosensory) transporter protein 1 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:90,927,633...90,930,149
Ensembl chr11:90,927,633...90,930,149 		JBrowse link
G Snora81 small nucleolar RNA, H/ACA box 81 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr10:28,278,802...28,278,949 JBrowse link
G St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:91,031,481...91,158,111
Ensembl chr11:91,032,450...91,040,415 		JBrowse link
G Tbccd1 TBCC domain containing 1 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:91,672,948...91,710,120
Ensembl chr11:91,672,964...91,709,883 		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)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acrocapitofemoral dysplasia 		CTD
ClinVar
OMIM
RGD		 PMID:12624140 PMID:12632327 PMID:25741868 PMID:28492532 PMID:34530144 More... RGD:1600033 NCBI chr 9:83,952,986...83,959,203
Ensembl chr 9:83,952,986...83,959,203 		JBrowse link
acrocephalosyndactylia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO DNA:missense mutation: :p.P252R (human) RGD PMID:7874169 PMID:25251565 RGD:11567243, RGD:11567271 NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 severity
treatment 		ISO
ISS 		ClinVar Annotator: match by term: ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLY | ClinVar Annotator: match by term: Acrocephalosyndactyly type I | ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly | ClinVar Annotator: match by term: Craniofacial-skeletal-dermatologic dysplasia | ClinVar Annotator: match by term: Syndactylic oxycephaly
OMIM:101200
ClinVar Annotator: match by term: Acrocephalosyndactyly type I | ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly | ClinVar Annotator: match by term: Syndactylic oxycephaly
DNA:missense mutation:cds:p.P253R (human)
DNA:missense mutation:cds:p.A172F (human)
DNA:missense mutations:cds:p.S252W, p.P253R (human)
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds: 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1641873 PMID:7607643 PMID:7655462 PMID:7668257 PMID:7719333 More... RGD:12801488, RGD:12801475, RGD:12801474, RGD:12801413, RGD:8547743 NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly ClinVar PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 More... NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO SCS,OMIM:101400;DNA:point mutation:exon:Y103X,Q119P
ClinVar Annotator: match by term: ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLY | ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:1240778 PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 More... RGD:1624353 NCBI chr 6:56,402,309...56,404,303
Ensembl chr 6:56,398,061...56,404,965 		JBrowse link
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:25741868 PMID:28492532 NCBI chr10:95,136,799...95,197,176
Ensembl chr10:95,142,458...95,197,053 		JBrowse link
G Pde4d phosphodiesterase 4D ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acrodysostosis 		CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 2:41,748,337...43,262,567
Ensembl chr 2:42,110,838...43,262,569 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acrodysostosis
OMIM:101800 | OMIM:614613 		CTD
ClinVar
MouseDO		 PMID:25741868 PMID:27825928 PMID:28492532 NCBI chr10:95,120,537...95,139,028
Ensembl chr10:95,120,487...95,139,025 		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 Arsg arylsulfatase G ISO ClinVar Annotator: match by term: Acrodysostosis 1 with or without hormone resistance ClinVar NCBI chr10:94,912,094...95,063,021
Ensembl chr10:94,913,152...95,042,447 		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 OMIM
ClinVar		 PMID:11115848 PMID:11200992 PMID:15371594 PMID:18241045 PMID:19293268 More... NCBI chr10:95,120,537...95,139,028
Ensembl chr10:95,120,487...95,139,025 		JBrowse link
G Wipi1 WD repeat domain, phosphoinositide interacting 1 ISO ClinVar Annotator: match by term: Acrodysostosis 1 with or without hormone resistance ClinVar NCBI chr10:95,042,451...95,079,679
Ensembl chr10:95,042,441...95,079,293 		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 2:41,605,686...41,697,207
Ensembl chr 2:41,624,922...41,697,202 		JBrowse link
G Pde4d phosphodiesterase 4D ISO ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance | ClinVar Annotator: match by term: PDE4D-related condition OMIM
ClinVar		 PMID:11200992 PMID:12121997 PMID:15025561 PMID:21681106 PMID:22464250 More... NCBI chr 2:41,748,337...43,262,567
Ensembl chr 2:42,110,838...43,262,569 		JBrowse link
acrofacial dysostosis Cincinnati type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1a RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Acrofacial dysostosis Cincinnati type | ClinVar Annotator: match by term: POLR1A-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25913037 PMID:28051070 More... NCBI chr 4:105,508,305...105,572,272
Ensembl chr 4:105,508,248...105,574,036 		JBrowse link
acromelic frontonasal dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zswim6 zinc finger, SWIM-type containing 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acromelic frontonasal dysostosis 		OMIM
CTD
ClinVar		 PMID:25105228 PMID:25741868 PMID:26706854 PMID:28492532 NCBI chr 2:40,944,617...41,112,340
Ensembl chr 2:40,946,435...41,112,519 		JBrowse link
Antley-Bixler syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp51 cytochrome P450, family 51 ISO RGD PMID:21705796 RGD:41412188 NCBI chr 4:30,991,693...31,010,147
Ensembl chr 4:30,991,613...31,010,450 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteodysgenesis, multisynostotic with fractures
DNA:missense mutations:cds:multiple (human) 		CTD
ClinVar
RGD		 PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... RGD:12801485 NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: POR Deficiency 		CTD
ClinVar		 PMID:9360545 PMID:12116245 PMID:14758361 PMID:15220035 PMID:15793702 More... NCBI chr12:26,587,674...26,655,612
Ensembl chr12:26,587,674...26,635,809 		JBrowse link
Antley-Bixler syndrome with disordered steroidogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Osteodysgenesis, multisynostotic with fractures
ClinVar Annotator: match by term: Trapezoidocephaly synostosis syndrome 		ClinVar PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | ClinVar Annotator: match by term: POR Deficiency OMIM
ClinVar		 PMID:9360545 PMID:9536098 PMID:12116245 PMID:14513299 PMID:14758361 More... NCBI chr12:26,587,674...26,655,612
Ensembl chr12:26,587,674...26,635,809 		JBrowse link
Antley-Bixler syndrome without disordered steroidogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis OMIM
ClinVar		 PMID:7607643 PMID:7668257 PMID:7719344 PMID:7719345 PMID:7773284 More... NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | ClinVar Annotator: match by term: PPP3CA-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29432562 PMID:33963760 NCBI chr 2:227,839,058...228,113,560
Ensembl chr 2:227,839,062...228,113,554 		JBrowse link
autosomal recessive craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive 		OMIM
CTD
ClinVar		 PMID:11146471 PMID:23951358 PMID:25741868 PMID:28492532 NCBI chr20:36,302,490...36,315,010
Ensembl chr20:36,302,352...36,319,689 		JBrowse link
Autosomal Recessive 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 7:118,190,347...118,269,965
Ensembl chr 7:118,190,478...118,269,965 		JBrowse link
Baller-Gerold syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap39 Rho GTPase activating protein 39 ISO ClinVar Annotator: match by term: Baller-Gerold syndrome ClinVar PMID:12734318 PMID:12952869 PMID:28492532 NCBI chr 7:110,326,918...110,419,500
Ensembl chr 7:110,326,918...110,419,460 		JBrowse link
G C7h8orf82 similar to human chromosome 8 open reading frame 82 ISO ClinVar Annotator: match by term: Baller-Gerold syndrome ClinVar PMID:12734318 PMID:12952869 PMID:28492532 NCBI chr 7:108,443,772...108,446,116
Ensembl chr 7:110,324,409...110,326,752 		JBrowse link
G Gpt glutamic--pyruvic transaminase ISO ClinVar Annotator: match by term: Baller-Gerold syndrome ClinVar PMID:12734318 PMID:28492532 NCBI chr 7:110,295,599...110,300,134
Ensembl chr 7:110,296,206...110,300,160 		JBrowse link
G Lrrc14 leucine rich repeat containing 14 ISO ClinVar Annotator: match by term: Baller-Gerold syndrome ClinVar PMID:12734318 PMID:12952869 PMID:28492532 NCBI chr 7:110,311,384...110,317,757
Ensembl chr 7:110,311,369...110,317,760 		JBrowse link
G Lrrc24 leucine rich repeat containing 24 ISO ClinVar Annotator: match by term: Baller-Gerold syndrome ClinVar PMID:12734318 PMID:12952869 PMID:28492532 NCBI chr 7:108,437,296...108,444,561
Ensembl chr 7:110,317,020...110,325,074 		JBrowse link
G Mfsd3 major facilitator superfamily domain containing 3 ISO ClinVar Annotator: match by term: Baller-Gerold syndrome ClinVar PMID:12734318 PMID:28492532 NCBI chr 7:110,300,254...110,304,108
Ensembl chr 7:110,302,018...110,304,112 		JBrowse link
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Baller-Gerold syndrome | ClinVar Annotator: match by term: Craniosynostosis with radial defects
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:9878247 PMID:10319867 PMID:10678659 PMID:12734318 More... NCBI chr 7:110,304,092...110,311,426
Ensembl chr 7:110,304,094...110,311,258 		JBrowse link
G Zfp251 zinc finger protein 251 ISO ClinVar Annotator: match by term: Baller-Gerold syndrome ClinVar PMID:12734318 PMID:12952869 PMID:28492532 NCBI chr 7:110,449,194...110,479,218
Ensembl chr 7:110,449,194...110,479,218 		JBrowse link
Bartsocas-Papas Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bartsocas-Papas syndrome 1 | ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE 		OMIM
CTD
ClinVar		 PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 More... NCBI chr11:50,591,926...50,614,169
Ensembl chr11:50,591,936...50,614,169 		JBrowse link
Bartsocas-Papas Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chuk component of inhibitor of nuclear factor kappa B kinase complex ISO ClinVar Annotator: match by term: Bartsocas-Papas syndrome 2 OMIM
ClinVar		 PMID:25691407 NCBI chr 1:252,908,748...252,944,273
Ensembl chr 1:252,908,749...252,944,273 		JBrowse link
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome OMIM
ClinVar		 PMID:25488817 PMID:25527630 PMID:25741868 PMID:25792360 PMID:28170084 More... NCBI chr 1:104,496,447...104,513,061
Ensembl chr 1:104,496,447...104,512,391 		JBrowse link
Beare-Stevenson cutis gyrata syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO
ISS 		ClinVar Annotator: match by term: Beare-Stevenson cutis gyrata syndrome
OMIM:123790
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
Bohring Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Bohring-Opitz syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:16412590 PMID:18414213 PMID:20880116 PMID:21576631 PMID:21706002 More... NCBI chr 3:162,273,828...162,341,742
Ensembl chr 3:162,273,828...162,341,742 		JBrowse link
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: Bohring-Opitz syndrome ClinVar PMID:25741868 NCBI chr 4:11,898,766...11,947,796
Ensembl chr 4:11,898,769...11,947,796 		JBrowse link
brachycephaly, trichomegaly, and developmental delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps23 ribosomal protein S23 ISO ClinVar Annotator: match by term: Brachycephaly, trichomegaly, and developmental delay OMIM
ClinVar		 PMID:25741868 PMID:28257692 NCBI chr 2:23,814,517...23,816,087
Ensembl chr 2:23,814,497...23,816,088 		JBrowse link
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:74,916,548...75,062,880
Ensembl chr  X:74,916,548...75,062,880 		JBrowse link
G Bmpr1b bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:22374147 PMID:25741868 PMID:25758993 PMID:28492532 NCBI chr 2:233,211,525...233,544,344
Ensembl chr 2:233,211,525...233,544,311 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:17384641 PMID:25741868 PMID:28492532 NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:164,914,401...164,918,593 		JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:12719376 NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:183,503,243...183,554,536 		JBrowse link
G Hdac4 histone deacetylase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20691407 NCBI chr 9:99,950,972...100,200,994
Ensembl chr 9:99,955,116...100,197,637 		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 3:79,978,077...79,981,393
Ensembl chr 3:79,978,076...79,981,393 		JBrowse link
G Ihh Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:25741868 NCBI chr 9:83,952,986...83,959,203
Ensembl chr 9:83,952,986...83,959,203 		JBrowse link
G Iqce IQ motif containing E ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:25741868 PMID:28488682 PMID:31549751 PMID:35599849 NCBI chr12:19,057,060...19,096,626
Ensembl chr12:19,056,307...19,096,624 		JBrowse link
G Nipbl NIPBL, cohesin loading factor ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:25741868 NCBI chr 2:59,126,676...59,314,841
Ensembl chr 2:59,126,676...59,293,277 		JBrowse link
G Prmt7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392 NCBI chr19:51,020,596...51,071,401
Ensembl chr19:51,020,512...51,072,424 		JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO ClinVar Annotator: match by term: Brachydactyly ClinVar NCBI chr17:12,124,749...12,300,044
Ensembl chr17:12,124,749...12,300,044 		JBrowse link
G Sim1 SIM bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Brachydactyly ClinVar NCBI chr20:55,409,814...55,489,450
Ensembl chr20:55,410,577...55,489,449 		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 chr18:56,918,662...56,937,032
Ensembl chr18:56,923,337...56,937,012 		JBrowse link
G Smad4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22158539 NCBI chr18:69,518,988...69,549,684
Ensembl chr18:69,518,988...69,549,684 		JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:11112658 PMID:18946009 PMID:24502542 PMID:25741868 PMID:25792522 More... NCBI chr 7:83,806,121...84,032,609
Ensembl chr 7:83,811,497...84,031,786 		JBrowse link
G Tulp1 TUB like protein 1 ISO ClinVar Annotator: match by term: Brachydactyly ClinVar PMID:15024725 PMID:19339744 PMID:23847139 PMID:24265693 PMID:25741868 More... NCBI chr20:6,413,901...6,425,833
Ensembl chr20:6,413,901...6,425,833 		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 3:164,914,401...164,918,593
Ensembl chr 3:164,914,401...164,918,593 		JBrowse link
G Ihh Indian hedgehog signaling molecule ISO
ISS 		DNA:missense mutations:CDS:p.E95K (283G>A), p.D100E (300C>A), p.E131K (391G>A) (human)
ClinVar Annotator: match by term: Brachydactyly type A1 | ClinVar Annotator: match by term: FARABEE-TYPE BRACHYDACTYLY | ClinVar Annotator: match by term: IHH-related condition
CTD Direct Evidence: marker/mechanism
OMIM:112500
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
CTD
MouseDO
OMIM
RGD		 PMID:11455389 PMID:12384778 PMID:12525541 PMID:12566523 PMID:14043746 More... RGD:1600032, RGD:12910974, RGD:11535949, RGD:12910970, RGD:12910965, RGD:12910964, RGD:12910945, RGD:12910944 NCBI chr 9:83,952,986...83,959,203
Ensembl chr 9:83,952,986...83,959,203 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:15841179 RGD:12798572 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:7,687,846...7,697,901 		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
ISS 		OMIM:615072
ClinVar Annotator: match by term: Brachydactyly type A1C | ClinVar Annotator: match by term: Brachydactyly, type a1, c 		OMIM
MouseDO
ClinVar		 PMID:9288098 PMID:20683927 PMID:25741868 NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:164,914,401...164,918,593 		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 A1D | ClinVar Annotator: match by term: Brachydactyly, type a1, d OMIM
ClinVar		 PMID:25741868 PMID:25758993 PMID:28492532 NCBI chr 2:233,211,525...233,544,344
Ensembl chr 2:233,211,525...233,544,311 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Type A2 brachydactyly 		OMIM
CTD
ClinVar		 PMID:19327734 PMID:21357617 PMID:25741868 PMID:28492532 NCBI chr 3:141,264,648...141,275,416
Ensembl chr 3:141,264,646...141,274,760 		JBrowse link
G Bmpr1b bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: Type A2 brachydactyly
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:14523231 PMID:15805157 PMID:16199547 PMID:16957682 More... NCBI chr 2:233,211,525...233,544,344
Ensembl chr 2:233,211,525...233,544,311 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO
ISS 		ClinVar Annotator: match by term: Mohr-Wriedt type brachydactyly | ClinVar Annotator: match by term: Type A2 brachydactyly
OMIM:112600
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:8589725 PMID:9288091 PMID:12121354 PMID:12357473 PMID:16014698 More... NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:164,914,401...164,918,593 		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 3:79,978,077...79,981,393
Ensembl chr 3:79,978,076...79,981,393 		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
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) 		OMIM
ClinVar
CTD
RGD		 PMID:641944 PMID:9536098 PMID:10700182 PMID:10932186 PMID:10932187 More... RGD:11537345, RGD:11535953, RGD:11535952, RGD:11535951, RGD:11535949 NCBI chr17:12,124,749...12,300,044
Ensembl chr17:12,124,749...12,300,044 		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: 		OMIM
ClinVar
RGD		 PMID:9851982 PMID:10080184 PMID:11160400 PMID:11545688 PMID:11857750 More... RGD:12801483, RGD:12801481 NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,625,875...74,628,103 		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
ISS 		ClinVar Annotator: match by term: Brachydactyly type C
OMIM:113100
CTD Direct Evidence: marker/mechanism
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) 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:8589725 PMID:9024575 PMID:9288091 PMID:12121354 PMID:12357473 More... RGD:12738202, RGD:12738200, RGD:12437083 NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:164,914,401...164,918,593 		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 ClinVar Annotator: match by term: Brachydactyly type D | ClinVar Annotator: match by term: STUB THUMB
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:12620993 PMID:12649808 PMID:16314414 PMID:24239177 PMID:25741868 More... NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:79,978,076...79,981,393 		JBrowse link
brachydactyly type E1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Brachydactyly syndrome type E ClinVar PMID:10958686 PMID:11486037 PMID:25741868 PMID:33537682 NCBI chr 9:99,950,972...100,200,994
Ensembl chr 9:99,955,116...100,197,637 		JBrowse link
G Hoxd13 homeo box D13 ISO ClinVar Annotator: match by term: Brachydactyly type E1 OMIM
ClinVar		 PMID:8614804 PMID:9207113 PMID:12414828 PMID:15333588 PMID:18399101 More... NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:79,978,076...79,981,393 		JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Brachydactyly type E1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:119,572,295...119,597,405
Ensembl chr 8:119,575,868...119,598,108 		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 term: Brachydactyly type E2 | ClinVar Annotator: match by term: PTHLH-related condition OMIM
ClinVar		 PMID:20170896 PMID:25741868 PMID:25801215 PMID:26640227 PMID:26763883 More... NCBI chr 4:181,919,400...181,930,454
Ensembl chr 4:181,919,400...181,930,454 		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 9:99,950,972...100,200,994
Ensembl chr 9:99,955,116...100,197,637 		JBrowse link
G Hoxd13 homeo box D13 ISO DNA:nonsense mutation:exon:p.R274X (c.820C>T) (human)
ClinVar Annotator: match by term: Brachydactyly type E 		ClinVar
RGD		 PMID:12620993 PMID:12649808 PMID:16314414 PMID:22233338 RGD:12743596 NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:79,978,076...79,981,393 		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 		OMIM
ClinVar
CTD		 PMID:17236141 PMID:22233338 PMID:23995701 PMID:24239177 PMID:25741868 NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:79,978,076...79,981,393 		JBrowse link
C syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd96 CD96 molecule ISO ClinVar Annotator: match by term: C syndrome | ClinVar Annotator: match by term: CD96-related condition OMIM
ClinVar		 PMID:16199547 PMID:17847009 PMID:25741868 PMID:28492532 PMID:34906502 More... NCBI chr11:68,164,926...68,239,266
Ensembl chr11:68,164,872...68,241,937 		JBrowse link
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 ClinVar Annotator: match by term: Liebenberg syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr17:8,794,051...8,805,477
Ensembl chr17:8,799,319...8,805,476 		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: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome ClinVar PMID:25741868 NCBI chr 9:43,465,993...43,476,637
Ensembl chr 9:43,465,995...43,476,752 		JBrowse link
G Megf8 multiple EGF-like-domains 8 ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:201000 | OMIM:614976
ClinVar Annotator: match by term: Carpenter syndrome 		CTD
MouseDO
ClinVar		 NCBI chr 1:90,030,057...90,079,423
Ensembl chr 1:90,030,388...90,079,422 		JBrowse link
G Rab23 RAB23, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome 		CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17503333 PMID:17576681 PMID:20358613 More... NCBI chr 9:43,440,047...43,463,327
Ensembl chr 9:43,440,273...43,463,325 		JBrowse link
Carpenter syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag2 BAG cochaperone 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 1 ClinVar PMID:25741868 NCBI chr 9:43,465,993...43,476,637
Ensembl chr 9:43,465,995...43,476,752 		JBrowse link
G Rab23 RAB23, member RAS oncogene family ISO ClinVar Annotator: match by term: Carpenter syndrome 1 | ClinVar Annotator: match by term: RAB23-related condition OMIM
ClinVar		 PMID:9536098 PMID:17503333 PMID:17576681 PMID:20358613 PMID:21412941 More... NCBI chr 9:43,440,047...43,463,327
Ensembl chr 9:43,440,273...43,463,325 		JBrowse link
Carpenter syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actmap actin maturation protease ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:91,618,012...91,627,490
Ensembl chr 1:91,617,859...91,627,489 		JBrowse link
G Akt2 AKT serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:92,004,705...92,061,420
Ensembl chr 1:92,014,859...92,061,420 		JBrowse link
G Arhgef1 Rho guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:89,626,884...89,648,823
Ensembl chr 1:89,628,266...89,649,067 		JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:89,700,645...89,729,782
Ensembl chr 1:89,700,649...89,729,825 		JBrowse link
G Axl Axl receptor tyrosine kinase ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:90,392,864...90,424,123
Ensembl chr 1:90,392,864...90,424,009 		JBrowse link
G B3gnt8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:90,263,387...90,266,292
Ensembl chr 1:90,263,827...90,270,287 		JBrowse link
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:90,315,472...90,323,143
Ensembl chr 1:90,317,200...90,323,175 		JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:90,266,731...90,295,521
Ensembl chr 1:90,261,629...90,295,749 		JBrowse link
G Blvrb biliverdin reductase B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:91,866,258...91,883,921
Ensembl chr 1:91,866,258...91,884,225 		JBrowse link
G C1h19orf47 similar to human chromosome 19 open reading frame 47 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:91,971,879...92,010,938
Ensembl chr 1:91,971,931...91,999,771 		JBrowse link
G Ccdc97 coiled-coil domain containing 97 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:90,347,003...90,354,809
Ensembl chr 1:90,347,008...90,354,764 		JBrowse link
G Cd79a CD79a molecule ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:89,621,460...89,625,813
Ensembl chr 1:89,621,460...89,625,812 		JBrowse link
G Ceacam15 CEA cell adhesion molecule 15 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:86,496,487...86,501,454
Ensembl chr 1:86,496,897...86,500,774 		JBrowse link
G Ceacam4 CEA cell adhesion molecule 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:89,504,555...89,510,831
Ensembl chr 1:89,504,555...89,510,831 		JBrowse link
G Ceacam6 CEA cell adhesion molecule 6 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:89,544,415...89,562,552
Ensembl chr 1:89,544,400...89,562,552 		JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:89,980,660...90,008,357
Ensembl chr 1:89,981,743...90,008,354 		JBrowse link
G Cnfn cornifelin ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:90,079,409...90,081,556
Ensembl chr 1:90,078,552...90,081,556 		JBrowse link
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:91,653,241...91,676,822
Ensembl chr 1:91,654,225...91,676,819 		JBrowse link
G Cyp2a1 cytochrome P450, family 2, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:91,359,278...91,372,554
Ensembl chr 1:91,359,272...91,389,730 		JBrowse link
G Cyp2a3 cytochrome P450, family 2, subfamily a, polypeptide 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:91,299,584...91,307,650
Ensembl chr 1:91,299,561...91,307,649 		JBrowse link
G Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:90,780,468...90,859,852 JBrowse link
G Cyp2f4 cytochrome P450, family 2, subfamily f, polypeptide 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:91,543,768...91,557,553
Ensembl chr 1:91,543,768...91,557,553 		JBrowse link
G Cyp2s1 cytochrome P450, family 2, subfamily s, polypeptide 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:90,437,741...90,453,073
Ensembl chr 1:90,438,224...90,453,073 		JBrowse link
G Dedd2 death effector domain containing 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:89,916,906...89,934,663
Ensembl chr 1:89,919,524...89,936,804 		JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:92,689,577...92,698,125
Ensembl chr 1:92,689,577...92,697,406 		JBrowse link
G Dmac2 distal membrane arm assembly component 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:90,250,262...90,262,592
Ensembl chr 1:90,243,532...90,262,594 		JBrowse link
G Dmrtc2 DMRT-like family C2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:89,594,120...89,601,761
Ensembl chr 1:89,594,215...89,601,762 		JBrowse link
G Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:92,606,743...92,624,089
Ensembl chr 1:92,607,303...92,614,744 		JBrowse link
G Egln2 egl-9 family hypoxia-inducible factor 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:91,579,205...91,586,985
Ensembl chr 1:91,579,206...91,587,385 		JBrowse link
G Eid2 EP300 interacting inhibitor of differentiation 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:92,665,837...92,667,162
Ensembl chr 1:92,665,481...92,675,307 		JBrowse link
G Eid2b EP300 interacting inhibitor of differentiation 2B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:92,673,119...92,674,899 JBrowse link
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:89,957,760...89,966,213
Ensembl chr 1:89,957,760...89,966,213 		JBrowse link
G Erich4 glutamate-rich 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:90,251,345...90,253,085
Ensembl chr 1:90,251,345...90,253,085 		JBrowse link
G Exosc5 exosome component 5 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:90,295,495...90,305,047
Ensembl chr 1:90,293,797...90,305,046 		JBrowse link
G Fbl fibrillarin ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:92,597,407...92,606,507
Ensembl chr 1:92,597,258...92,606,506 		JBrowse link
G Fcgbp Fc gamma binding protein ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:92,502,461...92,540,658
Ensembl chr 1:92,499,498...92,540,658 		JBrowse link
G Grik5 glutamate ionotropic receptor kainate type subunit 5 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:89,733,736...89,795,769
Ensembl chr 1:89,733,741...89,794,962 		JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:89,943,669...89,953,514
Ensembl chr 1:89,943,669...89,953,593 		JBrowse link
G Hipk4 homeodomain interacting protein kinase 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:91,938,308...91,948,680
Ensembl chr 1:91,938,278...91,948,683 		JBrowse link
G Hnrnpul1 heterogeneous nuclear ribonucleoprotein U-like 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:90,356,182...90,391,923
Ensembl chr 1:90,356,182...90,390,370 		JBrowse link
G Itpkc inositol-trisphosphate 3-kinase C ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:91,628,606...91,650,182
Ensembl chr 1:91,628,608...91,653,350 		JBrowse link
G Lgals5 galectin 5 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr10:64,351,976...64,355,137
Ensembl chr10:64,351,964...64,355,180 		JBrowse link
G Lipe lipase E, hormone sensitive type ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:90,093,433...90,112,117
Ensembl chr 1:90,093,433...90,112,117 		JBrowse link
G Ltbp4 latent transforming growth factor beta binding protein 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:91,727,769...91,759,822
Ensembl chr 1:91,727,769...91,760,006 		JBrowse link
G Lypd4 Ly6/Plaur domain containing 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:89,588,368...89,594,287
Ensembl chr 1:89,588,368...89,593,890 		JBrowse link
G Map3k10 mitogen activated protein kinase kinase kinase 10 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:92,083,376...92,101,676
Ensembl chr 1:92,083,376...92,101,676 		JBrowse link
G Megf8 multiple EGF-like-domains 8 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 | ClinVar Annotator: match by term: MEGF8-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23063620 PMID:25326635 More... NCBI chr 1:90,030,057...90,079,423
Ensembl chr 1:90,030,388...90,079,422 		JBrowse link
G Mia MIA SH3 domain containing ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:91,601,326...91,603,019
Ensembl chr 1:91,601,327...91,603,019 		JBrowse link
G Numbl NUMB-like, endocytic adaptor protein ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:91,677,437...91,701,415
Ensembl chr 1:91,677,242...91,701,424 		JBrowse link
G Pafah1b3 platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:90,009,085...90,011,611
Ensembl chr 1:90,009,085...90,011,611 		JBrowse link
G Pld3 phospholipase D family, member 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:91,949,465...91,971,834
Ensembl chr 1:91,949,467...91,961,207 		JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:92,779,449...92,792,610
Ensembl chr 1:92,779,449...92,792,610 		JBrowse link
G Pou2f2 POU class 2 homeobox 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:89,810,153...89,897,560
Ensembl chr 1:89,812,093...89,897,564 		JBrowse link
G Prr19 proline rich 19 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:90,012,307...90,017,988
Ensembl chr 1:90,014,027...90,017,997 		JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:91,912,669...91,934,754
Ensembl chr 1:91,911,999...91,937,235 		JBrowse link
G Psmc4 proteasome 26S subunit, ATPase 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:92,476,690...92,485,268
Ensembl chr 1:92,476,690...92,485,060 		JBrowse link
G Rab4b RAB4B, member RAS oncogene family ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:91,589,047...91,600,426
Ensembl chr 1:91,589,047...91,600,337 		JBrowse link
G Rabac1 Rab acceptor 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:89,691,884...89,695,017
Ensembl chr 1:89,691,884...89,695,017 		JBrowse link
G Rps16 ribosomal protein S16 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:92,770,658...92,773,603
Ensembl chr19:56,922,246...56,923,020
Ensembl chr 1:56,922,246...56,923,020 		JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:89,608,408...89,614,390
Ensembl chr 7:104,324,520...104,325,132
Ensembl chr 1:104,324,520...104,325,132 		JBrowse link
G Selenov selenoprotein V ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:92,679,034...92,686,320
Ensembl chr 1:92,679,034...92,686,320 		JBrowse link
G Sertad1 SERTA domain containing 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:91,903,297...91,906,565
Ensembl chr 1:91,891,814...91,907,001 		JBrowse link
G Sertad3 SERTA domain containing 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:91,891,141...91,894,861
Ensembl chr 1:91,893,616...91,897,110 		JBrowse link
G Shkbp1 Sh3kbp1 binding protein 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:91,764,426...91,777,959
Ensembl chr 1:91,764,426...91,778,158 		JBrowse link
G Snrpa small nuclear ribonucleoprotein polypeptide A ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:91,609,419...91,618,119
Ensembl chr 1:91,609,420...91,618,042 		JBrowse link
G Sptbn4 spectrin, beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:91,778,379...91,865,970
Ensembl chr 1:91,778,380...91,865,049 		JBrowse link
G Supt5h SPT5 homolog, DSIF elongation factor subunit ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:92,714,276...92,745,489
Ensembl chr 1:92,714,281...92,744,445 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899 		JBrowse link
G Timm50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:92,702,437...92,710,311
Ensembl chr 1:92,702,437...92,710,311 		JBrowse link
G Tmem145 transmembrane protein 145 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:90,019,727...90,029,432
Ensembl chr 1:90,019,745...90,029,427 		JBrowse link
G Tmem91 transmembrane protein 91 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:90,307,264...90,314,796
Ensembl chr 1:90,306,289...90,313,320 		JBrowse link
G Ttc9b tetratricopeptide repeat domain 9B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:92,081,026...92,083,208
Ensembl chr 1:92,080,806...92,083,203 		JBrowse link
G Zfp11 zinc finger protein 11 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr12:32,664,312...32,676,940
Ensembl chr12:32,650,373...32,677,739 		JBrowse link
G Zfp526 zinc finger protein 526 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:89,935,604...89,945,669
Ensembl chr 1:89,933,478...89,956,958 		JBrowse link
G Zfp574 zinc finger protein 574 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:89,798,412...89,805,490
Ensembl chr 1:89,760,956...89,813,198 		JBrowse link
G Znf780b zinc finger protein 780B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:92,136,761...92,159,076 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 syndactylism | ClinVar Annotator: match by term: Cenani-Lenz syndactyly syndrome | ClinVar Annotator: match by term: SYNDACTYLY, TYPE VII
ClinVar Annotator: match by term: Cenani-Lenz syndactyly syndrome | ClinVar Annotator: match by term: Syndactyly type 7
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:7891385 PMID:9182770 PMID:9536098 PMID:10756427 PMID:11260233 More... NCBI chr 3:97,885,373...97,939,366
Ensembl chr 3:97,885,400...97,939,370 		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 term: HDAC6-related condition | ClinVar Annotator: match by term: X-linked dominant chondrodysplasia, Chassaing-Lacombe type OMIM
ClinVar		 PMID:16001442 PMID:20181727 PMID:25741868 PMID:28492532 NCBI chr  X:17,222,538...17,244,373
Ensembl chr  X:17,222,856...17,244,370 		JBrowse link
cleft lip-palate-ectodermal dysplasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar Annotator: match by term: NECTIN1-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 More... NCBI chr 8:52,998,662...53,061,745
Ensembl chr 8:52,998,662...53,086,664 		JBrowse link
Cole-Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4hb prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features | ClinVar Annotator: match by term: Cole-Carpenter syndrome 		CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr10:106,335,300...106,346,911
Ensembl chr10:106,335,300...106,346,911 		JBrowse link
G Sec24d SEC24 homolog D, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:214,103,138...214,211,155
Ensembl chr 2:214,103,190...214,211,144 		JBrowse link
Cole-Carpenter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4hb prolyl 4-hydroxylase subunit beta ISO ClinVar Annotator: match by term: Cole-Carpenter syndrome 1 | ClinVar Annotator: match by term: P4HB-related condition OMIM
ClinVar		 PMID:25683117 PMID:25741868 PMID:28492532 PMID:29263160 PMID:30063094 NCBI chr10:106,335,300...106,346,911
Ensembl chr10:106,335,300...106,346,911 		JBrowse link
Cole-Carpenter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec24d SEC24 homolog D, COPII coat complex component ISO ClinVar Annotator: match by term: Cole-Carpenter syndrome 2 | ClinVar Annotator: match by term: SEC24D-related condition OMIM
ClinVar		 PMID:25683121 PMID:25741868 PMID:26467156 PMID:27942778 PMID:28492532 More... NCBI chr 2:214,103,138...214,211,155
Ensembl chr 2:214,103,190...214,211,144 		JBrowse link
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: Congenital heart defects, hamartomas of tongue, and polysyndactyly | ClinVar Annotator: match by term: Heart defect - tongue hamartoma - polysyndactyly syndrome | ClinVar Annotator: match by term: WDPCP-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20671153 PMID:25326635 More... NCBI chr14:99,847,463...100,178,392
Ensembl chr14:99,847,632...100,200,287 		JBrowse link
contractures, pterygia, and spondylocarpotarsal fusion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: CHRNG-associated hypo-akinesia disorder of prenatal onset | ClinVar Annotator: match by term: CHRNG-related disorder | ClinVar Annotator: match by term: Multiple pterygium syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 More... NCBI chr 9:95,325,984...95,332,092
Ensembl chr 9:95,325,984...95,332,092 		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: Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | ClinVar Annotator: match by term: Contractures, pterygia, and variable skeletal fusions syndrome 1A
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16642020 PMID:17576681 PMID:18414213 PMID:18470895 More... NCBI chr10:52,269,185...52,293,000
Ensembl chr10:52,269,185...52,293,000 		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 Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:78,862,286...78,877,353
Ensembl chr 3:78,862,286...78,877,353 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:95,310,316...95,318,734
Ensembl chr 9:95,310,298...95,318,745 		JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome ClinVar PMID:15704180 PMID:16199547 PMID:16826520 PMID:16826531 PMID:22167768 More... NCBI chr 9:95,325,984...95,332,092
Ensembl chr 9:95,325,984...95,332,092 		JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B | ClinVar Annotator: match by term: Contractures, pterygia, and variable skeletal fusions syndrome 1B OMIM
ClinVar		 PMID:9536098 PMID:16642020 PMID:17576681 PMID:18414213 PMID:25741868 More... NCBI chr10:52,269,185...52,293,000
Ensembl chr10:52,269,185...52,293,000 		JBrowse link
Cousin Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx15 T-box transcription factor 15 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pelviscapular dysplasia 		CTD
ClinVar
OMIM		 PMID:19068278 PMID:25741868 PMID:28492532 NCBI chr 2:189,265,373...189,376,466
Ensembl chr 2:189,265,373...189,376,466 		JBrowse link
cranioectodermal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cilk1 ciliogenesis associated kinase 1 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia ClinVar PMID:25741868 NCBI chr 8:87,868,294...87,922,995
Ensembl chr 8:87,868,156...87,922,995 		JBrowse link
G Ift122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cranioectodermal dysplasia 		CTD
ClinVar		 PMID:23826986 PMID:24027799 PMID:25741868 PMID:28492532 NCBI chr 4:150,577,525...150,648,052
Ensembl chr 4:150,539,786...150,648,052 		JBrowse link
G Ift43 intraflagellar transport 43 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cranioectodermal dysplasia 		CTD
ClinVar		 PMID:25741868 NCBI chr 6:111,460,689...111,537,224
Ensembl chr 6:111,456,476...111,537,224 		JBrowse link
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia | ClinVar Annotator: match by term: Sensenbrenner syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:37,467,729...37,487,776
Ensembl chr 6:37,467,729...37,487,776 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia ClinVar PMID:25741868 NCBI chr 6:111,435,170...111,457,646
Ensembl chr 6:111,435,170...111,456,946 		JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia | ClinVar Annotator: match by term: Sensenbrenner syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD		 PMID:22019273 PMID:23559409 PMID:23683095 PMID:25726036 PMID:25741868 More... NCBI chr14:43,396,130...43,460,012
Ensembl chr14:43,397,835...43,459,939 		JBrowse link
G Wdr35 WD repeat domain 35 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cranioectodermal dysplasia | ClinVar Annotator: match by term: Sensenbrenner syndrome 		CTD
ClinVar		 PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:28332779 More... NCBI chr 6:37,490,557...37,550,391
Ensembl chr 6:37,490,545...37,550,664 		JBrowse link
cranioectodermal dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 | ClinVar Annotator: match by term: LEVIN SYNDROME I OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17022080 PMID:17576681 PMID:19648123 More... NCBI chr 4:150,577,525...150,648,052
Ensembl chr 4:150,539,786...150,648,052 		JBrowse link
G Mbd4 methyl-CpG binding domain 4 DNA glycosylase ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 ClinVar PMID:28492532 NCBI chr 4:150,565,646...150,577,433
Ensembl chr 4:150,565,655...150,577,578 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 ClinVar PMID:28492532 NCBI chr 4:150,653,205...150,658,367
Ensembl chr 4:150,653,205...150,658,367 		JBrowse link
cranioectodermal dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:37,467,729...37,487,776
Ensembl chr 6:37,467,729...37,487,776 		JBrowse link
G Spag17 sperm associated antigen 17 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar NCBI chr 2:189,952,649...190,199,623
Ensembl chr 2:189,952,729...190,189,755 		JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 | ClinVar Annotator: match by term: WDR35-related disorder
DNA:missense mutation:cds:p.L520P (human) 		OMIM
ClinVar
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20817137 PMID:21473986 More... RGD:11553909 NCBI chr 6:37,490,557...37,550,391
Ensembl chr 6:37,490,545...37,550,664 		JBrowse link
cranioectodermal dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 3 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21378380 PMID:24027799 More... NCBI chr 6:111,460,689...111,537,224
Ensembl chr 6:111,456,476...111,537,224 		JBrowse link
cranioectodermal dysplasia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 4
DNA:missense mutation:cds:p.L750P (mouse) 		OMIM
ClinVar
RGD		 PMID:9536098 PMID:17576681 PMID:22019273 PMID:23559409 PMID:23683095 More... RGD:11552606 NCBI chr14:43,396,130...43,460,012
Ensembl chr14:43,397,835...43,459,939 		JBrowse link
Cranioectodermal dysplasia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: CRANIOECTODERMAL DYSPLASIA 5 ClinVar
OMIM		 PMID:16199547 PMID:22503633 PMID:23418020 PMID:24009529 PMID:25741868 More... NCBI chr10:14,537,134...14,624,926
Ensembl chr10:14,537,466...14,624,926 		JBrowse link
Craniofacial Microsomia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxi3 forkhead box I3 ISO ClinVar Annotator: match by term: Craniofacial microsomia 2 | ClinVar Annotator: match by term: FOXI3-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:36260083 PMID:37041148 NCBI chr 4:104,491,834...104,496,008
Ensembl chr 4:104,491,759...104,496,008 		JBrowse link
craniosynostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr 1:195,619,088...195,660,564
Ensembl chr 1:195,619,038...195,660,561 		JBrowse link
G Aloxe3 arachidonate epidermal lipoxygenase 3 ISO ClinVar Annotator: match by term: Brachycephaly ClinVar PMID:25741868 NCBI chr10:54,329,224...54,353,167
Ensembl chr10:54,329,043...54,353,166 		JBrowse link
G Alx4 ALX homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:100,067,052...100,103,624
Ensembl chr 3:100,067,052...100,103,624 		JBrowse link
G Ate1 arginyltransferase 1 ISO ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr 1:194,391,843...194,514,284
Ensembl chr 1:194,391,843...194,511,348 		JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr 1:89,700,645...89,729,782
Ensembl chr 1:89,700,649...89,729,825 		JBrowse link
G Axin2 axin 2 ISS OMIM:123100 | OMIM:182212 | OMIM:600593 | OMIM:600775 | OMIM:604757 | OMIM:615314 | OMIM:615529 MouseDO NCBI chr10:94,393,379...94,426,579
Ensembl chr10:94,395,909...94,426,575 		JBrowse link
G Bbs9 Bardet-Biedl syndrome 9 susceptibility ISO DNA:SNPs:introns:rs10262453,rs17724206,rs1884302(human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:23160099 PMID:23160099 RGD:9684995 NCBI chr 8:29,288,846...29,713,889
Ensembl chr 8:29,289,997...29,713,880 		JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23160099 NCBI chr 3:141,264,648...141,275,416
Ensembl chr 3:141,264,646...141,274,760 		JBrowse link
G Btbd16 BTB domain containing 16 ISO ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr 1:194,765,241...194,819,786
Ensembl chr 1:194,765,903...194,819,785 		JBrowse link
G C1h10orf120 similar to human chromosome 10 open reading frame 120 ISO ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr 1:185,910,420...185,913,478
Ensembl chr 1:195,340,624...195,343,676 		JBrowse link
G C1h10orf88 similar to human chromosome 10 open reading frame 88 ISO ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr 1:195,555,517...195,580,177
Ensembl chr 1:195,562,392...195,579,576 		JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr 1:89,980,660...90,008,357
Ensembl chr 1:89,981,743...90,008,354 		JBrowse link
G Clasp1 cytoplasmic linker associated protein 1 ISO ClinVar Annotator: match by term: Craniosynostosis ClinVar PMID:25741868 PMID:26522830 PMID:28492532 PMID:28669401 PMID:32628740 NCBI chr13:32,046,362...32,267,954
Ensembl chr13:32,046,444...32,267,924 		JBrowse link
G Cuzd1 CUB and zona pellucida-like domains 1 ISO ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr 1:195,519,609...195,532,733
Ensembl chr 1:195,519,609...195,532,733 		JBrowse link
G Dedd2 death effector domain containing 2 ISO ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr 1:89,916,906...89,934,663
Ensembl chr 1:89,919,524...89,936,804 		JBrowse link
G Dmbt1 deleted in malignant brain tumors 1 ISO ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr 1:195,047,702...195,126,704
Ensembl chr 1:195,047,713...195,126,704 		JBrowse link
G Efnb1 ephrin B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15166289 NCBI chr  X:68,297,529...68,310,335
Ensembl chr  X:68,297,492...68,349,546 		JBrowse link
G Erf Ets2 repressor factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lambdoidal craniosynostosis | ClinVar Annotator: match by term: Syndromic craniosynostosis
ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Lambdoid synostosis | ClinVar Annotator: match by term: Syndromic craniosynostosis
ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis 		CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:23354439 PMID:25741868 PMID:25741905 More... NCBI chr 1:89,957,760...89,966,213
Ensembl chr 1:89,957,760...89,966,213 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:26424790 NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:77,624,223...77,687,183 		JBrowse link
G Fam24a family with sequence similarity 24, member A ISO ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr 1:186,119,918...186,122,932
Ensembl chr 1:195,546,211...195,554,086 		JBrowse link
G Fam24b family with sequence similarity 24 member B ISO ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr 1:186,112,544...186,115,957
Ensembl chr 1:195,542,729...195,546,140 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Craniosynostosis ClinVar PMID:25741868 PMID:31837199 NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Craniosynostosis ClinVar PMID:25741868 PMID:28492532 NCBI chr18:53,696,197...53,901,992
Ensembl chr18:53,697,708...53,902,191 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO DNA:missense mutation:exon:p.P250R (mouse)
ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis, nonspecific
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:15605412 PMID:16764984 PMID:17154279 PMID:18160472 PMID:18985070 More... RGD:11567263 NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO DNA:substitutions:multiple (human)
ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: FGFR2-related craniosynostosis | ClinVar Annotator: match by term: Syndromic craniosynostosis
ClinVar Annotator: match by term: Brachycephaly | ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: FGFR2-related craniosynostosis
ClinVar Annotator: match by term: Brachycephaly | ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2-related craniosynostosis
ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2 related craniosynostosis
ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: FGFR2 related craniosynostosis
human cells in a rat model
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.Y105C, p.G384R (human) 		ClinVar
CTD
RGD		 PMID:1519658 PMID:1641873 PMID:1697263 PMID:2172978 PMID:4078868 More... RGD:6480630, RGD:12801469, RGD:8547554, RGD:12801484 NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO DNA:missense mutation:cds:p.P250R(human)
ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis, nonspecific 		ClinVar
RGD		 PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 More... RGD:11568028 NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		JBrowse link
G Flna filamin A ISO DNA:missense mutations:cds:multiple (human) RGD PMID:25873011 RGD:11531800 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:102,367,201...102,515,464
Ensembl chr 5:102,367,201...102,515,404 		JBrowse link
G Grik5 glutamate ionotropic receptor kainate type subunit 5 ISO ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr 1:89,733,736...89,795,769
Ensembl chr 1:89,733,741...89,794,962 		JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar PMID:28492532 NCBI chr 1:89,943,669...89,953,514
Ensembl chr 1:89,943,669...89,953,593 		JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Brachycephaly ClinVar PMID:25741868 NCBI chr10:54,322,971...54,327,776
Ensembl chr10:54,322,971...54,327,776 		JBrowse link
G Htra1 HtrA serine peptidase 1 ISO ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr 1:194,928,069...194,977,619
Ensembl chr 1:194,927,687...194,977,620 		JBrowse link
G Ift122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chr 4:150,577,525...150,648,052
Ensembl chr 4:150,539,786...150,648,052 		JBrowse link
G Ikzf5 IKAROS family zinc finger 5 ISO ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr 1:195,599,287...195,619,024
Ensembl chr 1:195,600,967...195,619,013 		JBrowse link
G Megf8 multiple EGF-like-domains 8 ISO ClinVar Annotator: match by term: Craniosynostosis ClinVar PMID:23063620 PMID:25741868 PMID:28914635 PMID:29168297 NCBI chr 1:90,030,057...90,079,423
Ensembl chr 1:90,030,388...90,079,422 		JBrowse link
G Msx2 msh homeobox 2 ISO
ISS 		craniosynostosis type 2, OMIM:604757, DNA:point mutation:exon:P148H
OMIM:123100 | OMIM:182212 | OMIM:600593 | OMIM:600775 | OMIM:604757 | OMIM:615314 		MouseDO
RGD		 PMID:8968743 RGD:1600491 NCBI chr17:11,102,284...11,107,949
Ensembl chr17:11,102,247...11,107,945 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Lambdoidal craniosynostosis ClinVar PMID:25741868 PMID:28492532 PMID:29892087 PMID:31737537 NCBI chr15:32,416,525...32,439,851
Ensembl chr15:32,416,527...32,438,194 		JBrowse link
G Nell1 neural EGFL like 1 IMP
ISO 		CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:14672347 PMID:12235118 RGD:633405 NCBI chr 1:108,845,462...109,709,858
Ensembl chr 1:108,845,462...109,709,858 		JBrowse link
G Nog noggin treatment ISO RGD PMID:19627528 RGD:8547554 NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,625,875...74,628,103 		JBrowse link
G Nsmce4a NSE4 homolog A, SMC5-SMC6 complex component ISO ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr 1:194,532,364...194,539,456
Ensembl chr 1:194,525,648...194,539,456 		JBrowse link
G Pafah1b3 platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 ISO ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr 1:90,009,085...90,011,611
Ensembl chr 1:90,009,085...90,011,611 		JBrowse link
G Plekha1 pleckstrin homology domain containing A1 ISO ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr 1:194,858,239...194,909,418
Ensembl chr 1:194,851,547...194,909,413 		JBrowse link
G Pou2f2 POU class 2 homeobox 2 ISO ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr 1:89,810,153...89,897,560
Ensembl chr 1:89,812,093...89,897,564 		JBrowse link
G Pstk phosphoseryl-tRNA kinase ISO ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr 1:186,157,730...186,168,145
Ensembl chr 1:195,587,890...195,604,035 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: FGFR2-related craniosynostosis
ClinVar Annotator: match by term: Brachycephaly 		ClinVar PMID:11992261 PMID:14644997 PMID:15723289 PMID:15987685 PMID:16358218 More... NCBI chr12:41,026,079...41,085,577
Ensembl chr12:41,043,785...41,085,577 		JBrowse link
G Rabac1 Rab acceptor 1 ISO ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr 1:89,691,884...89,695,017
Ensembl chr 1:89,691,884...89,695,017 		JBrowse link
G Smad6 SMAD family member 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:73,345,457...73,414,985
Ensembl chr 8:73,345,460...73,414,149 		JBrowse link
G Tacc2 transforming, acidic coiled-coil containing protein 2 ISO ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:17873121 PMID:28492532 PMID:31754721 NCBI chr 1:194,546,428...194,758,152
Ensembl chr 1:194,569,650...194,758,152 		JBrowse link
G Tcf12 transcription factor 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23354436 NCBI chr 8:81,371,201...81,682,337
Ensembl chr 8:81,373,321...81,679,922 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Craniosynostosis ClinVar PMID:25741868 PMID:31837199 NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:66,449,293...66,527,260 		JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1
ClinVar Annotator: match by term: Brachycephaly | ClinVar Annotator: match by term: Craniosynostosis 1
ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Lambdoid synostosis
ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2-related craniosynostosis
ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2-related craniosynostosis
ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2 related craniosynostosis 		CTD
ClinVar		 PMID:1240778 PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 More... NCBI chr 6:56,402,309...56,404,303
Ensembl chr 6:56,398,061...56,404,965 		JBrowse link
G Wdr11 WD repeat domain 11 ISO ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:193,595,606...193,641,149
Ensembl chr 1:193,595,535...193,641,142 		JBrowse link
G Wdr35 WD repeat domain 35 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20817137 NCBI chr 6:37,490,557...37,550,391
Ensembl chr 6:37,490,545...37,550,664 		JBrowse link
G Zfp526 zinc finger protein 526 ISO ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr 1:89,935,604...89,945,669
Ensembl chr 1:89,933,478...89,956,958 		JBrowse link
G Zfp574 zinc finger protein 574 ISO ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr 1:89,798,412...89,805,490
Ensembl chr 1:89,760,956...89,813,198 		JBrowse link
G Zic1 Zic family member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:100,785,282...100,797,716
Ensembl chr 8:100,787,789...100,792,427 		JBrowse link
craniosynostosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actmap actin maturation protease ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:91,618,012...91,627,490
Ensembl chr 1:91,617,859...91,627,489 		JBrowse link
G Akt2 AKT serine/threonine kinase 2 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:92,004,705...92,061,420
Ensembl chr 1:92,014,859...92,061,420 		JBrowse link
G Arhgef1 Rho guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:89,626,884...89,648,823
Ensembl chr 1:89,628,266...89,649,067 		JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:89,700,645...89,729,782
Ensembl chr 1:89,700,649...89,729,825 		JBrowse link
G Axl Axl receptor tyrosine kinase ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:90,392,864...90,424,123
Ensembl chr 1:90,392,864...90,424,009 		JBrowse link
G B3gnt8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:90,263,387...90,266,292
Ensembl chr 1:90,263,827...90,270,287 		JBrowse link
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:90,315,472...90,323,143
Ensembl chr 1:90,317,200...90,323,175 		JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:90,266,731...90,295,521
Ensembl chr 1:90,261,629...90,295,749 		JBrowse link
G Blvrb biliverdin reductase B ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:91,866,258...91,883,921
Ensembl chr 1:91,866,258...91,884,225 		JBrowse link
G C1h19orf47 similar to human chromosome 19 open reading frame 47 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:91,971,879...92,010,938
Ensembl chr 1:91,971,931...91,999,771 		JBrowse link
G Ccdc97 coiled-coil domain containing 97 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:90,347,003...90,354,809
Ensembl chr 1:90,347,008...90,354,764 		JBrowse link
G Cd79a CD79a molecule ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:89,621,460...89,625,813
Ensembl chr 1:89,621,460...89,625,812 		JBrowse link
G Ceacam15 CEA cell adhesion molecule 15 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:86,496,487...86,501,454
Ensembl chr 1:86,496,897...86,500,774 		JBrowse link
G Ceacam4 CEA cell adhesion molecule 4 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:89,504,555...89,510,831
Ensembl chr 1:89,504,555...89,510,831 		JBrowse link
G Ceacam6 CEA cell adhesion molecule 6 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:89,544,415...89,562,552
Ensembl chr 1:89,544,400...89,562,552 		JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:89,980,660...90,008,357
Ensembl chr 1:89,981,743...90,008,354 		JBrowse link
G Cnfn cornifelin ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:90,079,409...90,081,556
Ensembl chr 1:90,078,552...90,081,556 		JBrowse link
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:91,653,241...91,676,822
Ensembl chr 1:91,654,225...91,676,819 		JBrowse link
G Cyp2a1 cytochrome P450, family 2, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:91,359,278...91,372,554
Ensembl chr 1:91,359,272...91,389,730 		JBrowse link
G Cyp2a3 cytochrome P450, family 2, subfamily a, polypeptide 3 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:91,299,584...91,307,650
Ensembl chr 1:91,299,561...91,307,649 		JBrowse link
G Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:90,780,468...90,859,852 JBrowse link
G Cyp2f4 cytochrome P450, family 2, subfamily f, polypeptide 4 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:91,543,768...91,557,553
Ensembl chr 1:91,543,768...91,557,553 		JBrowse link
G Cyp2s1 cytochrome P450, family 2, subfamily s, polypeptide 1 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:90,437,741...90,453,073
Ensembl chr 1:90,438,224...90,453,073 		JBrowse link
G Dedd2 death effector domain containing 2 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:89,916,906...89,934,663
Ensembl chr 1:89,919,524...89,936,804 		JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:92,689,577...92,698,125
Ensembl chr 1:92,689,577...92,697,406 		JBrowse link
G Dmac2 distal membrane arm assembly component 2 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:90,250,262...90,262,592
Ensembl chr 1:90,243,532...90,262,594 		JBrowse link
G Dmrtc2 DMRT-like family C2 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:89,594,120...89,601,761
Ensembl chr 1:89,594,215...89,601,762 		JBrowse link
G Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:92,606,743...92,624,089
Ensembl chr 1:92,607,303...92,614,744 		JBrowse link
G Egln2 egl-9 family hypoxia-inducible factor 2 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:91,579,205...91,586,985
Ensembl chr 1:91,579,206...91,587,385 		JBrowse link
G Eid2 EP300 interacting inhibitor of differentiation 2 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:92,665,837...92,667,162
Ensembl chr 1:92,665,481...92,675,307 		JBrowse link
G Eid2b EP300 interacting inhibitor of differentiation 2B ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:92,673,119...92,674,899 JBrowse link
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:2370745 PMID:9536098 PMID:17576681 PMID:23354439 PMID:25741868 More... NCBI chr 1:89,957,760...89,966,213
Ensembl chr 1:89,957,760...89,966,213 		JBrowse link
G Erich4 glutamate-rich 4 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:90,251,345...90,253,085
Ensembl chr 1:90,251,345...90,253,085 		JBrowse link
G Exosc5 exosome component 5 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:90,295,495...90,305,047
Ensembl chr 1:90,293,797...90,305,046 		JBrowse link
G Fbl fibrillarin ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:92,597,407...92,606,507
Ensembl chr 1:92,597,258...92,606,506 		JBrowse link
G Fcgbp Fc gamma binding protein ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:92,502,461...92,540,658
Ensembl chr 1:92,499,498...92,540,658 		JBrowse link
G Grik5 glutamate ionotropic receptor kainate type subunit 5 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:89,733,736...89,795,769
Ensembl chr 1:89,733,741...89,794,962 		JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:89,943,669...89,953,514
Ensembl chr 1:89,943,669...89,953,593 		JBrowse link
G Hipk4 homeodomain interacting protein kinase 4 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:91,938,308...91,948,680
Ensembl chr 1:91,938,278...91,948,683 		JBrowse link
G Hnrnpul1 heterogeneous nuclear ribonucleoprotein U-like 1 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:90,356,182...90,391,923
Ensembl chr 1:90,356,182...90,390,370 		JBrowse link
G Itpkc inositol-trisphosphate 3-kinase C ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:91,628,606...91,650,182
Ensembl chr 1:91,628,608...91,653,350 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar NCBI chr15:2,688,535...2,861,443
Ensembl chr15:2,688,811...2,844,343 		JBrowse link
G Lgals5 galectin 5 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr10:64,351,976...64,355,137
Ensembl chr10:64,351,964...64,355,180 		JBrowse link
G Lipe lipase E, hormone sensitive type ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:90,093,433...90,112,117
Ensembl chr 1:90,093,433...90,112,117 		JBrowse link
G Ltbp4 latent transforming growth factor beta binding protein 4 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:91,727,769...91,759,822
Ensembl chr 1:91,727,769...91,760,006 		JBrowse link
G Lypd4 Ly6/Plaur domain containing 4 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:89,588,368...89,594,287
Ensembl chr 1:89,588,368...89,593,890 		JBrowse link
G Map3k10 mitogen activated protein kinase kinase kinase 10 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:92,083,376...92,101,676
Ensembl chr 1:92,083,376...92,101,676 		JBrowse link
G Megf8 multiple EGF-like-domains 8 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:90,030,057...90,079,423
Ensembl chr 1:90,030,388...90,079,422 		JBrowse link
G Mia MIA SH3 domain containing ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:91,601,326...91,603,019
Ensembl chr 1:91,601,327...91,603,019 		JBrowse link
G Numbl NUMB-like, endocytic adaptor protein ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:91,677,437...91,701,415
Ensembl chr 1:91,677,242...91,701,424 		JBrowse link
G Pafah1b3 platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:90,009,085...90,011,611
Ensembl chr 1:90,009,085...90,011,611 		JBrowse link
G Pld3 phospholipase D family, member 3 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:91,949,465...91,971,834
Ensembl chr 1:91,949,467...91,961,207 		JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:92,779,449...92,792,610
Ensembl chr 1:92,779,449...92,792,610 		JBrowse link
G Pou2f2 POU class 2 homeobox 2 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:89,810,153...89,897,560
Ensembl chr 1:89,812,093...89,897,564 		JBrowse link
G Prr19 proline rich 19 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:90,012,307...90,017,988
Ensembl chr 1:90,014,027...90,017,997 		JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:91,912,669...91,934,754
Ensembl chr 1:91,911,999...91,937,235 		JBrowse link
G Psmc4 proteasome 26S subunit, ATPase 4 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:92,476,690...92,485,268
Ensembl chr 1:92,476,690...92,485,060 		JBrowse link
G Rab4b RAB4B, member RAS oncogene family ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:91,589,047...91,600,426
Ensembl chr 1:91,589,047...91,600,337 		JBrowse link
G Rabac1 Rab acceptor 1 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:89,691,884...89,695,017
Ensembl chr 1:89,691,884...89,695,017 		JBrowse link
G Rps16 ribosomal protein S16 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:92,770,658...92,773,603
Ensembl chr19:56,922,246...56,923,020
Ensembl chr 1:56,922,246...56,923,020 		JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:89,608,408...89,614,390
Ensembl chr 7:104,324,520...104,325,132
Ensembl chr 1:104,324,520...104,325,132 		JBrowse link
G Selenov selenoprotein V ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:92,679,034...92,686,320
Ensembl chr 1:92,679,034...92,686,320 		JBrowse link
G Sertad1 SERTA domain containing 1 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:91,903,297...91,906,565
Ensembl chr 1:91,891,814...91,907,001 		JBrowse link
G Sertad3 SERTA domain containing 3 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:91,891,141...91,894,861
Ensembl chr 1:91,893,616...91,897,110 		JBrowse link
G Shkbp1 Sh3kbp1 binding protein 1 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:91,764,426...91,777,959
Ensembl chr 1:91,764,426...91,778,158 		JBrowse link
G Snrpa small nuclear ribonucleoprotein polypeptide A ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:91,609,419...91,618,119
Ensembl chr 1:91,609,420...91,618,042 		JBrowse link
G Sptbn4 spectrin, beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:91,778,379...91,865,970
Ensembl chr 1:91,778,380...91,865,049 		JBrowse link
G Supt5h SPT5 homolog, DSIF elongation factor subunit ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:92,714,276...92,745,489
Ensembl chr 1:92,714,281...92,744,445 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899 		JBrowse link
G Timm50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:92,702,437...92,710,311
Ensembl chr 1:92,702,437...92,710,311 		JBrowse link
G Tmem145 transmembrane protein 145 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:90,019,727...90,029,432
Ensembl chr 1:90,019,745...90,029,427 		JBrowse link
G Tmem91 transmembrane protein 91 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:90,307,264...90,314,796
Ensembl chr 1:90,306,289...90,313,320 		JBrowse link
G Ttc9b tetratricopeptide repeat domain 9B ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:92,081,026...92,083,208
Ensembl chr 1:92,080,806...92,083,203 		JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: CRANIOSYNOSTOSIS 1 | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: TWIST1-related craniosynostosis OMIM
ClinVar		 PMID:1240778 PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 More... NCBI chr 6:56,402,309...56,404,303
Ensembl chr 6:56,398,061...56,404,965 		JBrowse link
G Zfp11 zinc finger protein 11 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr12:32,664,312...32,676,940
Ensembl chr12:32,650,373...32,677,739 		JBrowse link
G Zfp526 zinc finger protein 526 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:89,935,604...89,945,669
Ensembl chr 1:89,933,478...89,956,958 		JBrowse link
G Zfp574 zinc finger protein 574 ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:89,798,412...89,805,490
Ensembl chr 1:89,760,956...89,813,198 		JBrowse link
G Znf780b zinc finger protein 780B ISO ClinVar Annotator: match by term: TWIST1-related craniosynostosis ClinVar PMID:28492532 NCBI chr 1:92,136,761...92,159,076 JBrowse link
craniosynostosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msx2 msh homeobox 2 ISO ClinVar Annotator: match by term: Craniosynostosis 2 | ClinVar Annotator: match by term: Warman-Mulliken-Hayward syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:7597092 PMID:8106171 PMID:8357019 PMID:8968743 PMID:9256341 More... NCBI chr17:11,102,284...11,107,949
Ensembl chr17:11,102,247...11,107,945 		JBrowse link
craniosynostosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Coronal craniosynostosis ClinVar PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 More... NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		JBrowse link
G Tcf12 transcription factor 12 ISO ClinVar Annotator: match by term: Coronal craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 3 | ClinVar Annotator: match by term: TCF12-related condition OMIM
ClinVar		 PMID:23354436 PMID:24736737 PMID:25271085 PMID:25741868 PMID:28492532 More... NCBI chr 8:81,371,201...81,682,337
Ensembl chr 8:81,373,321...81,679,922 		JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Coronal craniosynostosis ClinVar PMID:25741868 NCBI chr 6:56,402,309...56,404,303
Ensembl chr 6:56,398,061...56,404,965 		JBrowse link
craniosynostosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Craniosynostosis 4 OMIM
ClinVar		 PMID:23354439 PMID:25741868 PMID:26097063 PMID:27738187 PMID:28492532 More... NCBI chr 1:89,957,760...89,966,213
Ensembl chr 1:89,957,760...89,966,213 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Craniosynostosis 4 ClinVar PMID:25741868 PMID:28492532 PMID:29892087 PMID:31737537 NCBI chr15:32,416,525...32,439,851
Ensembl chr15:32,416,527...32,438,194 		JBrowse link
Craniosynostosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 ALX homeobox 4 ISO ClinVar Annotator: match by term: Craniosynostosis 5, susceptibility to ClinVar
OMIM		 PMID:22829454 PMID:25741868 PMID:28492532 NCBI chr 3:100,067,052...100,103,624
Ensembl chr 3:100,067,052...100,103,624 		JBrowse link
craniosynostosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zic1 Zic family member 1 ISO ClinVar Annotator: match by term: Craniosynostosis 6 | ClinVar Annotator: match by term: ZIC1-related condition OMIM
ClinVar		 PMID:25741868 PMID:26340333 PMID:28492532 NCBI chr 8:100,785,282...100,797,716
Ensembl chr 8:100,787,789...100,792,427 		JBrowse link
craniosynostosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Craniosynostosis 7 ClinVar PMID:27606499 NCBI chr 3:141,264,648...141,275,416
Ensembl chr 3:141,264,646...141,274,760 		JBrowse link
G Smad6 SMAD family member 6 susceptibility ISO ClinVar Annotator: match by term: CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: CRS7, DIGENIC | ClinVar Annotator: match by term: Craniosynostosis 7 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:22275001 PMID:25741868 PMID:27606499 More... NCBI chr 8:73,345,457...73,414,985
Ensembl chr 8:73,345,460...73,414,149 		JBrowse link
Craniosynostosis and Dental Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Craniosynostosis and dental anomalies | ClinVar Annotator: match by term: IL11RA-related condition OMIM
ClinVar		 PMID:21741611 PMID:24498618 PMID:25741868 PMID:28492532 PMID:30282020 More... NCBI chr 5:61,727,650...61,737,265
Ensembl chr 5:61,727,931...61,737,264 		JBrowse link
Craniosynostosis Syndrome, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl4 ADAMTS-like 4 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:20564469 PMID:25741868 PMID:28492532 PMID:28642162 PMID:31837199 NCBI chr 2:185,924,582...185,936,039
Ensembl chr 2:185,924,594...185,935,796 		JBrowse link
G Alg6 ALG6, alpha-1,3-glucosyltransferase ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 5:119,520,415...119,606,365
Ensembl chr 5:119,520,430...119,606,659 		JBrowse link
G Axin2 axin 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr10:94,393,379...94,426,579
Ensembl chr10:94,395,909...94,426,575 		JBrowse link
G Clasp1 cytoplasmic linker associated protein 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:26522830 PMID:28492532 PMID:28669401 PMID:32628740 NCBI chr13:32,046,362...32,267,954
Ensembl chr13:32,046,444...32,267,924 		JBrowse link
G Cnpy2 canopy FGF signaling regulator 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 7:1,332,293...1,338,081
Ensembl chr 7:1,334,335...1,340,333 		JBrowse link
G Ctnna1 catenin alpha 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:31292255 NCBI chr18:27,002,330...27,135,009
Ensembl chr18:26,999,820...27,135,007 		JBrowse link
G Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 4:118,599,356...118,616,176
Ensembl chr 4:118,599,356...118,616,176 		JBrowse link
G Dhrs3 dehydrogenase/reductase 3 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 5:162,031,853...162,065,655
Ensembl chr 5:162,031,386...162,065,653 		JBrowse link
G Efcab7 EF-hand calcium binding domain 7 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 5:119,640,841...119,691,566
Ensembl chr 5:119,640,761...119,691,563 		JBrowse link
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 1:89,957,760...89,966,213
Ensembl chr 1:89,957,760...89,966,213 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:53,696,197...53,901,992
Ensembl chr18:53,697,708...53,902,191 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:9536098 PMID:10629055 PMID:12627230 PMID:15365636 PMID:15605412 More... NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:7607643 PMID:7719345 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:7493034 PMID:8723106 PMID:8841188 PMID:8880573 PMID:9042914 More... NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		JBrowse link
G Foxd3 forkhead box D3 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 5:119,450,532...119,452,898
Ensembl chr 5:119,450,394...119,452,786 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:31292255 NCBI chr13:32,499,678...32,716,418
Ensembl chr13:32,499,678...32,716,418 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:21326280 PMID:22903559 PMID:24736735 PMID:25741868 NCBI chr17:54,134,064...54,405,198
Ensembl chr17:54,134,064...54,405,198 		JBrowse link
G Gpc4 glypican 4 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:31292255 NCBI chr  X:136,565,536...136,676,142
Ensembl chr  X:136,565,591...136,676,057 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 4:170,297,811...170,775,420
Ensembl chr 4:170,322,617...170,773,570 		JBrowse link
G Hapln2 hyaluronan and proteoglycan link protein 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 2:175,786,767...175,794,515
Ensembl chr 2:175,789,009...175,794,438 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:130,959,997...131,248,664 		JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:28492532 PMID:31837199 NCBI chr 5:61,727,650...61,737,265
Ensembl chr 5:61,727,931...61,737,264 		JBrowse link
G Itgb3bp integrin subunit beta 3 binding protein ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 5:119,575,657...119,640,974
Ensembl chr 5:119,575,248...119,640,997 		JBrowse link
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:30245513 PMID:31292255 NCBI chr16:75,787,411...75,868,584
Ensembl chr16:75,787,411...75,866,099 		JBrowse link
G Man2b1 mannosidase, alpha, class 2B, member 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr19:39,959,964...39,979,299
Ensembl chr19:39,959,965...39,979,246 		JBrowse link
G Megf8 multiple EGF-like-domains 8 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:23063620 PMID:25741868 PMID:28914635 PMID:29168297 NCBI chr 1:90,030,057...90,079,423
Ensembl chr 1:90,030,388...90,079,422 		JBrowse link
G Msx1 msh homeobox 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:28492532 PMID:31837199 NCBI chr14:77,185,802...77,189,735
Ensembl chr14:77,185,802...77,189,735 		JBrowse link
G Msx2 msh homeobox 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar NCBI chr17:11,102,284...11,107,949
Ensembl chr17:11,102,247...11,107,945 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar NCBI chr 5:62,678,197...62,697,360
Ensembl chr 5:62,678,367...62,697,343 		JBrowse link
G Pgm1 phosphoglucomutase 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 5:119,710,734...119,770,159
Ensembl chr 5:119,710,737...119,770,159 		JBrowse link
G Prrx1 paired related homeobox 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:21294718 PMID:22211708 PMID:22674740 PMID:23444262 PMID:25741868 More... NCBI chr13:78,136,783...78,205,379
Ensembl chr13:78,136,783...78,204,058 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,548,449...1,613,461 		JBrowse link
G Runx2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:23,664,952...23,990,027 		JBrowse link
G Sox11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:31292255 NCBI chr 6:49,736,773...49,738,794
Ensembl chr 6:49,736,304...49,738,691 		JBrowse link
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:28492532 PMID:31837199 NCBI chr20:13,337,399...13,443,080
Ensembl chr20:13,339,108...13,443,079 		JBrowse link
G Tcf12 transcription factor 12 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:23354436 PMID:25741868 PMID:28492532 PMID:30038786 PMID:31837199 More... NCBI chr 8:81,371,201...81,682,337
Ensembl chr 8:81,373,321...81,679,922 		JBrowse link
G Tfap2b transcription factor AP-2 beta ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:31292255 NCBI chr 9:29,282,703...29,312,568
Ensembl chr 9:29,282,825...29,312,568 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:66,449,293...66,527,260 		JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar NCBI chr 7:83,806,121...84,032,609
Ensembl chr 7:83,811,497...84,031,786 		JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:28492532 PMID:31837199 NCBI chr14:43,396,130...43,460,012
Ensembl chr14:43,397,835...43,459,939 		JBrowse link
G Zfp462 zinc finger protein 462 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:28513610 NCBI chr 5:74,465,383...74,606,020
Ensembl chr 5:74,468,643...74,606,020 		JBrowse link
Craniosynostosis with Ectopia Lentis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl4 ADAMTS-like 4 ISO ClinVar Annotator: match by term: Craniosynostosis with ectopia lentis ClinVar PMID:2056446 PMID:9536098 PMID:17576681 PMID:20564469 PMID:20702823 More... NCBI chr 2:185,924,582...185,936,039
Ensembl chr 2:185,924,594...185,935,796 		JBrowse link
Craniosynostosis, Anal Anomalies, and Porokeratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnu12 RNA, U12 small nuclear ISO ClinVar Annotator: match by term: CDAGS syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2400728 PMID:9733036 PMID:23602181 PMID:25741868 PMID:28217872 More... NCBI chr 7:116,183,590...116,183,740
Ensembl chr 7:116,183,590...116,183,740 		JBrowse link
Crouzon syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO
ISS 		ClinVar Annotator: match by term: Craniofacial dysostosis | ClinVar Annotator: match by term: Craniofacial dysostosis type 1 | ClinVar Annotator: match by term: Crouzon disease | ClinVar Annotator: match by term: Crouzon syndrome
OMIM:123500
DNA:missense mutations:CDS:multiple (human)
DNA:missense mutations:cds:p.Y281C, p.G289P (human)
DNA:missense mutations, silent mutation:cds:multiple (human)
DNA:missense mutations:cds:multiple (human)
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1519658 PMID:1641873 PMID:1697263 PMID:2172978 PMID:4078868 More... RGD:155663659, RGD:12801472, RGD:12801470, RGD:12801466 NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Craniofacial dysostosis ClinVar PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 More... NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		JBrowse link
Crouzon syndrome-acanthosis nigricans syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: CROUZONODERMOSKELETAL SYNDROME | ClinVar Annotator: match by term: Crouzon syndrome-acanthosis nigricans syndrome
DNA:missense mutation:p.A391E(human)
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD
RGD		 PMID:1908846 PMID:7493034 PMID:7647778 PMID:7649548 PMID:7670477 More... RGD:11568032 NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		JBrowse link
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: TSR2-related condition ClinVar PMID:24033266 PMID:28492532 NCBI chr  X:23,466,791...23,509,773
Ensembl chr  X:23,467,530...23,509,979 		JBrowse link
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | ClinVar Annotator: match by term: TSR2-related condition OMIM
ClinVar		 PMID:11424144 PMID:24033266 PMID:24942156 PMID:25741868 PMID:28492532 NCBI chr  X:23,507,141...23,515,711
Ensembl chr  X:23,507,142...23,515,659 		JBrowse link
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps26 ribosomal protein S26 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:17483715 PMID:19816270 PMID:20116044 PMID:23718193 PMID:24675553 More... NCBI chr 7:1,641,846...1,643,404
Ensembl chr 7:1,641,421...1,643,399 		JBrowse link
G Rps28 ribosomal protein S28 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | ClinVar Annotator: match by term: RPS28-related condition OMIM
ClinVar		 PMID:24942156 PMID:25741868 PMID:28492532 NCBI chr 7:15,309,964...15,311,333
Ensembl chr16:72,591,164...72,591,373
Ensembl chr 7:72,591,164...72,591,373
Ensembl chr16:72,591,164...72,591,373 		JBrowse link
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:11424144 PMID:24942156 NCBI chr  X:23,507,141...23,515,711
Ensembl chr  X:23,507,142...23,515,659 		JBrowse link
Diaphanospondylodysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmper BMP-binding endothelial regulator ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BMPER-related condition | ClinVar Annotator: match by term: Diaphanospondylodysostosis 		OMIM
CTD
ClinVar		 PMID:20869035 PMID:21990102 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 8:30,008,049...30,253,201
Ensembl chr 8:30,008,148...30,434,359 		JBrowse link
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: Familial digital arthropathy-brachydactyly
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:4056805 PMID:8179305 PMID:11891693 PMID:20037586 PMID:20037587 More... NCBI chr12:47,599,161...47,638,143
Ensembl chr12:47,599,035...47,638,143 		JBrowse link
distal arthrogryposis type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 2A (Freeman-Sheldon) OMIM
ClinVar		 PMID:16199547 PMID:16642020 PMID:18695058 PMID:19142688 PMID:25256237 More... NCBI chr10:52,269,185...52,293,000
Ensembl chr10:52,269,185...52,293,000 		JBrowse link
DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lyset lysosomal enzyme trafficking factor ISO ClinVar Annotator: match by term: Dysostosis multiplex, Ain-Naz type OMIM
ClinVar		 PMID:25741868 PMID:33252156 PMID:36074821 NCBI chr 6:127,649,401...127,651,143
Ensembl chr 6:127,649,450...127,652,661 		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 term: NECTIN4-related condition OMIM
ClinVar		 PMID:20691405 PMID:21346770 PMID:24577405 PMID:25529316 PMID:25741868 More... NCBI chr13:86,335,027...86,354,152
Ensembl chr13:86,335,831...86,353,967 		JBrowse link
fibular hypoplasia and complex brachydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Du pan syndrome ClinVar PMID:228900 PMID:258150 NCBI chr 2:218,052,555...218,628,414
Ensembl chr 2:218,052,555...218,537,259 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO
ISS 		ClinVar Annotator: match by term: Acromesomelic dysplasia 2B | ClinVar Annotator: match by term: Du pan syndrome
OMIM:228900
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:T1322C (p.L441P)(human) 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:12121354 PMID:16014698 PMID:16127465 PMID:17384641 PMID:18629880 More... RGD:12437084 NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:164,914,401...164,918,593 		JBrowse link
Filippi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ckap2l cytoskeleton associated protein 2-like ISO ClinVar Annotator: match by term: CKAP2L-related condition | ClinVar Annotator: match by term: Filippi syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8867657 PMID:15365457 PMID:18553552 PMID:25439729 PMID:25741868 More... NCBI chr 3:136,950,390...136,977,503
Ensembl chr 3:136,950,381...136,977,565 		JBrowse link
Fine-Lubinsky Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdlbp high density lipoprotein binding protein ISO ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:25741868 NCBI chr 9:101,395,491...101,465,446
Ensembl chr 9:101,397,305...101,465,379 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:22162478 PMID:25741868 NCBI chr12:26,587,674...26,655,612
Ensembl chr12:26,587,674...26,635,809 		JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:25741868 NCBI chr 3:97,495,229...97,504,279
Ensembl chr 3:97,495,229...97,505,052 		JBrowse link
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
ISS 		ClinVar Annotator: match by term: Focal dermal hypoplasia | ClinVar Annotator: match by term: PORCN-related condition
OMIM:305600
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:17546030 PMID:17546031 PMID:18325042 PMID:19277062 PMID:19309688 More... NCBI chr  X:16,957,811...16,970,440
Ensembl chr  X:16,957,810...16,970,439 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: GORLIN-GOLTZ SYNDROME ClinVar PMID:1347096 PMID:8658145 PMID:11941477 PMID:16199547 PMID:16301862 More... NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,548,449...1,613,461 		JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: GORLIN-GOLTZ SYNDROME ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:135,808,856...135,829,087
Ensembl chr 5:135,808,895...135,828,986 		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 ISS
ISO 		ClinVar Annotator: match by term: CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS | ClinVar Annotator: match by term: Cryptophthalmos with other malformations | ClinVar Annotator: match by term: Fraser syndrome
CTD Direct Evidence: marker/mechanism 		MouseDO
ClinVar
CTD		 PMID:9536098 PMID:12766769 PMID:16199547 PMID:17163535 PMID:17576681 More... NCBI chr14:13,095,370...13,506,895
Ensembl chr14:13,095,370...13,504,664 		JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISS OMIM:219000 MouseDO NCBI chr 5:102,367,201...102,515,464
Ensembl chr 5:102,367,201...102,515,404 		JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS | ClinVar Annotator: match by term: Cryptophthalmos with other malformations 		CTD
ClinVar
MouseDO		 PMID:17163535 PMID:18203166 PMID:25741868 PMID:26275891 PMID:26552811 More... NCBI chr 2:139,753,055...139,891,046
Ensembl chr 2:139,753,055...139,891,046 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISS
ISO 		OMIM:219000
ClinVar Annotator: match by term: GRIP1-related condition 		MouseDO
ClinVar		 PMID:21383172 PMID:25741868 PMID:28492532 NCBI chr 7:56,820,501...57,477,877
Ensembl chr 7:56,820,704...57,468,417 		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: Cryptophthalmos syndrome | ClinVar Annotator: match by term: FRAS1-related condition | ClinVar Annotator: match by term: Fraser syndrome 1 		ClinVar
OMIM
RGD		 PMID:9536098 PMID:12766769 PMID:16199547 PMID:16894541 PMID:17163535 More... RGD:1598960 NCBI chr14:13,095,370...13,506,895
Ensembl chr14:13,095,370...13,504,664 		JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Fraser syndrome 1 ClinVar PMID:9536098 PMID:17576681 PMID:18203166 PMID:25741868 PMID:26275891 More... NCBI chr 2:139,753,055...139,891,046
Ensembl chr 2:139,753,055...139,891,046 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO ClinVar Annotator: match by term: Fraser syndrome 1 ClinVar PMID:16199547 PMID:22510445 PMID:24357607 PMID:25741868 PMID:28492532 NCBI chr 7:56,820,501...57,477,877
Ensembl chr 7:56,820,704...57,468,417 		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: FREM2-related condition | ClinVar Annotator: match by term: Fraser syndrome 2 ClinVar
OMIM
RGD		 PMID:15838507 PMID:18203166 PMID:18671281 PMID:24115501 PMID:24700879 More... RGD:13464328, RGD:126781714 NCBI chr 2:139,753,055...139,891,046
Ensembl chr 2:139,753,055...139,891,046 		JBrowse link
G Frem2fpl Fras1 related extracellular matrix protein 2;fpl mutant IAGP RGD PMID:21756877 PMID:23336369 RGD:13464328, RGD:126781714
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 chr20:29,685,876...29,762,685
Ensembl chr20:29,685,876...29,762,682 		JBrowse link
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:28492532 NCBI chr10:57,154,226...57,163,455
Ensembl chr10:57,154,226...57,163,455 		JBrowse link
G Aspa aspartoacylase ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:28492532 NCBI chr10:58,390,204...58,443,790
Ensembl chr10:58,379,410...58,443,769 		JBrowse link
G Bclaf1 BCL2-associated transcription factor 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr 1:16,904,572...16,937,106
Ensembl chr 1:16,914,118...16,936,801 		JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr10:54,259,349...54,261,203
Ensembl chr10:54,256,949...54,261,387 		JBrowse link
G Gnb5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr 8:84,956,629...84,985,576
Ensembl chr 8:84,953,815...84,986,888 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 OMIM
ClinVar		 PMID:16199547 PMID:21383172 PMID:22510445 PMID:24033266 PMID:24357607 More... NCBI chr 7:56,820,501...57,477,877
Ensembl chr 7:56,820,704...57,468,417 		JBrowse link
G Lsm10 LSM10, U7 small nuclear RNA associated ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr 5:143,649,817...143,660,391
Ensembl chr 5:143,615,360...143,663,986 		JBrowse link
G Med23 mediator complex subunit 23 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr 1:22,309,613...22,377,745
Ensembl chr 1:22,309,613...22,356,754 		JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr 1:54,985,305...54,996,979
Ensembl chr 1:54,985,301...54,997,064 		JBrowse link
G Myo18b myosin XVIIIb ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:28492532 NCBI chr12:49,421,062...49,614,127
Ensembl chr12:49,407,451...49,614,126 		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 1:105,530,196...105,557,358
Ensembl chr 1:105,531,085...105,558,023 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,548,449...1,613,461 		JBrowse link
G Spata22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:28492532 NCBI chr10:58,443,736...58,461,578
Ensembl chr10:58,417,415...58,461,908 		JBrowse link
G Tlcd3a TLC domain containing 3A ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr10:61,556,193...61,563,529
Ensembl chr10:61,556,199...61,563,527 		JBrowse link
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr10:60,780,268...60,793,671
Ensembl chr10:60,780,268...60,793,592 		JBrowse link
G Zxda zinc finger, X-linked, duplicated A ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr  X:63,770,485...63,775,624
Ensembl chr  X:63,771,823...63,775,713 		JBrowse link
Freeman-Sheldon syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniocarpotarsal dysplasia | ClinVar Annotator: match by term: Freeman-Sheldon syndrome | ClinVar Annotator: match by term: WHISTLING FACE-WINDMILL VANE HAND SYNDROME 		CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:16642020 PMID:17576681 PMID:18414213 More... NCBI chr10:52,269,185...52,293,000
Ensembl chr10:52,269,185...52,293,000 		JBrowse link
frontonasal dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx3 ALX homeobox 3 ISO ClinVar Annotator: match by term: ALX3-related condition OMIM
ClinVar		 PMID:28492532 NCBI chr 2:197,919,381...197,929,795
Ensembl chr 2:197,919,381...197,929,795 		JBrowse link
frontonasal dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 ALX homeobox 4 ISO OMIM NCBI chr 3:100,067,052...100,103,624
Ensembl chr 3:100,067,052...100,103,624 		JBrowse link
Gillessen-Kaesbach-Nishimura Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: ALG9-associated autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: Gillessen-Kaesbach-Nishimura syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:15945070 PMID:16199547 PMID:25741868 PMID:25966638 PMID:26467025 More... NCBI chr 8:60,013,429...60,085,159
Ensembl chr 8:60,009,618...60,085,054 		JBrowse link
Goldenhar syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chaf1a chromatin assembly factor 1 subunit A ISO ClinVar Annotator: match by term: Craniofacial microsomia ClinVar NCBI chr 9:961,225...987,825
Ensembl chr 9:961,084...987,868 		JBrowse link
G Foxi3 forkhead box I3 ISS
ISO 		OMIM:164210
ClinVar Annotator: match by term: Craniofacial microsomia | ClinVar Annotator: match by term: Craniofacial microsomia 1 		MouseDO
ClinVar		 PMID:28492532 PMID:36260083 PMID:37041148 NCBI chr 4:104,491,834...104,496,008
Ensembl chr 4:104,491,759...104,496,008 		JBrowse link
G Frk fyn-related Src family tyrosine kinase ISO ClinVar Annotator: match by term: Craniofacial microsomia 1 ClinVar NCBI chr20:39,820,441...39,926,065
Ensembl chr20:39,820,295...39,926,362 		JBrowse link
G Pax1 paired box 1 ISO ClinVar Annotator: match by term: Craniofacial microsomia ClinVar NCBI chr 3:155,244,961...155,254,836
Ensembl chr 3:155,245,529...155,254,836 		JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: Craniofacial microsomia 1
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:7811205 PMID:25741868 PMID:34344887 NCBI chr 1:211,999,777...212,040,686
Ensembl chr 1:211,999,778...212,020,113 		JBrowse link
G Zic3 Zic family member 3 ISS OMIM:164210 MouseDO NCBI chr  X:141,159,623...141,165,587
Ensembl chr  X:141,149,594...141,170,464 		JBrowse link
G Zyg11b zyg-11 family member B, cell cycle regulator ISO ClinVar Annotator: match by term: Craniofacial microsomia 1 ClinVar PMID:25741868 PMID:32738032 NCBI chr 5:122,985,548...123,042,735
Ensembl chr 5:128,214,293...128,271,446 		JBrowse link
Grange Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dap3 death associated protein 3 ISO ClinVar Annotator: match by term: Grange syndrome | ClinVar Annotator: match by term: YY1AP1-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:176,617,151...176,645,293
Ensembl chr 2:176,617,155...176,644,270 		JBrowse link
Greig cephalopolysyndactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk13 cyclin-dependent kinase 13 ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 More... NCBI chr17:51,945,975...52,040,218
Ensembl chr17:51,946,701...52,037,257 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO
ISS 		ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome | ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome, severe | ClinVar Annotator: match by term: Polysyndactyly with peculiar skull shape
OMIM:175700
DNA:mutations:exon, intron:multiple
DNA:nonsense mutations, missense mutations, splice-site mutations:exon, intron:multiple
DNA:mutations: :multiple
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1879832 PMID:6641002 PMID:9302279 PMID:9536098 PMID:10441342 More... RGD:12738222, RGD:12738208, RGD:12738205, RGD:12738141 NCBI chr17:54,134,064...54,405,198
Ensembl chr17:54,134,064...54,405,198 		JBrowse link
G Inhba inhibin subunit beta A ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 More... NCBI chr17:53,787,159...53,810,942
Ensembl chr17:53,791,444...53,804,508 		JBrowse link
G Mplkip M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 More... NCBI chr17:52,069,154...52,071,978
Ensembl chr17:52,069,154...52,071,720 		JBrowse link
G Rala RAS like proto-oncogene A ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 More... NCBI chr17:51,787,682...51,840,738
Ensembl chr17:51,787,699...51,840,733 		JBrowse link
G Sugct succinylCoA:glutarate-CoA transferase ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 More... NCBI chr17:52,072,012...52,929,852
Ensembl chr17:52,072,052...52,930,281 		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 Annotator: match by term: RSPO2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29769720 NCBI chr 7:75,987,217...76,123,984
Ensembl chr 7:75,987,817...76,123,654 		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 | ClinVar Annotator: match by term: Bilginturan syndrome | ClinVar Annotator: match by term: PDE3A-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:4774535 PMID:25741868 PMID:25961942 PMID:28492532 PMID:29758562 More... NCBI chr 4:175,904,276...176,170,531
Ensembl chr 4:175,904,077...176,169,270 		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: TBX4-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:11303519 PMID:15106123 PMID:16199547 PMID:23592887 PMID:24033266 More... NCBI chr10:71,228,145...71,258,222
Ensembl chr10:71,197,727...71,258,218 		JBrowse link
Jackson-Weiss syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES | ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1456217 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 More... NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES | ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.R344G (human) 		OMIM
ClinVar
CTD
RGD		 PMID:7581378 PMID:7655462 PMID:7668257 PMID:7719329 PMID:7719344 More... RGD:12801470 NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
Joubert syndrome with orofaciodigital defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cplane1 ciliogenesis and planar polarity effector complex subunit 1 ISO ClinVar Annotator: match by term: OFDS VI | ClinVar Annotator: match by term: Oral-facial-digital syndrome type 6 | ClinVar Annotator: match by term: Orofaciodigital syndrome VI | ClinVar Annotator: match by term: POLYDACTYLY, CLEFT LIP/PALATE OR LINGUAL LUMP, AND PSYCHOMOTOR RETARDATION | ClinVar Annotator: match by term: VARADI SYNDROME | ClinVar Annotator: match by term: Varadi-Papp syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:10488899 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 2:58,996,119...59,096,817
Ensembl chr 2:58,996,130...59,096,817 		JBrowse link
Juberg-Hayward Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 ISO ClinVar Annotator: match by term: Cleft lip/palate with abnormal thumbs and microcephaly | ClinVar Annotator: match by term: Juberg-Hayward syndrome | ClinVar Annotator: match by term: Orocraniodigital syndrome OMIM
ClinVar		 PMID:1642282 PMID:15821733 PMID:16380922 PMID:18411254 PMID:18414213 More... NCBI chr15:44,210,124...44,230,785
Ensembl chr15:44,210,641...44,231,304
Ensembl chr15:44,210,641...44,231,304 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome
ClinVar Annotator: match by term: Cleft lip/palate with abnormal thumbs and microcephaly | ClinVar Annotator: match by term: Cranio-oro-digital syndrome 		ClinVar PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 More... NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
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: CERVICAL VERTEBRAL FUSION, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Klippel-Feil syndrome 		CTD
ClinVar		 PMID:18425797 PMID:19129173 PMID:23307924 PMID:23620759 PMID:24033266 More... NCBI chr 5:27,793,561...27,809,884
Ensembl chr 5:27,793,552...27,811,825 		JBrowse link
G Meox1 mesenchyme homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:87,318,668...87,338,169
Ensembl chr10:87,318,695...87,337,976 		JBrowse link
G Myo18b myosin XVIIIb ISO ClinVar Annotator: match by term: Klippel-Feil syndrome ClinVar PMID:25741868 NCBI chr12:49,421,062...49,614,127
Ensembl chr12:49,407,451...49,614,126 		JBrowse link
Klippel-Feil syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap418 cilia and flagella associated protein 418 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant ClinVar PMID:24442880 PMID:28492532 NCBI chr 5:28,789,580...28,812,891
Ensembl chr 5:28,792,692...28,812,887 		JBrowse link
G Gdf6 growth differentiation factor 6 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant OMIM
ClinVar		 PMID:9129173 PMID:18425797 PMID:19129173 PMID:19864492 PMID:20057906 More... NCBI chr 5:27,793,561...27,809,884
Ensembl chr 5:27,793,552...27,811,825 		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 More... NCBI chr 7:124,706,246...124,867,234
Ensembl chr 7:124,706,080...124,867,239 		JBrowse link
G Mterf3 mitochondrial transcription termination factor 3 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant ClinVar PMID:24442880 PMID:28492532 NCBI chr 7:65,711,654...65,729,926
Ensembl chr 7:65,711,662...65,729,895 		JBrowse link
G Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant ClinVar PMID:24442880 PMID:28492532 NCBI chr 5:24,147,712...24,171,981
Ensembl chr 5:28,945,014...28,969,667 		JBrowse link
G Plekhf2 pleckstrin homology and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant ClinVar PMID:24442880 PMID:28492532 NCBI chr 5:28,888,358...28,905,350
Ensembl chr 5:28,868,469...28,923,514 		JBrowse link
G Ptdss1 phosphatidylserine synthase 1 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant ClinVar PMID:24442880 PMID:28492532 NCBI chr 7:65,730,250...65,792,024
Ensembl chr 7:65,729,629...65,794,359 		JBrowse link
G Uqcrb ubiquinol-cytochrome c reductase binding protein ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant ClinVar PMID:24442880 PMID:28492532 NCBI chr 7:65,700,016...65,705,382
Ensembl chr 7:65,700,029...65,705,558 		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 term: Klippel-Feil syndrome 2, autosomal recessive | ClinVar Annotator: match by term: MEOX1-related condition OMIM
ClinVar		 PMID:23290072 PMID:24073994 PMID:25741868 PMID:28492532 NCBI chr10:87,318,668...87,338,169
Ensembl chr10:87,318,695...87,337,976 		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 NCBI chr 8:96,854,393...96,858,963
Ensembl chr 8:96,854,508...96,858,963 		JBrowse link
Klippel-Feil syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsm4 acyl-CoA synthetase medium-chain family member 4 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 1:183,485,259...183,509,712
Ensembl chr 1:183,485,259...183,509,712 		JBrowse link
G Aicda activation-induced cytidine deaminase ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:157,446,120...157,455,958
Ensembl chr 4:157,444,697...157,456,356 		JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:157,472,879...157,500,496
Ensembl chr 4:157,472,868...157,498,909 		JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:159,240,573...159,254,378
Ensembl chr 4:159,237,562...159,254,418 		JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:159,099,013...159,109,770
Ensembl chr 4:159,098,918...159,109,714 		JBrowse link
G C1rl complement C1r subcomponent like ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:159,080,495...159,097,066
Ensembl chr 4:159,080,495...159,097,066 		JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:159,116,549...159,128,736
Ensembl chr 4:159,116,549...159,128,736 		JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:157,747,419...157,756,609
Ensembl chr 4:157,746,089...157,776,323 		JBrowse link
G Cd163 CD163 molecule ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:158,770,751...158,804,146
Ensembl chr 4:158,770,749...158,804,146 		JBrowse link
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:159,321,203...159,325,072
Ensembl chr 4:159,321,014...159,325,068 		JBrowse link
G Clec4a1 C-type lectin domain family 4, member A1 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:157,845,811...157,857,926
Ensembl chr 4:157,845,752...157,858,273 		JBrowse link
G Clec4a3 C-type lectin domain family 4, member A3 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:157,885,899...157,896,728
Ensembl chr 4:157,885,895...157,896,727 		JBrowse link
G Clec4b2 C-type lectin domain family 4, member B2 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:158,148,434...158,171,933
Ensembl chr 4:158,148,314...158,172,249 		JBrowse link
G Clec4d C-type lectin domain family 4, member D ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:158,275,287...158,286,978
Ensembl chr 4:158,275,341...158,287,055 		JBrowse link
G Clec4e C-type lectin domain family 4, member E ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:158,292,624...158,298,607
Ensembl chr 4:158,293,311...158,298,467 		JBrowse link
G Clec6a-ps1 C-type lectin domain family 6, member A, pseudogene 1 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:158,225,100...158,244,722
Ensembl chr 4:158,225,099...158,244,295 		JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:159,017,795...159,051,069
Ensembl chr 4:159,017,795...159,051,069 		JBrowse link
G Dppa3 developmental pluripotency-associated 3 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:157,523,426...157,526,810
Ensembl chr 5:93,143,318...93,144,472
Ensembl chr 4:93,143,318...93,144,472 		JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:159,195,545...159,203,826
Ensembl chr 4:159,195,564...159,203,826 		JBrowse link
G Eno2 enolase 2 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:159,258,371...159,267,220
Ensembl chr 4:159,258,371...159,267,220 		JBrowse link
G Fam90a1a family with sequence similarity 90 member A1A ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr16:76,801,218...76,808,469 JBrowse link
G Foxj2 forkhead box J2 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:157,718,990...157,745,468
Ensembl chr 4:157,718,992...157,745,450 		JBrowse link
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 4:157,503,547...157,507,923
Ensembl chr 4:157,502,884...157,507,907 		JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:159,325,741...159,331,443
Ensembl chr 4:159,325,742...159,331,445 		JBrowse link
G Grcc10 gene rich cluster, C10 gene ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:159,237,562...159,239,223 JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:159,154,690...159,196,176
Ensembl chr 4:159,154,158...159,196,358 		JBrowse link
G Lrrc23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:159,267,572...159,277,764
Ensembl chr 4:159,267,574...159,277,794 		JBrowse link
G Mfap5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:157,399,919...157,422,448
Ensembl chr 4:157,395,597...157,422,448 		JBrowse link
G Mir141 microRNA 141 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:159,209,525...159,209,618 JBrowse link
G Mir200c microRNA 200c ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:159,209,965...159,210,033 JBrowse link
G Nanog Nanog homeobox ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:157,615,687...157,623,061
Ensembl chr 4:157,615,687...157,623,061 		JBrowse link
G Necap1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:157,775,890...157,790,992
Ensembl chr 4:157,775,896...157,790,984 		JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:159,332,514...159,348,428
Ensembl chr 4:159,332,434...159,348,004 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:158,956,973...158,983,581
Ensembl chr 4:158,956,974...158,982,733 		JBrowse link
G Phb2 prohibitin 2 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:159,203,948...159,208,561
Ensembl chr 4:159,203,926...159,209,231 		JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:159,212,320...159,237,069
Ensembl chr 4:159,212,320...159,237,069 		JBrowse link
G Rimklb ribosomal modification protein rimK-like family member B ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:157,336,950...157,396,970
Ensembl chr 4:157,344,414...157,378,727 		JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:157,632,887...157,698,034
Ensembl chr 4:157,632,887...157,646,186 		JBrowse link
G Spsb2 splA/ryanodine receptor domain and SOCS box containing 2 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:159,298,362...159,301,568
Ensembl chr 4:159,299,159...159,309,021 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:159,301,558...159,305,088
Ensembl chr 4:159,301,562...159,305,413 		JBrowse link
G Usp5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:159,305,927...159,321,345
Ensembl chr 4:159,305,938...159,320,956 		JBrowse link
Klippel-Feil syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo18b myosin XVIIIb ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | ClinVar Annotator: match by term: Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism | ClinVar Annotator: match by term: MYO18B-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25748484 More... NCBI chr12:49,421,062...49,614,127
Ensembl chr12:49,407,451...49,614,126 		JBrowse link
lacrimoauriculodentodigital syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf10 fibroblast growth factor 10 ISS OMIM:149730 MouseDO NCBI chr 2:52,533,939...52,610,980
Ensembl chr 2:52,533,939...52,610,980 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: LADD syndrome 1 | ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 1 OMIM
ClinVar		 PMID:7719344 PMID:8651276 PMID:9002682 PMID:9462761 PMID:9719378 More... NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 1 ClinVar PMID:8078586 PMID:8723101 PMID:17033969 PMID:17256796 PMID:17320202 More... NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		JBrowse link
lacrimoauriculodentodigital syndrome 2 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: LADD SYNDROME 2 | ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 2 OMIM
ClinVar		 PMID:1908846 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 More... NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		JBrowse link
lacrimoauriculodentodigital syndrome 3 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: LADD syndrome 3 | ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 3 OMIM
ClinVar		 PMID:15654336 PMID:16501574 PMID:16630169 PMID:25741868 PMID:28492532 More... NCBI chr 2:52,533,939...52,610,980
Ensembl chr 2:52,533,939...52,610,980 		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: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome ClinVar PMID:16630169 PMID:17213838 PMID:25741868 PMID:26955834 PMID:28492532 NCBI chr 2:52,533,939...52,610,980
Ensembl chr 2:52,533,939...52,610,980 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome 		CTD
ClinVar		 PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome ClinVar PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		JBrowse link
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Laurin-Sandrow syndrome 		OMIM
CTD
ClinVar		 PMID:16059937 PMID:24456159 NCBI chr 4:6,649,824...6,820,525
Ensembl chr 4:6,649,821...6,822,238 		JBrowse link
Loeys-Dietz syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:17517255 PMID:19647838 PMID:24871971 PMID:25741868 PMID:28492532 More... NCBI chr10:13,886,948...13,944,286
Ensembl chr10:13,887,083...13,944,285 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:2049575 PMID:21086191 PMID:24033266 PMID:24055113 PMID:25637381 More... NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:54,866,632...54,903,232 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:31,606,475...31,755,097
Ensembl chr 3:31,606,486...31,753,020 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar NCBI chr 9:54,940,768...55,090,151
Ensembl chr 9:54,940,764...55,090,150 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:1729284 PMID:7611299 PMID:8880577 PMID:8882780 PMID:10766875 More... NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:53,696,197...53,901,992
Ensembl chr18:53,697,708...53,902,191 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:22511748 PMID:24033266 PMID:25433566 PMID:25741868 PMID:26017485 More... NCBI chr10:1,250,554...1,345,681
Ensembl chr10:1,263,194...1,345,678 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:28492532 NCBI chr11:79,288,243...79,535,450
Ensembl chr11:79,288,243...79,535,659 		JBrowse link
G Smad2 SMAD family member 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:16199547 PMID:28492532 NCBI chr18:72,124,792...72,193,345
Ensembl chr18:72,124,863...72,187,388 		JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A 		CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21217753 PMID:21778426 More... NCBI chr 8:73,022,204...73,132,324
Ensembl chr 8:73,024,760...73,132,324 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A 		CTD
ClinVar
MouseDO		 PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 More... NCBI chr13:100,691,540...100,793,227
Ensembl chr13:100,692,953...100,792,856 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome 		CTD
ClinVar		 PMID:23824657 PMID:25741868 PMID:25835445 PMID:26188975 PMID:28492532 More... NCBI chr 6:111,435,170...111,457,646
Ensembl chr 6:111,435,170...111,456,946 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A 		CTD
ClinVar
MouseDO		 PMID:2511639 PMID:2647812 PMID:9536098 PMID:10025408 PMID:15731757 More... NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:66,449,293...66,527,260 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A 		CTD
ClinVar
MouseDO		 PMID:8246946 PMID:9395234 PMID:9536098 PMID:9590282 PMID:9771922 More... NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:124,674,986...124,761,469 		JBrowse link
Loeys-Dietz syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 5 | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 5 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 OMIM
ClinVar		 PMID:2511639 PMID:2647812 PMID:9536098 PMID:10025408 PMID:15731757 More... NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:66,449,293...66,527,260 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 5 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 ClinVar PMID:16251899 PMID:16928994 PMID:18781618 PMID:18852674 PMID:19006214 More... NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:124,674,986...124,761,469 		JBrowse link
Loeys-Dietz syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 		ClinVar PMID:845663 PMID:1301946 PMID:1569206 PMID:2005308 PMID:2030732 More... NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 		OMIM
ClinVar		 PMID:8199354 PMID:8246946 PMID:8317497 PMID:9395234 PMID:9536098 More... NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:124,674,986...124,761,469 		JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 2
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE II | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 		ClinVar PMID:9536098 PMID:16247757 PMID:17576681 PMID:18484607 PMID:19881469 More... NCBI chr 7:27,529,977...27,554,980
Ensembl chr 7:27,529,978...27,554,937 		JBrowse link
Loeys-Dietz syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: ANEURYSMS-OSTEOARTHRITIS SYNDROME | ClinVar Annotator: match by term: LOEYS-DIETZ SYNDROME WITH OSTEOARTHRITIS | ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C | ClinVar Annotator: match by term: SMAD3-related condition OMIM
ClinVar		 PMID:9536098 PMID:10092624 PMID:11224571 PMID:15350224 PMID:16828225 More... NCBI chr 8:73,022,204...73,132,324
Ensembl chr 8:73,024,760...73,132,324 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C ClinVar PMID:28492532 PMID:30796334 NCBI chr 8:73,345,457...73,414,985
Ensembl chr 8:73,345,460...73,414,149 		JBrowse link
Loeys-Dietz syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aida axin interactor, dorsalization associated ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:97,471,931...97,499,531
Ensembl chr13:97,471,604...97,499,535 		JBrowse link
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:99,397,127...99,425,056
Ensembl chr13:99,400,115...99,425,053 		JBrowse link
G Brox BRO1 domain and CAAX motif containing ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:97,451,736...97,471,598
Ensembl chr13:97,451,737...97,471,519 		JBrowse link
G C13h1orf115 similar to human chromosome 1 open reading frame 115 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:98,953,841...98,963,577
Ensembl chr13:98,953,843...98,963,810 		JBrowse link
G Disp1 dispatched RND transporter family member 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:97,252,574...97,398,329
Ensembl chr13:97,252,574...97,398,460 		JBrowse link
G Dusp10 dual specificity phosphatase 10 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:98,145,317...98,183,304
Ensembl chr13:98,145,893...98,183,304 		JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:99,431,955...99,503,510
Ensembl chr13:99,433,130...99,503,509 		JBrowse link
G Esrrg estrogen-related receptor gamma ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:101,699,043...102,316,877
Ensembl chr13:101,889,706...102,316,877 		JBrowse link
G Fam177b family with sequence similarity 177 member B ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:97,435,189...97,441,261 JBrowse link
G Gpatch2 G patch domain containing 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:101,316,413...101,457,109
Ensembl chr13:101,316,413...101,457,109 		JBrowse link
G Hhipl2 HHIP like 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:97,586,296...97,606,223
Ensembl chr13:97,586,341...97,606,223 		JBrowse link
G Hlx H2.0-like homeobox ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:98,811,852...98,817,264
Ensembl chr13:98,811,856...98,817,264 		JBrowse link
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:99,363,035...99,397,068
Ensembl chr13:99,362,696...99,397,068 		JBrowse link
G Kcnk2 potassium two pore domain channel subfamily K member 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:103,297,387...103,494,686
Ensembl chr13:103,297,393...103,494,686 		JBrowse link
G Kctd3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:103,041,488...103,080,069
Ensembl chr13:103,041,490...103,080,009 		JBrowse link
G Lyplal1 lysophospholipase-like 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:100,158,060...100,189,339
Ensembl chr13:100,158,060...100,189,503 		JBrowse link
G Mark1 microtubule affinity regulating kinase 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:98,981,727...99,086,998
Ensembl chr13:98,983,020...99,086,701 		JBrowse link
G Mia3 MIA SH3 domain ER export factor 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:97,502,040...97,547,155
Ensembl chr13:97,494,275...97,543,587 		JBrowse link
G Mir194-1 microRNA 194-1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:99,382,716...99,382,798
Ensembl chr13:99,382,716...99,382,798 		JBrowse link
G Mtarc1 mitochondrial amidoxime reducing component 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:98,854,235...98,894,208
Ensembl chr13:98,871,289...98,894,252 		JBrowse link
G Mtarc2 mitochondrial amidoxime reducing component 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:98,894,347...98,928,754
Ensembl chr13:98,897,108...98,928,781 		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 PMID:28544325 NCBI chr13:99,288,984...99,362,817
Ensembl chr13:99,288,647...99,361,053 		JBrowse link
G Rrp15 ribosomal RNA processing 15 homolog ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:100,807,729...100,830,812
Ensembl chr13:100,807,722...100,830,834 		JBrowse link
G Slc30a10 solute carrier family 30, member 10 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:99,529,664...99,584,442
Ensembl chr13:99,529,790...99,544,213 		JBrowse link
G Spata17 spermatogenesis associated 17 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:101,137,415...101,316,221
Ensembl chr13:101,137,415...101,316,376 		JBrowse link
G Taf1a TATA-box binding protein associated factor, RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:97,543,772...97,579,742
Ensembl chr13:97,560,820...97,579,737 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 OMIM
ClinVar		 PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 More... NCBI chr13:100,691,540...100,793,227
Ensembl chr13:100,692,953...100,792,856 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:2618446 PMID:24798638 PMID:25835445 PMID:28425089 PMID:28492532 NCBI chr 6:111,435,170...111,457,646
Ensembl chr 6:111,435,170...111,456,946 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr13:102,368,783...103,035,230
Ensembl chr13:102,368,783...103,035,217 		JBrowse link
Loeys-Dietz syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esrrb estrogen-related receptor beta ISO ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chr 6:111,738,662...111,894,087
Ensembl chr 6:111,738,662...111,894,087 		JBrowse link
G Gpatch2l G patch domain containing 2-like ISO ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chr 6:111,614,344...111,666,603
Ensembl chr 6:111,614,416...111,666,602 		JBrowse link
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chr 6:111,460,689...111,537,224
Ensembl chr 6:111,456,476...111,537,224 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 5 | ClinVar Annotator: match by term: Rienhoff syndrome OMIM
ClinVar		 PMID:1631557 PMID:2618446 PMID:7737999 PMID:9536098 PMID:9683588 More... NCBI chr 6:111,435,170...111,457,646
Ensembl chr 6:111,435,170...111,456,946 		JBrowse link
G Ttll5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chr 6:111,214,048...111,431,892
Ensembl chr 6:111,214,103...111,431,891 		JBrowse link
Loeys-Dietz syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad2 SMAD family member 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 6 OMIM
ClinVar		 PMID:15210694 PMID:25741868 PMID:26247899 PMID:28283438 PMID:28492532 More... NCBI chr18:72,124,792...72,193,345
Ensembl chr18:72,124,863...72,187,388 		JBrowse link
Mandibulofacial Dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Mandibulofacial dysostosis 		ClinVar
RGD		 PMID:25741868 PMID:23188108 RGD:10045556 NCBI chr10:88,304,992...88,352,229
Ensembl chr10:88,304,992...88,346,299 		JBrowse link
G Polr1b RNA polymerase I subunit B ISO ClinVar Annotator: match by term: Treacher Collins-Franceschetti syndrome ClinVar PMID:31649276 NCBI chr 3:136,787,130...136,811,608
Ensembl chr 3:136,787,107...136,811,607 		JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO CTD Direct Evidence: marker/mechanism CTD PMID:21131976 NCBI chr 9:22,233,318...22,237,430
Ensembl chr 9:22,233,305...22,237,428 		JBrowse link
G Polr1d RNA polymerase I and III subunit D ISO CTD Direct Evidence: marker/mechanism CTD PMID:21131976 NCBI chr12:13,084,505...13,118,069
Ensembl chr12:13,084,512...13,095,627 		JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: TREACHER COLLINS-FRANCESCHETTI SYNDROME 		CTD
ClinVar		 PMID:16938878 PMID:25741868 PMID:28492532 NCBI chr18:56,537,437...56,570,727
Ensembl chr18:56,537,437...56,570,727 		JBrowse link
mandibulofacial dysostosis with alopecia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednra endothelin receptor type A ISO
ISS 		OMIM:616367
ClinVar Annotator: match by term: Mandibulofacial dysostosis with alopecia 		OMIM
MouseDO
ClinVar		 PMID:16116593 PMID:20583178 PMID:25741868 PMID:25772936 PMID:28492532 NCBI chr19:47,137,360...47,207,961
Ensembl chr19:47,137,771...47,201,284 		JBrowse link
Mandibulofacial Dysostosis with Mental Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL RETARDATION ClinVar PMID:9973280 PMID:10396622 PMID:11017087 PMID:11527935 PMID:11726554 More... NCBI chr 2:212,849,470...212,986,730
Ensembl chr 2:212,755,803...212,986,729 		JBrowse link
mandibulofacial dysostosis, Guion-Almeida type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO ClinVar Annotator: match by term: EFTUD2-related condition | ClinVar Annotator: match by term: Mandibulofacial dysostosis-microcephaly syndrome
DNA:mutations:multiple (human) 		OMIM
ClinVar
RGD		 PMID:9536098 PMID:16199547 PMID:16760738 PMID:17576681 PMID:19334086 More... RGD:10045557 NCBI chr10:88,304,992...88,352,229
Ensembl chr10:88,304,992...88,346,299 		JBrowse link
Mesoaxial Synostotic Syndactyly with Phalangeal Reduction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bhlha9 basic helix-loop-helix family, member a9 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BHLHA9-related condition | ClinVar Annotator: match by term: Mesoaxial synostotic syndactyly with phalangeal reduction 		OMIM
CTD
ClinVar		 PMID:9783716 PMID:15039974 PMID:25466284 PMID:25741868 PMID:28492532 NCBI chr10:62,011,787...62,012,908
Ensembl chr10:62,011,787...62,012,908 		JBrowse link
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly 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 with or without brachydactyly | ClinVar Annotator: match by term: RUNX2-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9207800 PMID:10521292 PMID:10545612 PMID:10980549 PMID:11768584 More... NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:23,664,952...23,990,027 		JBrowse link
G Supt3h SPT3 homolog, SAGA and STAGA complex component ISO ClinVar Annotator: match by term: Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly ClinVar PMID:23290074 NCBI chr 9:23,375,889...23,704,229
Ensembl chr 9:23,376,136...23,704,466 		JBrowse link
Muenke syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO
ISS 		ClinVar Annotator: match by term: MUENKE NONSYNDROMIC CORONAL CRANIOSYNOSTOSIS | ClinVar Annotator: match by term: Muenke nonsyndromic coronal craniosynostosis | ClinVar Annotator: match by term: Muenke syndrome
OMIM:602849
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		JBrowse link
Multiple Pterygium Syndrome, Lethal Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpg alkaline phosphatase, germ cell ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 9:95,187,995...95,205,127
Ensembl chr 9:95,198,334...95,205,742 		JBrowse link
G Alpi alkaline phosphatase, intestinal ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 9:95,221,314...95,224,780
Ensembl chr 9:95,221,314...95,224,780 		JBrowse link
G Alpp alkaline phosphatase, placental ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 9:95,213,763...95,216,509
Ensembl chr 9:95,213,374...95,219,451 		JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar		 PMID:6287911 PMID:7619526 PMID:7863154 PMID:9158151 PMID:9221765 More... NCBI chr 3:78,862,286...78,877,353
Ensembl chr 3:78,862,286...78,877,353 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar		 PMID:8872460 PMID:9536098 PMID:11435464 PMID:11782989 PMID:16199547 More... NCBI chr 9:95,310,316...95,318,734
Ensembl chr 9:95,310,298...95,318,745 		JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar		 PMID:16199547 PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 More... NCBI chr 9:95,325,984...95,332,092
Ensembl chr 9:95,325,984...95,332,092 		JBrowse link
G Dis3l2 DIS3-like 3'-5' exoribonuclease 2 ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 9:94,802,056...95,184,523
Ensembl chr 9:94,804,382...95,184,522 		JBrowse link
G Ecel1 endothelin converting enzyme-like 1 ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 9:95,267,417...95,276,508
Ensembl chr 9:95,264,618...95,274,575 		JBrowse link
G Prss56 serine protease 56 ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 9:95,289,984...95,307,877
Ensembl chr 9:95,302,772...95,307,877 		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 chr15:36,325,552...36,369,995
Ensembl chr15:36,325,599...36,367,926 		JBrowse link
G Gdf5 growth differentiation factor 5 ISS OMIM:186500 | OMIM:610017 | OMIM:612961 MouseDO NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:164,914,401...164,918,593 		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 PMID:25741868 NCBI chr15:36,325,552...36,369,995
Ensembl chr15:36,325,599...36,367,926 		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
RGD		 PMID:16532400 RGD:12738199 NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:164,914,401...164,918,593 		JBrowse link
G Nog noggin ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
DNA:mutation:cds:1426G>C (P.W205C)(Human) 		ClinVar
OMIM
RGD		 PMID:3667255 PMID:6638061 PMID:10080184 PMID:11846737 PMID:15770128 More... RGD:1600234, RGD:12801467 NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,625,875...74,628,103 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9024575 PMID:9288091 PMID:12357473 PMID:16005596 PMID:16127465 More... NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:164,914,401...164,918,593 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FGF9-related condition | ClinVar Annotator: match by term: Multiple synostoses syndrome 3 		OMIM
CTD
ClinVar		 PMID:19589401 PMID:25741868 PMID:28492532 PMID:28730625 PMID:36980996 NCBI chr15:36,325,552...36,369,995
Ensembl chr15:36,325,599...36,367,926 		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 OMIM
ClinVar		 PMID:18425797 PMID:19129173 PMID:23307924 PMID:23620759 PMID:24033266 More... NCBI chr 5:27,793,561...27,809,884
Ensembl chr 5:27,793,552...27,811,825 		JBrowse link
Nager acrofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col10a1 collagen type X alpha 1 chain ISO ClinVar Annotator: match by term: Nager syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr20:39,737,536...39,744,518
Ensembl chr20:39,716,822...39,751,440 		JBrowse link
G Nt5dc1 5'-nucleotidase domain containing 1 ISO ClinVar Annotator: match by term: Nager syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr20:38,105,677...38,208,613
Ensembl chr20:39,660,707...39,786,449 		JBrowse link
G Sf3b4 splicing factor 3B subunit 4 ISO ClinVar Annotator: match by term: Nager syndrome | ClinVar Annotator: match by term: SF3B4-related acrofacial dysostosis | ClinVar Annotator: match by term: SF3B4-related condition
CTD Direct Evidence: marker/mechanism
DNA:mutations:exon:multiple (human)
DNA:mutations, haploinsufficiency:exon:multiple (human) 		OMIM
ClinVar
CTD
RGD		 PMID:16199547 PMID:22541558 PMID:23568615 PMID:24003905 PMID:25741868 More... RGD:155804295, RGD:11062353 NCBI chr 2:186,421,667...186,426,419
Ensembl chr 2:186,421,636...186,426,833 		JBrowse link
Nonsyndromic Trigonocephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Trigonocephaly, nonsyndromic ClinVar NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855 		JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISO DNA:deletion, duplication,missense mutation:cds:
DNA:mutations:cds: 		RGD PMID:21931569 PMID:21931569 RGD:11554186, RGD:11554186 NCBI chr 5:102,367,201...102,515,464
Ensembl chr 5:102,367,201...102,515,404 		JBrowse link
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oculomaxillofacial dysostosis | ClinVar Annotator: match by term: Oculomaxillofacial dysplasia with oblique facial clefts 		OMIM
CTD
ClinVar		 PMID:21703590 PMID:25741868 PMID:28492532 NCBI chr20:13,337,399...13,443,080
Ensembl chr20:13,339,108...13,443,079 		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
ISS 		DNA:missense mutation:cds:p.P59H (human)
ClinVar Annotator: match by term: Oculodentodigital dysplasia
OMIM:164200 | OMIM:257850
CTD Direct Evidence: marker/mechanism
DNA:mutation:cd:p.G138R(mouse)
DNA:missense mutation: :p.H194P (human)
DNA:missense mutations, duplication:multiple (human)
DNA:missense mutation:cds:p.G60S (mouse) 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:220941 PMID:1057461 PMID:2309863 PMID:4209752 PMID:7815444 More... RGD:1578474, RGD:12910132, RGD:8662400, RGD:8662375, RGD:8662372 NCBI chr20:36,302,490...36,315,010
Ensembl chr20:36,302,352...36,319,689 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2309863 PMID:11146471 PMID:11470490 PMID:12457340 PMID:14729836 More... NCBI chr20:36,302,490...36,315,010
Ensembl chr20:36,302,352...36,319,689 		JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISO ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive ClinVar PMID:28492532 NCBI chr20:35,902,281...36,133,161
Ensembl chr20:35,902,700...36,133,057 		JBrowse link
orofacial cleft 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Orofacial cleft 7 ClinVar PMID:10932188 PMID:11559849 PMID:32554531 NCBI chr 8:52,998,662...53,061,745
Ensembl chr 8:52,998,662...53,086,664 		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 1:164,127,304...164,225,088
Ensembl chr 1:164,127,281...164,225,086 		JBrowse link
G Cfap184 cilia and flagella associated protein 184 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome ClinVar NCBI chr14:74,276,568...74,279,072
Ensembl chr14:78,486,414...78,507,808 		JBrowse link
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Orofaciodigital syndrome ClinVar PMID:25741868 NCBI chr  X:31,647,000...31,687,768
Ensembl chr  X:31,647,000...31,687,884 		JBrowse link
G Ttc23 tetratricopeptide repeat domain 23 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome ClinVar NCBI chr 1:130,656,040...130,739,670
Ensembl chr 1:130,656,110...130,739,673 		JBrowse link
G Wdpcp WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Orofaciodigital syndrome ClinVar PMID:9536098 PMID:17576681 PMID:20671153 PMID:25326635 PMID:25427950 More... NCBI chr14:99,847,463...100,178,392
Ensembl chr14:99,847,632...100,200,287 		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
ISS 		ClinVar Annotator: match by term: Oral-Facial-Digital Syndrome Type I | ClinVar Annotator: match by term: Orofaciodigital syndrome I
OMIM:311200
CTD Direct Evidence: marker/mechanism
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
MouseDO
CTD
RGD		 PMID:9198060 PMID:9482645 PMID:9536098 PMID:11179005 PMID:11950863 More... RGD:11535968, RGD:11535966, RGD:11535960, RGD:11535958, RGD:11535957 NCBI chr  X:31,647,000...31,687,768
Ensembl chr  X:31,647,000...31,687,884 		JBrowse link
G Tmem17 transmembrane protein 17 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome I ClinVar PMID:25741868 PMID:26982032 NCBI chr14:96,483,648...96,524,238
Ensembl chr14:100,685,093...100,725,470 		JBrowse link
orofaciodigital syndrome II 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 II ClinVar PMID:27158779 NCBI chr 2:125,528,965...125,613,295
Ensembl chr 2:125,529,208...125,613,295 		JBrowse link
G Nek1 NIMA-related kinase 1 susceptibility ISO ClinVar Annotator: match by term: Mohr syndrome | ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME II ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27455347 PMID:27530628 More... NCBI chr16:34,009,092...34,137,418
Ensembl chr16:34,009,094...34,128,576 		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: Orofaciodigital syndrome III ClinVar PMID:27894351 PMID:28492532 NCBI chr 2:198,717,333...198,741,689
Ensembl chr 2:198,717,896...198,741,581 		JBrowse link
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Orofaciodigital syndrome III ClinVar PMID:25741868 NCBI chr  X:31,647,000...31,687,768
Ensembl chr  X:31,647,000...31,687,884 		JBrowse link
G Tmem231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome III ClinVar PMID:25741868 PMID:25869670 PMID:26489029 PMID:28492532 PMID:34354814 NCBI chr19:39,883,077...39,904,296
Ensembl chr19:56,792,329...56,820,094 		JBrowse link
orofaciodigital syndrome IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by term: Orofacial-digital syndrome IV ClinVar PMID:28492532 NCBI chr 1:249,374,810...249,502,310
Ensembl chr 1:249,374,836...249,502,317 		JBrowse link
G Tctn3 tectonic family member 3 ISO ClinVar Annotator: match by term: MOHR-MAJEWSKI SYNDROME | ClinVar Annotator: match by term: Orofacial-digital syndrome IV | ClinVar Annotator: match by term: Orofaciodigital syndrome IV
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2692869 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22883145 More... NCBI chr 1:249,363,428...249,374,698
Ensembl chr 1:249,363,428...249,374,841 		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 IX ClinVar NCBI chr 2:126,533,436...126,691,879
Ensembl chr 2:126,533,560...126,691,971 		JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome IX ClinVar PMID:20159594 PMID:24285566 PMID:25741868 PMID:32060556 PMID:32573025 NCBI chr20:35,902,281...36,133,161
Ensembl chr20:35,902,700...36,133,057 		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: DDX59-related condition | ClinVar Annotator: match by term: Orofaciodigital syndrome V
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:16278897 PMID:23972372 PMID:25741868 PMID:28492532 PMID:28711741 More... NCBI chr13:50,427,940...50,452,893
Ensembl chr13:50,427,936...50,453,208 		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: C2CD3-related condition | ClinVar Annotator: match by term: Orofaciodigital syndrome xiv OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24997988 PMID:25741868 More... NCBI chr 1:164,127,304...164,225,088
Ensembl chr 1:164,127,281...164,225,086 		JBrowse link
orofaciodigital syndrome XIX term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scnm1 sodium channel modifier 1 ISO ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XIX ClinVar PMID:36084634 NCBI chr 2:182,700,883...182,705,119
Ensembl chr 2:185,389,892...185,394,214 		JBrowse link
Orofaciodigital Syndrome XV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4933427D14Rikl RIKEN cDNA 4933427D14 gene like ISO ClinVar Annotator: match by term: Orofaciodigital syndrome XV OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26643951 PMID:28492532 More... NCBI chr10:57,282,433...57,331,259
Ensembl chr10:57,281,439...57,331,259 		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: ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVI | ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XVI OMIM
ClinVar		 PMID:25741868 PMID:26595381 PMID:28492532 PMID:39825153 NCBI chr10:54,268,218...54,273,520
Ensembl chr10:54,271,196...54,278,586 		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: INTU-related condition | ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVII | ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XVII OMIM
ClinVar		 PMID:25741868 PMID:27158779 PMID:28492532 PMID:29451301 PMID:34623732 NCBI chr 2:125,528,965...125,613,295
Ensembl chr 2:125,529,208...125,613,295 		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: IFT57-related condition | ClinVar Annotator: match by term: Orofaciodigital syndrome 18 OMIM
ClinVar		 PMID:25741868 PMID:27060890 PMID:28492532 PMID:32860008 NCBI chr11:64,528,349...64,593,545
Ensembl chr11:64,528,349...64,593,545 		JBrowse link
orofaciodigital syndrome XX term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab34 RAB34, member RAS oncogene family ISO ClinVar Annotator: match by term: Orofaciodigital syndrome XX OMIM
ClinVar		 PMID:25741868 PMID:37384395 PMID:37619988 NCBI chr10:63,581,542...63,585,608
Ensembl chr10:63,580,997...63,586,083 		JBrowse link
Orofaciodigital Syndrome XXI term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 ISO ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XXI OMIM
ClinVar		 PMID:11003938 PMID:25679214 PMID:25741868 PMID:31680349 PMID:38158857 NCBI chr  X:34,179,279...34,201,989
Ensembl chr  X:34,179,311...34,201,986 		JBrowse link
OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chst11 carbohydrate sulfotransferase 11 ISO ClinVar Annotator: match by term: Osteochondrodysplasia, brachydactyly, and overlapping malformed digits OMIM
ClinVar		 PMID:25741868 PMID:29514872 NCBI chr 7:22,412,121...22,630,577
Ensembl chr 7:22,415,686...22,630,441 		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-POLYDACTYLY SYNDROME | ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome OMIM
ClinVar		 PMID:17300748 PMID:18178630 PMID:18417549 NCBI chr 4:6,649,824...6,820,525
Ensembl chr 4:6,649,821...6,822,238 		JBrowse link
G Rnf32 ring finger protein 32 ISO ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630 NCBI chr 4:6,822,700...6,884,411
Ensembl chr 4:6,824,970...6,883,976 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:7,687,846...7,697,901 		JBrowse link
Periventricular Nodular Heterotopia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: NEDD4L-related condition | ClinVar Annotator: match by term: Periventricular nodular heterotopia 7 | ClinVar Annotator: match by term: Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay OMIM
ClinVar		 PMID:25741868 PMID:27694961 PMID:28492532 PMID:28515470 PMID:32117442 More... NCBI chr18:60,663,918...60,996,824
Ensembl chr18:60,663,970...60,996,824 		JBrowse link
Pfeiffer syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO
ISS 		ClinVar Annotator: match by term: ACS V | ClinVar Annotator: match by term: Pfeiffer syndrome | ClinVar Annotator: match by term: Pfeiffer syndrome type 1
ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 | ClinVar Annotator: match by term: Pfeiffer syndrome | ClinVar Annotator: match by term: Pfeiffer syndrome type 1
OMIM:101600
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:1456217 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 More... NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO
ISS 		ClinVar Annotator: match by term: ACS V | ClinVar Annotator: match by term: Pfeiffer syndrome
OMIM:101600
CTD Direct Evidence: marker/mechanism
DNA:mutations:CDS:multiple (human)
DNA:SNPs, missense mutation:splice junction, CDS:multiple (human) 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:7581378 PMID:7607643 PMID:7655462 PMID:7668257 PMID:7719329 More... RGD:155782906, RGD:155663661 NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
G Mdm4 MDM4 regulator of p53 ISO ClinVar Annotator: match by term: Pfeiffer syndrome ClinVar PMID:25741868 NCBI chr13:46,922,236...47,068,241
Ensembl chr13:46,958,298...47,026,372 		JBrowse link
popliteal pterygium syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf6 interferon regulatory factor 6 ISO
ISS 		ClinVar Annotator: match by term: CLEFT LIP/PALATE, PARAMEDIAN MUCOUS CYSTS OF THE LOWER LIP, POPLITEAL PTERYGIUM, DIGITAL AND GENITAL ANOMALIES | ClinVar Annotator: match by term: Popliteal pterygium syndrome
OMIM:119500 | OMIM:263650
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:12219090 PMID:12920575 PMID:14757865 PMID:15472655 PMID:15558496 More... NCBI chr13:107,200,876...107,220,083
Ensembl chr13:107,200,731...107,220,049 		JBrowse link
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO
ISS 		ClinVar Annotator: match by term: Popliteal pterygium syndrome
OMIM:119500 | OMIM:263650 		ClinVar
MouseDO		 NCBI chr11:50,591,926...50,614,169
Ensembl chr11:50,591,936...50,614,169 		JBrowse link
postaxial acrofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhodh dihydroorotate dehydrogenase ISO ClinVar Annotator: match by term: DHODH-related condition | ClinVar Annotator: match by term: Miller syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:19915526 PMID:20220176 PMID:21346561 PMID:22692683 PMID:22967083 More... NCBI chr19:54,460,636...54,483,049
Ensembl chr19:54,468,690...54,514,496 		JBrowse link
radioulnar synostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa11 homeobox A11 ISO RGD PMID:11101832 RGD:11353968 NCBI chr 4:82,673,139...82,676,801
Ensembl chr 4:82,673,140...82,676,844 		JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Radioulnar synostosis ClinVar NCBI chr 2:114,837,815...115,393,052
Ensembl chr 2:114,837,840...115,393,038 		JBrowse link
G Smad6 SMAD family member 6 susceptibility ISO ClinVar Annotator: match by term: Radioulnar synostosis | ClinVar Annotator: match by term: Radioulnar synostosis, nonsyndromic, susceptibility to ClinVar
OMIM		 PMID:25741868 PMID:27606499 PMID:28492532 PMID:28808027 PMID:28991257 More... NCBI chr 8:73,345,457...73,414,985
Ensembl chr 8:73,345,460...73,414,149 		JBrowse link
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa11 homeobox A11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: THROMBOCYTOPENIA, CONGENITAL, WITH RADIOULNAR SYNOSTOSIS 		CTD
ClinVar		 PMID:24239177 PMID:25741868 NCBI chr 4:82,673,139...82,676,801
Ensembl chr 4:82,673,140...82,676,844 		JBrowse link
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa11 homeobox A11 ISO ClinVar Annotator: match by term: HOXA11-related condition | ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 OMIM
ClinVar		 PMID:11101832 PMID:25741868 NCBI chr 4:82,673,139...82,676,801
Ensembl chr 4:82,673,140...82,676,844 		JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 ClinVar PMID:25741868 NCBI chr 2:114,837,815...115,393,052
Ensembl chr 2:114,837,840...115,393,038 		JBrowse link
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav1 caveolin 1 ISO ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 ClinVar PMID:25741868 PMID:38177409 NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:46,600,738...46,639,740 		JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: MECOM-related condition | ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:20091385 PMID:25741868 PMID:26581901 More... NCBI chr 2:114,837,815...115,393,052
Ensembl chr 2:114,837,840...115,393,038 		JBrowse link
Robinow Sorauf Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Acrocephalosyndactyly, Robinow-Sorauf type | ClinVar Annotator: match by term: Robinow-Sorauf syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1240778 PMID:10465122 PMID:10749989 PMID:12791045 PMID:16251895 More... NCBI chr 6:56,402,309...56,404,303
Ensembl chr 6:56,398,061...56,404,965 		JBrowse link
Rubinstein Taybi like 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: Rubinstein Taybi like syndrome ClinVar PMID:16412590 PMID:30806792 NCBI chr 3:162,273,828...162,341,742
Ensembl chr 3:162,273,828...162,341,742 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Rubinstein Taybi like syndrome ClinVar PMID:30806792 NCBI chr 8:54,013,547...54,089,219
Ensembl chr 8:54,013,547...54,089,317 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Rubinstein Taybi like syndrome ClinVar PMID:30806792 NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:131,859,696...131,900,072 		JBrowse link
Rubinstein-Taybi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr 7:115,265,816...115,308,931
Ensembl chr 7:115,265,791...115,308,892 		JBrowse link
G Adcy9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 ClinVar PMID:12114483 PMID:15706485 PMID:17052327 PMID:17855048 PMID:18688873 More... NCBI chr10:11,645,373...11,768,462
Ensembl chr10:11,645,282...11,765,792 		JBrowse link
G Adsl adenylosuccinate lyase ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr 7:114,359,440...114,383,618
Ensembl chr 7:114,359,440...114,384,872 		JBrowse link
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More... NCBI chr10:10,346,538...10,356,768
Ensembl chr10:10,853,014...10,863,239 		JBrowse link
G Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr10:11,121,504...11,142,261
Ensembl chr10:11,121,553...11,142,491 		JBrowse link
G Apobec3 apolipoprotein B mRNA editing enzyme catalytic subunit 3 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr 7:113,314,196...113,333,306
Ensembl chr 7:113,314,171...113,333,431 		JBrowse link
G Atf4 activating transcription factor 4 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr 7:113,684,681...113,686,739
Ensembl chr 7:113,684,681...113,686,739 		JBrowse link
G C10h16orf89 similar to human chromosome 16 open reading frame 89 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More... NCBI chr10:10,856,320...10,877,515
Ensembl chr10:10,868,419...10,877,515 		JBrowse link
G C10h16orf90 similar to human chromosome 16 open reading frame 90 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr10:12,125,235...12,138,441
Ensembl chr10:12,125,212...12,128,109 		JBrowse link
G C10h16orf96 similar to human chromosome 16 open reading frame 96 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr10:11,213,789...11,257,180 JBrowse link
G Cacna1i calcium voltage-gated channel subunit alpha1 I ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr 7:113,716,266...113,827,670
Ensembl chr 7:113,716,266...113,827,670 		JBrowse link
G Cbx7 chromobox 7 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr 7:113,341,030...113,358,716
Ensembl chr 7:113,341,030...113,358,346 		JBrowse link
G Cdip1 cell death-inducing p53 target 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr10:11,278,213...11,303,415
Ensembl chr10:11,293,827...11,303,415 		JBrowse link
G Chadl chondroadherin-like ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr 7:115,085,447...115,097,565
Ensembl chr 7:115,085,165...115,097,435 		JBrowse link
G Cluap1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr10:12,094,346...12,159,440
Ensembl chr10:12,094,346...12,131,693 		JBrowse link
G Coro7 coronin 7 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr10:11,386,683...11,447,422
Ensembl chr10:11,391,613...11,447,866 		JBrowse link
G Crebbp CREB binding protein ISO
ISS 		ClinVar Annotator: match by term: BROAD THUMB-HALLUX SYNDROME | ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: CREBBP-related condition | ClinVar Annotator: match by term: RUBINSTEIN SYNDROME | ClinVar Annotator: match by term: RUBINSTEIN-TAYBI SYNDROME 2 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
OMIM:180849 | OMIM:610543 | OMIM:613684
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1
ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:7630403 PMID:8967953 PMID:9536098 PMID:11331617 PMID:12070251 More... RGD:734820 NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,822,620...11,968,266 		JBrowse link
G Dnaaf8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr10:11,107,988...11,121,475
Ensembl chr10:11,107,404...11,121,345 		JBrowse link
G Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr10:11,361,168...11,386,599
Ensembl chr10:11,361,168...11,386,599 		JBrowse link
G Dnajb7 DnaJ heat shock protein family (Hsp40) member B7 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:15706485 PMID:24476420 PMID:28492532 NCBI chr 7:112,932,736...112,934,050
Ensembl chr 7:114,810,853...114,814,405 		JBrowse link
G Dnase1 deoxyribonuclease 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr10:12,005,305...12,030,615
Ensembl chr10:12,005,306...12,010,497 		JBrowse link
G Eef2kmt eukaryotic elongation factor 2 lysine methyltransferase ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More... NCBI chr10:10,336,933...10,349,463
Ensembl chr10:10,843,460...10,853,797 		JBrowse link
G Enthd1 ENTH domain containing 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr 7:111,994,775...112,109,246
Ensembl chr 7:113,875,027...113,989,461 		JBrowse link
G Ep300 E1A binding protein p300 ISO DNA:nonsense mutation, deletions:exons, 5' utr:p.R648X, c.2877_2884del, c.-1200-?_94+?del (human)
ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: CREBBP-related condition | ClinVar Annotator: match by term: RUBINSTEIN-TAYBI SYNDROME 2 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: CREBBP-related condition | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
DNA:nonsense mutation, deletions:multiple (human) 		ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:10700188 PMID:13983033 PMID:15706485 PMID:16199547 More... RGD:1580966, RGD:7296921 NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:114,946,982...115,058,574 		JBrowse link
G Fam83f family with sequence similarity 83, member F ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr 7:114,091,356...114,120,640
Ensembl chr 7:114,091,335...114,120,638 		JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: CREBBP-related condition ClinVar PMID:10633133 PMID:10983956 PMID:11385713 PMID:11438992 PMID:12111646 More... NCBI chr15:35,375,977...35,393,817
Ensembl chr15:35,375,692...35,393,877 		JBrowse link
G Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 ClinVar PMID:12114483 PMID:15706485 PMID:17052327 PMID:17855048 PMID:18688873 More... NCBI chr10:11,457,594...11,484,948
Ensembl chr10:11,457,792...11,477,995 		JBrowse link
G Glyr1 glyoxylate reductase 1 homolog ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More... NCBI chr10:11,038,577...11,074,093
Ensembl chr10:11,038,568...11,074,090 		JBrowse link
G Grap2 GRB2-related adaptor protein 2 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr 7:113,997,356...114,071,073
Ensembl chr 7:113,997,307...114,075,367 		JBrowse link
G Hmox2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr10:11,303,512...11,337,640
Ensembl chr10:11,303,512...11,318,800 		JBrowse link
G L3mbtl2 L3MBTL histone methyl-lysine binding protein 2 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr 7:115,066,427...115,087,625
Ensembl chr 7:115,066,486...115,087,598 		JBrowse link
G Mchr1 melanin-concentrating hormone receptor 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:15706485 PMID:24476420 PMID:28492532 NCBI chr 7:114,641,721...114,644,913
Ensembl chr 7:114,641,580...114,644,919 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr10:12,288,514...12,303,337
Ensembl chr10:12,293,782...12,303,333 		JBrowse link
G Mgat3 beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr 7:113,614,011...113,640,201
Ensembl chr 7:113,598,059...113,643,481 		JBrowse link
G Mgrn1 mahogunin ring finger 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr10:11,142,626...11,194,773
Ensembl chr10:11,145,690...11,194,805 		JBrowse link
G Mief1 mitochondrial elongation factor 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr 7:113,666,918...113,679,550
Ensembl chr 7:113,666,901...113,683,977 		JBrowse link
G Mrtfa myocardin related transcription factor A ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr 7:114,424,481...114,594,594
Ensembl chr 7:114,424,481...114,594,594 		JBrowse link
G Naa60 N(alpha)-acetyltransferase 60, NatF catalytic subunit ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr10:12,129,026...12,149,053
Ensembl chr10:12,131,429...12,139,262 		JBrowse link
G Nagpa N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More... NCBI chr10:10,380,262...10,388,609
Ensembl chr10:10,886,733...10,895,074 		JBrowse link
G Nlrc3 NLR family, CARD domain containing 3 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr10:12,055,809...12,093,449
Ensembl chr10:12,057,738...12,091,393 		JBrowse link
G Nmral1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr10:11,348,080...11,356,621
Ensembl chr10:11,348,213...11,356,620 		JBrowse link
G Nudt16l1 nudix hydrolase 16 like 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr10:11,142,626...11,144,542
Ensembl chr10:11,142,627...11,144,764 		JBrowse link
G Or2c1 olfactory receptor family 2 subfamily C member 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr10:12,189,254...12,190,192
Ensembl chr10:12,189,254...12,190,192 		JBrowse link
G Pam16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 		ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr10:11,449,316...11,457,071
Ensembl chr10:11,449,117...11,460,526 		JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:11479594 PMID:12510040 PMID:15659606 PMID:15834858 PMID:16272150 More... NCBI chr 3:138,936,448...138,974,196
Ensembl chr 3:138,936,452...138,974,194 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:113,420,710...113,438,343 		JBrowse link
G Phf5a PHD finger protein 5A ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr 7:115,258,609...115,265,174
Ensembl chr 7:115,258,609...115,265,174 		JBrowse link
G Ppl periplakin ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More... NCBI chr10:10,957,388...11,003,035
Ensembl chr10:10,957,341...11,003,658 		JBrowse link
G Rangap1 RAN GTPase activating protein 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr 7:115,104,820...115,130,564
Ensembl chr 7:115,104,823...115,130,564 		JBrowse link
G Rbx1 ring-box 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:15706485 PMID:24476420 PMID:28492532 NCBI chr 7:114,870,893...114,881,194
Ensembl chr 7:114,870,972...114,881,191 		JBrowse link
G Rogdi rogdi atypical leucine zipper ISO ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 		ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr10:11,074,288...11,078,907
Ensembl chr10:11,074,262...11,078,906 		JBrowse link
G Rpl3 ribosomal protein L3 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr 7:113,491,943...113,508,115
Ensembl chr 7:113,501,960...113,507,990 		JBrowse link
G Rps19bp1 ribosomal protein S19 binding protein 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr 7:111,809,354...111,812,741
Ensembl chr 7:113,689,636...113,693,023 		JBrowse link
G Sec14l5 SEC14-like lipid binding 5 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More... NCBI chr10:10,901,430...10,942,548
Ensembl chr10:10,903,344...10,942,386 		JBrowse link
G Septin12 septin 12 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr10:11,087,354...11,097,036
Ensembl chr10:11,086,863...11,097,034 		JBrowse link
G Sgsm3 small G protein signaling modulator 3 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr 7:114,394,724...114,424,285
Ensembl chr 7:114,394,813...114,424,489 		JBrowse link
G Slc25a17 solute carrier family 25 member 17 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:15706485 PMID:24476420 PMID:28492532 NCBI chr 7:114,724,533...114,767,163
Ensembl chr 7:114,724,533...114,767,345 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr10:12,032,131...12,055,685
Ensembl chr10:12,033,048...12,055,650 		JBrowse link
G Smim22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr10:11,079,019...11,080,804
Ensembl chr10:11,078,934...11,080,200 		JBrowse link
G Snord43 small nucleolar RNA, C/D box 43 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr 7:111,627,136...111,627,199
Ensembl chr 7:113,507,486...113,507,549 		JBrowse link
G Snord83b small nucleolar RNA, C/D box 83B ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr 7:111,622,885...111,622,978
Ensembl chr 7:113,503,235...113,503,328 		JBrowse link
G Srl sarcalumenin ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 ClinVar PMID:12114483 PMID:15706485 PMID:17052327 PMID:17855048 PMID:18688873 More... NCBI chr10:11,540,365...11,584,506
Ensembl chr10:11,540,443...11,584,504 		JBrowse link
G St13 ST13, Hsp70 interacting protein ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:15706485 PMID:24476420 PMID:28492532 NCBI chr 7:114,769,758...114,805,877
Ensembl chr 7:114,769,759...114,805,941 		JBrowse link
G Syngr1 synaptogyrin 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr 7:113,516,246...113,542,918
Ensembl chr 7:113,516,265...113,542,917 		JBrowse link
G Tab1 TGF-beta activated kinase 1/MAP3K7 binding protein 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr 7:113,556,157...113,587,351
Ensembl chr 7:113,555,819...113,587,351 		JBrowse link
G Tef TEF transcription factor, PAR bZIP family member ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr 7:115,197,180...115,221,930
Ensembl chr 7:115,193,282...115,221,928 		JBrowse link
G Tfap4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 ClinVar PMID:12114483 PMID:15706485 PMID:17052327 PMID:17855048 PMID:18688873 More... NCBI chr10:11,507,242...11,525,794
Ensembl chr10:11,485,565...11,525,794 		JBrowse link
G Tnrc6b trinucleotide repeat containing adaptor 6B ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr 7:114,132,574...114,350,010
Ensembl chr 7:114,132,573...114,342,973 		JBrowse link
G Tob2 transducer of ERBB2, 2 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr 7:115,242,843...115,251,563
Ensembl chr 7:115,239,895...115,258,155 		JBrowse link
G Trap1 TNF receptor-associated protein 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 ClinVar PMID:12114483 PMID:15706485 PMID:17052327 PMID:17855048 PMID:18688873 More... NCBI chr10:11,971,259...12,005,306
Ensembl chr10:11,970,995...12,005,355 		JBrowse link
G Ubald1 UBA-like domain containing 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr10:11,202,197...11,206,962
Ensembl chr10:11,202,155...11,207,787 		JBrowse link
G Ubn1 ubinuclein 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More... NCBI chr10:11,003,036...11,038,466
Ensembl chr10:11,003,036...11,038,466 		JBrowse link
G Vasn vasorin ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr10:11,424,174...11,434,681
Ensembl chr10:11,417,327...11,450,704 		JBrowse link
G Xpnpep3 X-prolyl aminopeptidase 3 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:15706485 PMID:24476420 PMID:28492532 NCBI chr 7:114,806,398...114,858,934
Ensembl chr 7:114,806,357...114,855,125 		JBrowse link
G Zc3h7b zinc finger CCCH-type containing 7B ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr 7:115,142,245...115,190,513
Ensembl chr 7:115,142,420...115,190,513 		JBrowse link
G Zfp174 zinc finger protein 174 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr10:12,169,012...12,182,775
Ensembl chr10:12,174,540...12,182,689 		JBrowse link
G Zfp263 zinc finger protein 263 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr10:12,270,785...12,280,982
Ensembl chr10:12,234,057...12,277,587 		JBrowse link
G Zfp597 zinc finger protein 597 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr10:12,159,533...12,165,207
Ensembl chr10:12,149,225...12,169,367 		JBrowse link
Saethre-Chotzen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: CHOTZEN SYNDROME | ClinVar Annotator: match by term: Chotzen syndrome | ClinVar Annotator: match by term: Saethre-Chotzen syndrome OMIM
ClinVar		 PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Saethre-Chotzen syndrome ClinVar PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 More... NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CHOTZEN SYNDROME | ClinVar Annotator: match by term: Chotzen syndrome | ClinVar Annotator: match by term: Saethre-Chotzen syndrome | ClinVar Annotator: match by term: Saethre-Chotzen syndrome with eyelid anomalies
OMIM:101400 | OMIM:180750 		CTD
ClinVar
MouseDO
OMIM		 PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 PMID:9585583 More... NCBI chr 6:56,402,309...56,404,303
Ensembl chr 6:56,398,061...56,404,965 		JBrowse link
Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND IMPAIRED INTELLECTUAL DEVELOPMENT
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
sclerosteosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp4 LDL receptor related protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:97,885,373...97,939,366
Ensembl chr 3:97,885,400...97,939,370 		JBrowse link
G Sost sclerostin ISO DNA:transition: :69C>T (human)
ClinVar Annotator: match by term: CORTICAL HYPEROSTOSIS WITH SYNDACTYLY
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:25741868 PMID:28492532 PMID:11179006 RGD:68858 NCBI chr10:87,412,722...87,415,766
Ensembl chr10:87,411,721...87,415,766 		JBrowse link
sclerosteosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sost sclerostin ISO
ISS 		ClinVar Annotator: match by term: SOST-related condition | ClinVar Annotator: match by term: Sclerosteosis 1
OMIM:269500 		OMIM
ClinVar
MouseDO		 PMID:11179006 PMID:11181578 PMID:19072561 PMID:20301406 PMID:21221996 More... NCBI chr10:87,412,722...87,415,766
Ensembl chr10:87,411,721...87,415,766 		JBrowse link
sclerosteosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp4 LDL receptor related protein 4 ISO
ISS 		ClinVar Annotator: match by term: Sclerosteosis 2
OMIM:614305 		OMIM
ClinVar
MouseDO		 PMID:7891385 PMID:9536098 PMID:11385236 PMID:17576681 PMID:21471202 More... NCBI chr 3:97,885,373...97,939,366
Ensembl chr 3:97,885,400...97,939,370 		JBrowse link
Shprintzen-Goldberg Craniosynostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,783,382...171,797,709
Ensembl chr 5:171,783,382...171,798,191 		JBrowse link
G Actrt2 actin-related protein T2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,518,470...170,519,870
Ensembl chr 5:170,518,165...170,521,164 		JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,031,528...172,064,429
Ensembl chr 5:172,031,528...172,064,539 		JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,680,597...171,682,854
Ensembl chr 5:171,680,597...171,683,431 		JBrowse link
G Arhgef16 Rho guanine nucleotide exchange factor 16 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,126,573...170,148,624
Ensembl chr 5:170,126,575...170,148,624 		JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,632,545...171,652,725
Ensembl chr 5:171,632,547...171,652,725 		JBrowse link
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,866,428...171,868,564
Ensembl chr 5:171,864,094...171,874,789 		JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,833,854...171,838,229
Ensembl chr 5:171,833,854...171,838,800 		JBrowse link
G C5h1orf159 similar to human chromosome 1 open reading frame 159 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:171,983,700...172,001,373
Ensembl chr 5:171,983,936...172,001,373 		JBrowse link
G Ccdc27 coiled-coil domain containing 27 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:169,867,706...169,881,820
Ensembl chr 5:169,867,709...169,881,888 		JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,698,951...171,711,037
Ensembl chr 5:171,699,689...171,711,231 		JBrowse link
G Cdk11b cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,495,042...171,521,143
Ensembl chr 5:171,495,776...171,521,145 		JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:169,817,383...169,849,681
Ensembl chr 5:169,817,182...169,852,695 		JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,252,907...171,328,351
Ensembl chr 5:171,262,113...171,328,349 		JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,757,181...171,761,271
Ensembl chr 5:171,757,181...171,761,266 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,738,911...171,750,967
Ensembl chr 5:171,739,133...171,750,966 		JBrowse link
G Faap20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,083,328...171,097,599
Ensembl chr 5:171,087,847...171,097,599 		JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,581,960...171,584,519
Ensembl chr 5:171,580,033...171,595,399 		JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,240,813...171,252,709
Ensembl chr 5:171,240,789...171,253,094 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,357,778...171,424,489
Ensembl chr 5:171,357,797...171,424,488 		JBrowse link
G Hes5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,804,511...170,807,988
Ensembl chr 5:170,803,940...170,806,021 		JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,761,370...171,779,883
Ensembl chr 5:171,761,371...171,779,883 		JBrowse link
G Kifbp kinesin family binding protein ISO ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome ClinVar PMID:15883926 PMID:18414213 PMID:23427148 PMID:24072599 PMID:24901346 More... NCBI chr20:31,055,625...31,075,232
Ensembl chr20:31,055,626...31,075,201 		JBrowse link
G Lrrc47 leucine rich repeat containing 47 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:169,852,926...169,862,598
Ensembl chr 5:169,852,897...169,862,598 		JBrowse link
G Megf6 multiple EGF-like-domains 6 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,020,699...170,121,557
Ensembl chr 5:170,020,778...170,121,554 		JBrowse link
G Mib2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,526,037...171,542,479
Ensembl chr 5:171,526,037...171,541,910 		JBrowse link
G Mir200a microRNA 200a ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:171,930,717...171,930,805 JBrowse link
G Mir200b microRNA 200b ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:171,931,495...171,931,589 JBrowse link
G Mir429 microRNA 429 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:171,929,682...171,929,766 JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,713,602...170,744,058
Ensembl chr 5:170,713,627...170,744,058 		JBrowse link
G Mmp23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,521,905...171,525,007
Ensembl chr 5:171,520,494...171,524,695 		JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,928,086...170,987,219
Ensembl chr 5:170,929,321...170,987,218 		JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,690,664...171,695,728
Ensembl chr 5:171,691,198...171,695,728 		JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,731,153...171,735,879
Ensembl chr 5:171,731,353...171,735,879 		JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,427,973...171,458,586
Ensembl chr 5:171,428,000...171,458,579 		JBrowse link
G Nek9 NIMA-related kinase 9 ISO ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome ClinVar PMID:25741868 NCBI chr 6:110,675,107...110,715,586
Ensembl chr 6:110,675,107...110,715,586 		JBrowse link
G Pank4 pantothenate kinase 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,807,744...170,824,478
Ensembl chr 5:170,807,745...170,824,477 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,910,136...170,915,302
Ensembl chr 5:170,910,157...170,916,685 		JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,826,543...170,885,012
Ensembl chr 5:170,826,543...170,885,152 		JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,162,275...170,486,371
Ensembl chr 5:170,162,275...170,485,804 		JBrowse link
G Prkcz protein kinase C, zeta ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,101,774...171,212,694
Ensembl chr 5:171,101,774...171,212,674 		JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,744,953...170,747,556
Ensembl chr 5:170,744,953...170,747,556 		JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,773,284...171,782,893
Ensembl chr 5:171,773,331...171,783,339 		JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,916,643...170,929,073
Ensembl chr 5:170,916,905...170,928,980 		JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,005,566...172,008,456
Ensembl chr 5:172,005,566...172,008,458 		JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,868,591...171,885,827
Ensembl chr 5:171,868,563...171,888,884 		JBrowse link
G Ski Ski proto-oncogene ISO ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:7977351 PMID:8449506 PMID:8981946 PMID:9536098 PMID:15979919 More... NCBI chr 5:170,995,851...171,064,957
Ensembl chr 5:170,995,851...171,064,957 		JBrowse link
G Slc35e2b solute carrier family 35, member E2B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,465,222...171,493,317
Ensembl chr 5:171,475,386...171,493,315 		JBrowse link
G Smim1 small integral membrane protein 1 (Vel blood group) ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:169,861,751...169,867,070
Ensembl chr 5:169,864,251...169,866,942 		JBrowse link
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,595,919...171,625,675
Ensembl chr 5:171,595,851...171,625,268 		JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,750,937...171,754,993
Ensembl chr 5:171,750,937...171,754,993 		JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,625,830...171,653,836
Ensembl chr 5:171,626,275...171,633,044 		JBrowse link
G Tmem278 transmembrane protein 278 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,673,319...171,676,143
Ensembl chr 5:171,673,319...171,676,143 		JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,330,948...171,332,704
Ensembl chr 5:171,330,966...171,332,704 		JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,768,413...170,776,749
Ensembl chr 5:170,768,416...170,776,046 		JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:171,901,734...171,904,578
Ensembl chr 5:171,901,717...171,904,576 		JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,889,134...171,891,824
Ensembl chr 5:171,889,117...171,892,616 		JBrowse link
G Tp73 tumor protein p73 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:169,903,801...169,988,075
Ensembl chr 5:169,903,801...169,963,552 		JBrowse link
G Tprg1l tumor protein p63 regulated 1-like ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,004,577...170,007,784
Ensembl chr 5:170,004,577...170,007,983 		JBrowse link
G Ttc34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,693,410...170,711,215
Ensembl chr 5:170,693,402...170,710,368 		JBrowse link
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:171,912,371...171,937,733
Ensembl chr 5:171,912,376...171,926,337 		JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2, J2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,815,607...171,830,037
Ensembl chr 5:171,815,623...171,830,034 		JBrowse link
G Vwa1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,659,694...171,664,880
Ensembl chr 5:171,659,698...171,664,880 		JBrowse link
G Wrap73 WD repeat containing, antisense to TP73 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:169,988,538...170,004,071
Ensembl chr 5:169,988,553...170,004,069 		JBrowse link
spondylocarpotarsal synostosis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin B ISO
ISS 		ClinVar Annotator: match by term: Scoliosis, congenital with unilateral unsegmented bar | ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome | ClinVar Annotator: match by term: VERTEBRAL FUSION WITH CARPAL COALITION
OMIM:272460
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:14991055 PMID:16752402 PMID:16801345 PMID:17576681 More... RGD:12791028 NCBI chr15:19,392,212...19,525,278
Ensembl chr15:19,392,216...19,525,209 		JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Scoliosis, congenital with unilateral unsegmented bar | ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29805041 More... NCBI chr10:52,269,185...52,293,000
Ensembl chr10:52,269,185...52,293,000 		JBrowse link
spondylocostal dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dll3 delta like canonical Notch ligand 3 ISS
ISO 		OMIM:122600 | OMIM:277300 | OMIM:608681 | OMIM:609813 | OMIM:613686
ClinVar Annotator: match by term: Spondylocostal dysostosis 		MouseDO
ClinVar		 NCBI chr 1:92,689,577...92,698,125
Ensembl chr 1:92,689,577...92,697,406 		JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISS OMIM:122600 | OMIM:277300 | OMIM:608681 | OMIM:609813 | OMIM:613686 MouseDO NCBI chr10:54,322,971...54,327,776
Ensembl chr10:54,322,971...54,327,776 		JBrowse link
G Mesp2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis ClinVar PMID:25741868 NCBI chr 1:143,165,914...143,168,520
Ensembl chr 1:143,165,849...143,168,511 		JBrowse link
G Ripply2 ripply transcriptional repressor 2 ISS OMIM:122600 | OMIM:277300 | OMIM:608681 | OMIM:609813 | OMIM:613686 MouseDO NCBI chr 8:96,854,393...96,858,963
Ensembl chr 8:96,854,508...96,858,963 		JBrowse link
spondylocostal dysostosis 1 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 term: DLL3-related disorder | ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive OMIM
ClinVar		 PMID:2805381 PMID:10742114 PMID:12746394 PMID:12791036 PMID:15200511 More... NCBI chr 1:92,689,577...92,698,125
Ensembl chr 1:92,689,577...92,697,406 		JBrowse link
G Mesp2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive | ClinVar Annotator: match by term: Spondylothoracic Dysostosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:143,165,914...143,168,520
Ensembl chr 1:143,165,849...143,168,511 		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 PMID:28492532 NCBI chr 1:92,779,449...92,792,610
Ensembl chr 1:92,779,449...92,792,610 		JBrowse link
G Ripply2 ripply transcriptional repressor 2 ISO ClinVar Annotator: match by term: Spondylothoracic Dysostosis ClinVar PMID:25343988 PMID:28492532 NCBI chr 8:96,854,393...96,858,963
Ensembl chr 8:96,854,508...96,858,963 		JBrowse link
spondylocostal dysostosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive ClinVar PMID:18775957 NCBI chr10:54,322,971...54,327,776
Ensembl chr10:54,322,971...54,327,776 		JBrowse link
G Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive ClinVar PMID:16385447 NCBI chr12:19,144,474...19,152,951
Ensembl chr12:19,124,662...19,152,918 		JBrowse link
G Mesp2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: MESP2-related condition | ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive OMIM
ClinVar		 PMID:9242490 PMID:15122512 PMID:18485326 PMID:24033266 PMID:25741868 More... NCBI chr 1:143,165,914...143,168,520
Ensembl chr 1:143,165,849...143,168,511 		JBrowse link
G Ripply2 ripply transcriptional repressor 2 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive ClinVar PMID:25343988 PMID:25741868 PMID:28492532 NCBI chr 8:96,854,393...96,858,963
Ensembl chr 8:96,854,508...96,858,963 		JBrowse link
G Tbx6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive ClinVar PMID:20503311 PMID:23335591 NCBI chr 1:190,818,397...190,823,824
Ensembl chr 1:190,819,229...190,823,138 		JBrowse link
spondylocostal dysostosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brat1 BRCA1-associated ATM activator 1 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 3, autosomal recessive ClinVar PMID:28492532 NCBI chr12:19,043,004...19,065,686
Ensembl chr12:19,042,591...19,055,369 		JBrowse link
G Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: LFNG-related condition | ClinVar Annotator: match by term: Spondylocostal dysostosis 3, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16385447 PMID:17576681 PMID:25741868 More... NCBI chr12:19,144,474...19,152,951
Ensembl chr12:19,124,662...19,152,918 		JBrowse link
spondylocostal dysostosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: HES7-related condition | ClinVar Annotator: match by term: Spondylocostal dysostosis 4, autosomal recessive OMIM
ClinVar		 PMID:18775957 PMID:20087400 PMID:23897666 PMID:25741868 PMID:28492532 NCBI chr10:54,322,971...54,327,776
Ensembl chr10:54,322,971...54,327,776 		JBrowse link
spondylocostal dysostosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:190,832,820...190,838,021
Ensembl chr 1:190,832,820...190,838,211 		JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES ClinVar PMID:25741868 NCBI chr 6:78,674,945...78,676,635
Ensembl chr 6:78,673,353...78,680,406 		JBrowse link
G Asphd1 aspartate beta-hydroxylase domain containing 1 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:190,983,506...190,987,440
Ensembl chr 1:190,983,506...190,987,440 		JBrowse link
G C1h16orf54 similar to human chromosome 16 open reading frame 54 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:191,132,972...191,135,653
Ensembl chr 1:191,132,030...191,135,910 		JBrowse link
G C1h16orf92 similar to human chromosome 16 open reading frame 92 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:190,870,546...190,871,557 JBrowse link
G Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:191,013,632...191,017,943
Ensembl chr 1:191,013,463...191,017,971 		JBrowse link
G Cdiptos CDIP transferase, opposite strand ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES ClinVar PMID:25741868 NCBI chr 1:181,579,385...181,583,017
Ensembl chr 1:191,009,919...191,013,275 		JBrowse link
G Coro1a coronin 1A ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:190,726,129...190,731,133
Ensembl chr 1:190,726,130...190,731,102 		JBrowse link
G Doc2a double C2 domain alpha ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:190,887,306...190,893,057
Ensembl chr 1:190,888,214...190,893,384 		JBrowse link
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:190,804,053...190,813,609
Ensembl chr 1:190,803,993...190,813,606 		JBrowse link
G Hirip3 HIRA interacting protein 3 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:190,903,065...190,905,610
Ensembl chr 1:190,902,593...190,905,607 		JBrowse link
G Ino80e INO80 complex subunit E ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:190,891,315...190,902,902
Ensembl chr 1:190,891,936...190,902,541 		JBrowse link
G Kctd13 potassium channel tetramerization domain containing 13 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:190,965,073...190,983,381
Ensembl chr 1:190,965,075...190,985,419 		JBrowse link
G Kif22 kinesin family member 22 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:191,065,875...191,080,955
Ensembl chr 1:191,065,875...191,080,878 		JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:190,797,189...190,803,411
Ensembl chr 1:190,797,185...190,803,411 		JBrowse link
G Maz MYC associated zinc finger protein ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:191,060,271...191,065,722
Ensembl chr 1:191,060,280...191,065,339 		JBrowse link
G Mesp2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Spondylothoracic Dysostosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:143,165,914...143,168,520
Ensembl chr 1:143,165,849...143,168,511 		JBrowse link
G Mvp major vault protein ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:191,025,259...191,052,866
Ensembl chr 1:191,025,268...191,052,873 		JBrowse link
G Pagr1 Paxip1-associated glutamate-rich protein 1 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:191,053,228...191,055,554 JBrowse link
G Ppp4c protein phosphatase 4, catalytic subunit ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:190,823,447...190,830,247
Ensembl chr 1:190,823,486...190,830,168 		JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:191,054,962...191,059,632
Ensembl chr 1:191,053,050...191,059,414 		JBrowse link
G Qprt quinolinate phosphoribosyltransferase ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:191,148,715...191,164,006
Ensembl chr 1:191,148,713...191,194,162 		JBrowse link
G Ripply2 ripply transcriptional repressor 2 ISO ClinVar Annotator: match by term: Spondylothoracic Dysostosis ClinVar PMID:25343988 PMID:28492532 NCBI chr 8:96,854,393...96,858,963
Ensembl chr 8:96,854,508...96,858,963 		JBrowse link
G Sez6l2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:190,987,647...191,007,990
Ensembl chr 1:190,988,055...191,007,973 		JBrowse link
G Spn sialophorin ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:191,177,449...191,190,115
Ensembl chr 1:191,178,096...191,187,852 		JBrowse link
G Taok2 TAO kinase 2 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:190,906,236...190,925,359
Ensembl chr 1:190,906,239...190,925,140 		JBrowse link
G Tbx6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 5 | ClinVar Annotator: match by term: TBX6-related condition OMIM
ClinVar		 PMID:20503311 PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 More... NCBI chr 1:190,818,397...190,823,824
Ensembl chr 1:190,819,229...190,823,138 		JBrowse link
G Tlcd3b TLC domain containing 3B ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:190,851,582...190,870,278
Ensembl chr 1:190,835,208...190,870,277 		JBrowse link
G Tmem219 transmembrane protein 219 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:190,926,722...190,965,044
Ensembl chr 1:190,926,722...190,958,912 		JBrowse link
G Ypel3 yippee-like 3 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:190,814,920...190,818,248
Ensembl chr 1:190,814,512...190,818,251 		JBrowse link
G Zg16 zymogen granule protein 16 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:191,088,248...191,090,605
Ensembl chr 1:191,088,248...191,090,605 		JBrowse link
spondylocostal dysostosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripply2 ripply transcriptional repressor 2 ISO ClinVar Annotator: match by term: RIPPLY2-related condition | ClinVar Annotator: match by term: Spondylocostal dysostosis 6, autosomal recessive OMIM
ClinVar		 PMID:25343988 PMID:25741868 PMID:28492532 NCBI chr 8:96,854,393...96,858,963
Ensembl chr 8:96,854,508...96,858,963 		JBrowse link
Spondylocostal Dysostosis, Autosomal Recessive 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 CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:92,689,577...92,698,125
Ensembl chr 1:92,689,577...92,697,406 		JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:54,322,971...54,327,776
Ensembl chr10:54,322,971...54,327,776 		JBrowse link
G Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:19,144,474...19,152,951
Ensembl chr12:19,124,662...19,152,918 		JBrowse link
G Mesp2 mesoderm posterior bHLH transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:143,165,914...143,168,520
Ensembl chr 1:143,165,849...143,168,511 		JBrowse link
G Ripply2 ripply transcriptional repressor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:96,854,393...96,858,963
Ensembl chr 8:96,854,508...96,858,963 		JBrowse link
Stapes Ankylosis with Broad Thumbs and Toes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankfn1 ankyrin-repeat and fibronectin type III domain containing 1 ISO ClinVar Annotator: match by term: Stapes ankylosis with broad thumbs and toes ClinVar NCBI chr10:74,711,284...75,099,954 JBrowse link
G Nog noggin ISO ClinVar Annotator: match by term: Stapes ankylosis with broad thumbs and toes OMIM
ClinVar		 PMID:9851982 PMID:10069712 PMID:10080184 PMID:11160400 PMID:11545688 More... NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,625,875...74,628,103 		JBrowse link
STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS 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: Structural brain anomalies with impaired intellectual development and craniosynostosis OMIM
ClinVar		 PMID:25741868 PMID:26340333 PMID:30391508 NCBI chr 8:100,785,282...100,797,716
Ensembl chr 8:100,787,789...100,792,427 		JBrowse link
syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aggf1 angiogenic factor with G patch and FHA domains 1 ISO ClinVar Annotator: match by term: Non-syndromic syndactyly ClinVar PMID:25741868 NCBI chr 2:28,354,073...28,380,794
Ensembl chr 2:28,354,073...28,380,759 		JBrowse link
G Cdh20 cadherin 20 ISO ClinVar Annotator: match by term: Non-syndromic syndactyly ClinVar PMID:25741868 NCBI chr13:21,252,272...21,583,526
Ensembl chr13:21,515,123...21,584,349 		JBrowse link
G Cibar1 CBY1 interacting BAR domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30395363 NCBI chr 5:30,411,325...30,429,770
Ensembl chr 5:30,410,511...30,429,893 		JBrowse link
G Csnk2b casein kinase 2 beta ISO ClinVar Annotator: match by term: Syndactyly ClinVar PMID:25741868 PMID:28492532 PMID:33644862 PMID:34041744 PMID:35571680 NCBI chr20:3,704,833...3,709,999
Ensembl chr20:3,704,904...3,710,525 		JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Syndactyly ClinVar PMID:15717203 PMID:17041936 PMID:18485326 PMID:25741868 PMID:28492532 More... NCBI chr 1:92,689,577...92,698,125
Ensembl chr 1:92,689,577...92,697,406 		JBrowse link
G Fbn2 fibrillin 2 ISO RGD PMID:11285249 RGD:1300320 NCBI chr18:53,696,197...53,901,992
Ensembl chr18:53,697,708...53,902,191 		JBrowse link
G Fzd4 frizzled class receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chr 1:152,692,507...152,701,372
Ensembl chr 1:152,692,507...152,701,372 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO DNA:insertion:cds: RGD PMID:18984342 RGD:12738203 NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:164,914,401...164,918,593 		JBrowse link
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Syndactyly ClinVar PMID:25741868 PMID:28492532 NCBI chr20:36,302,490...36,315,010
Ensembl chr20:36,302,352...36,319,689 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO DNA:missense mutation:exon:p.H601R (c.1802A>G) (human)
ClinVar Annotator: match by term: polysyndactyly 		ClinVar
RGD		 PMID:25267529 RGD:12738225 NCBI chr17:54,134,064...54,405,198
Ensembl chr17:54,134,064...54,405,198 		JBrowse link
G Hoxd13 homeo box D13 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:79,978,076...79,981,393 		JBrowse link
G Iqce IQ motif containing E ISO ClinVar Annotator: match by term: Syndactyly ClinVar PMID:25741868 PMID:28488682 PMID:31549751 PMID:35599849 NCBI chr12:19,057,060...19,096,626
Ensembl chr12:19,056,307...19,096,624 		JBrowse link
G Irf6 interferon regulatory factor 6 ISO popliteal pterygium syndrome, OMIM:119500 RGD PMID:12219090 RGD:1600214 NCBI chr13:107,200,876...107,220,083
Ensembl chr13:107,200,731...107,220,049 		JBrowse link
G Jag2 jagged canonical Notch ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9531541 NCBI chr 6:137,804,133...137,826,738
Ensembl chr 6:137,804,133...137,826,738 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: Non-syndromic syndactyly ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:74,597,148...74,754,535
Ensembl chr 3:74,597,148...74,754,535 		JBrowse link
G Lrp4 LDL receptor related protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16207730 NCBI chr 3:97,885,373...97,939,366
Ensembl chr 3:97,885,400...97,939,370 		JBrowse link
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr18:60,663,918...60,996,824
Ensembl chr18:60,663,970...60,996,824 		JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Syndactyly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:92,779,449...92,792,610
Ensembl chr 1:92,779,449...92,792,610 		JBrowse link
G Rab19 RAB19, member RAS oncogene family ISO ClinVar Annotator: match by term: Non-syndromic syndactyly ClinVar PMID:25741868 NCBI chr 4:69,123,962...69,133,691
Ensembl chr 4:69,123,924...69,134,383 		JBrowse link
syndactyly type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ihh Indian hedgehog signaling molecule ISO DNA:duplications RGD PMID:21167467 RGD:12910956 NCBI chr 9:83,952,986...83,959,203
Ensembl chr 9:83,952,986...83,959,203 		JBrowse link
G Nhej1 nonhomologous end-joining factor 1 ISO ClinVar Annotator: match by term: Syndactyly type 1 ClinVar NCBI chr 9:83,974,995...84,071,161
Ensembl chr 9:83,974,997...84,070,594 		JBrowse link
syndactyly type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Syndactyly type 3 		OMIM
CTD
ClinVar		 PMID:2157843 PMID:11470490 PMID:14729836 PMID:15192806 PMID:18079109 More... NCBI chr20:36,302,490...36,315,010
Ensembl chr20:36,302,352...36,319,689 		JBrowse link
syndactyly type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb development membrane protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Syndactyly type 4 		OMIM
CTD
ClinVar		 PMID:1849351 PMID:18417549 PMID:19847792 NCBI chr 4:6,649,824...6,820,525
Ensembl chr 4:6,649,821...6,822,238 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:7,687,846...7,697,901 		JBrowse link
syndactyly type 5 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: Syndactyly type 5 ClinVar NCBI chr20:36,302,490...36,315,010
Ensembl chr20:36,302,352...36,319,689 		JBrowse link
G Hoxd13 homeo box D13 ISO ClinVar Annotator: match by term: Syndactyly type 5 | ClinVar Annotator: match by term: Syndactyly, type V
DNA:missense mutation:exon:p.Q317R (c.950A>G)
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD
RGD		 PMID:215242 PMID:9207113 PMID:15333588 PMID:16222680 PMID:17236141 More... RGD:12738470 NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:79,978,076...79,981,393 		JBrowse link
syndactyly type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf16 fibroblast growth factor 16 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Syndactyly type 8 		OMIM
CTD
ClinVar		 PMID:23709756 PMID:24878828 NCBI chr  X:74,882,863...74,893,598
Ensembl chr  X:74,882,995...74,944,246 		JBrowse link
syndactyly-telecanthus-anogenital and renal malformations syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Syndactyly-telecanthus-anogenital and renal malformations syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8818947 PMID:18297069 PMID:25741868 PMID:36474027 NCBI chr10:64,144,560...64,145,723
Ensembl chr10:64,144,555...64,145,911 		JBrowse link
G Star steroidogenic acute regulatory protein ISO ClinVar Annotator: match by term: Syndactyly-telecanthus-anogenital and renal malformations syndrome ClinVar PMID:8948562 PMID:16968793 PMID:18729825 PMID:21647419 PMID:23920000 More... NCBI chr16:72,969,824...72,974,447
Ensembl chr16:72,961,518...72,974,447 		JBrowse link
synpolydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxd13 homeo box D13 ISS
ISO 		OMIM:186000 | OMIM:608180 | OMIM:610234
ClinVar Annotator: match by term: Synpolydactyly 		MouseDO
ClinVar		 PMID:22233338 PMID:25741868 NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:79,978,076...79,981,393 		JBrowse link
Synpolydactyly 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chst11 carbohydrate sulfotransferase 11 ISO ClinVar Annotator: match by term: Synpolydactyly type 1 ClinVar PMID:29514872 NCBI chr 7:22,412,121...22,630,577
Ensembl chr 7:22,415,686...22,630,441 		JBrowse link
G Evx2 even-skipped homeobox 2 ISO ClinVar Annotator: match by term: Synpolydactyly type 1 ClinVar PMID:25741868 NCBI chr 3:79,965,630...79,969,700
Ensembl chr 3:79,965,630...79,969,305 		JBrowse link
G Hoxd13 homeo box D13 severity ISO DNA:duplication:CDS
ClinVar Annotator: match by term: Synpolydactyly type 1
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation:exon:p.R186X (c.556C¿¿¿>¿¿¿T) (human)
DNA:insertion:exon
DNA:missense mutation:exon:p.R298Q (c.893G>A) (human)
DNA:missense mutation:exon:p.I314L (940A>C) (human)
DNA:splice-site mutation:intron:c.781+1G>A (human)
DNA:nonsense mutation:exon:p.Q248X (c.742C>T) (human)
DNA:missense mutation:exon:p.G220A (c.659G>C) (human) 		ClinVar
OMIM
CTD
RGD		 PMID:215242 PMID:7666393 PMID:8620844 PMID:8817328 PMID:9207113 More... RGD:1599534, RGD:12743595, RGD:12743592, RGD:11098998, RGD:12738399, RGD:11098055, RGD:11098032, RGD:12738377, RGD:12738375, RGD:11098288 NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:79,978,076...79,981,393 		JBrowse link
Synpolydactyly 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbln1 fibulin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FBLN1-related condition | ClinVar Annotator: match by term: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES 		OMIM
CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 7:118,190,347...118,269,965
Ensembl chr 7:118,190,478...118,269,965 		JBrowse link
tarsal-carpal coalition syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nog noggin ISO ClinVar Annotator: match by term: Tarsal-carpal coalition syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:c.682T>G (p.C228G)(human) 		OMIM
ClinVar
CTD
RGD		 PMID:4019538 PMID:7557985 PMID:10080184 PMID:11545688 PMID:16576087 More... RGD:12801450 NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,625,875...74,628,103 		JBrowse link
temtamy preaxial brachydactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chsy1 chondroitin sulfate synthase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CHSY1-related condition | ClinVar Annotator: match by term: Temtamy preaxial brachydactyly syndrome 		OMIM
CTD
ClinVar		 PMID:9823490 PMID:19952732 PMID:21129727 PMID:21129728 PMID:25741868 More... NCBI chr 1:129,100,088...129,161,167
Ensembl chr 1:129,100,041...129,161,081 		JBrowse link
Timothy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO
ISS 		DNA:missense mutations:exon:p.G406R, p.G402S (human)
ClinVar Annotator: match by term: CACNA1C-related disorder | ClinVar Annotator: match by term: Timothy syndrome | ClinVar Annotator: match by term: Timothy syndrome type 1
ClinVar Annotator: match by term: CACNA1C-related disorder | ClinVar Annotator: match by term: Long QT syndrome with syndactyly | ClinVar Annotator: match by term: Timothy syndrome | ClinVar Annotator: match by term: Timothy syndrome type 1
OMIM:601005
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9536098 PMID:10343407 PMID:12166659 PMID:15454078 PMID:15863612 More... RGD:1580173 NCBI chr 4:153,431,169...154,051,932
Ensembl chr 4:153,436,427...154,051,762 		JBrowse link
Treacher Collins syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1b RNA polymerase I subunit B ISO ClinVar Annotator: match by term: Treacher Collins syndrome ClinVar PMID:31649276 NCBI chr 3:136,787,130...136,811,608
Ensembl chr 3:136,787,107...136,811,607 		JBrowse link
G Polr1d RNA polymerase I and III subunit D ISO ClinVar Annotator: match by term: Treacher Collins syndrome ClinVar PMID:24603435 NCBI chr12:13,084,505...13,118,069
Ensembl chr12:13,084,512...13,095,627 		JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 ISO
ISS 		ClinVar Annotator: match by term: Treacher Collins Syndrome, Dominant | ClinVar Annotator: match by term: Treacher Collins syndrome
OMIM:154500 | OMIM:248390 | OMIM:613717 		ClinVar
MouseDO
RGD		 PMID:8894686 PMID:22317976 PMID:25741868 PMID:28492532 PMID:9096354 RGD:1599379 NCBI chr18:56,537,437...56,570,727
Ensembl chr18:56,537,437...56,570,727 		JBrowse link
Treacher Collins syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcof1 treacle ribosome biogenesis factor 1 ISO ClinVar Annotator: match by term: TCOF1-related condition | ClinVar Annotator: match by term: Treacher Collins syndrome 1 OMIM
ClinVar		 PMID:8563749 PMID:8894686 PMID:9042910 PMID:9096354 PMID:9536098 More... NCBI chr18:56,537,437...56,570,727
Ensembl chr18:56,537,437...56,570,727 		JBrowse link
Treacher Collins syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1d RNA polymerase I and III subunit D ISO ClinVar Annotator: match by term: POLR1D-related condition | ClinVar Annotator: match by term: Treacher Collins syndrome 2 OMIM
ClinVar		 PMID:21131976 PMID:24603435 PMID:25741868 PMID:28492532 PMID:34397304 NCBI chr12:13,084,505...13,118,069
Ensembl chr12:13,084,512...13,095,627 		JBrowse link
Treacher Collins syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Treacher Collins Syndrome, Recessive | ClinVar Annotator: match by term: Treacher Collins syndrome 3
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:610060 PMID:9536098 PMID:11013442 PMID:17576681 PMID:21131976 More... NCBI chr 9:22,233,318...22,237,430
Ensembl chr 9:22,233,305...22,237,428 		JBrowse link
G Slc35b2 solute carrier family 35 member B2 ISO ClinVar Annotator: match by term: Treacher Collins syndrome 3 ClinVar PMID:25741868 NCBI chr 9:22,936,031...22,940,114
Ensembl chr 9:22,935,887...22,939,793 		JBrowse link
Treacher Collins syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1b RNA polymerase I subunit B ISO ClinVar Annotator: match by term: POLR1B-related condition | ClinVar Annotator: match by term: Treacher Collins syndrome 4 OMIM
ClinVar		 PMID:25741868 PMID:31649276 NCBI chr 3:136,787,130...136,811,608
Ensembl chr 3:136,787,107...136,811,607 		JBrowse link
Trigonocephaly 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Trigonocephaly 1 OMIM
ClinVar		 PMID:1456217 PMID:7795583 PMID:7874169 PMID:9536098 PMID:10629055 More... NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855 		JBrowse link
Trigonocephaly 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frem1 Fras1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: Trigonocephaly 2 OMIM
ClinVar		 PMID:9536098 PMID:11332973 PMID:16199547 PMID:17576681 PMID:19732862 More... NCBI chr 5:102,367,201...102,515,464
Ensembl chr 5:102,367,201...102,515,404 		JBrowse link
Ulnar/Fibular Ray Defect and Brachydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: Ulnar/fibular ray defect and brachydactyly ClinVar PMID:28492532 NCBI chr15:42,435,803...42,447,165
Ensembl chr15:42,435,803...42,447,165 		JBrowse link
Weyers acrofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Evc EvC ciliary complex subunit 1 ISO ClinVar Annotator: match by term: Curry-Hall syndrome | ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:7628126 PMID:7635486 PMID:9536098 PMID:10700184 PMID:16199547 More... NCBI chr14:77,680,901...77,722,608
Ensembl chr14:77,680,943...77,723,100 		JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Curry-Hall syndrome | ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:12571802 PMID:16404586 PMID:17024374 PMID:17576681 More... NCBI chr14:77,591,581...77,679,286
Ensembl chr14:77,592,560...77,679,262 		JBrowse link
Winter Shortland Temple Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smo smoothened, frizzled class receptor ISO ClinVar Annotator: match by term: Curry-Jones syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3144990 PMID:7606318 PMID:16531740 PMID:18798318 PMID:24728327 More... NCBI chr 4:59,311,084...59,341,280
Ensembl chr 4:59,311,041...59,341,281 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      bone development disease 2345
        dysostosis 634
          Achard syndrome 0
          Agenesis of Cervical Vertebrae 0
          Camptodactyly Joint Contractures and Facial Skeletal Dysplasia 0
          Cenani-Lenz syndactyly syndrome 1
          Cousin Syndrome 1
          DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE 1
          Diaphanospondylodysostosis 1
          Fronto-Facio-Nasal Dysplasia 0
          Humerofemoral Hypoplasia with Radiotibial Ray Deficiency 1
          Isolated Thoracic Dysostosis 0
          Klippel-Feil syndrome + 52
          Laurin-Sandrow syndrome 1
          Mandibulofacial Dysostosis Syndrome, Bauru Type 0
          Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 0
          Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 0
          Radio-Renal Syndrome 0
          Rubinstein-Taybi syndrome + 81
          Spondylospinal Thoracic Dysostosis 0
          Thoracopelvic Dysostosis 0
          acrodysostosis + 6
          acrofacial dysostosis + 6
          acrofrontofacionasal dysostosis 0
          brachydactyly + 33
          contractures, pterygia, and spondylocarpotarsal fusion syndrome + 10
          focal dermal hypoplasia 3
          frontonasal dysplasia 1 1
          orofaciodigital syndrome + 24
          spondylocostal dysostosis + 37
          synostosis + 404
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      musculoskeletal system disease 8492
        connective tissue disease 5948
          bone disease 4398
            bone development disease 2345
              dysostosis 634
                Achard syndrome 0
                Agenesis of Cervical Vertebrae 0
                Camptodactyly Joint Contractures and Facial Skeletal Dysplasia 0
                Cenani-Lenz syndactyly syndrome 1
                Cousin Syndrome 1
                DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE 1
                Diaphanospondylodysostosis 1
                Fronto-Facio-Nasal Dysplasia 0
                Humerofemoral Hypoplasia with Radiotibial Ray Deficiency 1
                Isolated Thoracic Dysostosis 0
                Klippel-Feil syndrome + 52
                Laurin-Sandrow syndrome 1
                Mandibulofacial Dysostosis Syndrome, Bauru Type 0
                Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 0
                Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 0
                Radio-Renal Syndrome 0
                Rubinstein-Taybi syndrome + 81
                Spondylospinal Thoracic Dysostosis 0
                Thoracopelvic Dysostosis 0
                acrodysostosis + 6
                acrofacial dysostosis + 6
                acrofrontofacionasal dysostosis 0
                brachydactyly + 33
                contractures, pterygia, and spondylocarpotarsal fusion syndrome + 10
                focal dermal hypoplasia 3
                frontonasal dysplasia 1 1
                orofaciodigital syndrome + 24
                spondylocostal dysostosis + 37
                synostosis + 404
paths to the root