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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:synostosis
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Accession:DOID:11971 term browser browse the term
Definition:A union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue. (Dorland, 27th ed)
Synonyms:exact_synonym: Synostoses
 primary_id: MESH:D013580;   RDO:0000289
For additional species annotation, visit the Alliance of Genome Resources.



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3MC syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Ahsg alpha-2-HS-glycoprotein ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr11:78,117,903...78,145,956 JBrowse link
G Colec11 collectin sub-family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr 6:45,223,974...45,256,640
Ensembl chr 6:45,223,980...45,271,145
JBrowse link
G Crygs crystallin, gamma S ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr11:78,207,170...78,212,273
Ensembl chr11:78,207,170...78,212,273
JBrowse link
G Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr11:78,151,750...78,168,259
Ensembl chr11:78,150,429...78,180,407
JBrowse link
G Eif4a2 eukaryotic translation initiation factor 4A2 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr11:77,764,126...77,770,810
Ensembl chr11:77,764,124...77,770,781
JBrowse link
G Fetub fetuin B ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr11:78,082,158...78,093,022
Ensembl chr11:78,082,156...78,095,135
JBrowse link
G Hrg histidine-rich glycoprotein ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr11:78,054,488...78,069,402
Ensembl chr11:78,054,498...78,069,389
JBrowse link
G Kng2 kininogen 2 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr11:77,913,876...77,936,247 JBrowse link
G Masp1 MBL associated serine protease 1 ISO ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by OMIM:257920
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:17937425 PMID:18266249 PMID:21035106 PMID:21258343 PMID:22966085 More... NCBI chr11:77,334,794...77,405,271
Ensembl chr11:77,334,859...77,402,974
JBrowse link
G Rfc4 replication factor C subunit 4 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr11:77,749,642...77,764,123
Ensembl chr11:77,749,638...77,764,122
JBrowse link
G Rpl39l ribosomal protein L39-like ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr10:5,455,712...5,459,828
Ensembl chr10:5,454,559...5,462,029
JBrowse link
G Rtp1 receptor (chemosensory) transporter protein 1 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr11:77,422,982...77,425,498
Ensembl chr11:77,422,982...77,425,498
JBrowse link
G St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr11:77,526,837...77,653,474
Ensembl chr11:77,526,837...77,653,310
JBrowse link
G Tbccd1 TBCC domain containing 1 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr11:78,168,386...78,205,314
Ensembl chr11:78,168,388...78,205,523
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 chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 severity
treatment
ISO ClinVar Annotator: match by term: Acrocephalosyndactyly type I
ClinVar Annotator: match by term: Craniofacial-skeletal-dermatologic dysplasia
ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly
ClinVar Annotator: match by term: Apert syndrome
ClinVar Annotator: match by term: Saethre-Chotzen syndrome
DNA:missense mutation:cds:p.P253R (human)
DNA:missense mutation:cds:p.A172F (human)
DNA:missense mutations:cds:p.S252W, p.P253R (human)
ClinVar Annotator: match by OMIM:101200
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:
OMIM
ClinVar
CTD
RGD
PMID:7558045 PMID:7607643 PMID:7655462 PMID:7668257 PMID:7719344 More... RGD:12801488, RGD:12801475, RGD:12801474, RGD:12801413, RGD:8547743 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO SCS,OMIM:101400;DNA:point mutation:exon:Y103X,Q119P
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15923834 PMID:23354436 PMID:8988166 RGD:1624353 NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
JBrowse link
acrofacial dysostosis Cincinnati type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1a RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Acrofacial dysostosis, Cincinnati type OMIM
ClinVar
PMID:25741868 PMID:25913037 PMID:28492532 NCBI chr 4:103,950,051...104,014,022
Ensembl chr 4:103,950,051...104,014,020
JBrowse link
acromelic frontonasal dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zswim6 zinc finger, SWIM-type containing 6 ISO ClinVar Annotator: match by term: Acromelic frontonasal dysostosis OMIM
ClinVar
PMID:25105228 PMID:25741868 PMID:26706854 PMID:28492532 NCBI chr 2:39,211,131...39,378,877
Ensembl chr 2:39,212,949...39,378,924
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 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteodysgenesis, multisynostotic with fractures
ClinVar Annotator: match by term: Antley-Bixler Syndrome, Autosomal Dominant
DNA:missense mutations:cds:multiple (human)
CTD
ClinVar
RGD
PMID:7558045 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... RGD:12801485 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Por cytochrome p450 oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14758361 PMID:15220035 PMID:16906539 PMID:27496950 NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
JBrowse link
Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
ClinVar Annotator: match by OMIM:201750
OMIM
ClinVar
PMID:9360545 PMID:12116245 PMID:14513299 PMID:14758361 PMID:15220035 More... NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
JBrowse link
ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
ClinVar Annotator: match by term: Antley-bixler syndrome without genital anomalies or disordered steroidogenesis
OMIM
ClinVar
PMID:7558045 PMID:7607643 PMID:7668257 PMID:7719344 PMID:7719345 More... NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Por cytochrome p450 oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
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: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
ClinVar
OMIM
PMID:25741868 PMID:29432562 NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
JBrowse link
autosomal recessive craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive type OMIM
ClinVar
PMID:11146471 PMID:23951358 PMID:25741868 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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 7:116,310,582...116,390,075
Ensembl chr 7:116,310,582...116,390,075
JBrowse link
Baller-Gerold syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Baller-Gerold syndrome
ClinVar Annotator: match by term: Craniosynostosis with radial defects
OMIM
ClinVar
PMID:9536098 PMID:9878247 PMID:10319867 PMID:10678659 PMID:12734318 More... NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619
JBrowse link
Bartsocas-Papas Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO ClinVar Annotator: match by term: Bartsocas-Papas syndrome
ClinVar Annotator: match by term: Popliteal pterygium syndrome lethal type
ClinVar Annotator: match by OMIM:263650
OMIM
ClinVar
PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 More... NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
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 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
JBrowse link
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome ClinVar
OMIM
PMID:25488817 PMID:25741868 PMID:25792360 PMID:28492532 PMID:30039206 NCBI chr 1:95,359,961...95,375,827
Ensembl chr 1:95,360,284...95,375,877
JBrowse link
Beare-Stevenson cutis gyrata syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Beare-Stevenson cutis gyrata syndrome
ClinVar Annotator: match by term: Cutis Gyrata syndrome of Beare and Stevenson
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:7558045 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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
ClinVar Annotator: match by term: C-like syndrome
ClinVar Annotator: match by OMIM:605039
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:18414213 PMID:21706002 PMID:22419483 PMID:24033266 PMID:25131622 More... NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
JBrowse link
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: C-like syndrome ClinVar PMID:25741868 NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
JBrowse link
Brachycephaly, Trichomegaly, and Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps23 ribosomal protein S23 ISO ClinVar Annotator: match by term: MACINNES SYNDROME
ClinVar Annotator: match by term: BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY
ClinVar
OMIM
PMID:25741868 PMID:28257692 NCBI chr 2:22,079,339...22,080,909
Ensembl chr 2:22,079,302...22,080,918
JBrowse link
brachydactyly-syndactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxd13 homeo box D13 ISO ClinVar Annotator: match by term: Brachydactyly-syndactyly syndrome
ClinVar Annotator: match by term: Brachydactyly-syndactyly-oligodactyly syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:610713
OMIM
ClinVar
CTD
PMID:17236141 PMID:23995701 PMID:24239177 PMID:25741868 NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
JBrowse link
C syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd96 CD96 molecule ISO ClinVar Annotator: match by term: C syndrome
ClinVar Annotator: match by OMIM:211750
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:17847009 PMID:25741868 PMID:28492532 NCBI chr11:54,702,290...54,776,618
Ensembl chr11:54,702,290...54,776,621
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 OMIM
ClinVar
PMID:25741868 NCBI chr17:8,794,134...8,800,292
Ensembl chr17:8,794,134...8,800,291
JBrowse link
Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag2 BAG cochaperone 2 ISO ClinVar Annotator: match by term: Carpenter syndrome ClinVar NCBI chr 9:35,970,033...35,980,677
Ensembl chr 9:35,970,033...35,980,721
JBrowse link
G Megf8 multiple EGF-like-domains 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Carpenter syndrome
CTD
ClinVar
NCBI chr 1:80,902,236...80,951,614
Ensembl chr 1:80,902,574...80,951,613
JBrowse link
G Rab23 RAB23, member RAS oncogene family ISO ClinVar Annotator: match by term: Carpenter syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17503333 PMID:21412941 PMID:23599695 PMID:24458945 PMID:25168863 More... NCBI chr 9:35,943,522...35,967,367
Ensembl chr 9:35,944,085...35,966,927
JBrowse link
Carpenter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag2 BAG cochaperone 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 1 ClinVar NCBI chr 9:35,970,033...35,980,677
Ensembl chr 9:35,970,033...35,980,721
JBrowse link
G Rab23 RAB23, member RAS oncogene family ISO ClinVar Annotator: match by term: Carpenter syndrome 1
ClinVar Annotator: match by OMIM:201000
OMIM
ClinVar
PMID:17503333 PMID:20358613 PMID:21412941 PMID:23599695 PMID:24458945 More... NCBI chr 9:35,943,522...35,967,367
Ensembl chr 9:35,944,085...35,966,927
JBrowse link
Carpenter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Megf8 multiple EGF-like-domains 8 ISO ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar Annotator: match by OMIM:614976
OMIM
ClinVar
PMID:23063620 PMID:25326635 PMID:25741868 PMID:28492532 NCBI chr 1:80,902,236...80,951,614
Ensembl chr 1:80,902,574...80,951,613
JBrowse link
Cenani-Lenz syndactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp4 LDL receptor related protein 4 ISO ClinVar Annotator: match by term: Cenani-Lenz syndactyly syndrome
ClinVar Annotator: match by term: SYNDACTYLY, TYPE VII
ClinVar Annotator: match by term: Syndactyly Cenani Lenz type
ClinVar Annotator: match by OMIM:212780
OMIM
ClinVar
PMID:7891385 PMID:9182770 PMID:9536098 PMID:10756427 PMID:11260233 More... NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593
JBrowse link
cleft lip-palate-ectodermal dysplasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:225060
OMIM
ClinVar
CTD
PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 More... NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
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: Cole-Carpenter syndrome
CTD
ClinVar
PMID:25741868 NCBI chr10:105,836,972...105,848,583
Ensembl chr10:105,836,982...105,848,500
JBrowse link
G Sec24d SEC24 homolog D, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:211,418,557...211,526,588
Ensembl chr 2:211,418,623...211,526,587
JBrowse link
Cole-Carpenter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4hb prolyl 4-hydroxylase subunit beta ISO ClinVar Annotator: match by term: Cole-Carpenter syndrome 1 OMIM
ClinVar
PMID:25683117 PMID:25741868 NCBI chr10:105,836,972...105,848,583
Ensembl chr10:105,836,982...105,848,500
JBrowse link
Cole-Carpenter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec24d SEC24 homolog D, COPII coat complex component ISO ClinVar Annotator: match by term: Cole-Carpenter syndrome 2
ClinVar Annotator: match by term: Cole-carpenter syndrome 2
OMIM
ClinVar
PMID:25683121 PMID:25741868 PMID:26467156 PMID:27942778 PMID:30462379 NCBI chr 2:211,418,557...211,526,588
Ensembl chr 2:211,418,623...211,526,587
JBrowse link
congenital heart defects, hamartomas of tongue, and polysyndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdpcp WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Orstavik Lindemann Solberg syndrome
ClinVar Annotator: match by term: Congenital heart defects, hamartomas of tongue, and polysyndactyly
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:20671153 PMID:25326635 PMID:25427950 More... NCBI chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113
JBrowse link
cranioectodermal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift122 intraflagellar transport 122 ISO ClinVar Annotator: match by OMIM:218330
ClinVar Annotator: match by term: Cranioectodermal dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:23826986 PMID:25741868 PMID:28492532 NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
JBrowse link
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 6:105,729,734...105,806,257
Ensembl chr 6:105,729,792...105,806,257
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 6:31,748,383...31,768,101
Ensembl chr 6:31,748,474...31,768,101
JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia ClinVar NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:23559409 PMID:25726036 PMID:25741868 PMID:26260382 PMID:27596865 More... NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia
ClinVar Annotator: match by term: Sensenbrenner syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:28332779 More... NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029
JBrowse link
cranioectodermal dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 ClinVar
OMIM
PMID:17022080 PMID:19648123 PMID:19760620 PMID:20493458 PMID:23826986 More... NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
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:28492532 NCBI chr 6:31,748,383...31,768,101
Ensembl chr 6:31,748,474...31,768,101
JBrowse link
G Spag17 sperm associated antigen 17 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar NCBI chr 2:187,264,004...187,511,061
Ensembl chr 2:187,264,009...187,510,501
JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2
DNA:missense mutation:cds:p.L520P (human)
ClinVar Annotator: match by OMIM:613610
OMIM
ClinVar
RGD
PMID:20817137 PMID:21473986 PMID:22486404 PMID:22987818 PMID:24033266 More... RGD:11553909 NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029
JBrowse link
cranioectodermal dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 3
ClinVar Annotator: match by OMIM:614099
OMIM
ClinVar
PMID:21378380 NCBI chr 6:105,729,734...105,806,257
Ensembl chr 6:105,729,792...105,806,257
JBrowse link
cranioectodermal dysplasia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 4
DNA:missense mutation:cds:p.L750P (mouse)
ClinVar Annotator: match by OMIM:614378
OMIM
ClinVar
RGD
PMID:9536098 PMID:17576681 PMID:22019273 PMID:23683095 PMID:24027800 More... RGD:11552606 NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
JBrowse link
craniosynostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 ALX homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
JBrowse link
G Axin2 axin 2 ISS OMIM:123100 | OMIM:182212 | OMIM:600593 | OMIM:600775 | OMIM:604757 | OMIM:615314 | OMIM:615529 MouseDO NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
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 8:21,013,865...21,437,934
Ensembl chr 8:21,013,944...21,437,930
JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23160099 NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532
JBrowse link
G Dedd2 death effector domain containing 2 ISO ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr 1:80,789,084...80,807,789
Ensembl chr 1:80,792,000...80,807,714
JBrowse link
G Efnb1 ephrin B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15166289 NCBI chr  X:64,257,351...64,270,158
Ensembl chr  X:64,257,351...64,270,157
JBrowse link
G Erf Ets2 repressor factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniosynostosis 1
ClinVar Annotator: match by term: Syndromic craniosynostosis
ClinVar Annotator: match by term: Lambdoidal craniosynostosis
ClinVar Annotator: match by term: Craniosynostosis 4
CTD
ClinVar
PMID:9536098 PMID:17576681 PMID:23354439 PMID:25741868 PMID:26097063 More... NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:26424790 NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Craniosynostosis ClinVar PMID:25741868 PMID:31837199 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Craniosynostosis ClinVar PMID:25741868 PMID:28166811 PMID:28492532 NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO DNA:missense mutation:exon:p.P250R (mouse)
ClinVar Annotator: match by term: Craniostenosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:28492532 PMID:10942429 RGD:11567263 NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO DNA:substitutions:multiple (human)
ClinVar Annotator: match by term: FGFR2 related craniosynostosis
ClinVar Annotator: match by term: Premature closure of cranial sutures
ClinVar Annotator: match by term: Craniosynostosis, nonsyndromic unicoronal
ClinVar Annotator: match by term: Craniostenosis
human cells in a rat model
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.Y105C, p.G384R (human)
ClinVar
CTD
RGD
PMID:1519658 PMID:1697263 PMID:2172978 PMID:4078868 PMID:7558045 More... RGD:6480630, RGD:12801469, RGD:8547554, RGD:12801484 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO DNA:missense mutation:cds:p.P250R(human)
ClinVar Annotator: match by term: Premature closure of cranial sutures
ClinVar Annotator: match by term: Craniosynostosis
ClinVar Annotator: match by term: Craniosynostosis, nonspecific
ClinVar
RGD
PMID:1908846 PMID:7773297 PMID:8589699 PMID:8845844 PMID:8858131 More... RGD:11568028 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G Flna filamin A ISO DNA:missense mutations:cds:multiple (human) RGD PMID:25873011 RGD:11531800 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Trigonocephaly
CTD
ClinVar
NCBI chr 5:97,321,275...97,469,523
Ensembl chr 5:97,322,538...97,469,543
JBrowse link
G Grik5 glutamate ionotropic receptor kainate type subunit 5 ISO ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr 1:80,605,878...80,667,896
Ensembl chr 1:80,605,892...80,667,125
JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr 1:80,815,843...80,825,732
Ensembl chr 1:80,815,850...80,825,802
JBrowse link
G Ift122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
JBrowse link
G Msx2 msh homeobox 2 ISO
ISS
craniosynostosis type 2, OMIM:604757, DNA:point mutation:exon:P148H
OMIM:123100 | OMIM:182212 | OMIM:600593 | OMIM:600775 | OMIM:604757 | OMIM:615314 | OMIM:615529
MouseDO
RGD
PMID:8968743 RGD:1600491 NCBI chr17:11,097,214...11,102,879
Ensembl chr17:11,097,103...11,102,879
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 1:99,709,305...100,573,872
Ensembl chr 1:99,709,793...100,573,860
JBrowse link
G Nog noggin treatment ISO RGD PMID:19627528 RGD:8547554 NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
JBrowse link
G Pafah1b3 platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 ISO ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr 1:80,881,263...80,883,789
Ensembl chr 1:80,881,309...80,883,893
JBrowse link
G Pou2f2 POU class 2 homeobox 2 ISO ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr 1:80,682,330...80,769,756
Ensembl chr 1:80,685,741...80,724,261
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Brachycephaly ClinVar PMID:11992261 PMID:14644997 PMID:15539800 PMID:15723289 PMID:15987685 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Rabac1 Rab acceptor 1 ISO ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr 1:80,564,029...80,567,164
Ensembl chr 1:80,564,033...80,567,163
JBrowse link
G Ski SKI proto-oncogene ISS OMIM:123100 | OMIM:182212 | OMIM:600593 | OMIM:600775 | OMIM:604757 | OMIM:615314 | OMIM:615529 MouseDO NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
JBrowse link
G Smad6 SMAD family member 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
JBrowse link
G Tcf12 transcription factor 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23354436 NCBI chr 8:72,490,447...72,799,265
Ensembl chr 8:72,492,567...72,799,201
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Craniosynostosis ClinVar PMID:25741868 PMID:31837199 NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Craniosynostosis 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:123100
OMIM
ClinVar
CTD
PMID:1240778 PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 More... NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
JBrowse link
G Wdr35 WD repeat domain 35 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20817137 NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029
JBrowse link
G Zfp526 zinc finger protein 526 ISO ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr 1:80,807,791...80,817,852
Ensembl chr 1:80,806,972...80,818,180
JBrowse link
G Zfp574 zinc finger protein 574 ISO ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar NCBI chr 1:80,667,984...80,678,257
Ensembl chr 1:80,664,259...80,679,427
JBrowse link
G Zic1 Zic family member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:91,908,548...91,918,020
Ensembl chr 8:91,908,576...91,912,731
JBrowse link
Craniosynostosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msx2 msh homeobox 2 ISO ClinVar Annotator: match by term: Craniosynostosis 2 OMIM
ClinVar
PMID:7597092 PMID:8106171 PMID:8357019 PMID:8968743 PMID:9256341 More... NCBI chr17:11,097,214...11,102,879
Ensembl chr17:11,097,103...11,102,879
JBrowse link
Craniosynostosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcf12 transcription factor 12 ISO ClinVar Annotator: match by term: Craniosynostosis 3
ClinVar Annotator: match by OMIM:615314
OMIM
ClinVar
PMID:23354436 PMID:24736737 PMID:25741868 NCBI chr 8:72,490,447...72,799,265
Ensembl chr 8:72,492,567...72,799,201
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Coronal craniosynostosis ClinVar NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
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 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
JBrowse link
Craniosynostosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 ALX homeobox 4 susceptibility ISO ClinVar Annotator: match by term: Craniosynostosis 5, susceptibility to ClinVar
OMIM
PMID:22829454 NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260
JBrowse link
Craniosynostosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zic1 Zic family member 1 ISO ClinVar Annotator: match by term: Craniosynostosis 6 OMIM
ClinVar
PMID:25741868 PMID:26340333 NCBI chr 8:91,908,548...91,918,020
Ensembl chr 8:91,908,576...91,912,731
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 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
JBrowse link
G Smad6 SMAD family member 6 susceptibility ISO ClinVar Annotator: match by term: Craniosynostosis 7
ClinVar Annotator: match by term: CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO
OMIM
ClinVar
PMID:25741868 PMID:27606499 PMID:28492532 NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
JBrowse link
Craniosynostosis and Dental Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Craniosynostosis and dental anomalies
ClinVar Annotator: match by OMIM:614188
OMIM
ClinVar
PMID:21741611 PMID:25741868 NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
JBrowse link
Craniosynostosis Syndrome, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl4 ADAMTS-like 4 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848
JBrowse link
G Axin2 axin 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
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 4:117,041,808...117,058,628
Ensembl chr 4:117,041,808...117,058,628
JBrowse link
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:28166811 PMID:28492532 NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976
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 chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:7558045 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8957519 More... NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:1908846 PMID:4697848 PMID:7493034 PMID:7649548 PMID:7670477 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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 chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
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 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
JBrowse link
G Man2b1 mannosidase, alpha, class 2B, member 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 NCBI chr19:23,055,092...23,074,398
Ensembl chr19:23,055,097...23,074,389
JBrowse link
G Msx1 msh homeobox 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr14:72,961,170...72,964,970
Ensembl chr14:72,961,148...72,964,966
JBrowse link
G Msx2 msh homeobox 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar NCBI chr17:11,097,214...11,102,879
Ensembl chr17:11,097,103...11,102,879
JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:28492532 PMID:31837199 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
G Runx2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:21448560 PMID:25741868 NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
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:31837199 NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665
JBrowse link
G Tcf12 transcription factor 12 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:31837199 NCBI chr 8:72,490,447...72,799,265
Ensembl chr 8:72,492,567...72,799,201
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 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar NCBI chr 7:81,916,668...82,142,733
Ensembl chr 7:81,921,601...82,141,905
JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:25741868 PMID:28492532 PMID:31837199 NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
JBrowse link
G Zfp462 zinc finger protein 462 ISO ClinVar Annotator: match by term: Craniosynostosis syndrome ClinVar PMID:28513610 NCBI chr 5:69,670,085...69,810,729
Ensembl chr 5:69,670,328...69,810,327
JBrowse link
Crouzon syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Crouzon syndrome
ClinVar Annotator: match by term: Crouzon disease
ClinVar Annotator: match by term: Craniofacial dysostosis type 1
DNA:missense mutations:cds:p.Y281C, p.G289P (human)
DNA:missense mutations, silent mutation:cds:multiple (human)
DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by OMIM:123500
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:1519658 PMID:1697263 PMID:2172978 PMID:4078868 PMID:7558045 More... RGD:12801472, RGD:12801470, RGD:12801466 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Crouzon syndrome ClinVar PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 ISO ClinVar Annotator: match by term: Craniofacial dysostosis ClinVar PMID:25741868 NCBI chr18:54,267,015...54,300,324
Ensembl chr18:54,267,026...54,300,324
JBrowse link
Crouzon syndrome-acanthosis nigricans syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: CROUZONODERMOSKELETAL SYNDROME
ClinVar Annotator: match by term: Crouzon syndrome with acanthosis nigricans
ClinVar Annotator: match by OMIM:612247
DNA:missense mutation:p.A391E(human)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:1908846 PMID:7493034 PMID:7773297 PMID:8589699 PMID:8858131 More... RGD:11568032 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
Diamond Blackfan anemia 15 with mandibulofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100361854 ribosomal protein S26-like ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:17483715 PMID:19816270 PMID:20116044 PMID:23718193 PMID:24942156 More... NCBI chr  X:107,822,116...107,822,555
Ensembl chr  X:107,822,178...107,822,525
JBrowse link
G Rps28 ribosomal protein S28 ISO ClinVar Annotator: match by OMIM:606164 OMIM
ClinVar
PMID:24942156 NCBI chr 7:14,607,801...14,609,170
Ensembl chr 7:14,607,801...14,609,170
JBrowse link
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:11424144 PMID:24942156 NCBI chr  X:20,064,102...20,072,673
Ensembl chr  X:20,064,103...20,072,620
JBrowse link
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS
OMIM
ClinVar
PMID:11424144 PMID:24942156 PMID:25741868 PMID:28492532 NCBI chr  X:20,064,102...20,072,673
Ensembl chr  X:20,064,103...20,072,620
JBrowse link
distal arthrogryposis type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO OMIM NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
JBrowse link
Ectodermal Dysplasia-Syndactyly Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nectin4 nectin cell adhesion molecule 4 ISO ClinVar Annotator: match by term: Ectodermal dysplasia-syndactyly syndrome 1
ClinVar Annotator: match by OMIM:613573
OMIM
ClinVar
PMID:20691405 PMID:21346770 PMID:24577405 PMID:25529316 PMID:25741868 More... NCBI chr13:83,802,589...83,821,711
Ensembl chr13:83,803,184...83,821,709
JBrowse link
Filippi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ckap2l cytoskeleton associated protein 2-like ISO ClinVar Annotator: match by term: Filippi syndrome ClinVar
OMIM
PMID:8867657 PMID:15365457 PMID:18553552 PMID:25439729 PMID:25741868 More... NCBI chr 3:116,497,186...116,524,302
Ensembl chr 3:116,498,022...116,524,366
JBrowse link
Fraser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fras1 Fraser extracellular matrix complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17163535 NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726
JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISS OMIM:219000 MouseDO NCBI chr 5:97,321,275...97,469,523
Ensembl chr 5:97,322,538...97,469,543
JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17163535 NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISS OMIM:219000 MouseDO NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273
JBrowse link
Fraser syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fras1 Fraser extracellular matrix complex subunit 1 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Fraser syndrome 1
ClinVar Annotator: match by term: Cryptophthalmos syndrome
ClinVar Annotator: match by term: FRASER SYNDROME 1
ClinVar Annotator: match by term: CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME
ClinVar Annotator: match by OMIM:219000
ClinVar
OMIM
RGD
PMID:12766769 PMID:16894541 PMID:17163535 PMID:18671281 PMID:21900877 More... RGD:1598960 NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726
JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by OMIM:219000
ClinVar Annotator: match by term: Fraser syndrome 1
ClinVar Annotator: match by term: CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME
ClinVar PMID:25741868 PMID:26275891 PMID:28492532 NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO ClinVar Annotator: match by OMIM:219000
ClinVar Annotator: match by term: Cryptophthalmos syndrome
ClinVar Annotator: match by term: CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME
ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273
JBrowse link
Fraser syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frem2 FRAS1 related extracellular matrix 2 IAGP
ISO
ClinVar Annotator: match by term: FRASER SYNDROME 2 ClinVar
OMIM
RGD
PMID:15838507 PMID:18203166 PMID:18671281 PMID:24115501 PMID:25741868 More... RGD:13464328 NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
JBrowse link
G Frem2fpl Fras1 related extracellular matrix protein 2;fpl mutant IAGP RGD PMID:21756877 RGD:13464328
Fraser syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts14 ADAM metallopeptidase with thrombospondin type 1 motif, 14 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr20:29,143,029...29,219,846
Ensembl chr20:29,144,354...29,219,866
JBrowse link
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr10:56,655,693...56,664,922
Ensembl chr10:56,655,693...56,664,922
JBrowse link
G Aspa aspartoacylase ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:28492532 NCBI chr10:57,891,704...57,945,267
Ensembl chr10:57,892,104...57,945,272
JBrowse link
G Bclaf1 BCL2-associated transcription factor 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr 1:15,088,436...15,117,666 JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr10:53,760,504...53,762,358
Ensembl chr10:53,758,093...53,762,632
JBrowse link
G Gnb5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 8:76,076,227...76,104,151
Ensembl chr 8:76,073,306...76,105,069
JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3
ClinVar Annotator: match by term: Fraser syndrome 3
ClinVar
OMIM
PMID:21383172 PMID:22510445 PMID:24033266 PMID:25741868 PMID:26539891 More... NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273
JBrowse link
G Lsm10 LSM10, U7 small nuclear RNA associated ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 5:138,365,983...138,375,856
Ensembl chr 5:138,373,119...138,377,505
JBrowse link
G Med23 mediator complex subunit 23 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 1:20,490,315...20,558,461
Ensembl chr 1:20,490,315...20,537,463
JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 1:52,437,745...52,449,369
Ensembl chr 1:52,437,741...52,449,400
JBrowse link
G Myo18b myosin XVIIIb ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr12:43,747,003...43,953,694
Ensembl chr12:43,747,010...43,953,695
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 1:96,392,132...96,420,926
Ensembl chr 1:96,394,824...96,420,925
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar PMID:28492532 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
G Spata22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:28492532 NCBI chr10:57,945,272...57,963,081
Ensembl chr10:57,932,187...57,963,081
JBrowse link
G Tlcd3a TLC domain containing 3A ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr10:61,057,470...61,065,293
Ensembl chr10:61,058,042...61,065,283
JBrowse link
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr10:60,281,969...60,295,374
Ensembl chr10:60,281,972...60,295,296
JBrowse link
Freeman-Sheldon syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by OMIM:193700
ClinVar Annotator: match by term: Freeman-Sheldon syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16642020 PMID:18414213 PMID:18695058 PMID:19142688 PMID:20924721 More... NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
JBrowse link
Frontonasal Dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 ALX homeobox 4 ISO ClinVar Annotator: match by term: Frontonasal dysplasia 2
ClinVar Annotator: match by OMIM:613451
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:19692347 PMID:22140057 PMID:24668755 PMID:25741868 PMID:28492532 NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260
JBrowse link
Gillessen-Kaesbach-Nishimura Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Gillessen-kaesbach-nishimura syndrome
ClinVar Annotator: match by term: Gillessen-Kaesbach-Nishimura syndrome
ClinVar
OMIM
PMID:25741868 PMID:25966638 PMID:28492532 NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261
JBrowse link
Goldenhar syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frk fyn-related Src family tyrosine kinase ISO ClinVar Annotator: match by term: Goldenhar syndrome ClinVar NCBI chr20:38,265,416...38,371,038
Ensembl chr20:38,265,280...38,371,114
JBrowse link
G Zic3 Zic family member 3 ISS OMIM:164210 MouseDO NCBI chr  X:136,123,662...136,134,295
Ensembl chr  X:136,124,026...136,134,746
JBrowse link
Greig cephalopolysyndactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome, severe
DNA:mutations:exon, intron:multiple
DNA:nonsense mutations, missense mutations, splice-site mutations:exon, intron:multiple
DNA:mutations: :multiple
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:175700
OMIM
ClinVar
CTD
RGD
PMID:1879832 PMID:6641002 PMID:9302279 PMID:10441342 PMID:10441570 More... RGD:12738222, RGD:12738208, RGD:12738205, RGD:12738141 NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
JBrowse link
ischiocoxopodopatellar syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx4 T-box transcription factor 4 ISO ClinVar Annotator: match by term: Coxopodopatellar syndrome
ClinVar Annotator: match by term: Ischiopatellar dysplasia
ClinVar Annotator: match by OMIM:147891
OMIM
ClinVar
PMID:11303519 PMID:15106123 PMID:23592887 PMID:24033266 PMID:25741868 More... NCBI chr10:70,730,686...70,760,829
Ensembl chr10:70,731,163...70,760,825
JBrowse link
Jackson-Weiss syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Jackson-Weiss syndrome OMIM
ClinVar
PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 PMID:14564217 More... NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Jackson-Weiss syndrome
DNA:missense mutation:cds:p.R344G (human)
ClinVar Annotator: match by OMIM:123150
OMIM
ClinVar
RGD
PMID:7558045 PMID:7581378 PMID:7655462 PMID:7719329 PMID:7719344 More... RGD:12801470 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
LADD syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf10 fibroblast growth factor 10 ISO ClinVar Annotator: match by term: Levy-Hollister syndrome
ClinVar Annotator: match by OMIM:149730
OMIM
ClinVar
PMID:15654336 PMID:16501574 PMID:16630169 PMID:17213838 PMID:25741868 NCBI chr 2:50,801,897...50,875,428
Ensembl chr 2:50,800,992...50,876,866
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Levy-Hollister syndrome
ClinVar Annotator: match by OMIM:149730
OMIM
ClinVar
PMID:7558045 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: LADD syndrome
ClinVar Annotator: match by term: Levy-Hollister syndrome
ClinVar Annotator: match by OMIM:149730
OMIM
ClinVar
PMID:1908846 PMID:7773297 PMID:8589699 PMID:8858131 PMID:9677066 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
Loeys-Dietz syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:2049575 PMID:21086191 PMID:24033266 PMID:25637381 PMID:25741868 More... NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:28492532 NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar NCBI chr 9:47,448,736...47,598,396
Ensembl chr 9:47,448,736...47,598,154
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 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:7923625 PMID:10199307 PMID:10854329 PMID:14722581 PMID:16444274 More... NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:28492532 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Loeys-Dietz syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9536098 PMID:17576681 PMID:22772368 PMID:24033266 PMID:24711937 More... NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22772368 PMID:22772371 PMID:23102774 PMID:24465802 PMID:25644172 More... NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS
CTD
ClinVar
PMID:7737999 PMID:23824657 PMID:23861362 PMID:24238504 PMID:24798638 More... NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:2647812 PMID:15731757 PMID:16596670 PMID:16791849 PMID:16799921 More... NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Loeys-Dietz Syndrome
ClinVar
CTD
PMID:8246946 PMID:9395234 PMID:9590282 PMID:9771922 PMID:9927040 More... NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
JBrowse link
Loeys-Dietz syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 ClinVar
OMIM
PMID:2647812 PMID:15731757 PMID:16596670 PMID:16791849 PMID:16928994 More... NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 ClinVar PMID:16251899 PMID:18781618 PMID:19006214 PMID:22095581 PMID:22259224 More... NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
JBrowse link
Loeys-Dietz syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections ClinVar PMID:1569206 PMID:2005308 PMID:3495735 PMID:4750422 PMID:7611299 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by OMIM:610168
ClinVar Annotator: match by term: Loeys-Dietz syndrome 2
ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 2
ClinVar
OMIM
PMID:8246946 PMID:8317497 PMID:9590282 PMID:9771922 PMID:9927040 More... NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 2
ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
ClinVar PMID:9536098 PMID:16247757 PMID:17576681 PMID:23861362 PMID:24033266 More... NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727
JBrowse link
Loeys-Dietz syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 3
ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C
ClinVar Annotator: match by OMIM:613795
OMIM
ClinVar
PMID:15350224 PMID:16828225 PMID:17725494 PMID:21217753 PMID:21778426 More... NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 ClinVar PMID:28492532 PMID:30796334 NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
JBrowse link
Loeys-Dietz syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:96,865,634...96,893,506
Ensembl chr13:96,868,580...96,893,503
JBrowse link
G Dusp10 dual specificity phosphatase 10 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:95,613,716...95,651,716
Ensembl chr13:95,614,292...95,651,716
JBrowse link
G Eprs glutamyl-prolyl-tRNA synthetase ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:96,901,548...96,971,966
Ensembl chr13:96,901,575...96,971,966
JBrowse link
G Esrrg estrogen-related receptor gamma ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:99,167,656...99,788,016
Ensembl chr13:99,564,669...99,783,397
JBrowse link
G Gpatch2 G patch domain containing 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:98,784,969...98,925,696
Ensembl chr13:98,784,969...98,925,661
JBrowse link
G Hlx H2.0-like homeobox ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:96,280,335...96,285,750
Ensembl chr13:96,280,339...96,285,750
JBrowse link
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:96,831,773...96,865,533
Ensembl chr13:96,831,484...96,865,501
JBrowse link
G Kctd3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:100,510,193...100,548,765
Ensembl chr13:100,510,195...100,548,718
JBrowse link
G Lyplal1 lysophospholipase-like 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:97,626,451...97,657,901
Ensembl chr13:97,626,451...97,657,867
JBrowse link
G Mark1 microtubule affinity regulating kinase 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:96,450,189...96,555,304
Ensembl chr13:96,451,487...96,555,173
JBrowse link
G Mir194-1 microRNA 194-1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:96,851,166...96,851,248
Ensembl chr13:96,851,166...96,851,248
JBrowse link
G Mtarc1 mitochondrial amidoxime reducing component 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:96,324,377...96,362,677 JBrowse link
G Mtarc2 mitochondrial amidoxime reducing component 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:96,362,810...96,397,284 JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
JBrowse link
G RGD1310587 similar to hypothetical protein FLJ14146 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:96,422,308...96,432,044
Ensembl chr13:96,422,302...96,432,068
JBrowse link
G Rrp15 ribosomal RNA processing 15 homolog ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:98,276,276...98,299,357
Ensembl chr13:98,276,134...98,299,370
JBrowse link
G Slc30a10 solute carrier family 30, member 10 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103
JBrowse link
G Spata17 spermatogenesis associated 17 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:98,605,986...98,784,855
Ensembl chr13:98,605,986...98,784,929
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS
ClinVar Annotator: match by OMIM:614816
OMIM
ClinVar
PMID:22772368 PMID:22772371 PMID:23102774 PMID:24465802 PMID:25046559 More... NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:1631557 PMID:2618446 PMID:7737999 PMID:9536098 PMID:12529708 More... NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922
JBrowse link
Loeys-Dietz syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 5
ClinVar Annotator: match by term: Rienhoff syndrome
OMIM
ClinVar
PMID:7737999 PMID:16199547 PMID:23824657 PMID:24798638 PMID:25136781 More... NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
JBrowse link
Loeys-Dietz Syndrome, Type 1b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1B ClinVar PMID:8246946 PMID:9590282 PMID:9771922 PMID:9927040 PMID:11212236 More... NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1B ClinVar PMID:16247757 PMID:23861362 PMID:24033266 PMID:24375709 PMID:25741868 More... NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727
JBrowse link
Mandibulofacial Dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO DNA:mutations:multiple (human) RGD PMID:23188108 RGD:10045556 NCBI chr10:87,804,893...87,852,181
Ensembl chr10:87,804,892...87,846,079
JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO CTD Direct Evidence: marker/mechanism CTD PMID:21131976 NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
JBrowse link
G Polr1d RNA polymerase I and III subunit D ISO CTD Direct Evidence: marker/mechanism CTD PMID:21131976 NCBI chr12:7,970,592...8,004,157
Ensembl chr12:7,970,595...8,005,624
JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16938878 NCBI chr18:54,267,015...54,300,324
Ensembl chr18:54,267,026...54,300,324
JBrowse link
mandibulofacial dysostosis with alopecia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednra endothelin receptor type A ISO ClinVar Annotator: match by term: Mandibulofacial dysostosis with alopecia ClinVar
OMIM
PMID:16116593 PMID:20583178 PMID:25741868 PMID:25772936 NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
JBrowse link
Mandibulofacial Dysostosis with Mental Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Mandibulofacial dysostosis with mental deficiency ClinVar PMID:9973280 PMID:10396622 PMID:11017087 PMID:11527935 PMID:11726554 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
JBrowse link
mandibulofacial dysostosis, Guion-Almeida type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO ClinVar Annotator: match by term: Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
ClinVar Annotator: match by OMIM:610536
DNA:mutations:multiple (human)
OMIM
ClinVar
RGD
PMID:16760738 PMID:19334086 PMID:22305528 PMID:22541558 PMID:23188108 More... RGD:10045557 NCBI chr10:87,804,893...87,852,181
Ensembl chr10:87,804,892...87,846,079
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 ClinVar Annotator: match by term: Mesoaxial synostotic syndactyly with phalangeal reduction
ClinVar Annotator: match by term: Syndactyly type 9
OMIM
ClinVar
PMID:9783716 PMID:15039974 PMID:25466284 PMID:25741868 NCBI chr10:61,513,609...61,514,301
Ensembl chr10:61,513,609...61,514,301
JBrowse link
Muenke syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Syndrome of coronal craniosynostosis
ClinVar Annotator: match by term: Muenke syndrome
OMIM
ClinVar
PMID:1908846 PMID:7773297 PMID:8589699 PMID:8723106 PMID:8841188 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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 chr15:32,208,993...32,254,952
Ensembl chr15:32,210,074...32,253,309
JBrowse link
G Gdf5 growth differentiation factor 5 ISS OMIM:186500 | OMIM:610017 | OMIM:612961 MouseDO NCBI chr 3:144,454,306...144,458,757
Ensembl chr 3:144,454,338...144,458,612
JBrowse link
G Nog noggin ISS OMIM:186500 | OMIM:610017 | OMIM:612961 MouseDO NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
JBrowse link
Multiple Synostoses Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf9 fibroblast growth factor 9 ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome ClinVar NCBI chr15:32,208,993...32,254,952
Ensembl chr15:32,210,074...32,253,309
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 3:144,454,306...144,458,757
Ensembl chr 3:144,454,338...144,458,612
JBrowse link
G Nog noggin ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
DNA:mutation:cds:1426G>C (P.W205C)(Human)
ClinVar Annotator: match by OMIM:186500
ClinVar
OMIM
RGD
PMID:3667255 PMID:6638061 PMID:10080184 PMID:11846737 PMID:15770128 More... RGD:1600234, RGD:12801467 NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
JBrowse link
Multiple Synostoses Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Multiple synostoses syndrome 2
ClinVar Annotator: match by OMIM:610017
OMIM
ClinVar
PMID:16127465 PMID:16532400 PMID:17384641 PMID:25741868 PMID:28492532 NCBI chr 3:144,454,306...144,458,757
Ensembl chr 3:144,454,338...144,458,612
JBrowse link
Multiple Synostoses Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf9 fibroblast growth factor 9 ISO ClinVar Annotator: match by term: Multiple synostoses syndrome 3
ClinVar Annotator: match by OMIM:612961
OMIM
ClinVar
PMID:19589401 PMID:25741868 PMID:28492532 PMID:28730625 NCBI chr15:32,208,993...32,254,952
Ensembl chr15:32,210,074...32,253,309
JBrowse link
Multiple Synostoses Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf6 growth differentiation factor 6 ISO ClinVar Annotator: match by term: MULTIPLE SYNOSTOSES SYNDROME 4 ClinVar
OMIM
PMID:25741868 PMID:26643732 PMID:29130651 NCBI chr 5:22,996,246...23,012,567
Ensembl chr 5:22,996,246...23,012,567
JBrowse link
Nager acrofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sf3b4 splicing factor 3b, subunit 4 ISO ClinVar Annotator: match by term: Nager syndrome
ClinVar Annotator: match by OMIM:154400
OMIM
ClinVar
PMID:22541558 PMID:23568615 PMID:25741868 PMID:28492532 NCBI chr 2:183,732,791...183,737,545
Ensembl chr 2:183,732,754...183,737,959
JBrowse link
Nonsyndromic Trigonocephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Nonsyndromic Trigonocephaly ClinVar NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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 5:97,321,275...97,469,523
Ensembl chr 5:97,322,538...97,469,543
JBrowse link
oblique facial clefting 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO ClinVar Annotator: match by term: Oculomaxillofacial dysostosis
ClinVar Annotator: match by OMIM:600251
OMIM
ClinVar
PMID:21703590 PMID:25741868 NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665
JBrowse link
oculodentodigital dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO DNA:missense mutation:cds:p.P59H (human)
ClinVar Annotator: match by term: Oculodentodigital dysplasia
CTD Direct Evidence: marker/mechanism
DNA:mutation:cd:p.G138R(mouse)
ClinVar Annotator: match by OMIM:164200
DNA:missense mutation: :p.H194P (human)
DNA:missense mutations, duplication:multiple (human)
DNA:missense mutation:cds:p.G60S (mouse)
ClinVar
CTD
OMIM
RGD
PMID:220941 PMID:1057461 PMID:2309863 PMID:4209752 PMID:7815444 More... RGD:1578474, RGD:12910132, RGD:8662400, RGD:8662375, RGD:8662372 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
JBrowse link
Oculodentodigital Dysplasia, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive ClinVar
OMIM
PMID:2309863 PMID:11470490 PMID:12457340 PMID:14974090 PMID:14981729 More... NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
JBrowse link
orofacial cleft 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by null ClinVar PMID:10932188 PMID:11559849 NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
JBrowse link
Patterson Stevenson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb development membrane protein 1 ISO ClinVar Annotator: match by term: Triphalangeal thumb polysyndactyly syndrome ClinVar PMID:17300748 PMID:18178630 PMID:18417549 NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368
JBrowse link
G Shh sonic hedgehog signaling molecule ISO DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
JBrowse link
Periventricular Nodular Heterotopia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 7
ClinVar Annotator: match by term: Periventricular nodular heterotopia 7
ClinVar
OMIM
PMID:25741868 PMID:27694961 PMID:32238909 NCBI chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137
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 ClinVar Annotator: match by term: Pfeiffer syndrome OMIM
ClinVar
PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 PMID:14564217 More... NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Pfeiffer syndrome
ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5
ClinVar Annotator: match by term: ACS V
OMIM
ClinVar
PMID:7558045 PMID:7581378 PMID:7607643 PMID:7655462 PMID:7719333 More... NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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 ClinVar Annotator: match by term: Popliteal pterygium syndrome
ClinVar Annotator: match by OMIM:119500
OMIM
ClinVar
PMID:12219090 PMID:14757865 PMID:18478600 PMID:18617879 PMID:19036739 More... NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386
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 chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
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 (quinone) ISO ClinVar Annotator: match by term: Miller syndrome
ClinVar Annotator: match by OMIM:263750
OMIM
ClinVar
PMID:19915526 PMID:20220176 PMID:21346561 PMID:22692683 PMID:22967083 More... NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654
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 4:81,342,527...81,346,189
Ensembl chr 4:81,342,528...81,346,232
JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Radioulnar synostosis ClinVar
OMIM
PMID:31138930 NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
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 CTD PMID:24239177 NCBI chr 4:81,342,527...81,346,189
Ensembl chr 4:81,342,528...81,346,232
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: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 OMIM
ClinVar
PMID:11101832 NCBI chr 4:81,342,527...81,346,189
Ensembl chr 4:81,342,528...81,346,232
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 Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
ClinVar Annotator: match by OMIM:616738
OMIM
ClinVar
PMID:20091385 PMID:25741868 PMID:26581901 NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590
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: Robinow-Sorauf syndrome
ClinVar Annotator: match by OMIM:180750
OMIM
ClinVar
PMID:1240778 PMID:10465122 PMID:10749989 PMID:12791045 PMID:16251895 More... NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
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: Saethre-Chotzen syndrome
ClinVar Annotator: match by term: ACS III
ClinVar
OMIM
PMID:7558045 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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 chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Saethre-Chotzen syndrome
ClinVar Annotator: match by term: Saethre-Chotzen syndrome with eyelid anomalies
CTD
ClinVar
OMIM
PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 PMID:9934984 More... NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
JBrowse link
Scaphocephaly, Maxillary Retrusion, and Mental Retardation 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 mental retardation OMIM
ClinVar
PMID:7558045 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593
JBrowse link
G Sost sclerostin ISO DNA:transition: :69C>T (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:11179006 RGD:68858 NCBI chr10:86,912,517...86,915,561
Ensembl chr10:86,911,517...86,915,561
JBrowse link
sclerosteosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sost sclerostin ISO ClinVar Annotator: match by term: Sclerosteosis 1 ClinVar
OMIM
PMID:9712543 PMID:11179006 PMID:11181578 PMID:28492532 NCBI chr10:86,912,517...86,915,561
Ensembl chr10:86,911,517...86,915,561
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 ClinVar Annotator: match by term: Sclerosteosis 2
ClinVar Annotator: match by OMIM:614305
OMIM
ClinVar
PMID:7891385 PMID:11385236 PMID:21471202 PMID:24234652 PMID:28492532 NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593
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:28492532 NCBI chr 5:166,500,781...166,515,477
Ensembl chr 5:166,500,781...166,515,481
JBrowse link
G Actrt2 actin-related protein T2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,236,092...165,237,492
Ensembl chr 5:165,236,086...165,237,629
JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003
JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,398,359...166,400,616
Ensembl chr 5:166,397,748...166,400,953
JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482
JBrowse link
G Aurkaip1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,435,177...166,436,888
Ensembl chr 5:166,417,508...166,436,882
JBrowse link
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338
JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,551,628...166,556,003
Ensembl chr 5:166,551,628...166,556,003
JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,416,940...166,428,997 JBrowse link
G Cdk11b cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,212,761...166,238,883
Ensembl chr 5:166,212,829...166,238,876
JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,970,611...166,046,068
Ensembl chr 5:165,979,805...166,046,071
JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,474,947...166,479,103
Ensembl chr 5:166,474,966...166,479,017
JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
JBrowse link
G Faap20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,808,370...165,815,291
Ensembl chr 5:165,808,657...165,815,333
JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,299,587...166,311,477 JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
JBrowse link
G Hes5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,522,138...165,523,684
Ensembl chr 5:165,522,234...165,523,001
JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651
JBrowse link
G Kifbp kinesin family binding protein ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:15883926 PMID:23427148 PMID:24072599 NCBI chr20:30,512,899...30,532,504
Ensembl chr20:30,512,901...30,532,476
JBrowse link
G Mib2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,243,776...166,259,944
Ensembl chr 5:166,243,776...166,259,650
JBrowse link
G Mir200a microRNA 200a ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,648,494...166,648,582 JBrowse link
G Mir200b microRNA 200b ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366
JBrowse link
G Mir429 microRNA 429 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543
JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716
JBrowse link
G Mmp23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,239,643...166,242,734
Ensembl chr 5:166,239,644...166,242,433
JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,646,817...165,704,892
Ensembl chr 5:165,646,991...165,704,892
JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,408,962...166,413,492
Ensembl chr 5:166,408,962...166,413,492
JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,448,919...166,453,645
Ensembl chr 5:166,449,154...166,453,636
JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,145,708...166,176,328
Ensembl chr 5:166,145,481...166,176,322
JBrowse link
G Pank4 pantothenate kinase 4 (inactive) ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,525,340...165,542,139
Ensembl chr 5:165,525,402...165,542,135
JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356
JBrowse link
G Prkcz protein kinase C, zeta ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367
JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,462,610...165,465,213 JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,496,755...166,500,611
Ensembl chr 5:166,496,755...166,500,611
JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750
JBrowse link
G RGD1311517 similar to RIKEN cDNA 9430015G10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,701,485...166,719,939
Ensembl chr 5:166,701,676...166,719,955
JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,720,408...166,726,236 JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521
JBrowse link
G Ski SKI proto-oncogene ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:182212
OMIM
ClinVar
CTD
PMID:9536098 PMID:12419246 PMID:12857746 PMID:17576681 PMID:19112531 More... NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
JBrowse link
G Slc35e2b solute carrier family 35, member E2B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,185,166...166,211,055
Ensembl chr 5:166,185,166...166,207,021
JBrowse link
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,312,267...166,343,432
Ensembl chr 5:166,313,650...166,343,429
JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,469,589...166,472,742
Ensembl chr 5:166,469,589...166,472,742
JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,344,000...166,350,210 JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,048,667...166,050,423
Ensembl chr 5:166,046,565...166,050,433
JBrowse link
G Tmem88b transmembrane protein 88B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,391,080...166,393,904
Ensembl chr 5:166,391,080...166,393,904
JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703
JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599
JBrowse link
G Ttc34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:165,411,063...165,428,864
Ensembl chr 5:165,411,058...165,428,857
JBrowse link
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,630,147...166,644,114
Ensembl chr 5:166,630,152...166,653,707
JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2, J2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,533,374...166,547,811
Ensembl chr 5:166,533,418...166,547,804
JBrowse link
G Vwa1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:166,377,451...166,382,784
Ensembl chr 5:166,377,455...166,382,637
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 ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:272460
OMIM
ClinVar
CTD
RGD
PMID:14991055 PMID:18257094 PMID:18322662 PMID:18386804 PMID:20301736 More... RGD:12791028 NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome ClinVar PMID:25741868 PMID:29805041 NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
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 chr10:74,214,143...74,602,825 JBrowse link
G Nog noggin ISO ClinVar Annotator: match by term: STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES ClinVar
OMIM
PMID:9851982 PMID:10069712 PMID:11160400 PMID:11857750 PMID:12089654 More... NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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
ClinVar Annotator: match by term: Structural brain anomalies with impaired intellectual development and craniosynostosis
ClinVar
OMIM
PMID:26340333 PMID:30391508 NCBI chr 8:91,908,548...91,918,020
Ensembl chr 8:91,908,576...91,912,731
JBrowse link
syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cibar1 CBY1 interacting BAR domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30395363 NCBI chr 5:25,613,993...25,632,440
Ensembl chr 5:25,614,033...25,632,489
JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Non-syndromic syndactyly ClinVar PMID:15717203 PMID:18485326 PMID:25741868 PMID:28492532 NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750
JBrowse link
G Fbn2 fibrillin 2 ISO RGD PMID:11285249 RGD:1300320 NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976
JBrowse link
G Fzd4 frizzled class receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chr 1:143,280,065...143,288,799
Ensembl chr 1:143,280,065...143,285,724
JBrowse link
G Gdf5 growth differentiation factor 5 ISO DNA:insertion:cds: RGD PMID:18984342 RGD:12738203 NCBI chr 3:144,454,306...144,458,757
Ensembl chr 3:144,454,338...144,458,612
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Non-syndromic syndactyly ClinVar PMID:25741868 PMID:28492532 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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 chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
JBrowse link
G Hoxd13 homeo box D13 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
JBrowse link
G Irf6 interferon regulatory factor 6 ISO popliteal pterygium syndrome, OMIM:119500 RGD PMID:12219090 RGD:1600214 NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386
JBrowse link
G Jag2 jagged canonical Notch ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9531541 NCBI chr 6:131,983,056...132,005,359
Ensembl chr 6:131,983,056...132,005,818
JBrowse link
G Lrp4 LDL receptor related protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16207730 NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593
JBrowse link
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137
JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Non-syndromic syndactyly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:83,651,856...83,666,046
Ensembl chr 1:83,647,748...83,665,063
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 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
JBrowse link
G Nhej1 nonhomologous end-joining factor 1 ISO ClinVar Annotator: match by term: Syndactyly type 1 ClinVar NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444
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 ClinVar Annotator: match by term: Syndactyly type 3
ClinVar Annotator: match by OMIM:186100
OMIM
ClinVar
PMID:2157843 PMID:11470490 PMID:14729836 PMID:15192806 PMID:18079109 More... NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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 ClinVar Annotator: match by null OMIM
ClinVar
PMID:1849351 PMID:18417549 PMID:19847792 NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368
JBrowse link
G Shh sonic hedgehog signaling molecule ISO DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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 V ClinVar NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
JBrowse link
G Hoxd13 homeo box D13 ISO ClinVar Annotator: match by term: Syndactyly, type V
DNA:missense mutation:exon:p.Q317R (c.950A>G)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:186300
OMIM
ClinVar
CTD
RGD
PMID:9207113 PMID:15333588 PMID:16222680 PMID:17236141 PMID:24239177 More... RGD:12738470 NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
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 ClinVar Annotator: match by term: Metacarpal 4-5 fusion OMIM
ClinVar
PMID:23709756 PMID:24878828 NCBI chr  X:70,816,658...70,827,270
Ensembl chr  X:70,817,433...70,878,717
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:300707
OMIM
CTD
ClinVar
PMID:8818947 PMID:18297069 NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961
JBrowse link
synpolydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbln1 fibulin 1 ISS OMIM:186000 | OMIM:608180 | OMIM:610234 MouseDO NCBI chr 7:116,310,582...116,390,075
Ensembl chr 7:116,310,582...116,390,075
JBrowse link
G Hoxd13 homeo box D13 ISS OMIM:186000 | OMIM:608180 | OMIM:610234 MouseDO NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
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 1 ClinVar PMID:29514872 NCBI chr 7:20,524,535...20,743,008
Ensembl chr 7:20,528,100...20,743,111
JBrowse link
G Hoxd13 homeo box D13 severity ISO DNA:duplication:CDS
ClinVar Annotator: match by term: Synpolydactyly 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 Annotator: match by OMIM:186000
ClinVar
OMIM
CTD
RGD
PMID:7666393 PMID:8620844 PMID:8817328 PMID:9207113 PMID:9758628 More... RGD:1599534, RGD:12743595, RGD:12743592, RGD:11098998, RGD:12738399, RGD:11098055, RGD:11098032, RGD:12738377, RGD:12738375, RGD:11098288 NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
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 ClinVar Annotator: match by term: Synpolydactyly 2 OMIM
ClinVar
PMID:25741868 NCBI chr 7:116,310,582...116,390,075
Ensembl chr 7:116,310,582...116,390,075
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
DNA:missense mutation:cds:c.682T>G (p.C228G)(human)
ClinVar Annotator: match by OMIM:186570
OMIM
ClinVar
RGD
PMID:4019538 PMID:7557985 PMID:10080184 PMID:11545688 PMID:17245852 More... RGD:12801450 NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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 DNA:missense mutations:exon:p.G406R, p.G402S (human)
ClinVar Annotator: match by term: Timothy syndrome
ClinVar Annotator: match by term: Long QT syndrome 8
ClinVar Annotator: match by OMIM:601005
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:15454078 PMID:15863612 PMID:17224476 PMID:18250309 PMID:19074970 More... RGD:1580173 NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
JBrowse link
Treacher Collins syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcof1 treacle ribosome biogenesis factor 1 ISO
ISS
OMIM:154500 | OMIM:248390 | OMIM:613717
ClinVar Annotator: match by term: Treacher Collins Syndrome, Dominant
MouseDO
ClinVar
RGD
PMID:9096354 RGD:1599379 NCBI chr18:54,267,015...54,300,324
Ensembl chr18:54,267,026...54,300,324
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: Treacher Collins syndrome 1 OMIM
ClinVar
PMID:8563749 PMID:8894686 PMID:9042910 PMID:9096354 PMID:9536098