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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:ectodermal dysplasia
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Accession:DOID:2121 term browser browse the term
Definition:A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. (DO)
Synonyms:exact_synonym: ACC;   anhidrotic ectodermal dysplasia;   anhidrotic ectodermal dysplasias;   anhydrotic ectodermal dysplasia;   anhydrotic ectodermal dysplasias;   aplasia cutis congenita;   congenital ectodermal defect;   congenital ectodermal defects;   congenital ectodermal dysplasia;   ectodermal dysplasias;   hidrotic ectodermal dysplasia;   hidrotic ectodermal dysplasias;   hydrotic ectodermal dysplasia;   hydrotic ectodermal dysplasias
 narrow_synonym: hypohidrotic ectodermal dysplasia, dominant;   hypohidrotic ectodermal dysplasia, recessive
 primary_id: MESH:D004476
 alt_id: OMIA:000323
 xref: GARD:6317;   ICD9CM:757.31;   NCI:C84683;   OMIM:PS305100;   ORDO:79373
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
ectodermal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Aplasia cutis congenita ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr 3:89,622,321...89,660,756
Ensembl chr 3:89,622,329...89,660,753 		JBrowse link
G Bms1 BMS1, ribosome biogenesis factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aplasia cutis congenita		 CTD
ClinVar		 PMID:23785305 PMID:25741868 NCBI chr 6:118,360,342...118,396,772
Ensembl chr 6:118,360,342...118,396,435 		JBrowse link
G Cryl1 crystallin, lambda 1 ISO ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia ClinVar PMID:27480936 PMID:28492532 NCBI chr14:57,512,491...57,635,940
Ensembl chr14:57,512,450...57,635,986 		JBrowse link
G Eda ectodysplasin-A ISO ClinVar Annotator: match by term: Anhidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal dysplasia ClinVar PMID:9736768 PMID:11279189 PMID:11416205 PMID:15663448 PMID:18231121 More... NCBI chr  X:99,019,212...99,444,366
Ensembl chr  X:99,019,212...99,444,368 		JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Dominant ClinVar PMID:16435307 PMID:18065779 PMID:18561327 PMID:18704500 PMID:18816645 More... NCBI chr10:58,436,602...58,511,518
Ensembl chr10:58,436,611...58,511,476 		JBrowse link
G Edaradd EDAR associated via death domain ISO ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr13:12,486,090...12,535,413
Ensembl chr13:12,487,513...12,535,319 		JBrowse link
G Eef1akmt1 EEF1A alpha lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr14:57,787,052...57,809,039
Ensembl chr14:57,787,054...57,809,069 		JBrowse link
G Gja3 gap junction protein, alpha 3 ISO ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr14:57,271,917...57,295,487
Ensembl chr14:57,271,917...57,295,557 		JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159 		JBrowse link
G Gjb6 gap junction protein, beta 6 ISO DNA:missense mutations
ClinVar Annotator: match by term: Hidrotic Ectodermal Dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia
ClinVar Annotator: match by term: Hidrotic Ectodermal Dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Dominant | ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Recessive
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 PMID:11896458 More... RGD:1599828 NCBI chr14:57,360,760...57,370,764
Ensembl chr14:57,360,760...57,371,068 		JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr14:57,661,519...57,755,393
Ensembl chr14:57,661,519...57,755,393 		JBrowse link
G Il17d interleukin 17D ISO ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr14:57,762,197...57,780,623
Ensembl chr14:57,762,234...57,780,623 		JBrowse link
G Itgb4 integrin beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18348258 NCBI chr11:115,865,556...115,899,238
Ensembl chr11:115,865,535...115,899,238 		JBrowse link
G Krt16 keratin 16 susceptibility ISO protein:mutation: ; L130P; pachyonychia congenita, OMIM:167200 RGD PMID:7539673 RGD:1600184 NCBI chr11:100,136,917...100,139,728
Ensembl chr11:100,136,917...100,139,728 		JBrowse link
G Krt17 keratin 17 susceptibility ISO protein:mutation: ; N92D; pachyonychia congenita, OMIM:167210 RGD PMID:7539673 RGD:1600184 NCBI chr11:100,147,041...100,151,855
Ensembl chr11:100,147,043...100,151,855 		JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 RGD PMID:10932188 RGD:1599795 NCBI chr 9:43,655,251...43,718,758
Ensembl chr 9:43,655,281...43,743,955 		JBrowse link
G Pkp1 plakophilin 1 ISO RGD PMID:9326952 RGD:1599084 NCBI chr 1:135,799,132...135,846,945
Ensembl chr 1:135,799,133...135,846,945 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Dominant ClinVar PMID:16435307 PMID:18065779 PMID:18561327 PMID:18704500 PMID:18816645 More... NCBI chr10:58,282,674...58,329,977
Ensembl chr10:58,282,742...58,330,178 		JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31570889 NCBI chr 9:108,183,359...108,215,142
Ensembl chr 9:108,183,328...108,215,133 		JBrowse link
G Trp63 transformation related protein 63 ISO DNA:missense mutation:exon:p.K193E (577A>G) (human) RGD PMID:22574117 RGD:11568633 NCBI chr16:25,502,513...25,710,842
Ensembl chr16:25,502,513...25,710,852 		JBrowse link
G Wnt10a wingless-type MMTV integration site family, member 10A ISO ClinVar Annotator: match by term: Ectodermal dysplasia ClinVar PMID:17847007 PMID:19559398 PMID:20979233 PMID:21279306 PMID:21484994 More... NCBI chr 1:74,831,178...74,843,335
Ensembl chr 1:74,830,675...74,843,338 		JBrowse link
G Xpo4 exportin 4 ISO ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr14:57,814,978...57,906,951
Ensembl chr14:57,814,978...57,902,887 		JBrowse link
ACCES Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uba2 ubiquitin-like modifier activating enzyme 2 ISO ClinVar Annotator: match by term: ACCES syndrome | ClinVar Annotator: match by term: APLASIA CUTIS CONGENITA WITH ECTRODACTYLY SKELETAL SYNDROME ClinVar
OMIM		 PMID:11920840 PMID:25741868 PMID:28110515 PMID:28492532 PMID:31332306 More... NCBI chr 7:33,840,121...33,868,014
Ensembl chr 7:33,840,113...33,869,024 		JBrowse link
Adams-Oliver syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap31 Rho GTPase activating protein 31 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adams-Oliver syndrome		 CTD
ClinVar		 PMID:28492532 NCBI chr16:38,418,705...38,533,397
Ensembl chr16:38,418,702...38,533,636 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 ISO
IAGP
IMP		 CTD Direct Evidence: marker/mechanism
OMIM:100300 | OMIM:614219 | OMIM:614814 | OMIM:615297 | OMIM:616028
ClinVar Annotator: match by term: Adams-Oliver syndrome		 CTD
MouseDO
ClinVar
RGD		 PMID:26299364 PMID:29924900 PMID:33899511 RGD:155663357 NCBI chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443 		JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adams-Oliver syndrome
DNA:mutations:cds:		 CTD
ClinVar
RGD		 PMID:21820096 PMID:24033266 PMID:25558065 PMID:25741868 PMID:25824905 More... RGD:155791566 NCBI chr 9:21,711,476...21,764,006
Ensembl chr 9:21,711,156...21,763,931 		JBrowse link
G Eogt EGF domain specific O-linked N-acetylglucosamine transferase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adams-Oliver syndrome		 CTD
ClinVar		 PMID:23522784 PMID:25558065 PMID:25741868 NCBI chr 6:97,086,977...97,128,445
Ensembl chr 6:97,086,985...97,126,143 		JBrowse link
G Notch1 notch 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adams-Oliver syndrome		 CTD
ClinVar		 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675 		JBrowse link
G Rbpj recombination signal binding protein for immunoglobulin kappa J region ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:53,713,121...53,814,787
Ensembl chr 5:53,623,494...53,814,704 		JBrowse link
Adams-Oliver Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap31 Rho GTPase activating protein 31 ISO ClinVar Annotator: match by term: ARHGAP31-related condition | ClinVar Annotator: match by term: Adams-Oliver syndrome 1 OMIM
ClinVar		 PMID:474617 PMID:16451141 PMID:21565291 PMID:24033266 PMID:25741868 More... NCBI chr16:38,418,705...38,533,397
Ensembl chr16:38,418,702...38,533,636 		JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 1 ClinVar PMID:21820096 PMID:25741868 PMID:25824905 PMID:26457590 PMID:28492532 More... NCBI chr 9:21,711,476...21,764,006
Ensembl chr 9:21,711,156...21,763,931 		JBrowse link
Adams-Oliver Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 2 | ClinVar Annotator: match by term: DOCK6-related condition OMIM
ClinVar		 PMID:8849019 PMID:9536098 PMID:16199547 PMID:17159513 PMID:17576681 More... NCBI chr 9:21,711,476...21,764,006
Ensembl chr 9:21,711,156...21,763,931 		JBrowse link
G Notch1 notch 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 2 ClinVar PMID:18593716 PMID:20951801 PMID:20981092 PMID:25741868 PMID:28492532 More... NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675 		JBrowse link
Adams-Oliver Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbpj recombination signal binding protein for immunoglobulin kappa J region ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 3 OMIM
ClinVar		 PMID:22883147 PMID:25741868 PMID:28492532 PMID:29924900 NCBI chr 5:53,713,121...53,814,787
Ensembl chr 5:53,623,494...53,814,704 		JBrowse link
Adams-Oliver Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eogt EGF domain specific O-linked N-acetylglucosamine transferase ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 4 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23522784 PMID:23860037 More... NCBI chr 6:97,086,977...97,128,445
Ensembl chr 6:97,086,985...97,126,143 		JBrowse link
Adams-Oliver Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca2 ATP-binding cassette, sub-family A member 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,318,611...25,338,556
Ensembl chr 2:25,318,715...25,338,552 		JBrowse link
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:26,483,069...26,494,429
Ensembl chr 2:26,483,069...26,494,429 		JBrowse link
G Ajm1 apical junction component 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,465,428...25,471,760
Ensembl chr 2:25,465,428...25,471,769 		JBrowse link
G Anapc2 anaphase promoting complex subunit 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,162,469...25,175,928
Ensembl chr 2:25,162,490...25,175,927 		JBrowse link
G Arrdc1 arrestin domain containing 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:24,815,364...24,825,347
Ensembl chr 2:24,815,364...24,825,264 		JBrowse link
G C8g complement component 8, gamma polypeptide ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,388,662...25,391,731
Ensembl chr 2:25,388,663...25,391,731 		JBrowse link
G Cacna1b calcium channel, voltage-dependent, N type, alpha 1B subunit ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:24,493,872...24,653,210
Ensembl chr 2:24,493,899...24,653,164 		JBrowse link
G Camsap1 calmodulin regulated spectrin-associated protein 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,816,850...25,873,574
Ensembl chr 2:25,816,850...25,873,294 		JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:26,242,199...26,250,957
Ensembl chr 2:26,242,188...26,250,930 		JBrowse link
G Ccdc183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,498,641...25,507,690
Ensembl chr 2:25,498,647...25,507,690 		JBrowse link
G Cimip2a ciliary microtubule inner protein 2A ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,104,382...25,112,293
Ensembl chr 2:25,108,757...25,112,292 		JBrowse link
G Clic3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,346,855...25,348,789
Ensembl chr 2:25,346,850...25,348,788 		JBrowse link
G Col5a1 collagen, type V, alpha 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:28492532 PMID:29907982 NCBI chr 2:27,776,393...27,929,522
Ensembl chr 2:27,776,437...27,929,526 		JBrowse link
G Cysrt1 cysteine rich tail 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,128,831...25,129,876
Ensembl chr 2:25,128,830...25,132,464 		JBrowse link
G Dipk1b divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:26,518,469...26,526,509
Ensembl chr 2:26,518,469...26,526,509 		JBrowse link
G Dnlz DNL-type zinc finger ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:26,238,130...26,242,122
Ensembl chr 2:26,238,133...26,242,122 		JBrowse link
G Dph7 diphthamine biosynethesis 7 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:24,852,183...24,862,198
Ensembl chr 2:24,852,412...24,862,175 		JBrowse link
G Dpp7 dipeptidylpeptidase 7 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,242,302...25,246,365
Ensembl chr 2:25,242,288...25,246,371 		JBrowse link
G Edf1 endothelial differentiation-related factor 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,447,838...25,452,096
Ensembl chr 2:25,447,859...25,452,094 		JBrowse link
G Egfl7 EGF-like domain 7 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:26,471,095...26,482,694
Ensembl chr 2:26,470,026...26,483,132 		JBrowse link
G Ehmt1 euchromatic histone methyltransferase 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:24,680,781...24,809,658
Ensembl chr 2:24,679,940...24,809,626 		JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,285,886...25,291,335
Ensembl chr 2:25,285,886...25,291,333 		JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:24,969,308...24,975,731
Ensembl chr 2:24,970,316...24,975,728 		JBrowse link
G Entr1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:26,272,810...26,279,352
Ensembl chr 2:26,272,814...26,279,328 		JBrowse link
G Fbxw5 F-box and WD-40 domain protein 5 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,390,762...25,395,482
Ensembl chr 2:25,390,762...25,395,483 		JBrowse link
G Fcnb ficolin B ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:28492532 PMID:29907982 NCBI chr 2:27,966,491...27,974,921
Ensembl chr 2:27,966,390...27,974,897 		JBrowse link
G Fut7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,312,363...25,316,386
Ensembl chr 2:25,313,279...25,316,386 		JBrowse link
G Glt6d1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,673,474...25,705,908
Ensembl chr 2:25,683,871...25,705,860 		JBrowse link
G Gpsm1 G-protein signalling modulator 1 (AGS3-like, C. elegans) ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:26,204,623...26,238,249
Ensembl chr 2:26,205,527...26,238,249 		JBrowse link
G Grin1 glutamate receptor, ionotropic, NMDA1 (zeta 1) ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,181,189...25,209,199
Ensembl chr 2:25,181,193...25,209,199 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:26,286,261...26,299,313
Ensembl chr 2:26,286,261...26,299,215 		JBrowse link
G Kcnt1 potassium channel, subfamily T, member 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,753,807...25,808,285
Ensembl chr 2:25,753,746...25,808,285 		JBrowse link
G Lcn10 lipocalin 10 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,572,738...25,576,093
Ensembl chr 2:25,572,738...25,576,093 		JBrowse link
G Lcn11 lipocalin 11 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,667,029...25,670,291
Ensembl chr 2:25,667,029...25,670,291 		JBrowse link
G Lcn12 lipocalin 12 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,380,857...25,384,073
Ensembl chr 2:25,380,857...25,383,923 		JBrowse link
G Lcn15 lipocalin 15 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,534,156...25,538,813 JBrowse link
G Lcn3 lipocalin 3 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,655,545...25,658,110
Ensembl chr 2:25,655,581...25,658,111 		JBrowse link
G Lcn6 lipocalin 6 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,566,650...25,571,620
Ensembl chr 2:25,566,798...25,571,620 		JBrowse link
G Lcn8 lipocalin 8 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,543,130...25,546,229
Ensembl chr 2:25,543,132...25,546,229 		JBrowse link
G Lcn9 lipocalin 9 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,713,100...25,715,558
Ensembl chr 2:25,713,165...25,715,549 		JBrowse link
G Lhx3 LIM homeobox protein 3 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:26,090,224...26,098,261
Ensembl chr 2:26,090,224...26,098,301 		JBrowse link
G Lrrc26 leucine rich repeat containing 26 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,179,923...25,181,205
Ensembl chr 2:25,179,927...25,181,192 		JBrowse link
G Mamdc4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,453,124...25,461,328
Ensembl chr 2:25,453,127...25,464,857 		JBrowse link
G Man1b1 mannosidase, alpha, class 1B, member 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,222,742...25,242,225
Ensembl chr 2:25,222,350...25,242,224 		JBrowse link
G Mir126a microRNA 126a ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:26,481,369...26,481,441
Ensembl chr 2:26,481,369...26,481,441 		JBrowse link
G Mrpl41 mitochondrial ribosomal protein L41 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:24,862,482...24,865,110
Ensembl chr 2:24,864,129...24,865,110 		JBrowse link
G Mrps2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:28,355,963...28,361,189
Ensembl chr 2:28,358,078...28,361,190 		JBrowse link
G Nacc2 nucleus accumbens associated 2, BEN and BTB (POZ) domain containing ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,945,547...26,012,823
Ensembl chr 2:25,945,547...26,013,232 		JBrowse link
G Ndor1 NADPH dependent diflavin oxidoreductase 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,134,825...25,145,458
Ensembl chr 2:25,134,833...25,146,034
Ensembl chr 2:25,134,833...25,146,034
Ensembl chr 2:25,134,833...25,146,034 		JBrowse link
G Nelfb negative elongation factor complex member B ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,089,724...25,101,501
Ensembl chr 2:25,089,724...25,101,501 		JBrowse link
G Notch1 notch 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 OMIM
ClinVar		 PMID:1621771 PMID:3495735 PMID:4750422 PMID:9536098 PMID:12774039 More... NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675 		JBrowse link
G Noxa1 NADPH oxidase activator 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:24,975,679...24,985,217
Ensembl chr 2:24,975,679...24,985,161 		JBrowse link
G Npdc1 neural proliferation, differentiation and control 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,293,067...25,299,504
Ensembl chr 2:25,289,363...25,299,506 		JBrowse link
G Nrarp Notch-regulated ankyrin repeat protein ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,070,770...25,073,351
Ensembl chr 2:25,070,770...25,073,351 		JBrowse link
G Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:24,944,370...24,952,893
Ensembl chr 2:24,944,367...24,952,893 		JBrowse link
G Obp2a odorant binding protein 2A ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,587,589...25,593,338
Ensembl chr 2:25,590,055...25,593,338 		JBrowse link
G Olfm1 olfactomedin 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:28492532 PMID:29907982 NCBI chr 2:28,083,105...28,120,748
Ensembl chr 2:28,083,004...28,120,748 		JBrowse link
G Paxx non-homologous end joining factor ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,345,132...25,352,666
Ensembl chr 2:25,345,153...25,351,106 		JBrowse link
G Phpt1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,463,442...25,465,528
Ensembl chr 2:25,463,442...25,465,236 		JBrowse link
G Pierce1 piercer of microtubule wall 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:28492532 PMID:29907982 NCBI chr 2:28,352,013...28,356,336
Ensembl chr 2:28,352,013...28,356,344 		JBrowse link
G Pmpca peptidase (mitochondrial processing) alpha ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:26,275,554...26,287,134
Ensembl chr 2:26,279,351...26,287,134 		JBrowse link
G Pnpla7 patatin-like phospholipase domain containing 7 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:24,865,235...24,944,084
Ensembl chr 2:24,866,045...24,944,069 		JBrowse link
G Ppp1r26 protein phosphatase 1, regulatory subunit 26 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:28492532 PMID:29907982 NCBI chr 2:28,336,613...28,345,520
Ensembl chr 2:28,336,812...28,345,520 		JBrowse link
G Ptgds prostaglandin D2 synthase (brain) ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,356,723...25,360,080
Ensembl chr 2:25,356,721...25,360,058 		JBrowse link
G Qsox2 quiescin Q6 sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:26,099,136...26,127,411
Ensembl chr 2:26,098,649...26,127,537 		JBrowse link
G Rabl6 RAB, member RAS oncogene family-like 6 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,473,029...25,498,493
Ensembl chr 2:25,473,030...25,498,533 		JBrowse link
G Rnf208 ring finger protein 208 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,132,941...25,134,273
Ensembl chr 2:25,132,941...25,134,274 		JBrowse link
G Rnf224 ring finger protein 224 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,124,487...25,126,799
Ensembl chr 2:25,124,488...25,126,799 		JBrowse link
G Sapcd2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,261,974...25,268,225
Ensembl chr 2:25,262,333...25,268,225 		JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:26,299,443...26,336,138
Ensembl chr 2:26,299,443...26,335,228 		JBrowse link
G Slc34a3 solute carrier family 34 (sodium phosphate), member 3 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,118,909...25,124,282
Ensembl chr 2:25,118,910...25,124,376 		JBrowse link
G Snapc4 small nuclear RNA activating complex, polypeptide 4 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:26,252,777...26,270,666
Ensembl chr 2:26,252,777...26,270,665 		JBrowse link
G Snhg7 small nucleolar RNA host gene 7 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:26,527,188...26,530,256
Ensembl chr 2:26,527,180...26,530,295 		JBrowse link
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,733,007...25,737,347
Ensembl chr 2:25,733,007...25,737,260 		JBrowse link
G Ssna1 SS nuclear autoantigen 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,161,051...25,162,430
Ensembl chr 2:25,161,051...25,162,450 		JBrowse link
G Stpg3 sperm tail PG rich repeat containing 3 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,102,219...25,108,680
Ensembl chr 2:25,102,219...25,104,649 		JBrowse link
G Tmem141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,510,078...25,512,059
Ensembl chr 2:25,510,079...25,512,017 		JBrowse link
G Tmem203 transmembrane protein 203 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,145,451...25,146,364
Ensembl chr 2:25,145,451...25,146,304 		JBrowse link
G Tmem210 transmembrane protein 210 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,178,153...25,179,201
Ensembl chr 2:25,178,157...25,179,201 		JBrowse link
G Tmem250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:26,026,819...26,030,518
Ensembl chr 2:26,026,826...26,030,533 		JBrowse link
G Tor4a torsin family 4, member A ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,082,732...25,086,825
Ensembl chr 2:25,082,978...25,086,898 		JBrowse link
G Tprn taperin ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,152,610...25,159,898
Ensembl chr 2:25,152,630...25,159,897 		JBrowse link
G Traf2 TNF receptor-associated factor 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,407,994...25,436,952
Ensembl chr 2:25,407,994...25,436,952 		JBrowse link
G Tubb4b tubulin, beta 4B class IVB ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,112,170...25,114,714
Ensembl chr 2:25,112,172...25,114,714 		JBrowse link
G Uap1l1 UDP-N-acteylglucosamine pyrophosphorylase 1-like 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,251,501...25,255,695
Ensembl chr 2:25,249,901...25,255,694 		JBrowse link
G Ubac1 ubiquitin associated domain containing 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,886,970...25,911,793
Ensembl chr 2:25,888,555...25,911,759 		JBrowse link
G Zmynd19 zinc finger, MYND domain containing 19 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:24,839,789...24,850,882
Ensembl chr 2:24,839,804...24,852,087 		JBrowse link
Adams-Oliver Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dll4 delta like canonical Notch ligand 4 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 6 | ClinVar Annotator: match by term: DLL4-related condition OMIM
ClinVar		 PMID:616589 PMID:25741868 PMID:26299364 PMID:28492532 PMID:29924900 More... NCBI chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443 		JBrowse link
ADULT syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trp63 transformation related protein 63 ISO ClinVar Annotator: match by term: ADULT syndrome | ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8456838 PMID:8737655 PMID:9443880 PMID:9536098 PMID:11462173 More... NCBI chr16:25,502,513...25,710,842
Ensembl chr16:25,502,513...25,710,852 		JBrowse link
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trp63 transformation related protein 63 ISO
IAGP		 ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate | ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
OMIM:106260
DNA:missense mutations:exon:multiple
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:9774969 PMID:10886756 PMID:11159940 PMID:15200513 More... RGD:11568643 NCBI chr16:25,502,513...25,710,842
Ensembl chr16:25,502,513...25,710,852 		JBrowse link
Arthrogryposis and Ectodermal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otof otoferlin ISO ClinVar Annotator: match by term: Trichooculodermovertebral syndrome ClinVar PMID:16199547 PMID:18381613 PMID:19250381 PMID:22575033 PMID:28492532 More... NCBI chr 5:30,524,410...30,620,073
Ensembl chr 5:30,524,406...30,619,276 		JBrowse link
asphyxiating thoracic dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 ClinVar PMID:26077881 NCBI chr17:84,965,602...84,990,439
Ensembl chr17:84,965,662...84,990,439 		JBrowse link
G Csrnp3 cysteine-serine-rich nuclear protein 3 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:65,675,628...65,866,958
Ensembl chr 2:65,676,111...65,861,890 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 | ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:26874042 More... NCBI chr 9:6,928,550...7,177,619
Ensembl chr 9:6,928,503...7,184,446 		JBrowse link
G Dync2i1 dynein 2 intermediate chain 1 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29068549 NCBI chr12:116,169,881...116,226,665
Ensembl chr12:116,169,882...116,226,642 		JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 ClinVar PMID:9536098 PMID:17576681 PMID:26077881 PMID:26130459 PMID:28492532 More... NCBI chr17:84,933,903...84,962,996
Ensembl chr17:84,933,924...84,963,016 		JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:19251731 PMID:25741868 PMID:28492532 PMID:29068549 NCBI chr 5:37,495,801...37,582,399
Ensembl chr 5:37,495,843...37,582,399 		JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:65,913,110...65,955,217
Ensembl chr 2:65,913,110...65,955,338 		JBrowse link
G Ift140 intraflagellar transport 140 IAGP OMIM:208500 MouseDO NCBI chr17:25,235,056...25,318,461
Ensembl chr17:25,235,059...25,318,469 		JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:31,410,623...31,448,458
Ensembl chr 5:31,410,621...31,448,460 		JBrowse link
G Ift80 intraflagellar transport 80 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29068549 NCBI chr 3:68,799,832...68,911,939
Ensembl chr 3:68,799,832...68,911,892 		JBrowse link
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28600779 PMID:29068549 NCBI chr 1:181,642,880...181,669,933
Ensembl chr 1:181,642,900...181,670,611 		JBrowse link
G Nek1 NIMA (never in mitosis gene a)-related expressed kinase 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 ClinVar PMID:25741868 NCBI chr 8:61,446,184...61,584,383
Ensembl chr 8:61,446,229...61,584,380 		JBrowse link
G Rab34 RAB34, member RAS oncogene family ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:25741868 PMID:37619988 NCBI chr11:78,079,253...78,083,019
Ensembl chr11:78,079,256...78,083,019 		JBrowse link
G Scn1a sodium channel, voltage-gated, type I, alpha ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:66,101,125...66,271,181
Ensembl chr 2:66,101,122...66,271,184 		JBrowse link
G Scn2a sodium channel, voltage-gated, type II, alpha ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:65,451,108...65,597,791
Ensembl chr 2:65,451,115...65,597,791 		JBrowse link
G Scn3a sodium channel, voltage-gated, type III, alpha ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:65,287,462...65,397,935
Ensembl chr 2:65,288,607...65,397,971 		JBrowse link
G Scn9a sodium channel, voltage-gated, type IX, alpha ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:66,310,424...66,465,456
Ensembl chr 2:66,310,424...66,465,306 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome | ClinVar Annotator: match by term: Infantile thoracic dystrophy		 CTD
ClinVar		 PMID:9536098 PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 More... NCBI chr 2:66,014,131...66,087,144
Ensembl chr 2:66,014,671...66,086,961 		JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:22019273 PMID:23559409 PMID:23683095 PMID:25741868 PMID:26275793 More... NCBI chr 5:65,357,039...65,417,758
Ensembl chr 5:65,357,039...65,417,758 		JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:28332779 More... NCBI chr12:9,023,897...9,078,848
Ensembl chr12:9,023,892...9,078,847 		JBrowse link
asphyxiating thoracic dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift80 intraflagellar transport 80 ISO
IAGP		 ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY
CTD Direct Evidence: marker/mechanism
OMIM:611263		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:16199547 PMID:17468754 PMID:17576681 PMID:19610081 More... NCBI chr 3:68,799,832...68,911,939
Ensembl chr 3:68,799,832...68,911,892 		JBrowse link
ataxia telangiectasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2310030G06Rik RIKEN cDNA 2310030G06 gene ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,650,991...50,657,827
Ensembl chr 9:50,650,991...50,657,836 		JBrowse link
G 4930550C14Rik RIKEN cDNA 4930550C14 gene ISO ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome
ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia		 ClinVar PMID:100011 PMID:581456 PMID:622825 PMID:988733 PMID:1065243 More... NCBI chr 9:53,313,814...53,345,726
Ensembl chr 9:53,313,625...53,345,702 		JBrowse link
G Aasdhppt aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:4,294,793...4,309,656
Ensembl chr 9:4,294,793...4,309,471 		JBrowse link
G Acat1 acetyl-Coenzyme A acetyltransferase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:53,491,822...53,521,650
Ensembl chr 9:53,491,822...53,521,682 		JBrowse link
G AI593442 expressed sequence AI593442 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:52,584,332...52,593,434
Ensembl chr 9:52,584,342...52,591,080 		JBrowse link
G Alg9 ALG9 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,686,570...50,754,939
Ensembl chr 9:50,686,319...50,754,842 		JBrowse link
G Alkbh8 alkB homolog 8, tRNA methyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:3,335,151...3,391,154
Ensembl chr 9:3,335,140...3,391,154 		JBrowse link
G Amotl1 angiomotin-like 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:14,453,262...14,574,408
Ensembl chr 9:14,453,262...14,556,352 		JBrowse link
G Ankrd49 ankyrin repeat domain 49 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:14,690,916...14,695,869
Ensembl chr 9:14,690,914...14,696,152 		JBrowse link
G Arhgap20 Rho GTPase activating protein 20 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:51,676,651...51,765,158
Ensembl chr 9:51,676,637...51,765,156 		JBrowse link
G Arhgap42 Rho GTPase activating protein 42 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:8,992,508...9,239,032
Ensembl chr 9:8,994,330...9,239,106 		JBrowse link
G Atm ataxia telangiectasia mutated IMP
ISO
IAGP		 ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome
OMIM:208900
DNA:deletion:exon:
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
MouseDO
CTD
RGD		 PMID:100011 PMID:133608 PMID:581456 PMID:622825 PMID:623656 More... RGD:10053611, RGD:12879399 NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040 		JBrowse link
G Bak1 BCL2-antagonist/killer 1 ISO DNA:mutation:exon:c.342C>T(human) RGD PMID:19898928 RGD:14394817 NCBI chr17:27,238,786...27,247,601
Ensembl chr17:27,238,784...27,247,983 		JBrowse link
G Bax BCL2-associated X protein susceptibility ISO DNA:mutations:introns:IVS1146C>T, IVS3+14A>G(human) RGD PMID:19898928 RGD:14394817 NCBI chr 7:45,111,124...45,116,332
Ensembl chr 7:45,111,121...45,116,322 		JBrowse link
G Bik BCL2-interacting killer susceptibility ISO DNA:deletion:intron:IVS4-12delTC(human) RGD PMID:19898928 RGD:14394817 NCBI chr15:83,410,992...83,428,836
Ensembl chr15:83,411,063...83,428,835 		JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,818,227...7,837,123
Ensembl chr 9:7,818,228...7,837,065 		JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,848,698...7,873,199
Ensembl chr 9:7,848,700...7,873,187 		JBrowse link
G Braf Braf transforming gene ISO ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:16439621 PMID:16474404 PMID:18039235 PMID:18413255 PMID:18953432 More... NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397 		JBrowse link
G Btg4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:51,013,486...51,031,224
Ensembl chr 9:50,972,201...51,031,175 		JBrowse link
G Casp1 caspase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:5,298,517...5,307,281
Ensembl chr 9:5,298,508...5,307,290 		JBrowse link
G Casp12 caspase 12 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:5,345,419...5,373,034
Ensembl chr 9:5,345,430...5,373,032 		JBrowse link
G Casp4 caspase 4, apoptosis-related cysteine peptidase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:5,308,816...5,336,791
Ensembl chr 9:5,308,828...5,336,783 		JBrowse link
G Ccdc82 coiled-coil domain containing 82 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:13,246,573...13,292,867
Ensembl chr 9:13,246,536...13,292,867 		JBrowse link
G Cep126 centrosomal protein 126 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:8,076,461...8,134,473
Ensembl chr 9:8,076,462...8,134,295 		JBrowse link
G Cep57 centrosomal protein 57 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:13,717,979...13,738,698
Ensembl chr 9:13,719,088...13,738,403 		JBrowse link
G Cfap300 cilia and flagella associated protein 300 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:8,021,673...8,042,876
Ensembl chr 9:8,021,673...8,042,824 		JBrowse link
G Cfap68 cilia and flagella associated protein 68 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,672,674...50,679,536
Ensembl chr 9:50,674,128...50,686,820 		JBrowse link
G Cntn5 contactin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:9,627,928...10,904,992
Ensembl chr 9:9,660,896...10,904,780 		JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,657,251...50,667,936
Ensembl chr 9:50,662,625...50,667,936 		JBrowse link
G Cul5 cullin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:53,525,881...53,578,807
Ensembl chr 9:53,525,882...53,581,314 		JBrowse link
G Cwc15 CWC15 spliceosome-associated protein ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:14,411,876...14,421,920
Ensembl chr 9:14,411,913...14,421,873 		JBrowse link
G Cwf19l2 CWF19 like cell cycle control factor 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:3,403,592...3,479,236
Ensembl chr 9:3,403,592...3,479,236 		JBrowse link
G Dcun1d5 defective in cullin neddylation 1 domain containing 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,176,590...7,220,880
Ensembl chr 9:7,184,520...7,208,205 		JBrowse link
G Ddi1 DNA-damage inducible 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:6,265,028...6,266,547
Ensembl chr 9:6,262,733...6,269,846 		JBrowse link
G Ddx10 DEAD box helicase 10 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:53,009,754...53,159,423
Ensembl chr 9:53,009,935...53,159,353 		JBrowse link
G Dixdc1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,574,052...50,650,900
Ensembl chr 9:50,574,052...50,650,817 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,545,933...50,571,080
Ensembl chr 9:50,545,933...50,571,080 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:6,928,550...7,177,619
Ensembl chr 9:6,928,503...7,184,446 		JBrowse link
G Elmod1 ELMO/CED-12 domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:53,818,741...53,882,628
Ensembl chr 9:53,818,741...53,882,585 		JBrowse link
G Endod1 endonuclease domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:14,265,286...14,292,538
Ensembl chr 9:14,265,286...14,292,803 		JBrowse link
G Exph5 exophilin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:53,212,814...53,292,466
Ensembl chr 9:53,212,970...53,288,814 		JBrowse link
G Fam76b family with sequence similarity 76, member B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:13,738,490...13,766,033
Ensembl chr 9:13,739,012...13,766,283 		JBrowse link
G Fdx1 ferredoxin 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:51,854,323...51,874,902
Ensembl chr 9:51,854,606...51,874,856 		JBrowse link
G Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,679,538...50,683,981
Ensembl chr 9:50,679,536...50,684,648 		JBrowse link
G Fut4 fucosyltransferase 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:14,659,755...14,663,418
Ensembl chr 9:14,659,616...14,663,689 		JBrowse link
G Gm19324 predicted gene, 19324 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:8,142,542...8,181,113
Ensembl chr 9:8,142,596...8,185,168 		JBrowse link
G Gria4 glutamate receptor, ionotropic, AMPA4 (alpha 4) ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:4,417,893...4,796,250
Ensembl chr 9:4,417,896...4,796,234 		JBrowse link
G Gucy1a2 guanylate cyclase 1, soluble, alpha 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:3,532,349...3,905,791
Ensembl chr 9:3,532,778...3,894,736 		JBrowse link
G Hdac4 histone deacetylase 4 treatment ISO
IEP		 protein:altered localization:nucleus: RGD PMID:22466704 PMID:22466704 PMID:22466704 RGD:9681455, RGD:9681455, RGD:9681455 NCBI chr 1:91,856,501...92,123,424
Ensembl chr 1:91,856,501...92,123,421 		JBrowse link
G Hoatz HOATZ cilia and flagella associated protein ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,992,610...51,017,183
Ensembl chr 9:50,992,415...51,013,378 		JBrowse link
G Hspb2 heat shock protein 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,662,372...50,663,654
Ensembl chr 9:50,662,378...50,663,654 		JBrowse link
G Ifng interferon gamma ISO RGD PMID:6432389 RGD:8693328 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:6432389 RGD:8693328 NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108 		JBrowse link
G Il6 interleukin 6 severity ISO RGD PMID:26851119 RGD:11529801 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Jrkl Jrk-like ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:13,242,795...13,245,746
Ensembl chr 9:13,242,612...13,245,834 		JBrowse link
G Kbtbd3 kelch repeat and BTB (POZ) domain containing 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:4,309,743...4,331,829
Ensembl chr 9:4,309,833...4,331,732 		JBrowse link
G Kdm4d lysine (K)-specific demethylase 4D ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:14,373,844...14,411,818
Ensembl chr 9:14,373,844...14,411,778 		JBrowse link
G Layn layilin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,966,323...50,988,501
Ensembl chr 9:50,965,940...50,988,394 		JBrowse link
G Maml2 mastermind like transcriptional coactivator 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:13,296,547...13,620,829
Ensembl chr 9:13,298,306...13,620,684 		JBrowse link
G Mir34b microRNA 34b ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:51,014,862...51,014,945
Ensembl chr 9:51,014,862...51,014,945 		JBrowse link
G Mir34c microRNA 34c ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:51,014,334...51,014,410
Ensembl chr 9:51,014,334...51,014,410 		JBrowse link
G Mmp10 matrix metallopeptidase 10 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,502,343...7,510,243
Ensembl chr 9:7,502,353...7,510,241 		JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,344,397...7,360,461
Ensembl chr 9:7,344,381...7,369,499 		JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,272,514...7,283,333
Ensembl chr 9:7,272,514...7,283,331 		JBrowse link
G Mmp1b matrix metallopeptidase 1b (interstitial collagenase) ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047 		JBrowse link
G Mmp20 matrix metallopeptidase 20 (enamelysin) ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,628,232...7,674,969
Ensembl chr 9:7,628,232...7,674,980 		JBrowse link
G Mmp27 matrix metallopeptidase 27 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,571,397...7,581,886
Ensembl chr 9:7,571,397...7,581,886 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,445,845...7,455,975
Ensembl chr 9:7,445,822...7,455,975 		JBrowse link
G Mmp7 matrix metallopeptidase 7 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,692,095...7,699,587
Ensembl chr 9:7,692,091...7,699,587 		JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,558,430...7,568,487
Ensembl chr 9:7,558,457...7,568,486 		JBrowse link
G Mre11a MRE11A homolog A, double strand break repair nuclease ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:14,695,971...14,748,421
Ensembl chr 9:14,695,950...14,748,419 		JBrowse link
G Msantd4 Myb/SANT-like DNA-binding domain containing 4 with coiled-coils ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:4,376,552...4,386,890
Ensembl chr 9:4,376,562...4,386,870 		JBrowse link
G Mtmr2 myotubularin related protein 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:13,660,397...13,720,192
Ensembl chr 9:13,659,706...13,717,777 		JBrowse link
G Nkapd1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,516,542...50,528,567
Ensembl chr 9:50,516,540...50,528,764 		JBrowse link
G Npat nuclear protein in the AT region ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 PMID:31671381 NCBI chr 9:53,448,347...53,486,867
Ensembl chr 9:53,448,347...53,485,642 		JBrowse link
G Pdgfd platelet-derived growth factor, D polypeptide ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:6,168,377...6,534,284
Ensembl chr 9:6,168,584...6,378,850 		JBrowse link
G Pgr progesterone receptor ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:8,890,017...8,968,612
Ensembl chr 9:8,899,834...8,968,612 		JBrowse link
G Pih1d2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,528,621...50,536,300
Ensembl chr 9:50,528,621...50,536,300 		JBrowse link
G Piwil4 piwi-like RNA-mediated gene silencing 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:14,613,072...14,651,968
Ensembl chr 9:14,607,526...14,652,036 		JBrowse link
G Poglut3 protein O-glucosyltransferase 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:53,294,217...53,313,167
Ensembl chr 9:53,295,325...53,313,167 		JBrowse link
G Pou2af1 POU domain, class 2, associating factor 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:51,124,990...51,151,379
Ensembl chr 9:51,125,008...51,151,380 		JBrowse link
G Pou2af2 POU domain, class 2, associating factor 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:51,200,986...51,240,224
Ensembl chr 9:51,200,986...51,240,224 		JBrowse link
G Pou2af3 POU class 2 homeobox associating factor 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:51,181,558...51,189,865
Ensembl chr 9:51,181,558...51,190,951 		JBrowse link
G Ppp2r1b protein phosphatase 2, regulatory subunit A, beta ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,767,946...50,810,625
Ensembl chr 9:50,756,601...50,805,529 		JBrowse link
G Rab39 RAB39, member RAS oncogene family ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:53,595,410...53,617,532
Ensembl chr 9:53,595,410...53,617,532 		JBrowse link
G Rdx radixin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:51,958,450...52,000,038
Ensembl chr 9:51,958,473...52,011,763 		JBrowse link
G Sdhd succinate dehydrogenase complex, subunit D, integral membrane protein ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,507,640...50,515,149
Ensembl chr 9:50,507,657...50,515,112 		JBrowse link
G Sesn3 sestrin 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:14,187,597...14,237,430
Ensembl chr 9:14,186,363...14,244,397 		JBrowse link
G Sik2 salt inducible kinase 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,800,944...50,920,432
Ensembl chr 9:50,804,101...50,920,373 		JBrowse link
G Slc35f2 solute carrier family 35, member F2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:53,678,733...53,725,445
Ensembl chr 9:53,678,822...53,725,438 		JBrowse link
G Sln sarcolipin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:53,757,535...53,761,133
Ensembl chr 9:53,757,448...53,761,844 		JBrowse link
G Timm8b translocase of inner mitochondrial membrane 8B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:50,515,227...50,516,620
Ensembl chr 9:50,515,210...50,516,620 		JBrowse link
G Tmem123 transmembrane protein 123 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,764,078...7,794,334
Ensembl chr 9:7,764,042...7,794,334 		JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:8,543,868...8,680,753
Ensembl chr 9:8,544,143...8,680,742 		JBrowse link
G Yap1 yes-associated protein 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:7,932,000...8,004,890
Ensembl chr 9:7,932,000...8,004,597 		JBrowse link
G Zc3h12c zinc finger CCCH type containing 12C ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:52,020,869...52,080,028
Ensembl chr 9:52,022,644...52,079,872 		JBrowse link
Ataxia Telangiectasia Like Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mre11a MRE11A homolog A, double strand break repair nuclease ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder		 CTD
ClinVar		 PMID:2433832 PMID:8445618 PMID:8684395 PMID:9536098 PMID:9845372 More... NCBI chr 9:14,695,971...14,748,421
Ensembl chr 9:14,695,950...14,748,419 		JBrowse link
G Pcna proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:132,091,206...132,095,100
Ensembl chr 2:132,091,082...132,095,234 		JBrowse link
ataxia with oculomotor apraxia type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3r5 phosphoinositide-3-kinase regulatory subunit 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ataxia with oculomotor apraxia type 3		 OMIM
CTD
ClinVar		 PMID:22065524 PMID:25741868 PMID:28492532 PMID:33116287 NCBI chr11:68,322,951...68,388,675
Ensembl chr11:68,322,947...68,388,675 		JBrowse link
ataxia-oculomotor apraxia type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnkp polynucleotide kinase 3'- phosphatase ISO ClinVar Annotator: match by term: Ataxia - oculomotor apraxia type 4 | ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:17576681 More... NCBI chr 7:44,505,903...44,514,761
Ensembl chr 7:44,506,563...44,512,416 		JBrowse link
Ataxia-Telangiectasia Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930550C14Rik RIKEN cDNA 4930550C14 gene ISO ClinVar Annotator: match by term: Ataxia - telangiectasia variant ClinVar PMID:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9000145 More... NCBI chr 9:53,313,814...53,345,726
Ensembl chr 9:53,313,625...53,345,702 		JBrowse link
G Atm ataxia telangiectasia mutated ISO ClinVar Annotator: match by term: Ataxia - telangiectasia variant ClinVar PMID:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9000145 More... NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040 		JBrowse link
ataxia-telangiectasia-like disorder-1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col5a2 collagen, type V, alpha 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1 ClinVar PMID:25326637 PMID:28492532 NCBI chr 1:45,413,491...45,542,442
Ensembl chr 1:45,413,481...45,542,442 		JBrowse link
G Mre11a MRE11A homolog A, double strand break repair nuclease ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1 | ClinVar Annotator: match by term: MRE11-related condition OMIM
ClinVar		 PMID:2433832 PMID:8445618 PMID:8684395 PMID:9536098 PMID:9845372 More... NCBI chr 9:14,695,971...14,748,421
Ensembl chr 9:14,695,950...14,748,419 		JBrowse link
ataxia-telangiectasia-like disorder-2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcna proliferating cell nuclear antigen ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 2 OMIM
ClinVar		 PMID:24911150 PMID:25741868 NCBI chr 2:132,091,206...132,095,100
Ensembl chr 2:132,091,082...132,095,234 		JBrowse link
BASAN syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Basan syndrome		 OMIM
CTD
ClinVar		 PMID:20619487 PMID:21820097 PMID:24664640 PMID:25741868 PMID:26932190 NCBI chr 6:65,019,577...65,093,045
Ensembl chr 6:65,019,567...65,093,045 		JBrowse link
cardiofaciocutaneous syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf Braf transforming gene ISO
IAGP
IMP		 DNA:mutations:cds:multiple(human)
ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
OMIM:115150 | OMIM:615278 | OMIM:615279 | OMIM:615280
DNA:mutation:cds:p.Q241R(mouse)
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:3265306 PMID:4386970 PMID:5771505 PMID:8042262 PMID:11313766 More... RGD:1600471, RGD:11352608, RGD:11567236 NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397 		JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:17703371 NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918 		JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO DNA:missense mutations:CDS:p.G60R, p.D153V (human)
ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:8234268 PMID:16474404 PMID:16474405 PMID:16773572 PMID:16987887 More... RGD:1600471 NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965 		JBrowse link
G Map2k1 mitogen-activated protein kinase kinase 1 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
OMIM:115150 | OMIM:615278 | OMIM:615279 | OMIM:615280		 CTD
ClinVar
MouseDO		 PMID:1804226 PMID:12612583 PMID:15917206 PMID:16439621 PMID:16538226 More... NCBI chr 9:64,093,066...64,160,887
Ensembl chr 9:64,093,052...64,160,913 		JBrowse link
G Map2k2 mitogen-activated protein kinase kinase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome		 CTD
ClinVar		 PMID:16439621 PMID:17703371 PMID:17981815 PMID:18039235 PMID:18042262 More... NCBI chr10:80,941,749...80,960,531
Ensembl chr10:80,941,749...80,969,809 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CFC syndrome		 CTD
ClinVar		 PMID:17703371 PMID:25741868 PMID:28492532 NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome ClinVar PMID:28492532 NCBI chr 3:88,624,154...88,638,354
Ensembl chr 3:88,624,145...88,638,356 		JBrowse link
G Snapc5 small nuclear RNA activating complex, polypeptide 5 ISO ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar NCBI chr 9:64,086,066...64,089,972
Ensembl chr 9:64,086,556...64,090,414 		JBrowse link
cardiofaciocutaneous syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf Braf transforming gene ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 OMIM
ClinVar		 PMID:2102266 PMID:2851224 PMID:3265306 PMID:4386970 PMID:5771505 More... NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397 		JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 ClinVar PMID:8234268 PMID:17056636 PMID:18958496 PMID:21784453 PMID:24033266 More... NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965 		JBrowse link
G Map2k2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 ClinVar PMID:17366577 PMID:24719372 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr10:80,941,749...80,960,531
Ensembl chr10:80,941,749...80,969,809 		JBrowse link
cardiofaciocutaneous syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kras Kirsten rat sarcoma viral oncogene homolog ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 2 OMIM
ClinVar		 PMID:8246952 PMID:12110640 PMID:14982869 PMID:16474404 PMID:16474405 More... NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965 		JBrowse link
cardiofaciocutaneous syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map2k1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 3 | ClinVar Annotator: match by term: MAP2K1-Related Disorder OMIM
ClinVar		 PMID:1804226 PMID:12370306 PMID:12612583 PMID:15917206 PMID:16199547 More... NCBI chr 9:64,093,066...64,160,887
Ensembl chr 9:64,093,052...64,160,913 		JBrowse link
cardiofaciocutaneous syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map2k2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 4 | ClinVar Annotator: match by term: MAP2K2-related condition
DNA:missense mutation:CDS:p.P128Q (human)		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:16439621 PMID:17366577 PMID:17576681 PMID:17981815 More... RGD:155791562 NCBI chr10:80,941,749...80,960,531
Ensembl chr10:80,941,749...80,969,809 		JBrowse link
cartilage-hair hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Cartilage-hair hypoplasia ClinVar PMID:8034306 PMID:9156319 PMID:10026268 PMID:11207361 PMID:11940090 More... NCBI chr 4:43,493,365...43,495,921
Ensembl chr 4:43,492,900...43,495,921 		JBrowse link
G Rmrp RNA component of mitochondrial RNAase P ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cartilage-Hair Hypoplasia | ClinVar Annotator: match by term: Cartilage-hair hypoplasia | ClinVar Annotator: match by term: Metaphyseal chondrodysplasia, McKusick type		 OMIM
CTD
ClinVar		 PMID:8034306 PMID:9156319 PMID:10026268 PMID:11207361 PMID:11701897 More... NCBI chr 4:43,492,785...43,493,059
Ensembl chr 4:43,492,788...43,493,058
Ensembl chr 4:43,492,788...43,493,058 		JBrowse link
CEDNIK syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: CEDNIK syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr16:17,098,215...17,224,178
Ensembl chr16:17,098,215...17,224,178 		JBrowse link
G Snap29 synaptosomal-associated protein 29 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CEDNIK syndrome | ClinVar Annotator: match by term: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
OMIM:609528		 OMIM
CTD
ClinVar
MouseDO		 PMID:15968592 PMID:19350501 PMID:19896110 PMID:21073448 PMID:23185475 More... NCBI chr16:17,223,864...17,248,690
Ensembl chr16:17,223,850...17,248,691 		JBrowse link
CHIME syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigl phosphatidylinositol glycan anchor biosynthesis, class L ISO ClinVar Annotator: match by term: CHIME syndrome | ClinVar Annotator: match by term: Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome | ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 5 | ClinVar Annotator: match by term: Zunich neuroectodermal syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:CDS:c.500T>C (p.L167P) (human)		 OMIM
ClinVar
CTD
RGD		 PMID:3041916 PMID:7666399 PMID:8893234 PMID:16199547 PMID:18414213 More... RGD:243048422 NCBI chr11:62,349,267...62,406,863
Ensembl chr11:62,349,286...62,405,243 		JBrowse link
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf135 ring finger protein 135 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome		 CTD
ClinVar		 PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More... NCBI chr11:80,074,652...80,090,581
Ensembl chr11:80,074,677...80,090,583 		JBrowse link
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trp63 transformation related protein 63 ISO ClinVar Annotator: match by term: Cleft lip with or without cleft palate, nonsyndromic, 8 ClinVar PMID:9536098 PMID:16740912 PMID:17576681 PMID:24309930 PMID:25741868 More... NCBI chr16:25,502,513...25,710,842
Ensembl chr16:25,502,513...25,710,852 		JBrowse link
cleft lip-palate-ectodermal dysplasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, MARGARITA ISLAND TYPE | ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, TYPE 4 | ClinVar Annotator: match by term: Zlotogora-Ogur syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 More... NCBI chr 9:43,655,251...43,718,758
Ensembl chr 9:43,655,281...43,743,955 		JBrowse link
Clouston syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryl1 crystallin, lambda 1 ISO ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia ClinVar PMID:27480936 PMID:28492532 NCBI chr14:57,512,491...57,635,940
Ensembl chr14:57,512,450...57,635,986 		JBrowse link
G Eda ectodysplasin-A ISO Anhidrotic ectodermal dysplasia, EDA-related OMIA PMID:579352 PMID:3710892 PMID:4055508 PMID:5462764 PMID:6746381 More... NCBI chr  X:99,019,212...99,444,366
Ensembl chr  X:99,019,212...99,444,368 		JBrowse link
G Eef1akmt1 EEF1A alpha lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr14:57,787,052...57,809,039
Ensembl chr14:57,787,054...57,809,069 		JBrowse link
G Foxi3 forkhead box I3 ISO Ectodermal dysplasia OMIA PMID:3998444 PMID:8437436 PMID:15771734 PMID:15958791 PMID:18787161 More... NCBI chr 6:70,933,590...70,938,050
Ensembl chr 6:70,933,515...70,938,050 		JBrowse link
G Gja3 gap junction protein, alpha 3 ISO ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr14:57,271,917...57,295,487
Ensembl chr14:57,271,917...57,295,557 		JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159 		JBrowse link
G Gjb6 gap junction protein, beta 6 IAGP
ISO		 OMIM:129500
ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia syndrome		 MouseDO
ClinVar
OMIM		 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 PMID:11874494 More... NCBI chr14:57,360,760...57,370,764
Ensembl chr14:57,360,760...57,371,068 		JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr14:57,661,519...57,755,393
Ensembl chr14:57,661,519...57,755,393 		JBrowse link
G Il17d interleukin 17D ISO ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr14:57,762,197...57,780,623
Ensembl chr14:57,762,234...57,780,623 		JBrowse link
G Xpo4 exportin 4 ISO ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr14:57,814,978...57,906,951
Ensembl chr14:57,814,978...57,902,887 		JBrowse link
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkd1 protein kinase D1 ISO ClinVar Annotator: match by term: Congenital heart defects and ectodermal dysplasia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:27479907 PMID:28492532 PMID:32817298 NCBI chr12:50,388,009...50,696,075
Ensembl chr12:50,388,014...50,695,881 		JBrowse link
cranioectodermal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cranioectodermal dysplasia		 CTD
ClinVar		 PMID:23826986 PMID:24027799 PMID:25741868 PMID:28492532 NCBI chr 6:115,830,340...115,903,660
Ensembl chr 6:115,830,431...115,903,660 		JBrowse link
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 NCBI chr12:86,129,335...86,209,233
Ensembl chr12:86,129,315...86,209,233 		JBrowse link
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia | ClinVar Annotator: match by term: Sensenbrenner syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr12:8,997,929...9,022,028
Ensembl chr12:8,997,929...9,022,028 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia ClinVar NCBI chr12:86,103,517...86,125,815
Ensembl chr12:86,103,519...86,125,815 		JBrowse link
G Wdr19 WD repeat domain 19 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cranioectodermal dysplasia		 CTD
ClinVar		 PMID:22019273 PMID:23559409 PMID:23683095 PMID:25726036 PMID:25741868 More... NCBI chr 5:65,357,039...65,417,758
Ensembl chr 5:65,357,039...65,417,758 		JBrowse link
G Wdr35 WD repeat domain 35 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cranioectodermal dysplasia | ClinVar Annotator: match by term: Sensenbrenner syndrome		 CTD
ClinVar		 PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:28332779 More... NCBI chr12:9,023,897...9,078,848
Ensembl chr12:9,023,892...9,078,847 		JBrowse link
cranioectodermal dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 | ClinVar Annotator: match by term: LEVIN SYNDROME I OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17022080 PMID:17576681 PMID:19648123 More... NCBI chr 6:115,830,340...115,903,660
Ensembl chr 6:115,830,431...115,903,660 		JBrowse link
G Mbd4 methyl-CpG binding domain protein 4 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 ClinVar PMID:28492532 NCBI chr 6:115,817,658...115,830,361
Ensembl chr 6:115,817,658...115,830,332 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 ClinVar PMID:28492532 NCBI chr 6:115,903,741...115,916,999
Ensembl chr 6:115,908,709...115,916,997 		JBrowse link
cranioectodermal dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:8,997,929...9,022,028
Ensembl chr12:8,997,929...9,022,028 		JBrowse link
G Spag17 sperm associated antigen 17 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar NCBI chr 3:99,792,653...100,050,638
Ensembl chr 3:99,792,722...100,050,638 		JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2
DNA:missense mutation:cds:p.L520P (human)		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20817137 PMID:21473986 More... RGD:11553909 NCBI chr12:9,023,897...9,078,848
Ensembl chr12:9,023,892...9,078,847 		JBrowse link
cranioectodermal dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 3 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21378380 PMID:24027799 PMID:25741868 More... NCBI chr12:86,129,335...86,209,233
Ensembl chr12:86,129,315...86,209,233 		JBrowse link
cranioectodermal dysplasia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr19 WD repeat domain 19 ISO
IAGP		 ClinVar Annotator: match by term: Cranioectodermal dysplasia 4
DNA:missense mutation:cds:p.L750P (mouse)		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:17576681 PMID:22019273 PMID:23559409 PMID:23683095 More... RGD:11552606 NCBI chr 5:65,357,039...65,417,758
Ensembl chr 5:65,357,039...65,417,758 		JBrowse link
dermatopathia pigmentosa reticularis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt14 keratin 14 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dermatopathia pigmentosa reticularis		 OMIM
CTD
ClinVar		 PMID:1303619 PMID:1717157 PMID:10730767 PMID:11710919 PMID:16098032 More... NCBI chr11:100,093,988...100,098,336
Ensembl chr11:100,093,988...100,098,374 		JBrowse link
ectodermal dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda ectodysplasin-A ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... RGD:1598881 NCBI chr  X:99,019,212...99,444,366
Ensembl chr  X:99,019,212...99,444,368 		JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:96,375,936...96,420,786
Ensembl chr  X:96,377,446...96,420,822 		JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:25741868 NCBI chr 5:114,582,324...114,598,652
Ensembl chr 5:114,582,330...114,598,652 		JBrowse link
ectodermal dysplasia 10A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr10:58,333,523...58,412,066
Ensembl chr10:58,333,770...58,412,066 		JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:10431241 PMID:10431242 PMID:11035039 PMID:11279189 More... RGD:1598883 NCBI chr10:58,436,602...58,511,518
Ensembl chr10:58,436,611...58,511,476 		JBrowse link
G Edaradd EDAR associated via death domain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant		 CTD
ClinVar		 PMID:9245989 PMID:11780064 PMID:17354266 PMID:20222921 NCBI chr13:12,486,090...12,535,413
Ensembl chr13:12,487,513...12,535,319 		JBrowse link
G Gcc2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr10:58,091,240...58,141,421
Ensembl chr10:58,091,319...58,141,421 		JBrowse link
G Lims1 LIM and senescent cell antigen-like domains 1 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr10:58,159,164...58,260,513
Ensembl chr10:58,159,288...58,260,513 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant ClinVar PMID:9536098 PMID:10431241 PMID:10431242 PMID:11035039 PMID:11279189 More... NCBI chr10:58,282,674...58,329,977
Ensembl chr10:58,282,742...58,330,178 		JBrowse link
G Slc5a7 solute carrier family 5 (choline transporter), member 7 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr17:54,580,618...54,606,071
Ensembl chr17:54,580,618...54,606,062 		JBrowse link
G Sult1c1 sulfotransferase family, cytosolic, 1C, member 1 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr17:54,268,643...54,297,659
Ensembl chr17:54,268,643...54,297,702 		JBrowse link
G Sult1c2 sulfotransferase family, cytosolic, 1C, member 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr17:54,136,665...54,152,986
Ensembl chr17:54,136,665...54,153,367 		JBrowse link
ectodermal dysplasia 10B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:28492532 NCBI chr10:58,333,523...58,412,066
Ensembl chr10:58,333,770...58,412,066 		JBrowse link
G Edar ectodysplasin-A receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		 OMIM
CTD
ClinVar		 PMID:10431241 PMID:11279189 PMID:15373768 PMID:16435307 PMID:18065779 More... NCBI chr10:58,436,602...58,511,518
Ensembl chr10:58,436,611...58,511,476 		JBrowse link
G Edaradd EDAR associated via death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 NCBI chr13:12,486,090...12,535,413
Ensembl chr13:12,487,513...12,535,319 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:11279189 PMID:15373768 PMID:16435307 PMID:18065779 More... NCBI chr10:58,282,674...58,329,977
Ensembl chr10:58,282,742...58,330,178 		JBrowse link
ectodermal dysplasia 11A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edaradd EDAR associated via death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11780064 PMID:17354266 PMID:20222921 PMID:20979233 PMID:21626677 More... NCBI chr13:12,486,090...12,535,413
Ensembl chr13:12,487,513...12,535,319 		JBrowse link
ectodermal dysplasia 11B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 More... NCBI chr10:58,436,602...58,511,518
Ensembl chr10:58,436,611...58,511,476 		JBrowse link
G Edaradd EDAR associated via death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive OMIM
ClinVar		 PMID:9245989 PMID:11212737 PMID:11780064 PMID:17354266 PMID:25741868 More... NCBI chr13:12,486,090...12,535,413
Ensembl chr13:12,487,513...12,535,319 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 More... NCBI chr10:58,282,674...58,329,977
Ensembl chr10:58,282,742...58,330,178 		JBrowse link
ectodermal dysplasia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdf1 keratinocyte differentiation factor 1 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:27838789 PMID:28492532 NCBI chr 4:133,246,274...133,258,101
Ensembl chr 4:133,246,274...133,258,101 		JBrowse link
ectodermal dysplasia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gm30172 predicted gene, 30172 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 13, hair/tooth type ClinVar PMID:25741868 PMID:28492532 NCBI chr11:5,225,262...5,225,571 JBrowse link
G Kremen1 kringle containing transmembrane protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectodermal dysplasia 13, hair/tooth type		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:27049303 PMID:28492532 NCBI chr11:5,141,551...5,212,220
Ensembl chr11:5,141,552...5,211,558 		JBrowse link
ectodermal dysplasia 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krtap10-23 keratin associated protein 10-23 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis ClinVar PMID:25741868 NCBI chr10:77,617,567...77,618,449
Ensembl chr10:77,617,684...77,618,376 		JBrowse link
G Tspear thrombospondin type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis | ClinVar Annotator: match by term: Ectodermal dysplasia 14, hair/tooth type, with hypohidrosis | ClinVar Annotator: match by term: TSPEAR-related disorder of tooth and hair follicle morphogenesis OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22678063 PMID:24033266 PMID:25741868 More... NCBI chr10:77,521,942...77,722,844
Ensembl chr10:77,522,403...77,722,855 		JBrowse link
ectodermal dysplasia 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cst6 cystatin E/M ISO ClinVar Annotator: match by term: Ectodermal dysplasia 15, hypohidrotic/hair type OMIM
ClinVar		 PMID:25741868 PMID:30425301 NCBI chr19:5,394,733...5,399,602
Ensembl chr19:5,394,733...5,399,602 		JBrowse link
ectodermal dysplasia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxc13 homeobox C13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24239177 NCBI chr15:102,829,566...102,837,249
Ensembl chr15:102,829,538...102,837,249 		JBrowse link
G Krt74 keratin 74 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 4, hair/nail type ClinVar PMID:20409997 PMID:24714551 PMID:25741868 PMID:28492532 NCBI chr15:101,662,694...101,671,939
Ensembl chr15:101,662,787...101,671,873
Ensembl chr15:101,662,787...101,671,873 		JBrowse link
G Krt85 keratin 85 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectodermal dysplasia 4, hair/nail type		 OMIM
CTD
ClinVar		 PMID:16525032 PMID:19865094 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:101,413,569...101,422,054
Ensembl chr15:101,413,801...101,422,054 		JBrowse link
ectodermal dysplasia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt74 keratin 74 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectodermal dysplasia 7, hair/nail type		 OMIM
CTD
ClinVar		 PMID:20409997 PMID:24714551 PMID:25741868 PMID:28492532 NCBI chr15:101,662,694...101,671,939
Ensembl chr15:101,662,787...101,671,873
Ensembl chr15:101,662,787...101,671,873 		JBrowse link
ectodermal dysplasia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxc13 homeobox C13 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectodermal dysplasia 9, hair/nail type		 OMIM
CTD
ClinVar		 PMID:23063621 PMID:23315978 PMID:25741868 NCBI chr15:102,829,566...102,837,249
Ensembl chr15:102,829,538...102,837,249 		JBrowse link
ectodermal dysplasia and immune deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pdx glucose-6-phosphate dehydrogenase X-linked ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY ClinVar PMID:25741868 NCBI chr  X:73,453,089...73,472,486
Ensembl chr  X:73,453,089...73,472,800 		JBrowse link
G Ikbkg inhibitor of kappaB kinase gamma ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY ClinVar PMID:25741868 NCBI chr  X:73,436,883...73,498,013
Ensembl chr  X:73,436,896...73,497,460 		JBrowse link
ectodermal dysplasia and immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pdx glucose-6-phosphate dehydrogenase X-linked ISO ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia ClinVar PMID:25741868 NCBI chr  X:73,453,089...73,472,486
Ensembl chr  X:73,453,089...73,472,800 		JBrowse link
G Ikbkg inhibitor of kappaB kinase gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 | ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia
CTD Direct Evidence: marker/mechanism
DNA:mutation:splicing site:		 OMIM
ClinVar
CTD
RGD		 PMID:11242109 PMID:11590134 PMID:15229184 PMID:15833888 PMID:16532398 More... RGD:12791265 NCBI chr  X:73,436,883...73,498,013
Ensembl chr  X:73,436,896...73,497,460 		JBrowse link
ectodermal dysplasia and immunodeficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Baz1a bromodomain adjacent to zinc finger domain 1A ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr12:54,939,774...55,061,155
Ensembl chr12:54,940,336...55,061,133 		JBrowse link
G Cfl2 cofilin 2, muscle ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr12:54,905,602...54,910,065
Ensembl chr12:54,905,594...54,909,662 		JBrowse link
G Fam177a family with sequence similarity 177, member A ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr12:55,171,313...55,188,889
Ensembl chr12:55,171,254...55,188,889 		JBrowse link
G Nfkbia nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 | ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:14523047 PMID:15337789 PMID:17576681 PMID:17931563 More... NCBI chr12:55,536,194...55,539,432
Ensembl chr12:55,536,195...55,539,432 		JBrowse link
G Ppp2r3c protein phosphatase 2, regulatory subunit B'', gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr12:55,327,594...55,350,024
Ensembl chr12:55,325,776...55,349,783 		JBrowse link
G Prorp protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr12:55,349,422...55,429,276
Ensembl chr12:55,346,362...55,429,318 		JBrowse link
G Psma6 proteasome subunit alpha 6 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr12:55,431,007...55,465,244
Ensembl chr12:55,431,007...55,465,239 		JBrowse link
G Srp54a signal recognition particle 54A ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr12:55,127,318...55,162,152
Ensembl chr12:55,127,047...55,162,152 		JBrowse link
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhoa ras homolog family member A ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES, SOMATIC MOSAIC | ClinVar Annotator: match by term: Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31570889 PMID:31821646 NCBI chr 9:108,183,359...108,215,142
Ensembl chr 9:108,183,328...108,215,133 		JBrowse link
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh3 cadherin 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CDH3-related condition | ClinVar Annotator: match by term: EEM syndrome		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:10420194 PMID:13372143 PMID:14708629 PMID:15805154 More... NCBI chr 8:107,237,484...107,283,543
Ensembl chr 8:107,237,523...107,283,929 		JBrowse link
Ectodermal Dysplasia-Skin Fragility Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Mcgrath syndrome ClinVar PMID:18632414 PMID:21636032 PMID:23861362 PMID:24033266 PMID:24503780 More... NCBI chr13:38,335,357...38,382,553
Ensembl chr13:38,335,270...38,382,553 		JBrowse link
G Pkp1 plakophilin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mcgrath syndrome		 OMIM
CTD
ClinVar		 PMID:9326952 PMID:10951270 PMID:11994137 PMID:16781314 PMID:24073657 More... NCBI chr 1:135,799,132...135,846,945
Ensembl chr 1:135,799,133...135,846,945 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectodermal dysplasia-syndactyly syndrome 1		 OMIM
CTD
ClinVar		 PMID:20691405 PMID:21346770 PMID:24577405 PMID:25529316 PMID:25741868 More... NCBI chr 1:171,197,741...171,215,855
Ensembl chr 1:171,197,667...171,216,166 		JBrowse link
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grhl2 grainyhead like transcription factor 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia/short stature syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24033266 PMID:25152456 PMID:25741868 PMID:28492532 NCBI chr15:37,233,065...37,363,813
Ensembl chr15:37,233,280...37,363,813 		JBrowse link
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC111162622 DeltaNp63 promoter of tumor protein p63 ISO ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 ClinVar NCBI chr16:25,620,454...25,621,054 JBrowse link
G Trp63 transformation related protein 63 susceptibility ISO
IAGP		 DNA:frameshift mutation, missense mutations: :multiple
ClinVar Annotator: match by term: EEC SYNDROME 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
CTD Direct Evidence: marker/mechanism
OMIM:604292
DNA:nonsense mutation: :p.Q16X (human)
DNA:missense mutations:exon:p.R280C, p.R304Q (human)
DNA:missense mutation:exon:p.R279H (835G>A) 		ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:8737655 PMID:9028452 PMID:9443880 PMID:9536098 PMID:10535733 More... RGD:1600403, RGD:11532814, RGD:11568642, RGD:11568640 NCBI chr16:25,502,513...25,710,842
Ensembl chr16:25,502,513...25,710,852 		JBrowse link
EEC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trp63 transformation related protein 63 ISO
IMP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
DNA:missense mutation:exon:p.A346G (c.1037C>G) (human)
DNA:frameshift mutation, missense mutations:exon:multiple
DNA:missense mutations: :multiple
DNA:missense mutation:exon:p.R280C (955C>T) (human)
DNA:missense mutation:exon:p.R318H (mouse)		 CTD
ClinVar
RGD		 PMID:8737655 PMID:9443880 PMID:9536098 PMID:10535733 PMID:10839977 More... RGD:11568639, RGD:11568638, RGD:11070288, RGD:11568075, RGD:11568074 NCBI chr16:25,502,513...25,710,842
Ensembl chr16:25,502,513...25,710,852 		JBrowse link
Ellis-Van Creveld syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add1 adducin 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 5:34,731,008...34,789,652
Ensembl chr 5:34,731,008...34,789,652 		JBrowse link
G Adra2c adrenergic receptor, alpha 2c ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 5:35,435,910...35,439,107
Ensembl chr 5:35,435,663...35,439,107 		JBrowse link
G Ccdc39 coiled-coil domain containing 39 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:21131972 PMID:23255504 PMID:24498942 PMID:25741868 PMID:28492532 More... NCBI chr 3:33,864,906...33,898,473
Ensembl chr 3:33,866,511...33,898,459 		JBrowse link
G Cytl1 cytokine-like 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 5:37,892,863...37,897,164
Ensembl chr 5:37,892,863...37,897,164 		JBrowse link
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 5:35,213,922...35,245,183
Ensembl chr 5:35,214,110...35,245,183 		JBrowse link
G Evc EvC ciliary complex subunit 1 ISO
IAGP		 ClinVar Annotator: match by term: Ellis-van Creveld syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:c.1678G>T(human)
DNA:deletion:cds:c.731_757(human)
OMIM:225500
DNA:mutations:multiple (human)		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:7628126 PMID:7635486 PMID:9066272 PMID:9536098 PMID:10700162 More... RGD:155260290, RGD:155260285, RGD:1302823 NCBI chr 5:37,446,314...37,495,489
Ensembl chr 5:37,446,442...37,494,238 		JBrowse link
G Evc2 EvC ciliary complex subunit 2 susceptibility ISO
IAGP		 DNA:mutations
ClinVar Annotator: match by term: Ellis-van Creveld syndrome
CTD Direct Evidence: marker/mechanism
OMIM:225500		 ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:7218275 PMID:9536098 PMID:12468274 PMID:12571802 PMID:16199547 More... RGD:1600212 NCBI chr 5:37,495,801...37,582,399
Ensembl chr 5:37,495,843...37,582,399 		JBrowse link
G Fam193a family with sequence homology 193, member A ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 5:34,527,295...34,643,800
Ensembl chr 5:34,527,277...34,643,800 		JBrowse link
G Grk4 G protein-coupled receptor kinase 4 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 5:34,817,641...34,912,649
Ensembl chr 5:34,817,723...34,912,649 		JBrowse link
G Haus3 HAUS augmin-like complex, subunit 3 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 5:34,311,240...34,326,768
Ensembl chr 5:34,311,224...34,326,871 		JBrowse link
G Hgfac hepatocyte growth factor activator ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 5:35,198,853...35,205,805
Ensembl chr 5:35,198,853...35,205,805 		JBrowse link
G Htt huntingtin ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 5:34,919,084...35,069,878
Ensembl chr 5:34,919,084...35,069,878 		JBrowse link
G Lrpap1 low density lipoprotein receptor-related protein associated protein 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 5:35,248,834...35,263,043
Ensembl chr 5:35,248,845...35,263,110 		JBrowse link
G Lyar Ly1 antibody reactive clone ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 5:38,377,815...38,391,650
Ensembl chr 5:38,377,814...38,391,650 		JBrowse link
G Mfsd10 major facilitator superfamily domain containing 10 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 5:34,790,988...34,794,558
Ensembl chr 5:34,790,986...34,794,556 		JBrowse link
G Msantd1 Myb/SANT-like DNA-binding domain containing 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 5:35,071,581...35,084,333
Ensembl chr 5:35,065,356...35,081,183 		JBrowse link
G Msx1 msh homeobox 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 5:37,977,835...37,981,929
Ensembl chr 5:37,977,829...37,981,927 		JBrowse link
G Mxd4 Max dimerization protein 4 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 5:34,331,231...34,345,076
Ensembl chr 5:34,331,227...34,345,064 		JBrowse link
G Nop14 NOP14 nucleolar protein ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 5:34,795,880...34,817,566
Ensembl chr 5:34,795,880...34,817,492 		JBrowse link
G Nsg1 neuron specific gene family member 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 5:38,294,537...38,317,087
Ensembl chr 5:38,294,536...38,317,251 		JBrowse link
G Otop1 otopetrin 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 5:38,434,748...38,461,560
Ensembl chr 5:38,433,316...38,461,552 		JBrowse link
G Poln DNA polymerase N ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 5:34,164,523...34,326,870
Ensembl chr 5:34,164,523...34,326,792 		JBrowse link
G Rgs12 regulator of G-protein signaling 12 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 5:35,106,273...35,196,988
Ensembl chr 5:35,106,789...35,196,988 		JBrowse link
G Rnf4 ring finger protein 4 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 5:34,493,594...34,510,789
Ensembl chr 5:34,493,633...34,512,973 		JBrowse link
G Sh3bp2 SH3-domain binding protein 2 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 5:34,683,128...34,720,983
Ensembl chr 5:34,683,182...34,720,985 		JBrowse link
G Stk32b serine/threonine kinase 32B ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 5:37,604,169...37,874,503
Ensembl chr 5:37,604,169...37,874,515 		JBrowse link
G Stx18 syntaxin 18 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 5:38,194,073...38,295,114
Ensembl chr 5:38,196,086...38,295,109 		JBrowse link
G Tmem128 transmembrane protein 128 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 5:38,417,529...38,426,978
Ensembl chr 5:38,417,529...38,426,978 		JBrowse link
G Tnip2 TNFAIP3 interacting protein 2 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 5:34,653,440...34,671,323
Ensembl chr 5:34,653,431...34,671,335 		JBrowse link
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:25741868 NCBI chr 1:91,422,311...91,457,029
Ensembl chr 1:91,422,369...91,457,029 		JBrowse link
G Wdr35 WD repeat domain 35 ISO DNA:snps:introns, cds:multiple (human)
ClinVar Annotator: match by term: Ellis-van Creveld syndrome		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:25908617 RGD:11073852 NCBI chr12:9,023,897...9,078,848
Ensembl chr12:9,023,892...9,078,847 		JBrowse link
G Zbtb49 zinc finger and BTB domain containing 49 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 5:38,347,076...38,377,798
Ensembl chr 5:38,347,079...38,377,801 		JBrowse link
G Zfyve28 zinc finger, FYVE domain containing 28 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 5:34,352,237...34,445,796
Ensembl chr 5:34,352,237...34,445,793 		JBrowse link
Encephalocraniocutaneous Lipomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Encephalocraniocutaneous lipomatosis		 OMIM
CTD
ClinVar		 PMID:10766980 PMID:11173846 PMID:14513299 PMID:15793702 PMID:23819449 More... NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734 		JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO ClinVar Annotator: match by term: Encephalocraniocutaneous lipomatosis ClinVar PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:7773929 More... NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965 		JBrowse link
focal dermal hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Porcn porcupine O-acyltransferase ISO
IAGP		 ClinVar Annotator: match by term: Focal dermal hypoplasia | ClinVar Annotator: match by term: PORCN-related condition
OMIM:305600
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:17546030 PMID:17546031 PMID:18325042 PMID:19277062 PMID:19309688 More... NCBI chr  X:8,060,085...8,072,794
Ensembl chr  X:8,060,087...8,072,764 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Gorlin-Goltz Syndrome ClinVar PMID:1347096 PMID:8302318 PMID:8658145 PMID:11457640 PMID:11941477 More... NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412 		JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Gorlin-Goltz Syndrome ClinVar PMID:28492532 NCBI chr 4:116,953,253...116,973,298
Ensembl chr 4:116,953,272...116,973,298 		JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Gorlin-Goltz Syndrome ClinVar PMID:12068298 PMID:19533801 PMID:21188540 PMID:25741868 PMID:26467025 More... NCBI chr19:46,385,335...46,477,243
Ensembl chr19:46,385,335...46,477,243 		JBrowse link
Focal Facial Dermal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp26c1 cytochrome P450, family 26, subfamily c, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:37,673,560...37,681,774
Ensembl chr19:37,674,029...37,681,846 		JBrowse link
G Twist2 twist basic helix-loop-helix transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:91,729,183...91,775,756
Ensembl chr 1:91,729,183...91,775,750 		JBrowse link
Focal Facial Dermal Dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twist2 twist basic helix-loop-helix transcription factor 2 ISO ClinVar Annotator: match by term: Focal facial dermal dysplasia 3, Setleis type OMIM
ClinVar		 PMID:8818454 PMID:14069095 PMID:20691403 PMID:21931173 NCBI chr 1:91,729,183...91,775,756
Ensembl chr 1:91,729,183...91,775,750 		JBrowse link
Focal Facial Dermal Dysplasia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp26c1 cytochrome P450, family 26, subfamily c, polypeptide 1 ISO ClinVar Annotator: match by term: Focal facial dermal dysplasia 4 OMIM
ClinVar		 PMID:16530710 PMID:23161670 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr19:37,673,560...37,681,774
Ensembl chr19:37,674,029...37,681,846 		JBrowse link
hypohidrotic ectodermal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda ectodysplasin-A IAGP
ISO
IMP		 OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100
ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia		 MouseDO
ClinVar
RGD		 PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... RGD:14398763 NCBI chr  X:99,019,212...99,444,366
Ensembl chr  X:99,019,212...99,444,368 		JBrowse link
G Edar ectodysplasin-A receptor IAGP
ISO		 OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia		 MouseDO
ClinVar		 PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 More... NCBI chr10:58,436,602...58,511,518
Ensembl chr10:58,436,611...58,511,476 		JBrowse link
G Edaradd EDAR associated via death domain ISO DNA:missense mutation:exon:p.Pro153Ser(rat)
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia		 ClinVar
RGD		 PMID:20222921 PMID:20979233 PMID:21626677 PMID:25741868 PMID:28492532 More... RGD:14398762 NCBI chr13:12,486,090...12,535,413
Ensembl chr13:12,487,513...12,535,319 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 More... NCBI chr10:58,282,674...58,329,977
Ensembl chr10:58,282,742...58,330,178 		JBrowse link
G Traf6 TNF receptor-associated factor 6 IAGP OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 MouseDO NCBI chr 2:101,508,765...101,532,013
Ensembl chr 2:101,508,774...101,532,014 		JBrowse link
G Wnt10a wingless-type MMTV integration site family, member 10A ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:19559398 PMID:20979233 PMID:21279306 PMID:21484994 PMID:22581971 More... NCBI chr 1:74,831,178...74,843,335
Ensembl chr 1:74,830,675...74,843,338 		JBrowse link
Johanson-Blizzard syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ubr1 ubiquitin protein ligase E3 component n-recognin 1 ISO
IAGP		 ClinVar Annotator: match by term: Johanson-Blizzard syndrome | ClinVar Annotator: match by term: Nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness
CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:exon 15, c.1759C>T, p.Q587X (human)
DNA:splice-site mutation:cds:IVS26+5G>A (human)
OMIM:243800		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:16311597 PMID:18553553 PMID:19006206 PMID:19058315 PMID:20556423 More... RGD:155882463, RGD:155882462 NCBI chr 2:120,690,753...120,801,246
Ensembl chr 2:120,690,750...120,801,196 		JBrowse link
junctional epidermolysis bullosa with pyloric atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Galk1 galactokinase 1 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia
ClinVar Annotator: match by term: ITGB4-related condition | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia		 ClinVar PMID:9536098 PMID:9792864 PMID:9892956 PMID:10484780 PMID:11328943 More... NCBI chr11:115,899,183...115,903,545
Ensembl chr11:115,899,283...115,903,545 		JBrowse link
G Itga6 integrin alpha 6 ISO ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 6, with pyloric atresia | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia OMIM
ClinVar		 PMID:9158140 PMID:9185503 PMID:9804362 PMID:14675179 PMID:23496044 More... NCBI chr 2:71,617,236...71,688,761
Ensembl chr 2:71,575,960...71,688,760 		JBrowse link
G Itgb4 integrin beta 4 ISO
IAGP		 ClinVar Annotator: match by term: ITGB4-related condition | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia
OMIM:226730
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:6177243 PMID:7545057 PMID:9536098 PMID:9546354 PMID:9674902 More... NCBI chr11:115,865,556...115,899,238
Ensembl chr11:115,865,535...115,899,238 		JBrowse link
G Plec plectin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia		 CTD
ClinVar		 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:76,055,174...76,115,578
Ensembl chr15:76,055,174...76,116,774 		JBrowse link
Keratosis Palmoplantaris with Periodontopathia and Onychogryposis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctsc cathepsin C ISO ClinVar Annotator: match by term: Haim-Munk syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1886537 PMID:9536098 PMID:10581027 PMID:10593994 PMID:10662807 More... NCBI chr 7:87,927,233...87,960,083
Ensembl chr 7:87,927,293...87,960,096 		JBrowse link
G Grm5 glutamate receptor, metabotropic 5 ISO ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chr 7:87,233,212...87,784,271
Ensembl chr 7:87,233,376...87,784,115 		JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chr 7:87,073,979...87,142,637
Ensembl chr 7:87,073,979...87,142,720 		JBrowse link
linear nevus sebaceous syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hras Harvey rat sarcoma virus oncogene ISO ClinVar Annotator: match by term: Linear nevus sebaceous | ClinVar Annotator: match by term: Linear nevus sebaceous syndrome | ClinVar Annotator: match by term: Organoid nevus phakomatosis
DNA:mutation:cds:c.37G>C(p.G13R)(human)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 More... RGD:11098548 NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918 		JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO ClinVar Annotator: match by term: Linear nevus sebaceous
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12110640 More... NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Linear nevus sebaceous | ClinVar Annotator: match by term: Linear nevus sebaceous syndrome | ClinVar Annotator: match by term: Organoid nevus phakomatosis ClinVar PMID:12835555 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 More... NCBI chr 7:140,774,024...140,789,968
Ensembl chr 7:140,774,070...140,789,968 		JBrowse link
G Nras neuroblastoma ras oncogene ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Linear nevus sebaceous		 OMIM
CTD
ClinVar		 PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230 		JBrowse link
linear skin defects with multiple congenital anomalies 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox7b cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9747372 PMID:23122588 PMID:25741868 PMID:28492532 NCBI chr  X:105,059,306...105,066,056
Ensembl chr  X:105,059,306...105,066,056 		JBrowse link
Marshall syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen, type XI, alpha 1 susceptibility ISO DNA:SNP:splice junction:
ClinVar Annotator: match by term: Deafness, myopia, cataract, saddle nose-Marshall type | ClinVar Annotator: match by term: Marshall syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:9129742 PMID:9529347 PMID:9536098 PMID:9792885 PMID:10486316 More... RGD:1600881 NCBI chr 3:113,823,933...114,014,405
Ensembl chr 3:113,824,189...114,014,367 		JBrowse link
G Pcdh12 protocadherin 12 ISO ClinVar Annotator: match by term: Marshall syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:38,400,145...38,417,454
Ensembl chr18:38,400,142...38,417,455 		JBrowse link
G Rnf14 ring finger protein 14 ISO ClinVar Annotator: match by term: Marshall syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:38,410,513...38,450,905
Ensembl chr18:38,417,590...38,450,902 		JBrowse link
G Rnpc3 RNA-binding region (RNP1, RRM) containing 3 ISO ClinVar Annotator: match by term: Marshall syndrome ClinVar PMID:25741868 NCBI chr 3:113,398,716...113,423,798
Ensembl chr 3:113,398,716...113,423,798 		JBrowse link
Marshall/Stickler Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen, type XI, alpha 1 ISO ClinVar Annotator: match by term: Marshall/Stickler syndrome ClinVar PMID:1536174 PMID:10486316 NCBI chr 3:113,823,933...114,014,405
Ensembl chr 3:113,824,189...114,014,367 		JBrowse link
Naegeli-Franceschetti-Jadassohn syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt14 keratin 14 ISO ClinVar Annotator: match by term: NFJ syndrome | ClinVar Annotator: match by term: Naegeli-Franceschetti-Jadassohn syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8496458 PMID:13141721 PMID:16960809 PMID:25741868 PMID:28492532 NCBI chr11:100,093,988...100,098,336
Ensembl chr11:100,093,988...100,098,374 		JBrowse link
Neurocutaneous Melanosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nras neuroblastoma ras oncogene ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neurocutaneous melanosis syndrome		 OMIM
CTD
ClinVar		 PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230 		JBrowse link
Neurocutaneous Syndromes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO DNA:missense mutation;exon:2350C>T(p.H784Y)(human) RGD PMID:18478038 RGD:13439711 NCBI chr19:40,538,701...40,576,907
Ensembl chr19:40,538,701...40,576,907 		JBrowse link
G Mre11a MRE11A homolog A, double strand break repair nuclease ISO DNA:missense mutation:cds:W210C (human) RGD PMID:15574463 RGD:2317722 NCBI chr 9:14,695,971...14,748,421
Ensembl chr 9:14,695,950...14,748,419 		JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31570889 NCBI chr 9:108,183,359...108,215,142
Ensembl chr 9:108,183,328...108,215,133 		JBrowse link
neurofibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neurofibromatosis | ClinVar Annotator: match by term: Neurofibromatosis type 6		 CTD
ClinVar		 PMID:9150739 PMID:9180088 PMID:10678181 PMID:10712197 PMID:14722917 More... NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438 		JBrowse link
G Spred1 sprouty protein with EVH-1 domain 1, related sequence ISO ClinVar Annotator: match by term: Neurofibromatosis ClinVar PMID:17704776 PMID:24469042 PMID:25741868 PMID:28492532 NCBI chr 2:116,951,576...117,012,760
Ensembl chr 2:116,951,855...117,012,760 		JBrowse link
neurofibromatosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd15 abhydrolase domain containing 15 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:77,405,943...77,411,454
Ensembl chr11:77,405,947...77,429,433 		JBrowse link
G Adap2 ArfGAP with dual PH domains 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:80,044,869...80,071,449
Ensembl chr11:80,044,931...80,069,784 		JBrowse link
G Ankrd13b ankyrin repeat domain 13b ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:77,361,311...77,380,868
Ensembl chr11:77,361,311...77,380,504 		JBrowse link
G Atad5 ATPase family, AAA domain containing 5 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:79,980,205...80,026,623
Ensembl chr11:79,980,226...80,026,620 		JBrowse link
G Bglap bone gamma carboxyglutamate protein ISO protein:decreased expression:blood RGD PMID:22120694 RGD:6483542 NCBI chr 3:88,290,802...88,291,773
Ensembl chr 3:88,290,808...88,291,771 		JBrowse link
G Blmh bleomycin hydrolase ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:76,836,482...76,878,215
Ensembl chr11:76,815,635...76,878,205 		JBrowse link
G Coro6 coronin 6 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:77,353,149...77,361,310
Ensembl chr11:77,353,237...77,361,310 		JBrowse link
G Cpd carboxypeptidase D ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:76,668,034...76,737,834
Ensembl chr11:76,669,250...76,737,844 		JBrowse link
G Crlf3 cytokine receptor-like factor 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:79,937,319...79,971,976
Ensembl chr11:79,937,319...79,971,817 		JBrowse link
G Cryba1 crystallin, beta A1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:77,609,440...77,616,119
Ensembl chr11:77,609,441...77,616,109 		JBrowse link
G Efcab5 EF-hand calcium binding domain 5 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:76,980,236...77,106,926
Ensembl chr11:76,980,741...77,079,794 		JBrowse link
G Evi2a ecotropic viral integration site 2a ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:1568247 PMID:8116612 PMID:8931693 PMID:9643287 PMID:10587576 More... NCBI chr11:79,417,386...79,421,435
Ensembl chr11:79,417,386...79,421,435 		JBrowse link
G Evi2b ecotropic viral integration site 2b ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:1568247 PMID:8116612 PMID:8931693 PMID:9643287 PMID:10587576 More... NCBI chr11:79,404,211...79,414,588
Ensembl chr11:79,405,882...79,414,588 		JBrowse link
G Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:25741868 NCBI chr17:37,356,888...37,385,197
Ensembl chr17:37,356,858...37,385,959 		JBrowse link
G Git1 GIT ArfGAP 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:77,384,114...77,398,600
Ensembl chr11:77,384,388...77,398,612 		JBrowse link
G Gosr1 golgi SNAP receptor complex member 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:76,617,428...76,654,404
Ensembl chr11:76,617,428...76,654,405 		JBrowse link
G Nf1 neurofibromin 1 ISO
IAGP
IMP		 ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Peripheral type neurofibromatosis
ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Von Recklinghausen disease
OMIM:162200
DNA:multiple:multiple (human)
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:190611 PMID:1071297 PMID:1302608 PMID:1370276 PMID:1483690 More... RGD:1580933, RGD:151708706, RGD:1302540 NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438 		JBrowse link
G Nf2 neurofibromin 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar NCBI chr11:4,715,845...4,799,544
Ensembl chr11:4,715,845...4,799,536 		JBrowse link
G Nsrp1 nuclear speckle regulatory protein 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:76,935,118...76,969,263
Ensembl chr11:76,935,118...76,969,261 		JBrowse link
G Nufip2 nuclear FMR1 interacting protein 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:77,576,566...77,608,792
Ensembl chr11:77,576,981...77,632,747 		JBrowse link
G Omg oligodendrocyte myelin glycoprotein ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:1568247 PMID:8116612 PMID:8931693 PMID:9643287 PMID:10587576 More... NCBI chr11:79,391,808...79,394,908
Ensembl chr11:79,391,808...79,394,910 		JBrowse link
G Rnf135 ring finger protein 135 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:80,074,652...80,090,581
Ensembl chr11:80,074,677...80,090,583 		JBrowse link
G Slc6a4 solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:76,889,423...76,923,169
Ensembl chr11:76,889,429...76,923,166 		JBrowse link
G Spred1 sprouty protein with EVH-1 domain 1, related sequence ISO CTD Direct Evidence: marker/mechanism CTD PMID:17704776 NCBI chr 2:116,951,576...117,012,760
Ensembl chr 2:116,951,855...117,012,760 		JBrowse link
G Ssh2 slingshot protein phosphatase 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:77,107,020...77,351,046
Ensembl chr11:77,107,113...77,351,046 		JBrowse link
G Taok1 TAO kinase 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:77,419,988...77,516,185
Ensembl chr11:77,419,988...77,498,641 		JBrowse link
G Tefm transcription elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:80,027,500...80,033,697
Ensembl chr11:80,027,504...80,033,001 		JBrowse link
G Tmigd1 transmembrane and immunoglobulin domain containing 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:76,781,946...76,807,413
Ensembl chr11:76,792,985...76,807,413 		JBrowse link
G Trp53i13 transformation related protein 53 inducible protein 13 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr11:77,398,925...77,404,214
Ensembl chr11:77,398,925...77,406,806 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA,protein:increased expression:dermis RGD PMID:12930297 RGD:8547970 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
neurofibromatosis-Noonan syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map2k2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:28492532 NCBI chr10:80,941,749...80,960,531
Ensembl chr10:80,941,749...80,969,809 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Neurofibromatosis with Noonan phenotype | ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:190611 PMID:1568246 PMID:1757093 PMID:1783401 PMID:2114220 More... NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:22465605 PMID:28074573 PMID:28492532 NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
G Spred1 sprouty protein with EVH-1 domain 1, related sequence ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:116,951,576...117,012,760
Ensembl chr 2:116,951,855...117,012,760 		JBrowse link
nonsyndromic aplasia cutis congenita term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bms1 BMS1, ribosome biogenesis factor ISO OMIM NCBI chr 6:118,360,342...118,396,772
Ensembl chr 6:118,360,342...118,396,435 		JBrowse link
oculoectodermal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cluap1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome ClinVar PMID:26820066 NCBI chr16:3,725,058...3,760,163
Ensembl chr16:3,726,665...3,759,011 		JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO ClinVar Annotator: match by term: Aplasia cutis congenita with epibulbar dermoids | ClinVar Annotator: match by term: OCULOECTODERMAL SYNDROME, SOMATIC | ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome OMIM
ClinVar		 PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:8456858 More... NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965 		JBrowse link
G Nlrp5 NLR family, pyrin domain containing 5 ISO ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome ClinVar PMID:20738330 PMID:26323243 NCBI chr 7:23,085,314...23,141,348
Ensembl chr 7:23,085,314...23,141,347 		JBrowse link
Odontoonychodermal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt10a wingless-type MMTV integration site family, member 10A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Odontoonychodermal dysplasia		 OMIM
CTD
ClinVar		 PMID:2897600 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17847007 More... NCBI chr 1:74,831,178...74,843,335
Ensembl chr 1:74,830,675...74,843,338 		JBrowse link
Ohdo syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12 mediator complex subunit 12 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:100,317,697...100,342,540
Ensembl chr  X:100,317,636...100,341,071 		JBrowse link
Ohdo syndrome, SBBYS variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat6b K(lysine) acetyltransferase 6B ISO DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type | ClinVar Annotator: match by term: Say-Barber-Biesecker-Young-Simpson variant of Ohdo Syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:22265014 More... RGD:9588484 NCBI chr14:21,549,284...21,722,546
Ensembl chr14:21,531,502...21,722,546 		JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:32694869 NCBI chr19:26,582,578...26,755,721
Ensembl chr19:26,582,450...26,755,722 		JBrowse link
G Ube3b ubiquitin protein ligase E3B ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:25741868 NCBI chr 5:114,518,578...114,559,226
Ensembl chr 5:114,518,668...114,559,230 		JBrowse link
Ohdo Syndrome, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNER TYPE | ClinVar Annotator: match by term: Ohdo syndrome, X-linked
DNA:missense mutations:cds:c.3443G>A (p.R1148H),c.3493T>C (p.S1165P),c.5185C>A (p.H1729N)(human)		 OMIM
ClinVar
RGD		 PMID:8279489 PMID:10405444 PMID:16700052 PMID:17334363 PMID:17369503 More... RGD:12910951 NCBI chr  X:100,317,697...100,342,540
Ensembl chr  X:100,317,636...100,341,071 		JBrowse link
orofacial cleft 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Orofacial cleft 7 ClinVar PMID:10932188 PMID:11559849 NCBI chr 9:43,655,251...43,718,758
Ensembl chr 9:43,655,281...43,743,955 		JBrowse link
pachyonychia congenita term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt16 keratin 16 IAGP
ISO		 OMIM:167200 | OMIM:167210
CTD Direct Evidence: marker/mechanism		 MouseDO
CTD		 NCBI chr11:100,136,917...100,139,728
Ensembl chr11:100,136,917...100,139,728 		JBrowse link
G Krt17 keratin 17 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:100,147,041...100,151,855
Ensembl chr11:100,147,043...100,151,855 		JBrowse link
G Krt6a keratin 6A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PC-K6a		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr15:101,598,363...101,602,746
Ensembl chr15:101,598,345...101,602,742 		JBrowse link
G Krt6b keratin 6B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:101,584,458...101,588,728
Ensembl chr15:101,584,458...101,588,722 		JBrowse link
Pachyonychia Congenita 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt16 keratin 16 ISO ClinVar Annotator: match by term: Pachyonychia congenita 1 OMIM
ClinVar		 PMID:8595410 PMID:10606845 PMID:10839714 PMID:11359398 PMID:11886499 More... NCBI chr11:100,136,917...100,139,728
Ensembl chr11:100,136,917...100,139,728 		JBrowse link
Pachyonychia Congenita 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt17 keratin 17 ISO ClinVar Annotator: match by term: Pachyonychia congenita 2 OMIM
ClinVar		 PMID:2248894 PMID:3954955 PMID:7529318 PMID:7539673 PMID:9008238 More... NCBI chr11:100,147,041...100,151,855
Ensembl chr11:100,147,043...100,151,855 		JBrowse link
G Krt6b keratin 6B ISO ClinVar Annotator: match by term: Pachyonychia congenita 2 ClinVar PMID:25741868 NCBI chr15:101,584,458...101,588,728
Ensembl chr15:101,584,458...101,588,722 		JBrowse link
Pachyonychia Congenita 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt6a keratin 6A ISO ClinVar Annotator: match by term: Pachyonychia congenita 3 OMIM
ClinVar		 PMID:11886499 PMID:16250206 PMID:17309457 PMID:21326300 PMID:22668561 More... NCBI chr15:101,598,363...101,602,746
Ensembl chr15:101,598,345...101,602,742 		JBrowse link
Pachyonychia Congenita 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt6b keratin 6B ISO ClinVar Annotator: match by term: Pachyonychia congenita 4 OMIM
ClinVar		 PMID:9618173 PMID:16250206 PMID:24354895 PMID:24611874 PMID:25741868 More... NCBI chr15:101,584,458...101,588,728
Ensembl chr15:101,584,458...101,588,722 		JBrowse link
palmoplantar keratoderma and congenital alopecia 1 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: Autosomal dominant palmoplantar keratoderma and congenital alopecia OMIM
ClinVar		 PMID:12457340 PMID:15879313 PMID:25168385 PMID:25327171 PMID:25741868 More... NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609 		JBrowse link
Papillon-Lefevre disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctsc cathepsin C ISO DNA:nonsense mutation, deletion, substitution: ;856C>T,2692delA,2931G>A
ClinVar Annotator: match by term: Keratosis palmoplantaris with periodontopathia | ClinVar Annotator: match by term: Papillon-Lefevre Disease | ClinVar Annotator: match by term: Papillon-Lefèvre syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:10581027 PMID:10593994 PMID:10662807 PMID:10662808 PMID:11106356 More... RGD:1599638 NCBI chr 7:87,927,233...87,960,083
Ensembl chr 7:87,927,293...87,960,096 		JBrowse link
PHACE Association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf Braf transforming gene ISO ClinVar Annotator: match by term: PHACES association ClinVar PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 More... NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397 		JBrowse link
photosensitive trichothiodystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9195225 More... NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619 		JBrowse link
G Gtf2h5 general transcription factor IIH, polypeptide 5 ISO RGD PMID:22824526 RGD:7246919 NCBI chr17:6,130,103...6,135,763
Ensembl chr17:6,130,061...6,136,792 		JBrowse link
G Mplkip M-phase specific PLK1 intereacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chr13:17,869,998...17,873,697
Ensembl chr13:17,869,777...17,874,333 		JBrowse link
Rapp-Hodgkin syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trp63 transformation related protein 63 ISO ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with cleft lip/palate
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10535733 PMID:10839977 PMID:10886756 PMID:11462173 More... NCBI chr16:25,502,513...25,710,842
Ensembl chr16:25,502,513...25,710,852 		JBrowse link
scalp-ear-nipple syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kctd1 potassium channel tetramerisation domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Scalp-ear-nipple syndrome		 OMIM
CTD
ClinVar		 PMID:1799422 PMID:8042668 PMID:9383029 PMID:10517259 PMID:16411189 More... NCBI chr18:15,101,742...15,284,503
Ensembl chr18:15,101,742...15,284,503 		JBrowse link
Schinzel Giedion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: SETBP1-related condition | ClinVar Annotator: match by term: Schinzel-Giedion syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18398855 PMID:18414213 PMID:20436468 PMID:21037274 PMID:21371013 More... NCBI chr18:78,793,593...79,153,659
Ensembl chr18:78,793,595...79,152,606 		JBrowse link
Schopf-Schulz-Passarge syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt10a wingless-type MMTV integration site family, member 10A ISO ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS | ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199547 PMID:17847007 PMID:19471313 PMID:19559398 PMID:20163410 More... NCBI chr 1:74,831,178...74,843,335
Ensembl chr 1:74,830,675...74,843,338 		JBrowse link
schwannomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lztr1 leucine-zipper-like transcriptional regulator, 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Schwannomatosis
DNA, protein:multiple, multiple:multiple, blood (human)
DNA:multiple:multiple (human)		 CTD
ClinVar
RGD		 PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 More... RGD:151708709, RGD:151708708, RGD:151708704 NCBI chr16:17,326,124...17,344,197
Ensembl chr16:17,326,552...17,344,197 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neurilemmomatosis congenital cutaneous | ClinVar Annotator: match by term: Schwannomatosis
DNA:missense mutation, loss of heterozygosity:cds: c.143C>T (human)
DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human)
DNA:multiple:multiple (human)		 CTD
ClinVar
RGD		 PMID:10521299 PMID:18647326 PMID:21208904 PMID:22434358 PMID:24362817 More... RGD:155804288, RGD:151708708, RGD:151708704 NCBI chr10:75,732,603...75,757,448
Ensembl chr10:75,732,603...75,757,451 		JBrowse link
schwannomatosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nf2 neurofibromin 2 ISO ClinVar Annotator: match by term: Schwannomatosis 1 ClinVar PMID:7798645 PMID:9399891 PMID:25741868 NCBI chr11:4,715,845...4,799,544
Ensembl chr11:4,715,845...4,799,536 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Schwannomatosis 1 | ClinVar Annotator: match by term: Schwannomatosis 1, somatic ClinVar
OMIM		 PMID:10521299 PMID:17357086 PMID:18285426 PMID:18414213 PMID:18647326 More... NCBI chr10:75,732,603...75,757,448
Ensembl chr10:75,732,603...75,757,451 		JBrowse link
schwannomatosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lztr1 leucine-zipper-like transcriptional regulator, 1 ISO ClinVar Annotator: match by term: Schwannomatosis 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23917401 PMID:23999291 More... NCBI chr16:17,326,124...17,344,197
Ensembl chr16:17,326,552...17,344,197 		JBrowse link
Sebaceous Nevus Syndrome and Hemimegalencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hras Harvey rat sarcoma virus oncogene ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:12835555 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 More... NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918 		JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12110640 More... NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:12835555 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 More... NCBI chr 7:140,774,024...140,789,968
Ensembl chr 7:140,774,070...140,789,968 		JBrowse link
G Nras neuroblastoma ras oncogene ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230 		JBrowse link
Sebocystomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt17 keratin 17 ISO ClinVar Annotator: match by term: Sebocystomatosis ClinVar PMID:2248894 PMID:7529318 PMID:9008238 PMID:9767294 PMID:22336949 More... NCBI chr11:100,147,041...100,151,855
Ensembl chr11:100,147,043...100,151,855 		JBrowse link
spinal neurofibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, familial spinal
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:190611 PMID:1511985 PMID:1568246 PMID:1568247 PMID:1745350 More... NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438 		JBrowse link
steatocystoma multiplex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt17 keratin 17 ISO ClinVar Annotator: match by term: Multiple sebaceous cysts | ClinVar Annotator: match by term: Steatocystoma multiplex
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2248894 PMID:7529318 PMID:9008238 PMID:9767294 PMID:11809119 More... NCBI chr11:100,147,041...100,151,855
Ensembl chr11:100,147,043...100,151,855 		JBrowse link
Sturge-Weber syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Parkes Weber syndrome ClinVar PMID:24038909 PMID:25741868 PMID:27081547 PMID:28492532 PMID:28655553 More... NCBI chr13:85,337,504...85,361,850
Ensembl chr13:85,337,527...85,371,588 		JBrowse link
G Fn1 fibronectin 1 ISO mRNA, protein:increased expression:cerebral cortex RGD PMID:12621118 RGD:1358624 NCBI chr 1:71,624,632...71,692,439
Ensembl chr 1:71,624,679...71,692,359 		JBrowse link
G Gnaq guanine nucleotide binding protein, alpha q polypeptide ISO ClinVar Annotator: match by term: Sturge-Weber syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1328859 PMID:2549426 PMID:18719078 PMID:19078957 PMID:21083380 More... NCBI chr19:16,110,048...16,365,884
Ensembl chr19:16,110,195...16,364,827 		JBrowse link
G Map2k1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Parkes Weber syndrome ClinVar PMID:25741868 NCBI chr 9:64,093,066...64,160,887
Ensembl chr 9:64,093,052...64,160,913 		JBrowse link
G Mmp2 matrix metallopeptidase 2 severity ISO protein:increased expression:urine RGD PMID:23720035 RGD:13204823 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO protein:increased expression:urine RGD PMID:23720035 RGD:13204823 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Parkes Weber syndrome ClinVar PMID:22200646 PMID:23801933 PMID:24038909 PMID:25741868 PMID:27081547 More... NCBI chr13:85,362,893...85,437,487
Ensembl chr13:85,362,899...85,437,249 		JBrowse link
tuberous sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO protein:decreased expression, altered localization:cerebral cortex: RGD PMID:22752548 RGD:9068443 NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		JBrowse link
G Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 treatment ISO RGD PMID:12384518 RGD:1549429 NCBI chr 8:27,750,355...27,765,684
Ensembl chr 8:27,750,357...27,766,702 		JBrowse link
G Flna filamin, alpha ISO protein:increased expression:prefrontal cortex (human) RGD PMID:25277454 RGD:11565117 NCBI chr  X:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: therapeutic CTD PMID:16845661 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebral cortex RGD PMID:22459050 RGD:8547829 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Tuberous sclerosis syndrome ClinVar NCBI chr17:24,767,657...24,815,457
Ensembl chr17:24,768,808...24,815,482 		JBrowse link
G Tsc1 TSC complex subunit 1 susceptibility ISO
IAGP
IMP		 DNA:nonsense mutations, deletion: :multiple
ClinVar Annotator: match by term: Cortical tubers | ClinVar Annotator: match by term: Tuberous sclerosis syndrome
OMIM:191100 | OMIM:613254
DNA:nonsense mutation:exon:p.R509X (c.1525C>T) (human)
DNA:deletions, duplication, point mutation:exon, intron:multiple
CTD Direct Evidence: marker/mechanism		 ClinVar
RGD
MouseDO
CTD		 PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 PMID:9863590 More... RGD:1624196, RGD:1624196, RGD:11073512, RGD:11570511, RGD:11062248 NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cortical tubers | ClinVar Annotator: match by term: Tuberous sclerosis syndrome
OMIM:191100 | OMIM:613254
DNA:mutations:exon, intron:multiple		 CTD
ClinVar
MouseDO
RGD		 PMID:1112665 PMID:1520333 PMID:1870099 PMID:2039137 PMID:2903760 More... RGD:11062248, RGD:11568672 NCBI chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604 		JBrowse link
tuberous sclerosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca2 ATP-binding cassette, sub-family A member 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,318,611...25,338,556
Ensembl chr 2:25,318,715...25,338,552 		JBrowse link
G Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:26,732,508...26,754,973
Ensembl chr 2:26,732,515...26,754,991 		JBrowse link
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:26,863,363...26,899,638
Ensembl chr 2:26,863,428...26,899,640 		JBrowse link
G Adamtsl2 ADAMTS-like 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:26,969,348...26,998,993
Ensembl chr 2:26,969,391...26,998,993 		JBrowse link
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:26,483,069...26,494,429
Ensembl chr 2:26,483,069...26,494,429 		JBrowse link
G Ajm1 apical junction component 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,465,428...25,471,760
Ensembl chr 2:25,465,428...25,471,769 		JBrowse link
G Ak8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:28,588,287...28,703,177
Ensembl chr 2:28,590,176...28,703,177 		JBrowse link
G Barhl1 BarH like homeobox 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:28,797,692...28,807,996
Ensembl chr 2:28,797,691...28,806,680 		JBrowse link
G Brd3 bromodomain containing 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:27,335,588...27,397,669
Ensembl chr 2:27,335,591...27,397,674 		JBrowse link
G C8g complement component 8, gamma polypeptide ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,388,662...25,391,731
Ensembl chr 2:25,388,663...25,391,731 		JBrowse link
G Cacfd1 calcium channel flower domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:26,899,867...26,911,102
Ensembl chr 2:26,899,938...26,911,101 		JBrowse link
G Camsap1 calmodulin regulated spectrin-associated protein 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,816,850...25,873,574
Ensembl chr 2:25,816,850...25,873,294 		JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:26,242,199...26,250,957
Ensembl chr 2:26,242,188...26,250,930 		JBrowse link
G Ccdc183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,498,641...25,507,690
Ensembl chr 2:25,498,647...25,507,690 		JBrowse link
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:28,445,831...28,453,415
Ensembl chr 2:28,445,807...28,453,415 		JBrowse link
G Cfap77 cilia and flagella associated protein 77 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:28,845,493...28,945,078
Ensembl chr 2:28,816,961...28,945,078 		JBrowse link
G Clic3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,346,855...25,348,789
Ensembl chr 2:25,346,850...25,348,788 		JBrowse link
G Col5a1 collagen, type V, alpha 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:27,776,393...27,929,522
Ensembl chr 2:27,776,437...27,929,526 		JBrowse link
G Dbh dopamine beta hydroxylase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:27,055,519...27,073,216
Ensembl chr 2:27,055,245...27,073,212 		JBrowse link
G Ddx31 DEAD/H box helicase 31 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:28,730,418...28,795,587
Ensembl chr 2:28,730,418...28,795,583 		JBrowse link
G Dipk1b divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:26,518,469...26,526,509
Ensembl chr 2:26,518,469...26,526,509 		JBrowse link
G Dnlz DNL-type zinc finger ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:26,238,130...26,242,122
Ensembl chr 2:26,238,133...26,242,122 		JBrowse link
G Dpp7 dipeptidylpeptidase 7 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,242,302...25,246,365
Ensembl chr 2:25,242,288...25,246,371 		JBrowse link
G Edf1 endothelial differentiation-related factor 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,447,838...25,452,096
Ensembl chr 2:25,447,859...25,452,094 		JBrowse link
G Egfl7 EGF-like domain 7 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:26,471,095...26,482,694
Ensembl chr 2:26,470,026...26,483,132 		JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,285,886...25,291,335
Ensembl chr 2:25,285,886...25,291,333 		JBrowse link
G Entr1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:26,272,810...26,279,352
Ensembl chr 2:26,272,814...26,279,328 		JBrowse link
G Fam163b family with sequence similarity 163, member B ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:27,000,391...27,032,489
Ensembl chr 2:27,000,392...27,032,503 		JBrowse link
G Fbxw5 F-box and WD-40 domain protein 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,390,762...25,395,482
Ensembl chr 2:25,390,762...25,395,483 		JBrowse link
G Fcnb ficolin B ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:27,966,491...27,974,921
Ensembl chr 2:27,966,390...27,974,897 		JBrowse link
G Fut7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,312,363...25,316,386
Ensembl chr 2:25,313,279...25,316,386 		JBrowse link
G Gbgt1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:28,369,368...28,396,048
Ensembl chr 2:28,386,903...28,395,427 		JBrowse link
G Gfi1b growth factor independent 1B ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:28,499,462...28,511,994
Ensembl chr 2:28,499,462...28,511,994 		JBrowse link
G Glt6d1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,673,474...25,705,908
Ensembl chr 2:25,683,871...25,705,860 		JBrowse link
G Gm25541 predicted gene, 25541 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:27,429,817...27,429,942
Ensembl chr 2:27,429,817...27,429,942 		JBrowse link
G Gpsm1 G-protein signalling modulator 1 (AGS3-like, C. elegans) ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:26,204,623...26,238,249
Ensembl chr 2:26,205,527...26,238,249 		JBrowse link
G Grin1 glutamate receptor, ionotropic, NMDA1 (zeta 1) ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,181,189...25,209,199
Ensembl chr 2:25,181,193...25,209,199 		JBrowse link
G Gtf3c4 general transcription factor IIIC, polypeptide 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:28,712,311...28,730,628
Ensembl chr 2:28,712,311...28,730,372 		JBrowse link
G Gtf3c5 general transcription factor IIIC, polypeptide 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:28,456,257...28,473,291
Ensembl chr 2:28,456,323...28,473,763 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:26,286,261...26,299,313
Ensembl chr 2:26,286,261...26,299,215 		JBrowse link
G Kcnt1 potassium channel, subfamily T, member 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,753,807...25,808,285
Ensembl chr 2:25,753,746...25,808,285 		JBrowse link
G Lcn10 lipocalin 10 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,572,738...25,576,093
Ensembl chr 2:25,572,738...25,576,093 		JBrowse link
G Lcn11 lipocalin 11 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,667,029...25,670,291
Ensembl chr 2:25,667,029...25,670,291 		JBrowse link
G Lcn12 lipocalin 12 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,380,857...25,384,073
Ensembl chr 2:25,380,857...25,383,923 		JBrowse link
G Lcn15 lipocalin 15 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,534,156...25,538,813 JBrowse link
G Lcn3 lipocalin 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,655,545...25,658,110
Ensembl chr 2:25,655,581...25,658,111 		JBrowse link
G Lcn6 lipocalin 6 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,566,650...25,571,620
Ensembl chr 2:25,566,798...25,571,620 		JBrowse link
G Lcn8 lipocalin 8 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,543,130...25,546,229
Ensembl chr 2:25,543,132...25,546,229 		JBrowse link
G Lcn9 lipocalin 9 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,713,100...25,715,558
Ensembl chr 2:25,713,165...25,715,549 		JBrowse link
G Lhx3 LIM homeobox protein 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:26,090,224...26,098,261
Ensembl chr 2:26,090,224...26,098,301 		JBrowse link
G Mamdc4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,453,124...25,461,328
Ensembl chr 2:25,453,127...25,464,857 		JBrowse link
G Man1b1 mannosidase, alpha, class 1B, member 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,222,742...25,242,225
Ensembl chr 2:25,222,350...25,242,224 		JBrowse link
G Med22 mediator complex subunit 22 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:26,795,279...26,800,654
Ensembl chr 2:26,795,274...26,800,689 		JBrowse link
G Mir126a microRNA 126a ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:26,481,369...26,481,441
Ensembl chr 2:26,481,369...26,481,441 		JBrowse link
G Mrps2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:28,355,963...28,361,189
Ensembl chr 2:28,358,078...28,361,190 		JBrowse link
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:26,951,648...26,962,173
Ensembl chr 2:26,951,648...26,962,191 		JBrowse link
G Nacc2 nucleus accumbens associated 2, BEN and BTB (POZ) domain containing ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,945,547...26,012,823
Ensembl chr 2:25,945,547...26,013,232 		JBrowse link
G Notch1 notch 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675 		JBrowse link
G Npdc1 neural proliferation, differentiation and control 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,293,067...25,299,504
Ensembl chr 2:25,289,363...25,299,506 		JBrowse link
G Obp2a odorant binding protein 2A ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,587,589...25,593,338
Ensembl chr 2:25,590,055...25,593,338 		JBrowse link
G Obp2b odorant binding protein 2B ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,604,120...25,630,136
Ensembl chr 2:25,627,021...25,630,109 		JBrowse link
G Olfm1 olfactomedin 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:28,083,105...28,120,748
Ensembl chr 2:28,083,004...28,120,748 		JBrowse link
G Paxx non-homologous end joining factor ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,345,132...25,352,666
Ensembl chr 2:25,345,153...25,351,106 		JBrowse link
G Phpt1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,463,442...25,465,528
Ensembl chr 2:25,463,442...25,465,236 		JBrowse link
G Pierce1 piercer of microtubule wall 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:28,352,013...28,356,336
Ensembl chr 2:28,352,013...28,356,344 		JBrowse link
G Pmpca peptidase (mitochondrial processing) alpha ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:26,275,554...26,287,134
Ensembl chr 2:26,279,351...26,287,134 		JBrowse link
G Ppp1r26 protein phosphatase 1, regulatory subunit 26 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:28,336,613...28,345,520
Ensembl chr 2:28,336,812...28,345,520 		JBrowse link
G Ptgds prostaglandin D2 synthase (brain) ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,356,723...25,360,080
Ensembl chr 2:25,356,721...25,360,058 		JBrowse link
G Qsox2 quiescin Q6 sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:26,099,136...26,127,411
Ensembl chr 2:26,098,649...26,127,537 		JBrowse link
G Rabl6 RAB, member RAS oncogene family-like 6 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,473,029...25,498,493
Ensembl chr 2:25,473,030...25,498,533 		JBrowse link
G Ralgds ral guanine nucleotide dissociation stimulator ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:28,403,037...28,443,085
Ensembl chr 2:28,403,137...28,443,093 		JBrowse link
G Rexo4 REX4, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:26,843,575...26,854,398
Ensembl chr 2:26,843,575...26,854,398 		JBrowse link
G Rpl7a ribosomal protein L7A ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:26,800,697...26,803,330
Ensembl chr 2:26,800,776...26,803,330 		JBrowse link
G Rxra retinoid X receptor alpha ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:27,566,457...27,653,331
Ensembl chr 2:27,566,452...27,652,969 		JBrowse link
G Sapcd2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,261,974...25,268,225
Ensembl chr 2:25,262,333...25,268,225 		JBrowse link
G Sardh sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:27,078,405...27,138,344
Ensembl chr 2:27,078,405...27,138,349 		JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:26,299,443...26,336,138
Ensembl chr 2:26,299,443...26,335,228 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:29,013,600...29,072,483
Ensembl chr 2:29,014,193...29,072,483 		JBrowse link
G Slc2a6 solute carrier family 2 (facilitated glucose transporter), member 6 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:26,911,375...26,918,011
Ensembl chr 2:26,911,375...26,918,010 		JBrowse link
G Snapc4 small nuclear RNA activating complex, polypeptide 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:26,252,777...26,270,666
Ensembl chr 2:26,252,777...26,270,665 		JBrowse link
G Snhg7 small nucleolar RNA host gene 7 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:26,527,188...26,530,256
Ensembl chr 2:26,527,180...26,530,295 		JBrowse link
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,733,007...25,737,347
Ensembl chr 2:25,733,007...25,737,260 		JBrowse link
G Spaca9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:28,582,092...28,589,663
Ensembl chr 2:28,582,092...28,589,739 		JBrowse link
G Stkld1 serine/threonine kinase-like domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:26,823,533...26,843,508
Ensembl chr 2:26,824,059...26,843,508 		JBrowse link
G Surf1 surfeit gene 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:26,803,390...26,806,667
Ensembl chr 2:26,803,393...26,806,542 		JBrowse link
G Surf2 surfeit gene 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:26,806,420...26,810,199
Ensembl chr 2:26,806,379...26,810,195 		JBrowse link
G Surf4 surfeit gene 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:26,810,052...26,823,801
Ensembl chr 2:26,810,052...26,823,940 		JBrowse link
G Surf6 surfeit gene 6 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:26,780,430...26,792,899
Ensembl chr 2:26,778,640...26,792,891 		JBrowse link
G Tmem141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,510,078...25,512,059
Ensembl chr 2:25,510,079...25,512,017 		JBrowse link
G Tmem250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:26,026,819...26,030,518
Ensembl chr 2:26,026,826...26,030,533 		JBrowse link
G Traf2 TNF receptor-associated factor 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,407,994...25,436,952
Ensembl chr 2:25,407,994...25,436,952 		JBrowse link
G Tsc1 TSC complex subunit 1 treatment ISO ClinVar Annotator: match by term: Tuberous sclerosis 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 PMID:9863590 More... RGD:11570507 NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:10205261 PMID:17304050 PMID:21520333 PMID:25741868 PMID:27859028 More... NCBI chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604 		JBrowse link
G Ttf1 transcription termination factor, RNA polymerase I ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:28,950,211...28,977,668
Ensembl chr 2:28,950,274...28,977,668 		JBrowse link
G Uap1l1 UDP-N-acteylglucosamine pyrophosphorylase 1-like 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,251,501...25,255,695
Ensembl chr 2:25,249,901...25,255,694 		JBrowse link
G Ubac1 ubiquitin associated domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:25,886,970...25,911,793
Ensembl chr 2:25,888,555...25,911,759 		JBrowse link
G Vav2 vav 2 oncogene ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:27,152,116...27,317,620
Ensembl chr 2:27,152,116...27,317,045 		JBrowse link
G Wdr5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 2:27,405,159...27,426,547
Ensembl chr 2:27,405,169...27,426,547 		JBrowse link
tuberous sclerosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antkmt adenine nucleotide translocase lysine methyltransferase ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:26,009,474...26,011,761
Ensembl chr17:26,009,054...26,011,875 		JBrowse link
G Baiap3 BAI1-associated protein 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:25,461,633...25,475,255
Ensembl chr17:25,461,633...25,475,338 		JBrowse link
G Bricd5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr17:24,692,858...24,694,443
Ensembl chr17:24,692,858...24,694,443 		JBrowse link
G Cacna1h calcium channel, voltage-dependent, T type, alpha 1H subunit ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:25,593,259...25,655,308
Ensembl chr17:25,593,259...25,652,759 		JBrowse link
G Caskin1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr17:24,706,871...24,727,883
Ensembl chr17:24,707,575...24,727,645 		JBrowse link
G Ccdc154 coiled-coil domain containing 154 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:25,381,142...25,390,887
Ensembl chr17:25,381,435...25,390,887 		JBrowse link
G Ccdc78 coiled-coil domain containing 78 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:26,005,554...26,009,487
Ensembl chr17:26,005,554...26,009,487 		JBrowse link
G Chtf18 CTF18, chromosome transmission fidelity factor 18 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:25,938,004...25,946,409
Ensembl chr17:25,937,900...25,946,393 		JBrowse link
G Ciao3 cytosolic iron-sulfur assembly component 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:25,992,750...26,002,306
Ensembl chr17:25,992,750...26,002,306 		JBrowse link
G Clcn7 chloride channel, voltage-sensitive 7 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:25,352,353...25,381,077
Ensembl chr17:25,352,365...25,381,078 		JBrowse link
G Cramp1 cramped chromatin regulator 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr17:25,180,200...25,234,819
Ensembl chr17:25,180,200...25,234,762 		JBrowse link
G Dnase1l2 deoxyribonuclease 1-like 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr17:24,659,054...24,662,075
Ensembl chr17:24,659,055...24,662,079 		JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr17:24,662,752...24,674,366
Ensembl chr17:24,662,752...24,689,287 		JBrowse link
G Eci1 enoyl-Coenzyme A delta isomerase 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr17:24,645,657...24,658,290
Ensembl chr17:24,645,615...24,658,322 		JBrowse link
G Eme2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr17:25,111,126...25,114,061
Ensembl chr17:25,107,460...25,114,061 		JBrowse link
G Fahd1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr17:25,067,866...25,069,276
Ensembl chr17:25,067,866...25,069,338 		JBrowse link
G Fbxl16 F-box and leucine-rich repeat protein 16 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:26,027,435...26,040,236
Ensembl chr17:26,028,059...26,040,229 		JBrowse link
G Gfer growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr17:24,912,164...24,915,065
Ensembl chr17:24,912,161...24,915,503 		JBrowse link
G Gng13 guanine nucleotide binding protein (G protein), gamma 13 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:25,936,146...25,938,076
Ensembl chr17:25,936,145...25,938,380 		JBrowse link
G Gnptg N-acetylglucosamine-1-phosphotransferase, gamma subunit ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:25,451,324...25,459,302
Ensembl chr17:25,452,305...25,459,098 		JBrowse link
G Hagh hydroxyacyl glutathione hydrolase ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr17:25,056,863...25,083,424
Ensembl chr17:25,059,117...25,083,424 		JBrowse link
G Haghl hydroxyacylglutathione hydrolase-like ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:25,998,817...26,004,560
Ensembl chr17:25,998,817...26,004,647 		JBrowse link
G Hs3st6 heparan sulfate (glucosamine) 3-O-sulfotransferase 6 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:25741868 PMID:28492532 More... NCBI chr17:24,971,565...24,977,664
Ensembl chr17:24,971,962...24,977,658 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr17:25,235,056...25,318,461
Ensembl chr17:25,235,059...25,318,469 		JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr17:25,096,818...25,100,985
Ensembl chr17:25,084,971...25,100,984 		JBrowse link
G Jmjd8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:26,048,017...26,050,817
Ensembl chr17:26,047,841...26,050,817 		JBrowse link
G Jpt2 Jupiter microtubule associated homolog 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr17:25,161,444...25,179,597
Ensembl chr17:25,156,393...25,179,663 		JBrowse link
G Lmf1 lipase maturation factor 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:25,798,143...25,886,381
Ensembl chr17:25,798,059...25,881,800 		JBrowse link
G Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr17:25,116,480...25,155,951
Ensembl chr17:25,111,127...25,155,942 		JBrowse link
G Mcrip2 MAPK regulated corepressor interacting protein 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:26,082,672...26,087,738
Ensembl chr17:26,082,672...26,087,738 		JBrowse link
G Meiob meiosis specific with OB domains ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:25741868 PMID:28492532 More... NCBI chr17:25,023,275...25,058,762
Ensembl chr17:25,023,263...25,058,762 		JBrowse link
G Metrn meteorin, glial cell differentiation regulator ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:26,013,545...26,016,019
Ensembl chr17:26,012,195...26,016,057 		JBrowse link
G Mettl26 methyltransferase like 26 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:26,094,474...26,096,137
Ensembl chr17:26,094,048...26,096,143 		JBrowse link
G Mlst8 MTOR associated protein, LST8 homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr17:24,692,524...24,698,722
Ensembl chr17:24,692,525...24,698,052 		JBrowse link
G Mrps34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr17:25,114,094...25,115,263
Ensembl chr17:25,114,090...25,116,476 		JBrowse link
G Msln mesothelin ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:25,967,587...25,973,352
Ensembl chr17:25,967,587...25,973,352 		JBrowse link
G Msrb1 methionine sulfoxide reductase B1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:25741868 PMID:28492532 More... NCBI chr17:24,955,567...24,961,752
Ensembl chr17:24,955,616...24,961,752 		JBrowse link
G Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr17:24,941,034...24,943,397
Ensembl chr17:24,941,034...24,943,452 		JBrowse link
G Nherf2 NHERF family PDZ scaffold protein 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr17:24,858,255...24,869,279
Ensembl chr17:24,858,260...24,869,301 		JBrowse link
G Nme3 NME/NM23 nucleoside diphosphate kinase 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr17:25,115,474...25,116,505
Ensembl chr17:25,115,474...25,116,496 		JBrowse link
G Noxo1 NADPH oxidase organizer 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr17:24,915,208...24,919,504
Ensembl chr17:24,915,208...24,919,503 		JBrowse link
G Npw neuropeptide W ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr17:24,876,303...24,877,526
Ensembl chr17:24,876,304...24,877,431 		JBrowse link
G Nthl1 nth (endonuclease III)-like 1 (E.coli) ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr17:24,851,656...24,857,812
Ensembl chr17:24,851,654...24,857,811 		JBrowse link
G Nubp2 nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr17:25,101,585...25,105,423
Ensembl chr17:25,101,585...25,105,323 		JBrowse link
G Pgp phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr17:24,689,400...24,692,084
Ensembl chr17:24,689,366...24,692,084 		JBrowse link
G Pigq phosphatidylinositol glycan anchor biosynthesis, class Q ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:26,145,398...26,161,855
Ensembl chr17:26,145,395...26,163,910 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:9829910 PMID:10205261 PMID:11112665 PMID:15024740 PMID:15874888 More... NCBI chr17:24,767,657...24,815,457
Ensembl chr17:24,768,808...24,815,482 		JBrowse link
G Ptx4 pentraxin 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:25,339,328...25,344,256
Ensembl chr17:25,339,734...25,344,266 		JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr17:24,748,038...24,752,696
Ensembl chr17:24,746,215...24,753,184 		JBrowse link
G Rab40c Rab40C, member RAS oncogene family ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:26,101,088...26,138,688
Ensembl chr17:26,101,088...26,138,701 		JBrowse link
G Rhbdl1 rhomboid like 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:26,053,439...26,056,101
Ensembl chr17:26,053,439...26,056,269 		JBrowse link
G Rhot2 ras homolog family member T2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:26,057,431...26,063,499
Ensembl chr17:26,057,431...26,063,825 		JBrowse link
G Rnf151 ring finger protein 151 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr17:24,934,813...24,937,031
Ensembl chr17:24,934,813...24,937,037 		JBrowse link
G Rpl3l ribosomal protein L3-like ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr17:24,946,800...24,955,117
Ensembl chr17:24,946,794...24,955,117 		JBrowse link
G Rps2 ribosomal protein S2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr17:24,939,037...24,940,901
Ensembl chr17:24,937,090...24,940,903 		JBrowse link
G Rpusd1 RNA pseudouridylate synthase domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:25,943,758...25,950,438
Ensembl chr17:25,946,644...25,950,438 		JBrowse link
G Serpinc1 serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:21264449 PMID:23932013 PMID:25298121 PMID:28492532 NCBI chr 1:160,806,153...160,830,113
Ensembl chr 1:160,806,155...160,833,433 		JBrowse link
G Snhg9 small nucleolar RNA host gene 9 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr17:24,938,505...24,938,939
Ensembl chr17:24,938,496...24,938,961 		JBrowse link
G Snora64 small nucleolar RNA, H/ACA box 64 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr17:24,939,763...24,939,879
Ensembl chr17:24,939,746...24,939,879 		JBrowse link
G Snora78 small nucleolar RNA, H/ACA box 7 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr17:24,938,650...24,938,806
Ensembl chr17:24,938,650...24,938,777 		JBrowse link
G Snord60 small nucleolar RNA, C/D box 60 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr17:24,747,450...24,747,527
Ensembl chr17:24,747,450...24,747,527 		JBrowse link
G Sox8 SRY (sex determining region Y)-box 8 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:25,784,865...25,789,666
Ensembl chr17:25,784,634...25,789,726 		JBrowse link
G Spsb3 splA/ryanodine receptor domain and SOCS box containing 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr17:25,104,956...25,111,124
Ensembl chr17:25,105,617...25,111,126 		JBrowse link
G Sstr5 somatostatin receptor 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:25,708,849...25,716,262
Ensembl chr17:25,708,847...25,733,577 		JBrowse link
G Stub1 STIP1 homology and U-Box containing protein 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:26,049,608...26,051,893
Ensembl chr17:26,049,479...26,052,378 		JBrowse link
G Syngr3 synaptogyrin 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr17:24,904,066...24,908,923
Ensembl chr17:24,904,066...24,908,929 		JBrowse link
G Tbl3 transducin (beta)-like 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr17:24,919,627...24,926,627
Ensembl chr17:24,916,923...24,926,634 		JBrowse link
G Telo2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:25,318,543...25,334,951
Ensembl chr17:25,318,544...25,334,941 		JBrowse link
G Tmem204 transmembrane protein 204 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr17:25,276,676...25,300,088
Ensembl chr17:25,276,676...25,302,565 		JBrowse link
G Tpsab1 tryptase alpha/beta 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:25,562,219...25,564,536
Ensembl chr17:25,562,212...25,564,541 		JBrowse link
G Tpsb2 tryptase beta 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:25,585,282...25,587,070
Ensembl chr17:25,585,170...25,588,079 		JBrowse link
G Tpsg1 tryptase gamma 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:25,588,169...25,593,416
Ensembl chr17:25,588,235...25,593,417 		JBrowse link
G Traf7 TNF receptor-associated factor 7 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr17:24,727,824...24,746,912
Ensembl chr17:24,727,536...24,746,912 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3 PMID:1112665 PMID:1520333 PMID:1870099 PMID:2039137 More... NCBI chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604 		JBrowse link
G Tsr3 TSR3 20S rRNA accumulation ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:25,459,120...25,461,773
Ensembl chr17:25,459,141...25,461,773 		JBrowse link
G Ube2i ubiquitin-conjugating enzyme E2I ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:25,479,484...25,494,965
Ensembl chr17:25,479,482...25,493,856 		JBrowse link
G Unkl unkempt family like zinc finger ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:25,407,336...25,453,417
Ensembl chr17:25,407,371...25,453,417 		JBrowse link
G Uqcc4 ubiquinol-cytochrome c reductase complex assembly factor 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:25,403,535...25,406,636
Ensembl chr17:25,403,528...25,406,636 		JBrowse link
G Wdr24 WD repeat domain 24 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:26,042,601...26,047,704
Ensembl chr17:26,042,601...26,047,704 		JBrowse link
G Wdr90 WD repeat domain 90 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:26,063,708...26,080,489
Ensembl chr17:26,063,745...26,080,475 		JBrowse link
G Wfikkn1 WAP, FS, Ig, KU, and NTR-containing protein 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr17:26,096,602...26,099,832
Ensembl chr17:26,096,602...26,099,832 		JBrowse link
G Zfp598 zinc finger protein 598 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr17:24,888,661...24,900,997
Ensembl chr17:24,888,661...24,900,990 		JBrowse link
vestibular schwannomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1b1 adaptor protein complex AP-1, beta 1 subunit ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,897,320...4,992,731
Ensembl chr11:4,936,824...4,992,791 		JBrowse link
G Ascc2 activating signal cointegrator 1 complex subunit 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,587,698...4,635,699
Ensembl chr11:4,587,747...4,635,699 		JBrowse link
G Cabp7 calcium binding protein 7 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,686,892...4,697,179
Ensembl chr11:4,686,892...4,696,778 		JBrowse link
G Ccdc117 coiled-coil domain containing 117 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,478,887...5,492,217
Ensembl chr11:5,478,887...5,492,187 		JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr 5:110,987,668...111,022,006
Ensembl chr 5:110,987,845...111,022,011 		JBrowse link
G Emid1 EMI domain containing 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,056,265...5,102,322
Ensembl chr11:5,056,265...5,102,257 		JBrowse link
G Ewsr1 Ewing sarcoma breakpoint region 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,019,687...5,049,314
Ensembl chr11:5,019,689...5,049,266 		JBrowse link
G Gas2l1 growth arrest-specific 2 like 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,004,131...5,015,351
Ensembl chr11:5,004,132...5,015,327 		JBrowse link
G Gm30172 predicted gene, 30172 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,225,262...5,225,571 JBrowse link
G Hscb HscB iron-sulfur cluster co-chaperone ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr 5:110,976,945...110,987,647
Ensembl chr 5:110,976,936...110,987,643 		JBrowse link
G Kremen1 kringle containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,141,551...5,212,220
Ensembl chr11:5,141,552...5,211,558 		JBrowse link
G Mtmr3 myotubularin related protein 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,430,867...4,544,863
Ensembl chr11:4,430,867...4,544,863 		JBrowse link
G Nefh neurofilament, heavy polypeptide ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,888,754...4,898,064
Ensembl chr11:4,888,754...4,898,064 		JBrowse link
G Nf2 neurofibromin 2 ISO
IAGP		 ClinVar Annotator: match by term: Bilateral vestibular schwannoma | ClinVar Annotator: match by term: Neurofibromatosis, type 2
OMIM:101000
DNA:multiple:multiple (human)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1479598 PMID:2543905 PMID:3313277 PMID:4000972 PMID:7535084 More... RGD:151708708, RGD:151708704 NCBI chr11:4,715,845...4,799,544
Ensembl chr11:4,715,845...4,799,536 		JBrowse link
G Nipsnap1 nipsnap homolog 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,823,951...4,844,201
Ensembl chr11:4,823,951...4,844,200 		JBrowse link
G Rasl10a RAS-like, family 10, member A ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,008,128...5,010,385
Ensembl chr11:5,008,128...5,010,385 		JBrowse link
G Rhbdd3 rhomboid domain containing 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,048,282...5,056,100
Ensembl chr11:5,048,926...5,056,093 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human) RGD PMID:28365909 RGD:151708708 NCBI chr10:75,732,603...75,757,448
Ensembl chr10:75,732,603...75,757,451 		JBrowse link
G Thoc5 THO complex 5 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,845,339...4,878,867
Ensembl chr11:4,845,320...4,878,867 		JBrowse link
G Uqcr10 ubiquinol-cytochrome c reductase, complex III subunit X ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,651,968...4,654,344
Ensembl chr11:4,651,973...4,654,342 		JBrowse link
G Vegfa vascular endothelial growth factor A IMP
ISO		 RGD PMID:20406973 PMID:19587327 RGD:8547955, RGD:8547957 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
G Xbp1 X-box binding protein 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,470,641...5,475,993
Ensembl chr11:5,470,659...5,475,893 		JBrowse link
G Zmat5 zinc finger, matrin type 5 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,654,671...4,687,669
Ensembl chr11:4,654,678...4,687,669 		JBrowse link
G Znrf3 zinc and ring finger 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,226,329...5,394,847
Ensembl chr11:5,226,324...5,394,847 		JBrowse link
von Hippel-Lindau disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brk1 BRICK1, SCAR/WAVE actin-nucleating complex subunit ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr 6:113,581,733...113,593,912
Ensembl chr 6:113,581,733...113,593,912 		JBrowse link
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF		 CTD
OMIM
ClinVar		 PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More... NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662 		JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chr17:87,061,292...87,140,838
Ensembl chr17:87,061,128...87,140,838 		JBrowse link
G Irak2 interleukin-1 receptor-associated kinase 2 ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr 6:113,615,428...113,671,987
Ensembl chr 6:113,615,428...113,671,987 		JBrowse link
G Mmp3 matrix metallopeptidase 3 onset ISO RGD PMID:19551141 RGD:7241233 NCBI chr 9:7,445,845...7,455,975
Ensembl chr 9:7,445,822...7,455,975 		JBrowse link
G Sdhb succinate dehydrogenase complex, subunit B, iron sulfur (Ip) ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:9509062 PMID:11404820 PMID:12618761 PMID:16314641 PMID:16317055 More... NCBI chr 4:140,688,582...140,706,509
Ensembl chr 4:140,688,514...140,706,504 		JBrowse link
G Slc18a1 solute carrier family 18 (vesicular monoamine), member 1 ISO mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chr 8:69,490,360...69,547,951
Ensembl chr 8:69,490,363...69,541,887 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO
IAGP		 ClinVar Annotator: match by term: VHL syndrome | ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
OMIM:193300
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:4843792 More... NCBI chr 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594 		JBrowse link
Worster-Drought Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmtc4 transmembrane and tetratricopeptide repeat containing 4 ISO ClinVar Annotator: match by term: Worster-Drought syndrome ClinVar PMID:24375697 NCBI chr14:123,156,383...123,220,697
Ensembl chr14:123,156,383...123,221,447 		JBrowse link
Yunis-Varon syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO
IAGP		 ClinVar Annotator: match by term: Yunis-Varon syndrome
CTD Direct Evidence: marker/mechanism
OMIM:216340		 OMIM
ClinVar
CTD
MouseDO		 PMID:2319578 PMID:7496176 PMID:9536098 PMID:16199547 PMID:17572665 More... NCBI chr10:41,064,168...41,179,237
Ensembl chr10:41,064,168...41,179,256 		JBrowse link
G Vac14 Vac14 homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Yunis-Varon syndrome ClinVar PMID:17956977 PMID:28492532 PMID:28635952 NCBI chr 8:111,345,161...111,447,030
Ensembl chr 8:111,345,217...111,447,030 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16106
    syndrome 10387
      ectodermal dysplasia 546
        ACCES Syndrome 1
        ADULT syndrome 1
        AREDYLD Syndrome 0
        Adams-Oliver syndrome + 92
        Alves Castelo dos Santos Syndrome 0
        Anal Sphincter Dysplasia 0
        Aplasia Cutis Congenita of Limbs Recessive 0
        Aplasia Cutis Congenita with Intestinal Lymphangiectasia 0
        Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts 0
        Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 0
        Arthrogryposis and Ectodermal Dysplasia 1
        BASAN syndrome 1
        Bresheck/Bresek Syndrome 0
        Brunoni Syndrome 0
        CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA 1
        Cerebellar Ataxia and Ectodermal Dysplasia 0
        Charcot Marie Tooth Type 1 Aplasia Cutis Congenita 0
        Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 1
        Clouston syndrome 10
        Congenital Ectodermal Dysplasia with Hearing Loss 0
        Deafness with Anhidrotic Ectodermal Dysplasia 0
        Dermatoosteolysis Kirghizian Type 0
        ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES 1
        ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME 1
        EEC syndrome + 2
        Ectodermal Dysplasia Adrenal Cyst 0
        Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 0
        Ectodermal Dysplasia and Neurosensory Deafness 0
        Ectodermal Dysplasia with Natal Teeth, Turnpenny Type 0
        Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 0
        Ectodermal Dysplasia, Mental Retardation, Syndactyly 0
        Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 0
        Ectodermal Dysplasia, Trichoodontoonychial Type 0
        Ectodermal Dysplasia-Skin Fragility Syndrome 2
        Ectodermal Dysplasia-Syndactyly Syndrome + 1
        Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate 0
        Ellis-Van Creveld syndrome + 51
        Euhidrotic Ectodermal Dysplasia 0
        Focal Facial Dermal Dysplasia + 2
        Freire-Maia Odontotrichomelic Syndrome 0
        Halal Setton Wang Syndrome 0
        Hay Wells Syndrome Recessive Type 0
        Hidrotic Ectodermal Dysplasia, Autosomal Recessive 0
        Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type 0
        Johanson-Blizzard syndrome 1
        Jones Hersh Yusk Syndrome 0
        Ladda Zonana Ramer Syndrome 0
        Lelis Syndrome 0
        Marshall syndrome + 4
        NEMO Mutation with Immunodeficiency 0
        Naegeli-Franceschetti-Jadassohn syndrome 1
        Neurocutaneous Syndromes + 362
        Odontomicronychial Dysplasia 0
        Odontoonychodermal Dysplasia 1
        Odontotrichoungual-Digital-Palmar Syndrome 0
        Ohdo syndrome + 4
        Papillon-Lefevre disease + 3
        Pinheiro Freire-Maia Miranda Syndrome 0
        Rapp-Hodgkin syndrome 1
        Robinson Miller Bensimon Syndrome 0
        Rosselli-Gulienetti Syndrome 0
        Schinzel Giedion syndrome 1
        Schopf-Schulz-Passarge syndrome 1
        Sener Syndrome 0
        Seres-Santamaria Arimany Muniz Syndrome 0
        Taurodontia, Absent Teeth, Sparse Hair 0
        Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 0
        Trichodental Syndrome 0
        Trichoodontoonychial Dysplasia 0
        Trichoscyphodysplasia 0
        Trueb Burg Bottani Syndrome 0
        Yunis-Varon syndrome 2
        ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 1
        cardiofaciocutaneous syndrome + 8
        cartilage-hair hypoplasia 2
        cleft lip-palate-ectodermal dysplasia syndrome 1
        cranioectodermal dysplasia + 9
        dermatopathia pigmentosa reticularis 1
        ectodermal dysplasia 13 2
        ectodermal dysplasia 14 2
        ectodermal dysplasia 8 0
        ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 1
        focal dermal hypoplasia 4
        hypohidrotic ectodermal dysplasia + 26
        junctional epidermolysis bullosa with pyloric atresia 4
        linear skin defects with multiple congenital anomalies 2 1
        nonsyndromic aplasia cutis congenita 1
        oculoectodermal syndrome 3
        orofacial cleft 7 + 1
        pachyonychia congenita + 4
        palmoplantar keratoderma and congenital alopecia 1 1
        palmoplantar keratoderma and congenital alopecia 2 0
        photosensitive trichothiodystrophy 1 3
        pure hair and nail ectodermal dysplasia + 3
        scalp-ear-nipple syndrome 1
Path 2
Term Annotations click to browse term
  disease 16106
    disease of anatomical entity 15662
      nervous system disease 13530
        Neurologic Manifestations 9803
          sensory system disease 6767
            skin disease 3833
              Genetic Skin Diseases 1848
                ectodermal dysplasia 546
                  ACCES Syndrome 1
                  ADULT syndrome 1
                  AREDYLD Syndrome 0
                  Adams-Oliver syndrome + 92
                  Alves Castelo dos Santos Syndrome 0
                  Anal Sphincter Dysplasia 0
                  Aplasia Cutis Congenita of Limbs Recessive 0
                  Aplasia Cutis Congenita with Intestinal Lymphangiectasia 0
                  Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts 0
                  Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 0
                  Arthrogryposis and Ectodermal Dysplasia 1
                  BASAN syndrome 1
                  Bresheck/Bresek Syndrome 0
                  Brunoni Syndrome 0
                  CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA 1
                  Cerebellar Ataxia and Ectodermal Dysplasia 0
                  Charcot Marie Tooth Type 1 Aplasia Cutis Congenita 0
                  Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 1
                  Clouston syndrome 10
                  Congenital Ectodermal Dysplasia with Hearing Loss 0
                  Deafness with Anhidrotic Ectodermal Dysplasia 0
                  Dermatoosteolysis Kirghizian Type 0
                  ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES 1
                  ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME 1
                  EEC syndrome + 2
                  Ectodermal Dysplasia Adrenal Cyst 0
                  Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 0
                  Ectodermal Dysplasia and Neurosensory Deafness 0
                  Ectodermal Dysplasia with Natal Teeth, Turnpenny Type 0
                  Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 0
                  Ectodermal Dysplasia, Mental Retardation, Syndactyly 0
                  Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 0
                  Ectodermal Dysplasia, Trichoodontoonychial Type 0
                  Ectodermal Dysplasia-Skin Fragility Syndrome 2
                  Ectodermal Dysplasia-Syndactyly Syndrome + 1
                  Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate 0
                  Ellis-Van Creveld syndrome + 51
                  Euhidrotic Ectodermal Dysplasia 0
                  Focal Facial Dermal Dysplasia + 2
                  Freire-Maia Odontotrichomelic Syndrome 0
                  Halal Setton Wang Syndrome 0
                  Hay Wells Syndrome Recessive Type 0
                  Hidrotic Ectodermal Dysplasia, Autosomal Recessive 0
                  Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type 0
                  Johanson-Blizzard syndrome 1
                  Jones Hersh Yusk Syndrome 0
                  Ladda Zonana Ramer Syndrome 0
                  Lelis Syndrome 0
                  Marshall syndrome + 4
                  NEMO Mutation with Immunodeficiency 0
                  Naegeli-Franceschetti-Jadassohn syndrome 1
                  Neurocutaneous Syndromes + 362
                  Odontomicronychial Dysplasia 0
                  Odontoonychodermal Dysplasia 1
                  Odontotrichoungual-Digital-Palmar Syndrome 0
                  Ohdo syndrome + 4
                  Papillon-Lefevre disease + 3
                  Pinheiro Freire-Maia Miranda Syndrome 0
                  Rapp-Hodgkin syndrome 1
                  Robinson Miller Bensimon Syndrome 0
                  Rosselli-Gulienetti Syndrome 0
                  Schinzel Giedion syndrome 1
                  Schopf-Schulz-Passarge syndrome 1
                  Sener Syndrome 0
                  Seres-Santamaria Arimany Muniz Syndrome 0
                  Taurodontia, Absent Teeth, Sparse Hair 0
                  Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 0
                  Trichodental Syndrome 0
                  Trichoodontoonychial Dysplasia 0
                  Trichoscyphodysplasia 0
                  Trueb Burg Bottani Syndrome 0
                  Yunis-Varon syndrome 2
                  ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 1
                  cardiofaciocutaneous syndrome + 8
                  cartilage-hair hypoplasia 2
                  cleft lip-palate-ectodermal dysplasia syndrome 1
                  cranioectodermal dysplasia + 9
                  dermatopathia pigmentosa reticularis 1
                  ectodermal dysplasia 13 2
                  ectodermal dysplasia 14 2
                  ectodermal dysplasia 8 0
                  ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 1
                  focal dermal hypoplasia 4
                  hypohidrotic ectodermal dysplasia + 26
                  junctional epidermolysis bullosa with pyloric atresia 4
                  linear skin defects with multiple congenital anomalies 2 1
                  nonsyndromic aplasia cutis congenita 1
                  oculoectodermal syndrome 3
                  orofacial cleft 7 + 1
                  pachyonychia congenita + 4
                  palmoplantar keratoderma and congenital alopecia 1 1
                  palmoplantar keratoderma and congenital alopecia 2 0
                  photosensitive trichothiodystrophy 1 3
                  pure hair and nail ectodermal dysplasia + 3
                  scalp-ear-nipple syndrome 1
paths to the root