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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 NCBI chr 2:189,045,551...189,085,448
Ensembl chr 2:189,062,443...189,083,236
JBrowse link
G Bms1 BMS1 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Aplasia cutis congenita
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:23785305 NCBI chr 4:150,433,567...150,471,783
Ensembl chr 4:150,433,570...150,471,834
JBrowse link
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic ClinVar PMID:28492532 NCBI chr20:28,076,784...28,158,053
Ensembl chr20:28,078,500...28,157,071
JBrowse link
G Eda ectodysplasin-A ISO ClinVar Annotator: match by term: Ectodermal dysplasia ClinVar PMID:19921643 PMID:25741868 NCBI chr  X:69,730,123...70,222,693
Ensembl chr  X:69,730,242...70,220,329
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Dominant
ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic
ClinVar PMID:10431241 PMID:11035039 PMID:11279189 PMID:15013427 PMID:15373768 PMID:16435307 PMID:17125505 PMID:18065779 PMID:18231121 PMID:18561327 PMID:18704500 PMID:18816645 PMID:20236127 PMID:20979233 PMID:21771270 PMID:22032522 PMID:23401279 PMID:23991204 PMID:24033266 PMID:24641098 PMID:24884697 PMID:25741868 PMID:26336973 PMID:27305980 PMID:27657131 PMID:28265457 PMID:28492532 NCBI chr20:28,179,132...28,263,092
Ensembl chr20:28,179,140...28,263,037
JBrowse link
G Edaradd EDAR-associated death domain ISO ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Recessive
ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic
ClinVar PMID:9245989 PMID:11780064 PMID:17354266 PMID:25741868 PMID:28492532 NCBI chr17:90,802,280...90,843,476
Ensembl chr17:90,802,393...90,843,485
JBrowse link
G Gjb6 gap junction protein, beta 6 ISO DNA:missense mutations
ClinVar Annotator: match by term: Hidrotic Ectodermal Dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16547895 PMID:16950989 PMID:25262649 PMID:25741868 PMID:28492532 PMID:28501645, PMID:11017065 RGD:1599828 NCBI chr15:37,400,888...37,411,656
Ensembl chr15:37,400,889...37,410,848
JBrowse link
G Itgb4 integrin subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18348258 NCBI chr10:104,524,000...104,560,180
Ensembl chr10:104,523,996...104,561,078
JBrowse link
G Krt16 keratin 16 susceptibility ISO protein:mutation: ; L130P; pachyonychia congenita, OMIM:167200 RGD PMID:7539673 RGD:1600184 NCBI chr10:88,149,210...88,152,167
Ensembl chr10:88,149,345...88,152,064
JBrowse link
G Krt17 keratin 17 susceptibility ISO protein:mutation: ; N92D; pachyonychia congenita, OMIM:167210 RGD PMID:7539673 RGD:1600184 NCBI chr10:88,158,993...88,163,712
Ensembl chr10:88,118,001...88,163,723
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 8:48,094,233...48,198,499
Ensembl chr 8:48,094,673...48,157,305
JBrowse link
G Pkp1 plakophilin 1 ISO RGD PMID:9326952 RGD:1599084 NCBI chr13:52,705,174...52,753,089
Ensembl chr13:52,705,174...52,752,997
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic ClinVar PMID:28492532 NCBI chr20:28,027,054...28,076,664
NCBI chr20:28,365,538...28,375,676
Ensembl chr20:28,027,054...28,076,664
Ensembl chr20:28,027,054...28,076,664
JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31570889 NCBI chr 8:117,082,440...117,116,244
Ensembl chr 8:117,106,576...117,116,167
JBrowse link
G Tp63 tumor protein p63 ISO DNA:missense mutation:exon:p.K193E (577A>G) (human) RGD PMID:22574117 RGD:11568633 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
JBrowse link
Adams-Oliver syndrome 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: Scalp defect congenital ClinVar PMID:25741868 NCBI chr 2:189,045,551...189,085,448
Ensembl chr 2:189,062,443...189,083,236
JBrowse link
G Arhgap31 Rho GTPase activating protein 31 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr11:64,600,968...64,714,114
Ensembl chr11:64,601,029...64,714,252
JBrowse link
G Bms1 BMS1 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Scalp defect congenital ClinVar PMID:23785305 NCBI chr 4:150,433,567...150,471,783
Ensembl chr 4:150,433,570...150,471,834
JBrowse link
G Dll4 delta like canonical Notch ligand 4 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:26299364 PMID:29924900 NCBI chr 3:111,135,011...111,146,746
Ensembl chr 3:111,135,021...111,145,986
JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adams-Oliver syndrome
CTD
ClinVar
PMID:21820096 PMID:24033266 PMID:25558065 NCBI chr 8:22,822,412...22,874,670
Ensembl chr 8:22,822,412...22,874,645
JBrowse link
G Eogt EGF domain specific O-linked N-acetylglucosamine transferase ISO ClinVar Annotator: match by term: Adams-Oliver syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:23522784 PMID:25558065 NCBI chr 4:129,477,779...129,515,435
Ensembl chr 4:129,477,807...129,515,435
JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Rbpj recombination signal binding protein for immunoglobulin kappa J region ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:59,657,738...59,865,427
Ensembl chr14:59,658,935...59,735,450
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: Adams-Oliver syndrome 1 OMIM
ClinVar
PMID:474617 PMID:16451141 PMID:21565291 PMID:25741868 PMID:28492532 PMID:29924900 NCBI chr11:64,600,968...64,714,114
Ensembl chr11:64,601,029...64,714,252
JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 1 ClinVar PMID:25741868 PMID:26457590 PMID:29924900 NCBI chr 8:22,822,412...22,874,670
Ensembl chr 8:22,822,412...22,874,645
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 OMIM:614219
OMIM
ClinVar
PMID:8849019 PMID:17159513 PMID:21820096 PMID:23522784 PMID:25558065 PMID:25741868 PMID:25824905 PMID:26457590 PMID:28492532 PMID:28884918 PMID:29924900 PMID:30111349 NCBI chr 8:22,822,412...22,874,670
Ensembl chr 8:22,822,412...22,874,645
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
ClinVar Annotator: match by OMIM:614814
OMIM
ClinVar
PMID:22883147 PMID:25741868 PMID:29924900 NCBI chr14:59,657,738...59,865,427
Ensembl chr14:59,658,935...59,735,450
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
ClinVar Annotator: match by OMIM:615297
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:23522784 PMID:23860037 PMID:25558065 PMID:25741868 PMID:28492532 PMID:29924900 PMID:31368252 NCBI chr 4:129,477,779...129,515,435
Ensembl chr 4:129,477,807...129,515,435
JBrowse link
Adams-Oliver Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camsap1 calmodulin regulated spectrin-associated protein 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493 PMID:28492532 NCBI chr 3:3,373,971...3,434,027
Ensembl chr 3:3,373,971...3,434,027
JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493 PMID:28492532 NCBI chr 3:3,798,346...3,806,841
Ensembl chr 3:3,798,347...3,806,713
JBrowse link
G Dnlz DNL-type zinc finger ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493 PMID:28492532 NCBI chr 3:3,796,480...3,798,467
Ensembl chr 3:3,796,480...3,798,239
JBrowse link
G Entr1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493 PMID:28492532 NCBI chr 3:3,827,498...3,834,219
Ensembl chr 3:3,827,498...3,834,210
JBrowse link
G Gpsm1 G-protein signaling modulator 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493 PMID:28492532 NCBI chr 3:3,767,394...3,794,360
Ensembl chr 3:3,767,394...3,794,359
JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493 PMID:28492532 NCBI chr 3:3,843,307...3,856,154
Ensembl chr 3:3,843,307...3,855,981
JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493 PMID:28492532 NCBI chr 3:3,310,641...3,366,558
Ensembl chr 3:3,310,954...3,365,340
JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493 PMID:28492532 NCBI chr 3:3,653,861...3,662,509
Ensembl chr 3:3,654,755...3,661,810
JBrowse link
G Nacc2 NACC family member 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493 PMID:28492532 NCBI chr 3:3,508,084...3,574,787
Ensembl chr 3:3,510,041...3,574,787
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5
ClinVar Annotator: match by OMIM:616028
OMIM
ClinVar
PMID:1621771 PMID:9536098 PMID:15959515 PMID:16729972 PMID:17576681 PMID:17662764 PMID:18593716 PMID:19597493 PMID:20007775 PMID:20951801 PMID:21457232 PMID:22307742 PMID:23102684 PMID:23578328 PMID:24033266 PMID:24113472 PMID:24728327 PMID:25132448 PMID:25260786 PMID:25500235 PMID:25587027 PMID:25741868 PMID:25907466 PMID:25931334 PMID:25963545 PMID:26188975 PMID:26699486 PMID:26708639 PMID:26820064 PMID:27760138 PMID:27989580 PMID:28166811 PMID:28387797 PMID:28492532 PMID:28991257 PMID:29907982 PMID:29924900 PMID:30059548 PMID:30115950 PMID:30511478 PMID:30609409 PMID:31866570 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493 PMID:28492532 NCBI chr 3:3,834,262...3,842,061
Ensembl chr 3:3,834,078...3,842,078
JBrowse link
G Qsox2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493 PMID:28492532 NCBI chr 3:3,662,324...3,691,972
Ensembl chr 3:3,662,324...3,691,972
JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493 PMID:28492532 NCBI chr 3:3,856,218...3,890,785
Ensembl chr 3:3,856,218...3,890,758
JBrowse link
G Snapc4 small nuclear RNA activating complex, polypeptide 4 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493 PMID:28492532 NCBI chr 3:3,808,596...3,827,425
Ensembl chr 3:3,809,407...3,824,284
JBrowse link
G Tmem250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493 PMID:28492532 NCBI chr 3:3,590,783...3,594,475
Ensembl chr 3:3,590,783...3,594,475
JBrowse link
G Ubac1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493 PMID:28492532 NCBI chr 3:3,453,396...3,476,242
Ensembl chr 3:3,453,401...3,476,215
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: Adams-Oliver syndrome 6
ClinVar
OMIM
PMID:25741868 PMID:26299364 PMID:29924900 PMID:32860008 NCBI chr 3:111,135,011...111,146,746
Ensembl chr 3:111,135,021...111,145,986
JBrowse link
ADULT syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome
ClinVar Annotator: match by term: ADULT syndrome
ClinVar Annotator: match by OMIM:103285
OMIM
ClinVar
PMID:8456838 PMID:8737655 PMID:9443880 PMID:11462173 PMID:11528512 PMID:11929852 PMID:12037717 PMID:12446779 PMID:15539951 PMID:16114047 PMID:16724007 PMID:16740912 PMID:17041931 PMID:17431922 PMID:17609671 PMID:18603493 PMID:18626511 PMID:19239083 PMID:19530185 PMID:19781362 PMID:20543567 PMID:21204238 PMID:21652629 PMID:25741868 PMID:27469932 PMID:28492532 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
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 Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: AEC syndrome
ClinVar Annotator: match by term: Hay-Wells syndrome of ectodermal dysplasia
ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate
DNA:missense mutations:exon:multiple
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9774969 PMID:10886756 PMID:11159940 PMID:15200513 PMID:19239083 PMID:19353588 PMID:19676059 PMID:19793345 PMID:21615690 PMID:28492532, PMID:11159940 RGD:11568643 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
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: Short-rib thoracic dysplasia 1 with or without polydactyly ClinVar PMID:26077881 NCBI chr 6:7,935,771...7,961,207
Ensembl chr 6:7,935,771...7,961,207
JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:28492532 PMID:29068549 NCBI chr 8:5,217,054...5,436,969
Ensembl chr 8:5,217,217...5,429,581
JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly ClinVar PMID:26077881 NCBI chr 6:7,900,962...7,933,795
Ensembl chr 6:7,900,972...7,933,796
JBrowse link
G Ift140 intraflagellar transport 140 ISS OMIM:208500 MouseDO NCBI chr10:14,373,668...14,461,509
Ensembl chr10:14,373,679...14,461,160
JBrowse link
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:25741868 PMID:29068549 NCBI chr13:100,431,390...100,450,209 JBrowse link
G Nek1 NIMA-related kinase 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly ClinVar PMID:25741868 NCBI chr16:32,321,010...32,439,421
Ensembl chr16:32,321,010...32,439,421
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome
CTD
ClinVar
PMID:21258341 PMID:25741868 PMID:28492532 NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060
JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:23559409 PMID:23683095 PMID:25741868 PMID:28492532 PMID:28973083 PMID:29068549 NCBI chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120
JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:22486404 PMID:24033266 PMID:25914204 PMID:28332779 PMID:28492532 PMID:29068549 NCBI chr 6:34,094,291...34,152,048
Ensembl chr 6:34,094,306...34,151,622
JBrowse link
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 ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2
ClinVar Annotator: match by OMIM:611263
OMIM
ClinVar
PMID:17468754 PMID:19610081 PMID:19648123 PMID:25741868 PMID:28492532 PMID:30767363 NCBI chr 2:165,506,878...165,600,748
Ensembl chr 2:165,505,810...165,600,748
JBrowse link
ataxia telangiectasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat1 acetyl-CoA acetyltransferase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:28492532 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Atm ATM serine/threonine kinase ISO
IMP
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
DNA:deletion:exon:
ClinVar Annotator: match by OMIM:208900
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1632451 PMID:1953577 PMID:2491181 PMID:2557216 PMID:3338800 PMID:6504056 PMID:7792600 PMID:8659541 PMID:8665503 PMID:8698354 PMID:8755918 PMID:8789452 PMID:8797579 PMID:8808599 PMID:8845835 PMID:8923007 PMID:8958160 PMID:8968760 PMID:9000145 PMID:9043869 PMID:9054948 PMID:9121450 PMID:9150358 PMID:9244351 PMID:9259193 PMID:9288106 PMID:9334731 PMID:9443866 PMID:9450874 PMID:9450906 PMID:9463314 PMID:9488043 PMID:9497252 PMID:9536098 PMID:9600235 PMID:9622061 PMID:9682216 PMID:9711876 PMID:9733514 PMID:9764584 PMID:9792409 PMID:9792410 PMID:9872980 PMID:9887333 PMID:9892178 PMID:10023947 PMID:10234507 PMID:10330348 PMID:10397742 PMID:10416970 PMID:10425038 PMID:10464642 PMID:10534763 PMID:10677309 PMID:10706620 PMID:10738255 PMID:10767628 PMID:10817650 PMID:10864201 PMID:10873394 PMID:10980530 PMID:11054065 PMID:11173867 PMID:11298136 PMID:11382771 PMID:11443540 PMID:11468183 PMID:11505391 PMID:11507241 PMID:11507245 PMID:11516106 PMID:11526498 PMID:11606401 PMID:11746755 PMID:11756177 PMID:11756185 PMID:11805335 PMID:11821961 PMID:11826028 PMID:11830610 PMID:11839094 PMID:11849780 PMID:11857346 PMID:11889466 PMID:11897820 PMID:11897822 PMID:11996792 PMID:12072877 PMID:12091354 PMID:12149228 PMID:12195425 PMID:12362033 PMID:12473176 PMID:12473594 PMID:12497634 PMID:12511424 PMID:12552559 PMID:12552566 PMID:12637545 PMID:12646636 PMID:12655570 PMID:12673794 PMID:12673797 PMID:12673804 PMID:12697903 PMID:12745884 PMID:12810666 PMID:12815592 PMID:12882767 PMID:12883528 PMID:12917204 PMID:12935922 PMID:12935933 PMID:12969974 PMID:14562025 PMID:14586414 PMID:14627829 PMID:14634505 PMID:14643952 PMID:14654357 PMID:14695186 PMID:14695534 PMID:14695997 PMID:14735203 PMID:14754616 PMID:14970866 PMID:15039971 PMID:15042666 PMID:15054841 PMID:15101044 PMID:15159313 PMID:15164409 PMID:15174027 PMID:15177039 PMID:15196260 PMID:15217508 PMID:15279808 PMID:15280931 PMID:15390180 PMID:15450731 PMID:15498871 PMID:15629612 PMID:15643608 PMID:15696190 PMID:15713674 PMID:15756685 PMID:15824023 PMID:15824150 PMID:15843990 PMID:15880680 PMID:15880721 PMID:15928302 PMID:16014569 PMID:16035317 PMID:16112413 PMID:16140923 PMID:16167060 PMID:16189143 PMID:16199547 PMID:16238588 PMID:16266405 PMID:16380133 PMID:16387360 PMID:16411093 PMID:16461462 PMID:16574953 PMID:16603769 PMID:16631465 PMID:16652348 PMID:16741161 PMID:16832357 PMID:16864838 PMID:16914028 PMID:16941484 PMID:16953663 PMID:16958054 PMID:16998505 PMID:17001622 PMID:17001642 PMID:17023046 PMID:17124347 PMID:17132159 PMID:17166884 PMID:17187232 PMID:17203191 PMID:17298726 PMID:17333338 PMID:17341484 PMID:17344846 PMID:17351744 PMID:17376192 PMID:17393301 PMID:17490827 PMID:17517479 PMID:17535973 PMID:17540590 PMID:17576681 PMID:17623063 PMID:17640065 PMID:17699107 PMID:17876757 PMID:17910737 PMID:17968022 PMID:17985259 PMID:18066086 PMID:18164969 PMID:18174244 PMID:18261794 PMID:18321536 PMID:18384426 PMID:18414213 PMID:18431795 PMID:18433505 PMID:18497957 PMID:18502988 PMID:18504682 PMID:18560558 PMID:18565893 PMID:18573109 PMID:18575927 PMID:18634022 PMID:18701470 PMID:18807267 PMID:18813293 PMID:18846412 PMID:19018867 PMID:19147735 PMID:19347964 PMID:19404735 PMID:19431188 PMID:19440741 PMID:19535770 PMID:19605768 PMID:19638463 PMID:19683821 PMID:19691550 PMID:19705055 PMID:19763152 PMID:19770270 PMID:19773425 PMID:19781682 PMID:19823873 PMID:19931588 PMID:20051774 PMID:20077034 PMID:20124459 PMID:20153123 PMID:20232390 PMID:20301790 PMID:20305132 PMID:20307669 PMID:20308662 PMID:20346647 PMID:20480175 PMID:20544271 PMID:20678261 PMID:20717907 PMID:20826828 PMID:20840352 PMID:20927582 PMID:20945614 PMID:20966255 PMID:20981092 PMID:21150274 PMID:21164480 PMID:21346221 PMID:21354641 PMID:21445571 PMID:21447618 PMID:21459046 PMID:21514219 PMID:21520333 PMID:21593342 PMID:21665257 PMID:21681852 PMID:21778326 PMID:21787400 PMID:21792198 PMID:21833744 PMID:21910157 PMID:21933854 PMID:21965147 PMID:21993670 PMID:22006793 PMID:22017321 PMID:22071889 PMID:22130802 PMID:22146522 PMID:22200977 PMID:22213089 PMID:22250480 PMID:22345219 PMID:22369572 PMID:22406018 PMID:22420423 PMID:22438227 PMID:22527104 PMID:22529920 PMID:22585167 PMID:22585170 PMID:22649200 PMID:22674506 PMID:22763152 PMID:22869595 PMID:22895193 PMID:22927201 PMID:22927308 PMID:22952040 PMID:22995991 PMID:23074045 PMID:23075580 PMID:23091097 PMID:23142947 PMID:23143971 PMID:23264026 PMID:23322442 PMID:23360865 PMID:23369113 PMID:23376243 PMID:23454770 PMID:23509889 PMID:23532176 PMID:23555315 PMID:23561644 PMID:23566627 PMID:23585368 PMID:23585524 PMID:23612382 PMID:23632773 PMID:23640770 PMID:23652012 PMID:23667852 PMID:23671275 PMID:23726790 PMID:23761041 PMID:23774824 PMID:23807571 PMID:23836671 PMID:23946315 PMID:23960188 PMID:24033266 PMID:24088041 PMID:24090759 PMID:24113346 PMID:24120321 PMID:24142997 PMID:24172824 PMID:24197801 PMID:24201163 PMID:24204193 PMID:24325359 PMID:24326041 PMID:24356096 PMID:24368146 PMID:24405665 PMID:24416720 PMID:24422204 PMID:24448499 PMID:24451234 PMID:24506781 PMID:24512911 PMID:24549055 PMID:24556621 PMID:24568663 PMID:24628946 PMID:24643969 PMID:24682267 PMID:24695838 PMID:24728327 PMID:24733792 PMID:24763289 PMID:24789685 PMID:24831771 PMID:24853695 PMID:24886963 PMID:24935205 PMID:24951259 PMID:24970356 PMID:24983367 PMID:25032865 PMID:25037873 PMID:25040471 PMID:25042771 PMID:25058500 PMID:25077176 PMID:25101980 PMID:25117502 PMID:25122203 PMID:25133958 PMID:25148578 PMID:25151137 PMID:25159481 PMID:25182519 PMID:25186627 PMID:25231023 PMID:25232094 PMID:25257301 PMID:25275298 PMID:25303977 PMID:25318351 PMID:25320358 PMID:25326635 PMID:25326637 PMID:25330149 PMID:25356970 PMID:25374739 PMID:25428789 PMID:25452441 PMID:25460276 PMID:25479140 PMID:25480502 PMID:25502423 PMID:25503501 PMID:25523272 PMID:25525159 PMID:25572163 PMID:25587027 PMID:25589003 PMID:25614872 PMID:25625042 PMID:25640679 PMID:25741868 PMID:25749350 PMID:25793145 PMID:25862857 PMID:25877891 PMID:25882375 PMID:25914063 PMID:25925381 PMID:25925954 PMID:25938944 PMID:25957637 PMID:25980754 PMID:26009992 PMID:26010451 PMID:26022348 PMID:26023681 PMID:26053404 PMID:26085511 PMID:26094658 PMID:26098866 PMID:26112015 PMID:26123645 PMID:26155992 PMID:26164066 PMID:26182300 PMID:26193622 PMID:26206375 PMID:26207792 PMID:26214590 PMID:26220245 PMID:26246601 PMID:26247737 PMID:26250988 PMID:26270727 PMID:26296696 PMID:26296701 PMID:26320869 PMID:26344566 PMID:26380989 PMID:26439923 PMID:26467025 PMID:26483394 PMID:26506520 PMID:26517685 PMID:26530882 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26628246 PMID:26633542 PMID:26633545 PMID:26635394 PMID:26662178 PMID:26667234 PMID:26677768 PMID:26681312 PMID:26689913 PMID:26692440 PMID:26693373 PMID:26757417 PMID:26771497 PMID:26778106 PMID:26786923 PMID:26787654 PMID:26822949 PMID:26824983 PMID:26837699 PMID:26845104 PMID:26846839 PMID:26878173 PMID:26896183 PMID:26898890 PMID:26901136 PMID:26911350 PMID:26915675 PMID:26917275 PMID:26976419 PMID:27016235 PMID:27034805 PMID:27039262 PMID:27064202 PMID:27067391 PMID:27083775 PMID:27093186 PMID:27121310 PMID:27146902 PMID:27149842 PMID:27150160 PMID:27153395 PMID:27159176 PMID:27276934 PMID:27304073 PMID:27413114 PMID:27433846 PMID:27443514 PMID:27449771 PMID:27460089 PMID:27479817 PMID:27484032 PMID:27498913 PMID:27528516 PMID:27535334 PMID:27553368 PMID:27581129 PMID:27595995 PMID:27599564 PMID:27602502 PMID:27616075 PMID:27621404 PMID:27664052 PMID:27671921 PMID:27720647 PMID:27732944 PMID:27756406 PMID:27779110 PMID:27782108 PMID:27798748 PMID:27803004 PMID:27844328 PMID:27871447 PMID:27873105 PMID:27878467 PMID:27884168 PMID:27913932 PMID:27932211 PMID:27959900 PMID:27978560 PMID:27980538 PMID:27988859 PMID:27989354 PMID:27997549 PMID:28007021 PMID:28008555 PMID:28051113 PMID:28054583 PMID:28076423 PMID:28093192 PMID:28093616 PMID:28119368 PMID:28123174 PMID:28125075 PMID:28126470 PMID:28135048 PMID:28135145 PMID:28152038 PMID:28170084 PMID:28182994 PMID:28188106 PMID:28195393 PMID:28196074 PMID:28202063 PMID:28211887 PMID:28259476 PMID:28281021 PMID:28282032 PMID:28338653 PMID:28423360 PMID:28423363 PMID:28440963 PMID:28451460 PMID:28486781 PMID:28492530 PMID:28492532 PMID:28497333 PMID:28503720 PMID:28528518 PMID:28569218 PMID:28580595 PMID:28591191 PMID:28608266 PMID:28640387 PMID:28652578 PMID:28657667 PMID:28687356 PMID:28687971 PMID:28716242 PMID:28717660 PMID:28724667 PMID:28726808 PMID:28767289 PMID:28779002 PMID:28825054 PMID:28828701 PMID:28830922 PMID:28843361 PMID:28849312 PMID:28873162 PMID:28875981 PMID:28878254 PMID:28894253 PMID:28956312 PMID:28975018 PMID:28975465 PMID:29036293 PMID:29058119 PMID:29059438 PMID:29101607 PMID:29127364 PMID:29141312 PMID:29263802 PMID:29271107 PMID:29335925 PMID:29356034 PMID:29360161 PMID:29368341 PMID:29371908 PMID:29415044 PMID:29423082 PMID:29449433 PMID:29458332 PMID:29470806 PMID:29478780 PMID:29482223 PMID:29486991 PMID:29487225 PMID:29506079 PMID:29506128 PMID:29522266 PMID:29555025 PMID:29555771 PMID:29566657 PMID:29596542 PMID:29600275 PMID:29641532 PMID:29642553 PMID:29659569 PMID:29659587 PMID:29664460 PMID:29665859 PMID:29667044 PMID:29678143 PMID:29684080 PMID:29719442 PMID:29752822 PMID:29753700 PMID:29778231 PMID:29785153 PMID:29789584 PMID:29866652 PMID:29888287 PMID:29909963 PMID:29915322 PMID:29922827 PMID:29945567 PMID:29946849 PMID:29954938 PMID:29958926 PMID:30067863 PMID:30086788 PMID:30093976 PMID:30124550 PMID:30128536 PMID:30181556 PMID:30197789 PMID:30214756 PMID:30233647 PMID:30253992 PMID:30256826 PMID:30262796 PMID:30283815 PMID:30287823 PMID:30303537 PMID:30306255 PMID:30309722 PMID:30322717 PMID:30363071 PMID:30374176 PMID:30389154 PMID:30402232 PMID:30426508 PMID:30447919 PMID:30482293 PMID:30504431 PMID:30537493 PMID:30541756 PMID:30549301 PMID:30553997 PMID:30579816 PMID:30584090 PMID:30607632 PMID:30613976 PMID:30620386 PMID:30651582 PMID:30666157 PMID:30713859 PMID:30713931 PMID:30723761 PMID:30730459 PMID:30814645 PMID:30819809 PMID:30851086 PMID:30883245 PMID:30927251 PMID:30938815 PMID:30963573 PMID:30982232 PMID:30995915 PMID:31050087 PMID:31054420 PMID:31101757 PMID:31118792 PMID:31125277 PMID:31139954 PMID:31159747 PMID:31160347 PMID:31173964 PMID:31206626 PMID:31216378 PMID:31227566 PMID:31248605 PMID:31263571 PMID:31273614 PMID:31325073 PMID:31341520 PMID:31360874 PMID:31407689 PMID:31415627 PMID:31422574 PMID:31428572 PMID:31617914 PMID:31658756 PMID:31666926 PMID:31719806 PMID:31731261 PMID:31742824 PMID:31780696 PMID:31784482 PMID:31811167 PMID:31815095 PMID:31843900 PMID:31867841 PMID:31871109 PMID:31882575 PMID:31919090 PMID:31920950 PMID:31921190 PMID:31942411 PMID:31948886 PMID:32039725 PMID:32068069 PMID:32125938 PMID:32172615 PMID:32183364 PMID:32295079 PMID:32325837 PMID:32488064 PMID:32566746 PMID:32601921 PMID:32658311 PMID:32832836 PMID:32854451 PMID:32860008 PMID:32866190 PMID:32906206 PMID:32986223 PMID:33128190 PMID:33280026 PMID:33309985 PMID:197781682, PMID:28007901, PMID:19626507 RGD:12879399, RGD:10053611 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo IMP RGD PMID:28007901 RGD:12879399
G Bak1 BCL2-antagonist/killer 1 ISO DNA:mutation:exon:c.342C>T(human) RGD PMID:19898928 RGD:14394817 NCBI chr20:5,609,620...5,618,899
Ensembl chr20:5,609,625...5,618,260
JBrowse link
G Bax BCL2 associated X, apoptosis regulator susceptibility ISO DNA:mutations:introns:IVS1146C>T, IVS3+14A>G(human) RGD PMID:19898928 RGD:14394817 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bik BCL2-interacting killer susceptibility ISO DNA:deletion:intron:IVS4-12delTC(human) RGD PMID:19898928 RGD:14394817 NCBI chr 7:124,390,924...124,410,449
Ensembl chr 7:124,391,432...124,410,447
JBrowse link
G Hdac4 histone deacetylase 4 treatment ISO protein:altered localization:nucleus: RGD PMID:22466704, PMID:22466704, PMID:22466704 RGD:9681455, RGD:9681455, RGD:9681455 NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
JBrowse link
G Ifng interferon gamma ISO RGD PMID:6432389 RGD:8693328 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:6432389 RGD:8693328 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il6 interleukin 6 severity ISO RGD PMID:26851119 RGD:11529801 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Npat nuclear protein, co-activator of histone transcription ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:28492532 NCBI chr 8:58,120,179...58,158,052
Ensembl chr 8:58,120,179...58,158,052
JBrowse link
G RGD1311251 similar to RIKEN cDNA 4930550C14 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: AT, COMPLEMENTATION GROUP C
ClinVar PMID:2557216 PMID:3338800 PMID:6504056 PMID:7792600 PMID:8659541 PMID:8665503 PMID:8698354 PMID:8755918 PMID:8797579 PMID:8808599 PMID:8845835 PMID:8923007 PMID:9000145 PMID:9043869 PMID:9054948 PMID:9150358 PMID:9244351 PMID:9259193 PMID:9288106 PMID:9334731 PMID:9443866 PMID:9450874 PMID:9463314 PMID:9488043 PMID:9497252 PMID:9536098 PMID:9622061 PMID:9682216 PMID:9711876 PMID:9733514 PMID:9764584 PMID:9792409 PMID:9792410 PMID:9872980 PMID:9887333 PMID:10023947 PMID:10234507 PMID:10330348 PMID:10397742 PMID:10416970 PMID:10425038 PMID:10464642 PMID:10534763 PMID:10706620 PMID:10738255 PMID:10817650 PMID:10864201 PMID:10873394 PMID:10980530 PMID:11054065 PMID:11298136 PMID:11382771 PMID:11443540 PMID:11468183 PMID:11505391 PMID:11606401 PMID:11746755 PMID:11756177 PMID:11756185 PMID:11805335 PMID:11826028 PMID:11830610 PMID:11849780 PMID:11857346 PMID:11897822 PMID:12091354 PMID:12149228 PMID:12195425 PMID:12473594 PMID:12497634 PMID:12511424 PMID:12552559 PMID:12552566 PMID:12646636 PMID:12655570 PMID:12673797 PMID:12673804 PMID:12697903 PMID:12745884 PMID:12810666 PMID:12815592 PMID:12882767 PMID:12883528 PMID:12917204 PMID:12935922 PMID:12969974 PMID:14586414 PMID:14627829 PMID:14654357 PMID:14754616 PMID:14970866 PMID:15039971 PMID:15101044 PMID:15159313 PMID:15174027 PMID:15279808 PMID:15390180 PMID:15696190 PMID:15756685 PMID:15843990 PMID:15880721 PMID:15928302 PMID:16014569 PMID:16140923 PMID:16189143 PMID:16199547 PMID:16238588 PMID:16266405 PMID:16380133 PMID:16387360 PMID:16411093 PMID:16461462 PMID:16603769 PMID:16631465 PMID:16652348 PMID:16832357 PMID:16864838 PMID:16914028 PMID:16941484 PMID:16953663 PMID:16958054 PMID:17001622 PMID:17124347 PMID:17132159 PMID:17166884 PMID:17298726 PMID:17333338 PMID:17344846 PMID:17376192 PMID:17393301 PMID:17517479 PMID:17540590 PMID:17576681 PMID:17623063 PMID:17640065 PMID:17910737 PMID:17968022 PMID:18066086 PMID:18321536 PMID:18384426 PMID:18414213 PMID:18431795 PMID:18497957 PMID:18504682 PMID:18560558 PMID:18573109 PMID:18575927 PMID:18634022 PMID:18807267 PMID:18813293 PMID:19018867 PMID:19347964 PMID:19404735 PMID:19431188 PMID:19440741 PMID:19535770 PMID:19605768 PMID:19691550 PMID:19763152 PMID:19781682 PMID:19823873 PMID:19931588 PMID:20077034 PMID:20153123 PMID:20232390 PMID:20301790 PMID:20305132 PMID:20307669 PMID:20346647 PMID:20480175 PMID:20840352 PMID:20945614 PMID:20966255 PMID:21150274 PMID:21346221 PMID:21354641 PMID:21445571 PMID:21459046 PMID:21665257 PMID:21778326 PMID:21787400 PMID:21792198 PMID:21833744 PMID:21933854 PMID:21965147 PMID:21993670 PMID:22006793 PMID:22017321 PMID:22071889 PMID:22146522 PMID:22213089 PMID:22250480 PMID:22345219 PMID:22369572 PMID:22406018 PMID:22420423 PMID:22529920 PMID:22585167 PMID:22585170 PMID:22649200 PMID:22674506 PMID:22869595 PMID:22895193 PMID:22952040 PMID:22995991 PMID:23091097 PMID:23142947 PMID:23143971 PMID:23264026 PMID:23322442 PMID:23454770 PMID:23532176 PMID:23555315 PMID:23585368 PMID:23585524 PMID:23632773 PMID:23640770 PMID:23667852 PMID:23671275 PMID:23761041 PMID:23774824 PMID:23807571 PMID:23836671 PMID:23946315 PMID:24033266 PMID:24088041 PMID:24090759 PMID:24172824 PMID:24326041 PMID:24416720 PMID:24448499 PMID:24451234 PMID:24556621 PMID:24628946 PMID:24643969 PMID:24728327 PMID:24733792 PMID:24763289 PMID:24789685 PMID:24853695 PMID:24951259 PMID:24970356 PMID:24983367 PMID:25032865 PMID:25037873 PMID:25040471 PMID:25042771 PMID:25058500 PMID:25077176 PMID:25117502 PMID:25122203 PMID:25133958 PMID:25148578 PMID:25151137 PMID:25182519 PMID:25186627 PMID:25232094 PMID:25318351 PMID:25320358 PMID:25326635 PMID:25326637 PMID:25330149 PMID:25374739 PMID:25428789 PMID:25452441 PMID:25460276 PMID:25479140 PMID:25480502 PMID:25502423 PMID:25503501 PMID:25523272 PMID:25525159 PMID:25572163 PMID:25587027 PMID:25589003 PMID:25614872 PMID:25625042 PMID:25741868 PMID:25793145 PMID:25877891 PMID:25914063 PMID:25925381 PMID:25925954 PMID:25938944 PMID:25957637 PMID:25980754 PMID:26009992 PMID:26010451 PMID:26022348 PMID:26053404 PMID:26094658 PMID:26182300 PMID:26193622 PMID:26206375 PMID:26220245 PMID:26246601 PMID:26247737 PMID:26270727 PMID:26296696 PMID:26296701 PMID:26344566 PMID:26380989 PMID:26439923 PMID:26467025 PMID:26483394 PMID:26506520 PMID:26530882 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26628246 PMID:26633542 PMID:26633545 PMID:26662178 PMID:26677768 PMID:26681312 PMID:26689913 PMID:26692440 PMID:26693373 PMID:26786923 PMID:26787654 PMID:26822949 PMID:26824983 PMID:26837699 PMID:26845104 PMID:26896183 PMID:26898890 PMID:26901136 PMID:26915675 PMID:26917275 PMID:26976419 PMID:27083775 PMID:27121310 PMID:27153395 PMID:27159176 PMID:27304073 PMID:27433846 PMID:27443514 PMID:27449771 PMID:27479817 PMID:27498913 PMID:27528516 PMID:27581129 PMID:27595995 PMID:27602502 PMID:27616075 PMID:27621404 PMID:27664052 PMID:27720647 PMID:27732944 PMID:27798748 PMID:27873105 PMID:27878467 PMID:27913932 PMID:27932211 PMID:27959900 PMID:27978560 PMID:27988859 PMID:27989354 PMID:28007021 PMID:28008555 PMID:28051113 PMID:28093192 PMID:28093616 PMID:28125075 PMID:28126470 PMID:28135145 PMID:28152038 PMID:28170084 PMID:28188106 PMID:28195393 PMID:28338653 PMID:28423363 PMID:28486781 PMID:28492532 PMID:28503720 PMID:28580595 PMID:28591191 PMID:28608266 PMID:28652578 PMID:28687356 PMID:28716242 PMID:28717660 PMID:28724667 PMID:28726808 PMID:28767289 PMID:28779002 PMID:28825054 PMID:28828701 PMID:28843361 PMID:28873162 PMID:28875981 PMID:28975465 PMID:29036293 PMID:29058119 PMID:29141312 PMID:29263802 PMID:29335925 PMID:29356034 PMID:29360161 PMID:29368341 PMID:29371908 PMID:29415044 PMID:29470806 PMID:29478780 PMID:29522266 PMID:29555025 PMID:29555771 PMID:29566657 PMID:29596542 PMID:29600275 PMID:29664460 PMID:29667044 PMID:29678143 PMID:29684080 PMID:29719442 PMID:29752822 PMID:29753700 PMID:29785153 PMID:29888287 PMID:29909963 PMID:29922827 PMID:29945567 PMID:29946849 PMID:29954938 PMID:29958926 PMID:30067863 PMID:30086788 PMID:30093976 PMID:30128536 PMID:30197789 PMID:30214756 PMID:30253992 PMID:30256826 PMID:30287823 PMID:30303537 PMID:30322717 PMID:30363071 PMID:30374176 PMID:30426508 PMID:30447919 PMID:30504431 PMID:30549301 PMID:30579816 PMID:30607632 PMID:30620386 PMID:30651582 PMID:30723761 PMID:30730459 PMID:30814645 PMID:30819809 PMID:30851086 PMID:30883245 PMID:30927251 PMID:30982232 PMID:31050087 PMID:31054420 PMID:31101757 PMID:31118792 PMID:31125277 PMID:31139954 PMID:31159747 PMID:31160347 PMID:31206626 PMID:31216378 PMID:31248605 PMID:31273614 PMID:31325073 PMID:31341520 PMID:31407689 PMID:31617914 PMID:31731261 PMID:31780696 PMID:31843900 PMID:31871109 PMID:31919090 PMID:31920950 PMID:31921190 PMID:31948886 PMID:32039725 PMID:32068069 PMID:32125938 PMID:32183364 PMID:32295079 PMID:32566746 PMID:32601921 PMID:32658311 PMID:32832836 PMID:32860008 PMID:32906206 PMID:32986223 PMID:33280026 NCBI chr 8:57,983,168...58,012,474
Ensembl chr 8:57,983,556...58,011,962
JBrowse link
Ataxia Telangiectasia Like Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mre11 MRE11 homolog, double strand break repair nuclease ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder
CTD
ClinVar
PMID:8445618 PMID:8684395 PMID:9536098 PMID:9845372 PMID:10612394 PMID:11196167 PMID:11238951 PMID:11371508 PMID:12966088 PMID:14684699 PMID:14690604 PMID:15269180 PMID:16858402 PMID:17576681 PMID:19383352 PMID:20052722 PMID:20805886 PMID:21227757 PMID:22006311 PMID:22078559 PMID:22139912 PMID:22705791 PMID:22863007 PMID:23028188 PMID:23080121 PMID:23436002 PMID:23718828 PMID:23755103 PMID:23912341 PMID:24030952 PMID:24033266 PMID:24093751 PMID:24549055 PMID:24556621 PMID:24763289 PMID:24894818 PMID:25040471 PMID:25326635 PMID:25452441 PMID:25503501 PMID:25741868 PMID:26057807 PMID:26467025 PMID:26483394 PMID:26534844 PMID:26633542 PMID:26680607 PMID:26757417 PMID:26786923 PMID:26787654 PMID:26845104 PMID:26878173 PMID:26898890 PMID:27153395 PMID:27329137 PMID:27433846 PMID:27621404 PMID:27783279 PMID:27878467 PMID:28051113 PMID:28125075 PMID:28152038 PMID:28202063 PMID:28486781 PMID:28492532 PMID:28524162 PMID:28559769 PMID:28699156 PMID:28849312 PMID:28873162 PMID:29170652 PMID:29348823 PMID:29371908 PMID:29752822 PMID:29922827 PMID:30093976 PMID:30441849 PMID:31159747 PMID:31273614 PMID:32566746 NCBI chr 8:13,304,355...13,350,329
Ensembl chr 8:13,305,152...13,352,489
JBrowse link
G Pcna proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:124,880,698...124,884,570
Ensembl chr 3:124,880,698...124,884,570
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 ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 3
ClinVar Annotator: match by OMIM:615217
OMIM
ClinVar
PMID:22065524 PMID:25741868 PMID:28492532 NCBI chr10:55,013,686...55,078,986
Ensembl chr10:55,013,703...55,080,421
JBrowse link
Ataxia-Oculomotor Apraxia 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 4 OMIM
ClinVar
PMID:10446192 PMID:18414213 PMID:20118933 PMID:22508754 PMID:23224214 PMID:25558065 PMID:25728773 PMID:25741868 PMID:26467025 PMID:27066567 PMID:28492532 PMID:29261713 PMID:29720203 PMID:30039206 PMID:31061747 NCBI chr 1:100,853,475...100,859,202
Ensembl chr 1:100,853,902...100,859,084
JBrowse link
Ataxia-Telangiectasia Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia variant ClinVar PMID:8755918 PMID:8808599 PMID:9000145 PMID:9288106 PMID:9463314 PMID:9792410 PMID:9887333 PMID:10234507 PMID:10330348 PMID:11382771 PMID:11826028 PMID:11830610 PMID:14654357 PMID:15054841 PMID:15174027 PMID:16958054 PMID:17001622 PMID:18575927 PMID:18634022 PMID:19431188 PMID:19535770 PMID:19781682 PMID:19823873 PMID:21787400 PMID:21792198 PMID:22345219 PMID:22529920 PMID:23143971 PMID:24088041 PMID:24733792 PMID:25037873 PMID:25040471 PMID:25077176 PMID:25186627 PMID:25525159 PMID:25741868 PMID:25914063 PMID:25980754 PMID:26506520 PMID:26633545 PMID:26681312 PMID:27528516 PMID:27595995 PMID:27798748 PMID:27978560 PMID:27988859 PMID:28008555 PMID:28492532 PMID:28779002 PMID:29719442 PMID:30504431 PMID:30549301 PMID:30819809 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G RGD1311251 similar to RIKEN cDNA 4930550C14 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia variant ClinVar PMID:8755918 PMID:8808599 PMID:9000145 PMID:9288106 PMID:9463314 PMID:9792410 PMID:9887333 PMID:10234507 PMID:10330348 PMID:11382771 PMID:11826028 PMID:11830610 PMID:14654357 PMID:15174027 PMID:16958054 PMID:17001622 PMID:18575927 PMID:18634022 PMID:19431188 PMID:19781682 PMID:19823873 PMID:21787400 PMID:21792198 PMID:22345219 PMID:22529920 PMID:23143971 PMID:24088041 PMID:24733792 PMID:25037873 PMID:25040471 PMID:25077176 PMID:25186627 PMID:25741868 PMID:25914063 PMID:25980754 PMID:26506520 PMID:26633545 PMID:26681312 PMID:27528516 PMID:27595995 PMID:27798748 PMID:27978560 PMID:27988859 PMID:28008555 PMID:28492532 PMID:28779002 PMID:29719442 PMID:30504431 PMID:30549301 NCBI chr 8:57,983,168...58,012,474
Ensembl chr 8:57,983,556...58,011,962
JBrowse link
Ataxia-Telangiectasia-Like Disorder 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mre11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1
ClinVar Annotator: match by OMIM:604391
OMIM
ClinVar
PMID:8445618 PMID:8684395 PMID:9845372 PMID:10612394 PMID:11196167 PMID:11238951 PMID:11371508 PMID:12966088 PMID:14684699 PMID:14690604 PMID:15269180 PMID:15574463 PMID:16858402 PMID:18652530 PMID:18854157 PMID:19383352 PMID:20052722 PMID:20805886 PMID:21227757 PMID:21252998 PMID:21324166 PMID:22006311 PMID:22078559 PMID:22139912 PMID:22705791 PMID:22863007 PMID:23080121 PMID:23436002 PMID:23718828 PMID:23755103 PMID:23912341 PMID:24030952 PMID:24033266 PMID:24332946 PMID:24549055 PMID:24733832 PMID:24763289 PMID:24894818 PMID:25040471 PMID:25326635 PMID:25452441 PMID:25503501 PMID:25741868 PMID:26467025 PMID:26483394 PMID:26534844 PMID:26633542 PMID:26680607 PMID:26786923 PMID:26787654 PMID:26845104 PMID:26898890 PMID:27124789 PMID:27153395 PMID:27329137 PMID:27621404 PMID:27783279 PMID:27878467 PMID:28051113 PMID:28125075 PMID:28152038 PMID:28202063 PMID:28486781 PMID:28492532 PMID:28559769 PMID:28849312 PMID:29170652 PMID:29348823 PMID:29752822 PMID:29922827 PMID:30441849 PMID:31159747 PMID:32566746 NCBI chr 8:13,304,355...13,350,329
Ensembl chr 8:13,305,152...13,352,489
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 3:124,880,698...124,884,570
Ensembl chr 3:124,880,698...124,884,570
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 ClinVar Annotator: match by term: Basan syndrome ClinVar
OMIM
PMID:20619487 PMID:21820097 PMID:24664640 PMID:26932190 NCBI chr 4:95,884,020...95,945,248
Ensembl chr 4:95,884,743...95,945,248
JBrowse link
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dusp29 dual specificity phosphatase 29 ISO ClinVar Annotator: match by term: Young Simpson syndrome ClinVar PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:23436491 PMID:25326637 PMID:25741868 PMID:27696664 NCBI chr15:2,766,929...2,806,573
Ensembl chr15:2,766,710...2,806,536
JBrowse link
G Kat6b 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: Young Simpson syndrome
ClinVar Annotator: match by OMIM:603736
ClinVar
OMIM
PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:23436491 PMID:25326637 PMID:25424711 PMID:25741868 PMID:26334766 PMID:26938784 PMID:27696664 PMID:28758091 PMID:30353918, PMID:22077973 RGD:9588484 NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
JBrowse link
cardiofaciocutaneous syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO DNA:mutations:cds:multiple(human)
ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
ClinVar Annotator: match by term: CFC syndrome
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome
DNA:mutation:cds:p.Q241R(mouse)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:115150
ClinVar
CTD
PMID:4386970 PMID:5771505 PMID:8042262 PMID:12068308 PMID:12198537 PMID:12438234 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12692057 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14678966 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16372351 PMID:16439621 PMID:16474404 PMID:16523510 PMID:16772349 PMID:16804887 PMID:16825433 PMID:17366577 PMID:17374713 PMID:17483702 PMID:17488796 PMID:17496923 PMID:17551924 PMID:17603483 PMID:17703371 PMID:17704260 PMID:17785355 PMID:18039235 PMID:18042262 PMID:18060073 PMID:18186519 PMID:18398503 PMID:18413255 PMID:18451217 PMID:18456719 PMID:18470943 PMID:18794803 PMID:18854871 PMID:18953432 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19206169 PMID:19238210 PMID:19376813 PMID:19404918 PMID:19416762 PMID:19537845 PMID:19561230 PMID:19735675 PMID:20008640 PMID:20141835 PMID:20186801 PMID:20350999 PMID:20395089 PMID:20413299 PMID:20523244 PMID:20619739 PMID:20630094 PMID:20735442 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21063443 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21784453 PMID:21871821 PMID:21975775 PMID:22038996 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22190897 PMID:22281684 PMID:22301711 PMID:22310681 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22495831 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22876591 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23093928 PMID:23251002 PMID:23273605 PMID:23302800 PMID:23312806 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23680146 PMID:23685455 PMID:23763990 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23875798 PMID:23907581 PMID:23918947 PMID:24033266 PMID:24037001 PMID:24088041 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24283439 PMID:24388723 PMID:24409384 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:24719372 PMID:24775816 PMID:24918823 PMID:25024077 PMID:25035421 PMID:25037139 PMID:25079330 PMID:25155755 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25348715 PMID:25370471 PMID:25399551 PMID:25463315 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26242988 PMID:26472072 PMID:26619011 PMID:26633545 PMID:26678033 PMID:27322245 PMID:27404270 PMID:27478040 PMID:27480103 PMID:27521173 PMID:28404629 PMID:28492532 PMID:28524057 PMID:28854169 PMID:28891408 PMID:28911804 PMID:29084544 PMID:29493581 PMID:29925953 PMID:30290804 PMID:30581057 PMID:30820351 PMID:31474318 PMID:31560489 PMID:31779674 PMID:31891627, PMID:16474404, PMID:25035421, PMID:21383153 RGD:1600471, RGD:11352608, RGD:11567236 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17703371 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO DNA:missense mutations:CDS:p.G60R, p.D153V (human)
ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16474404 PMID:17056636 PMID:17703371 PMID:20186801 PMID:20949621 PMID:21797849 PMID:23059812 PMID:24033266 PMID:24803665 PMID:26242988 PMID:28492532 PMID:28650561, PMID:16474404 RGD:1600471 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Map2k1 mitogen activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: CARDIOFACIOCUTANEOUS SYNDROME 1
ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
ClinVar Annotator: match by term: CFC syndrome
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1804226 PMID:16439621 PMID:17366577 PMID:17551924 PMID:17567882 PMID:17703371 PMID:17704260 PMID:17981815 PMID:18039235 PMID:18042262 PMID:18060073 PMID:18413255 PMID:18632602 PMID:18854871 PMID:19156172 PMID:19376813 PMID:19411838 PMID:19915144 PMID:20354455 PMID:21062266 PMID:21107320 PMID:22177953 PMID:22197931 PMID:22327936 PMID:22848035 PMID:23093928 PMID:23444215 PMID:23569304 PMID:24033266 PMID:24101678 PMID:24236184 PMID:24637312 PMID:24803665 PMID:25049390 PMID:25157968 PMID:25326635 PMID:25741868 PMID:26350204 PMID:26619011 PMID:26795593 PMID:27862862 PMID:28049852 PMID:28492532 PMID:29493581 PMID:29643386 PMID:30763456 NCBI chr 8:69,134,218...69,722,573
Ensembl chr 8:69,134,223...69,164,758
JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome
ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16439621 PMID:17703371 PMID:17981815 PMID:18039235 PMID:18042262 PMID:18413255 PMID:20358587 PMID:24033266 PMID:24265153 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29493581 NCBI chr 7:11,458,971...11,478,520
Ensembl chr 7:11,458,967...11,478,489
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17703371 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar NCBI chr 2:188,087,486...188,099,444
Ensembl chr 2:188,087,486...188,099,444
JBrowse link
G Snapc5 small nuclear RNA activating complex, polypeptide 5 ISO ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar NCBI chr 8:69,127,708...69,131,539
Ensembl chr 8:69,127,708...69,131,539
JBrowse link
cardiofaciocutaneous syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 ClinVar
OMIM
PMID:3265306 PMID:4386970 PMID:5771505 PMID:12068308 PMID:15035987 PMID:16007634 PMID:16372351 PMID:16439621 PMID:16474404 PMID:16523510 PMID:16804887 PMID:16825433 PMID:17366577 PMID:17437909 PMID:17483702 PMID:17496923 PMID:17551924 PMID:17603482 PMID:17603483 PMID:17703371 PMID:17704260 PMID:18039235 PMID:18042262 PMID:18186519 PMID:18413255 PMID:18451217 PMID:18456719 PMID:18470943 PMID:18794803 PMID:18854871 PMID:18953432 PMID:19206169 PMID:19376813 PMID:19416762 PMID:19537845 PMID:20186801 PMID:20301365 PMID:20350999 PMID:20523244 PMID:20859831 PMID:21063443 PMID:21129611 PMID:21784453 PMID:22190897 PMID:22301711 PMID:22310681 PMID:22495831 PMID:22876591 PMID:22907230 PMID:23093928 PMID:23273605 PMID:23312806 PMID:23875798 PMID:23950000 PMID:24033266 PMID:24037001 PMID:24088041 PMID:24283439 PMID:24409384 PMID:24451042 PMID:24719372 PMID:24728327 PMID:24775816 PMID:24803665 PMID:25035421 PMID:25157968 PMID:25463315 PMID:25741868 PMID:26242988 PMID:26472072 PMID:26619011 PMID:26633545 PMID:27322245 PMID:27391121 PMID:27478040 PMID:28404629 PMID:28492532 PMID:28650561 PMID:28911804 PMID:29084544 PMID:29907801 PMID:30290804 PMID:30581057 PMID:31474318 PMID:31560489 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 ClinVar PMID:8234268 PMID:17056636 PMID:18958496 PMID:21784453 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
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 chr 7:11,458,971...11,478,520
Ensembl chr 7:11,458,967...11,478,489
JBrowse link
cardiofaciocutaneous syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 2
ClinVar Annotator: match by OMIM:615278
OMIM
ClinVar
PMID:7877967 PMID:8246952 PMID:16474404 PMID:16474405 PMID:16773572 PMID:17056636 PMID:17551339 PMID:17601930 PMID:17875937 PMID:17875939 PMID:18386799 PMID:18456719 PMID:20949621 PMID:21062266 PMID:21797849 PMID:21871821 PMID:23059812 PMID:24033266 PMID:24703799 PMID:24803665 PMID:25326637 PMID:25741868 PMID:26037647 PMID:26242988 PMID:28492532 PMID:28650561 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
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
OMIM
PMID:1804226 PMID:16439621 PMID:17366577 PMID:17551924 PMID:17567882 PMID:17704260 PMID:17981815 PMID:18039235 PMID:18042262 PMID:18060073 PMID:18413255 PMID:18632602 PMID:18854871 PMID:19156172 PMID:19376813 PMID:19411838 PMID:19915144 PMID:21062266 PMID:22177953 PMID:22197931 PMID:22327936 PMID:22588879 PMID:22848035 PMID:23093928 PMID:24033266 PMID:24101678 PMID:24236184 PMID:24637312 PMID:25049390 PMID:25157968 PMID:25326635 PMID:25423878 PMID:25741868 PMID:25741869 PMID:26350204 PMID:26619011 PMID:26795593 PMID:27862862 PMID:28049852 PMID:28492532 PMID:30763456 NCBI chr 8:69,134,218...69,722,573
Ensembl chr 8:69,134,223...69,164,758
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 OMIM
ClinVar
PMID:16439621 PMID:17366577 PMID:17981815 PMID:18042262 PMID:18413255 PMID:19156172 PMID:19376813 PMID:20358587 PMID:21178588 PMID:22753777 PMID:24033266 PMID:24265153 PMID:24803665 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29493581 PMID:29696744 NCBI chr 7:11,458,971...11,478,520
Ensembl chr 7:11,458,967...11,478,489
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: Metaphyseal chondrodysplasia, McKusick type ClinVar PMID:8034306 PMID:9156319 PMID:10026268 PMID:11006544 PMID:11207361 PMID:11940090 PMID:12107819 PMID:12888988 PMID:14569119 PMID:16097009 PMID:16254002 PMID:16838329 PMID:17701897 PMID:25741868 PMID:28094436 PMID:28492532 NCBI chr 5:58,995,211...58,998,620
Ensembl chr 5:58,995,249...58,997,953
JBrowse link
CEDNIK syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: CEDNIK syndrome
ClinVar Annotator: match by term: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
OMIM
ClinVar
PMID:15968592 PMID:19350501 PMID:21073448 PMID:23231787 PMID:25356970 PMID:25473036 PMID:25741868 PMID:25958742 PMID:26467025 PMID:28492532 NCBI chr11:87,827,633...87,858,107
Ensembl chr11:87,827,651...87,858,107
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: Zunich neuroectodermal syndrome
ClinVar Annotator: match by OMIM:280000
OMIM
ClinVar
PMID:3041916 PMID:7666399 PMID:8893234 PMID:18414213 PMID:22444671 PMID:23561846 PMID:24784135 PMID:25250048 PMID:25741868 PMID:28371479 PMID:28492532 NCBI chr10:48,774,018...48,831,848
Ensembl chr10:48,773,828...48,831,855
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: VAN ASPEREN SYNDROME
ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome
CTD
ClinVar
PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 PMID:30665703 PMID:30763456 NCBI chr10:67,531,989...67,551,237 JBrowse link
cleft lip-palate-ectodermal dysplasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:225060
OMIM
ClinVar
CTD
PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 PMID:16195396 PMID:16674562 PMID:17089422 PMID:18223281 PMID:19132250 PMID:19715471 PMID:23560673 PMID:24560896 PMID:25741868 PMID:28492532 NCBI chr 8:48,094,233...48,198,499
Ensembl chr 8:48,094,673...48,157,305
JBrowse link
Clouston syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb6 gap junction protein, beta 6 ISO ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia syndrome ClinVar
OMIM
PMID:10610709 PMID:11017065 PMID:11874494 PMID:12419304 PMID:12788524 PMID:14708603 PMID:15213106 PMID:15769851 PMID:16547895 PMID:16950989 PMID:20536673 PMID:23219093 PMID:23863883 PMID:23926005 PMID:23981984 PMID:24033266 PMID:24514865 PMID:24522190 PMID:24685692 PMID:25262649 PMID:25741868 PMID:26551294 PMID:27137747 PMID:27817781 PMID:28492532 PMID:28501645 NCBI chr15:37,400,888...37,411,656
Ensembl chr15:37,400,889...37,410,848
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
ClinVar Annotator: match by term: Congenital heart defects and ectodermal dysplasia
ClinVar
OMIM
PMID:25741868 PMID:27479907 NCBI chr 6:71,035,017...71,349,531
Ensembl chr 6:71,035,332...71,349,249
JBrowse link
cranioectodermal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift122 intraflagellar transport 122 ISO ClinVar Annotator: match by OMIM:218330
ClinVar Annotator: match by term: Cranioectodermal dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:23826986 PMID:25741868 PMID:28492532 NCBI chr 4:147,756,574...147,826,983
Ensembl chr 4:147,756,553...147,826,997
JBrowse link
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 6:109,939,323...110,016,646
Ensembl chr 6:109,939,345...110,016,644
JBrowse link
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia ClinVar PMID:25741868 NCBI chr 6:34,071,428...34,091,048
Ensembl chr 6:34,071,428...34,091,048
JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia ClinVar NCBI chr 6:109,913,757...109,936,217
Ensembl chr 6:109,913,757...109,935,533
JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:23559409 PMID:25726036 PMID:25741868 PMID:26260382 PMID:27596865 PMID:28492532 PMID:28621010 PMID:32165824 NCBI chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120
JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:28332779 PMID:28492532 PMID:29068549 NCBI chr 6:34,094,291...34,152,048
Ensembl chr 6:34,094,306...34,151,622
JBrowse link
cranioectodermal dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 ClinVar
OMIM
PMID:17022080 PMID:19648123 PMID:19760620 PMID:20493458 PMID:23826986 PMID:25741868 PMID:26792575 PMID:28370949 PMID:28492532 PMID:29037998 NCBI chr 4:147,756,574...147,826,983
Ensembl chr 4:147,756,553...147,826,997
JBrowse link
cranioectodermal dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar NCBI chr 6:34,071,428...34,091,048
Ensembl chr 6:34,071,428...34,091,048
JBrowse link
G Spag17 sperm associated antigen 17 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar NCBI chr 2:202,159,659...202,452,361
Ensembl chr 2:202,200,797...202,443,026
JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2
DNA:missense mutation:cds:p.L520P (human)
ClinVar Annotator: match by OMIM:613610
OMIM
ClinVar
PMID:20817137 PMID:21473986 PMID:22486404 PMID:22987818 PMID:24033266 PMID:24123776 PMID:25326635 PMID:25741868 PMID:25908617 PMID:25914204 PMID:26691894 PMID:28332779 PMID:28492532 PMID:28870638 PMID:29068549, PMID:22987818 RGD:11553909 NCBI chr 6:34,094,291...34,152,048
Ensembl chr 6:34,094,306...34,151,622
JBrowse link
cranioectodermal dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 3
ClinVar Annotator: match by OMIM:614099
OMIM
ClinVar
PMID:21378380 NCBI chr 6:109,939,323...110,016,646
Ensembl chr 6:109,939,345...110,016,644
JBrowse link
cranioectodermal dysplasia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 4
DNA:missense mutation:cds:p.L750P (mouse)
ClinVar Annotator: match by OMIM:614378
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22019273 PMID:23683095 PMID:25741868 PMID:27241786 PMID:28492532, PMID:22228095 RGD:11552606 NCBI chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120
JBrowse link
dermatopathia pigmentosa reticularis 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: Dermatopathia pigmentosa reticularis
ClinVar Annotator: match by OMIM:125595
OMIM
ClinVar
PMID:1303619 PMID:7525408 PMID:8875963 PMID:16960809 PMID:25741868 NCBI chr10:88,118,029...88,122,233
Ensembl chr10:88,055,823...88,122,233
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 ClinVar
OMIM
PMID:8696334 PMID:9507389 PMID:9630076 PMID:9683615 PMID:9736768 PMID:9856856 PMID:10951256 PMID:11279189 PMID:11295832 PMID:11309369 PMID:11378824 PMID:11416205 PMID:12949972 PMID:14656435 PMID:15461765 PMID:15663448 PMID:17066260 PMID:17970812 PMID:18076698 PMID:18231121 PMID:18384562 PMID:18386312 PMID:18427821 PMID:18451855 PMID:18510547 PMID:18545687 PMID:18657636 PMID:18666859 PMID:18821982 PMID:19278982 PMID:19533796 PMID:19592680 PMID:19623212 PMID:19921643 PMID:20236127 PMID:20374512 PMID:20486090 PMID:20979233 PMID:21357618 PMID:21457804 PMID:22032522 PMID:22382802 PMID:22428923 PMID:22875504 PMID:23293949 PMID:23553579 PMID:23744313 PMID:23926003 PMID:23989902 PMID:23991204 PMID:24033266 PMID:24279917 PMID:24312213 PMID:24487376 PMID:24648697 PMID:24689965 PMID:24724966 PMID:25333067 PMID:25626993 PMID:25741868 PMID:26273176 PMID:26634545 PMID:26753551 PMID:27054699 PMID:27144394 PMID:27305980 PMID:27538153 PMID:27657131 PMID:28045201 PMID:28492532, PMID:8696334 RGD:1598881 NCBI chr  X:69,730,123...70,222,693
Ensembl chr  X:69,730,242...70,220,329
JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:66,560,200...66,602,509
Ensembl chr  X:66,561,286...66,602,506
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:18065779 PMID:18561327 PMID:18704500 PMID:25741868 PMID:28492532 NCBI chr20:28,179,132...28,263,092
Ensembl chr20:28,179,140...28,263,037
JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:17847007 PMID:19559398 PMID:21484994 PMID:22581971 PMID:23401279 PMID:24033266 PMID:24449199 PMID:24700731 PMID:25629078 PMID:25741868 PMID:26964878 PMID:27881089 PMID:28166811 PMID:28492532 PMID:28813618 PMID:28976000 PMID:29364747 PMID:30426266 PMID:30974434 NCBI chr 9:82,053,581...82,066,047
Ensembl chr 9:82,053,581...82,066,047
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:28492532 NCBI chr20:28,076,784...28,158,053
Ensembl chr20:28,078,500...28,157,071
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic
ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant
ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia syndrome
ClinVar Annotator: match by OMIM:129490
ClinVar
OMIM
PMID:9536098 PMID:10431241 PMID:11035039 PMID:11279189 PMID:15013427 PMID:16435307 PMID:17125505 PMID:17576681 PMID:18231121 PMID:18854857 PMID:20236127 PMID:20979233 PMID:21771270 PMID:22032522 PMID:23401279 PMID:23991204 PMID:24033266 PMID:24641098 PMID:24884697 PMID:25741868 PMID:26336973 PMID:27305980 PMID:27657131 PMID:28265457 PMID:28492532 PMID:33205897, PMID:10431241 RGD:1598883 NCBI chr20:28,179,132...28,263,092
Ensembl chr20:28,179,140...28,263,037
JBrowse link
G Edaradd EDAR-associated death domain ISO ClinVar Annotator: match by OMIM:129490
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17354266 NCBI chr17:90,802,280...90,843,476
Ensembl chr17:90,802,393...90,843,485
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT ClinVar PMID:28492532 NCBI chr20:28,027,054...28,076,664
NCBI chr20:28,365,538...28,375,676
Ensembl chr20:28,027,054...28,076,664
Ensembl chr20:28,027,054...28,076,664
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: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome ClinVar PMID:28492532 NCBI chr20:28,076,784...28,158,053
Ensembl chr20:28,078,500...28,157,071
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
ClinVar Annotator: match by OMIM:224900
OMIM
ClinVar
PMID:10431241 PMID:11035039 PMID:11279189 PMID:15013427 PMID:15373768 PMID:16435307 PMID:17125505 PMID:18231121 PMID:18816645 PMID:20236127 PMID:20979233 PMID:21771270 PMID:22032522 PMID:23401279 PMID:23991204 PMID:24641098 PMID:24884697 PMID:25741868 PMID:26336973 PMID:27305980 PMID:27657131 PMID:28265457 PMID:28492532 NCBI chr20:28,179,132...28,263,092
Ensembl chr20:28,179,140...28,263,037
JBrowse link
G Edaradd EDAR-associated death domain ISO ClinVar Annotator: match by OMIM:224900
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9245989 PMID:11780064 PMID:17354266 NCBI chr17:90,802,280...90,843,476
Ensembl chr17:90,802,393...90,843,485
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE ClinVar PMID:28492532 NCBI chr20:28,027,054...28,076,664
NCBI chr20:28,365,538...28,375,676
Ensembl chr20:28,027,054...28,076,664
Ensembl chr20:28,027,054...28,076,664
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 death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant
ClinVar Annotator: match by OMIM:614940
OMIM
ClinVar
PMID:17354266 PMID:20222921 PMID:20979233 PMID:21626677 PMID:25741868 PMID:28492532 NCBI chr17:90,802,280...90,843,476
Ensembl chr17:90,802,393...90,843,485
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 PMID:20979233 PMID:23401279 PMID:25741868 PMID:27657131 PMID:28492532 NCBI chr20:28,179,132...28,263,092
Ensembl chr20:28,179,140...28,263,037
JBrowse link
G Edaradd EDAR-associated death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive
ClinVar Annotator: match by OMIM:614941
OMIM
ClinVar
PMID:9245989 PMID:11780064 PMID:17354266 PMID:25741868 PMID:26991760 NCBI chr17:90,802,280...90,843,476
Ensembl chr17:90,802,393...90,843,485
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 ClinVar
OMIM
PMID:27838789 NCBI chr 5:151,740,902...151,752,863
Ensembl chr 5:151,741,817...151,752,597
JBrowse link
ectodermal dysplasia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kremen1 kringle containing transmembrane protein 1 ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE ClinVar
OMIM
PMID:27049303 NCBI chr14:85,441,209...85,503,661
Ensembl chr14:85,438,707...85,484,275
JBrowse link
ectodermal dysplasia 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tspear thrombospondin-type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: TSPEAR-related disorder of tooth and hair follicle morphogenesis
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: ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS
ClinVar
OMIM
PMID:22678063 PMID:24033266 PMID:25741868 PMID:25855803 PMID:26467025 PMID:27736875 PMID:28492532 PMID:29144512 PMID:30046887 NCBI chr20:11,501,510...11,529,210
Ensembl chr20:11,501,925...11,528,332
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:30425301 NCBI chr 1:220,727,292...220,729,000
Ensembl chr 1:220,727,292...220,729,000
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 chr 7:144,531,814...144,538,298
Ensembl chr 7:144,531,814...144,537,966
JBrowse link
G Krt85 keratin 85 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 4, hair/nail type OMIM
ClinVar
PMID:16525032 PMID:19865094 PMID:24033266 PMID:25741868 NCBI chr 7:143,160,480...143,167,828
Ensembl chr 7:143,161,235...143,167,772
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 ClinVar Annotator: match by term: Ectodermal dysplasia 9, hair/nail type
ClinVar Annotator: match by OMIM:614931
OMIM
ClinVar
PMID:23063621 PMID:23315978 PMID:25741868 NCBI chr 7:144,531,814...144,538,298
Ensembl chr 7:144,531,814...144,537,966
JBrowse link
Ectodermal Dysplasia and Immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA ClinVar PMID:25741868 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit 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
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia with immune deficiency
DNA:mutation:splicing site:
ClinVar Annotator: match by OMIM:300291
ClinVar Annotator: match by synonym: EDA-ID
OMIM
ClinVar
PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 PMID:11242109 PMID:11484156 PMID:11590134 PMID:12045264 PMID:14726382 PMID:15100680 PMID:15833888 PMID:16228229 PMID:16333836 PMID:16379012 PMID:16532398 PMID:16818673 PMID:16950813 PMID:17072331 PMID:17910706 PMID:18851874 PMID:19903677 PMID:21622647 PMID:24682681 PMID:25741868 PMID:26117626 PMID:29077208, PMID:16333836 RGD:12791265 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link
Ectodermal Dysplasia and Immunodeficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfkbia NFKB 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
ClinVar Annotator: match by OMIM:612132
OMIM
ClinVar
PMID:14523047 PMID:15337789 PMID:17931563 PMID:18412279 PMID:23708964 PMID:23864385 PMID:23870671 PMID:24033266 PMID:25741868 PMID:26888281 PMID:27577878 PMID:28166811 PMID:28417298 PMID:28492532 PMID:29948576 NCBI chr 6:76,267,227...76,270,457
Ensembl chr 6:76,267,228...76,270,457
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 ClinVar Annotator: match by term: EEM syndrome
ClinVar Annotator: match by OMIM:225280
OMIM
ClinVar
PMID:9536098 PMID:10420194 PMID:13372143 PMID:14708629 PMID:15805154 PMID:17576681 PMID:25741868 PMID:28041643 PMID:28492532 NCBI chr19:38,668,957...38,719,801
Ensembl chr19:38,669,230...38,719,677
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: Ectodermal dysplasia skin fragility syndrome ClinVar PMID:18632414 PMID:21636032 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 PMID:28492532 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
G Pkp1 plakophilin 1 ISO ClinVar Annotator: match by term: Ectodermal dysplasia skin fragility syndrome
ClinVar Annotator: match by OMIM:604536
OMIM
ClinVar
PMID:9326952 PMID:10951270 PMID:11994137 PMID:16781314 PMID:24073657 PMID:25741868 PMID:28492532 NCBI chr13:52,705,174...52,753,089
Ensembl chr13:52,705,174...52,752,997
JBrowse link
Ectodermal Dysplasia-Syndactyly Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nectin4 nectin cell adhesion molecule 4 ISO ClinVar Annotator: match by term: Ectodermal dysplasia-syndactyly syndrome 1
ClinVar Annotator: match by OMIM:613573
OMIM
ClinVar
PMID:20691405 PMID:21346770 PMID:24577405 PMID:25529316 PMID:25741868 PMID:28492532 NCBI chr13:89,755,665...89,774,185
Ensembl chr13:89,755,845...89,774,378
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 ClinVar
OMIM
PMID:25152456 PMID:25741868 NCBI chr 7:76,058,623...76,197,360
Ensembl chr 7:76,059,386...76,197,856
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 Tp63 tumor protein p63 susceptibility ISO DNA:frameshift mutation, missense mutations: :multiple
ClinVar Annotator: match by term: EEC SYNDROME 3
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
DNA:nonsense mutation: :p.Q16X (human)
DNA:missense mutations:exon:p.R280C, p.R304Q (human)
DNA:missense mutation:exon:p.R279H (835G>A)
ClinVar Annotator: match by OMIM:604292
ClinVar Annotator: match by null
ClinVar
CTD
OMIM
PMID:8737655 PMID:9028452 PMID:9443880 PMID:10535733 PMID:10839977 PMID:10936828 PMID:11462173 PMID:12161593 PMID:12445213 PMID:12525544 PMID:12838557 PMID:12939657 PMID:16691622 PMID:17041931 PMID:17431922 PMID:18326838 PMID:18626511 PMID:18792980 PMID:19353588 PMID:19663851 PMID:19903181 PMID:20180707 PMID:20543567 PMID:21078104 PMID:21204238 PMID:21652629 PMID:23355676 PMID:23431748 PMID:23463580 PMID:23775923 PMID:24734328 PMID:25741868 PMID:25983622 PMID:26380986 PMID:26882220 PMID:27028492 PMID:27798044 PMID:28293528 PMID:28492532 PMID:29130604 PMID:29620206, PMID:10535733, PMID:26470833, PMID:12161593, PMID:11903230 RGD:1600403, RGD:11532814, RGD:11568642, RGD:11568640 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
JBrowse link
EEC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO 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
PMID:10535733 PMID:10839977 PMID:11462173 PMID:12161593 PMID:12445213 PMID:12525544 PMID:12939657 PMID:16691622 PMID:18326838 PMID:18626511 PMID:18792980 PMID:19353588 PMID:19663851 PMID:19903181 PMID:20180707 PMID:20543567 PMID:21078104 PMID:21652629 PMID:23355676 PMID:23431748 PMID:23463580 PMID:23775923 PMID:24734328 PMID:25741868 PMID:26380986 PMID:26882220 PMID:27028492 PMID:27798044 PMID:28293528 PMID:28492532 PMID:29130604 PMID:29620206, PMID:25983622, PMID:11462173, PMID:19903181, PMID:15324320, PMID:23775923 RGD:11568639, RGD:11568638, RGD:11070288, RGD:11568075, RGD:11568074 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
JBrowse link
Ellis-Van Creveld syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc39 coiled-coil domain containing 39 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia ClinVar PMID:23255504 PMID:24498942 PMID:25741868 PMID:28492532 NCBI chr 2:120,278,605...120,367,829
Ensembl chr 2:120,278,605...120,316,600
JBrowse link
G Evc EvC ciliary complex subunit 1 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Ellis-van Creveld syndrome
ClinVar Annotator: match by term: Ellis-van Creveld Syndrome
ClinVar Annotator: match by term: Chondroectodermal dysplasia
ClinVar Annotator: match by OMIM:225500
ClinVar
OMIM
PMID:7628126 PMID:7635486 PMID:9066272 PMID:9536098 PMID:10700162 PMID:10700184 PMID:14217223 PMID:17024374 PMID:17576681 PMID:18454448 PMID:18947413 PMID:19251731 PMID:19744229 PMID:19810119 PMID:19876929 PMID:20184732 PMID:22190900 PMID:23220543 PMID:24431330 PMID:25174843 PMID:25492405 PMID:25741868 PMID:26621368 PMID:28492532 PMID:28854412 PMID:29068549 PMID:29229899 PMID:29321360 PMID:31319225 PMID:31338997, PMID:10700184 RGD:1302823 NCBI chr14:78,213,601...78,253,266
Ensembl chr14:78,213,635...78,253,266
JBrowse link
G Evc2 EvC ciliary complex subunit 2 susceptibility ISO DNA:mutations
ClinVar Annotator: match by term: Ellis-van Creveld syndrome
ClinVar Annotator: match by term: Chondroectodermal dysplasia
ClinVar Annotator: match by term: Ellis-van Creveld Syndrome
ClinVar Annotator: match by OMIM:225500
ClinVar
OMIM
PMID:7218275 PMID:9536098 PMID:12468274 PMID:12571802 PMID:16404586 PMID:17024374 PMID:17576681 PMID:18454448 PMID:19251731 PMID:19810119 PMID:19876929 PMID:20184732 PMID:21199751 PMID:21815252 PMID:22190900 PMID:22406498 PMID:23026208 PMID:23220543 PMID:24033266 PMID:25047945 PMID:25174843 PMID:25326635 PMID:25500235 PMID:25525159 PMID:25741868 PMID:26580685 PMID:26748586 PMID:26818569 PMID:27168972 PMID:27280866 PMID:28492532 PMID:29068549, PMID:12571802 RGD:1600212 NCBI chr14:78,128,620...78,212,394
Ensembl chr14:78,129,749...78,211,931
JBrowse link
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia ClinVar PMID:25741868 NCBI chr 9:98,621,499...98,658,223
Ensembl chr 9:98,621,506...98,656,901
JBrowse link
G Wdr35 WD repeat domain 35 ISO DNA:snps:introns, cds:multiple (human)
ClinVar Annotator: match by term: Chondroectodermal dysplasia
ClinVar PMID:25741868, PMID:25908617 RGD:11073852 NCBI chr 6:34,094,291...34,152,048
Ensembl chr 6:34,094,306...34,151,622
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 ClinVar Annotator: match by term: Encephalocraniocutaneous lipomatosis ClinVar
OMIM
PMID:10766980 PMID:23819449 PMID:25705862 PMID:25741868 PMID:26619011 PMID:26822237 PMID:26942290 PMID:27626068 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
Facial Ectodermal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31570889 NCBI chr 8:117,082,440...117,116,244
Ensembl chr 8:117,106,576...117,116,167
JBrowse link
G Twist2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by OMIM:227260 OMIM
ClinVar
PMID:8818454 PMID:14069095 PMID:20691403 PMID:21931173 NCBI chr 9:98,924,134...98,968,510
Ensembl chr 9:98,924,134...98,968,510
JBrowse link
focal dermal hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Porcn porcupine O-acyltransferase ISO ClinVar Annotator: match by term: Focal dermal hypoplasia
ClinVar Annotator: match by OMIM:305600
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:17546030 PMID:17546031 PMID:18325042 PMID:19309688 PMID:19586929 PMID:19863546 PMID:25741868 NCBI chr  X:15,035,569...15,048,440
Ensembl chr  X:15,035,569...15,048,440
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Gorlin-Goltz Syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
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:22508808 PMID:25403219 PMID:25741868 PMID:28492532 NCBI chr 1:266,143,766...266,241,742
Ensembl chr 1:266,143,818...266,239,016
JBrowse link
Focal Facial Dermal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp26c1 cytochrome P450, family 26, subfamily C, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:256,369,410...256,380,649
Ensembl chr 1:256,370,850...256,378,335
JBrowse link
Focal Facial Dermal Dysplasia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp26c1 cytochrome P450, family 26, subfamily C, polypeptide 1 ISO ClinVar Annotator: match by term: Focal facial dermal dysplasia 4
ClinVar Annotator: match by OMIM:614974
OMIM
ClinVar
PMID:16530710 PMID:23161670 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29263414 NCBI chr 1:256,369,410...256,380,649
Ensembl chr 1:256,370,850...256,378,335
JBrowse link
hypohidrotic ectodermal dysplasia 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 3, Anhidrotic ClinVar PMID:28492532 NCBI chr20:28,076,784...28,158,053
Ensembl chr20:28,078,500...28,157,071
JBrowse link
G Eda ectodysplasin-A ISS
ISO
OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100
ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia
MouseDO
ClinVar
PMID:8696334 PMID:9507389 PMID:9630076 PMID:9683615 PMID:9736768 PMID:9856856 PMID:10951256 PMID:11279189 PMID:11295832 PMID:11309369 PMID:11378824 PMID:11416205 PMID:12949972 PMID:14656435 PMID:15461765 PMID:15663448 PMID:17066260 PMID:17970812 PMID:18076698 PMID:18231121 PMID:18384562 PMID:18386312 PMID:18427821 PMID:18451855 PMID:18510547 PMID:18545687 PMID:18657636 PMID:18666859 PMID:18821982 PMID:19278982 PMID:19533796 PMID:19592680 PMID:19623212 PMID:19921643 PMID:20236127 PMID:20374512 PMID:20486090 PMID:20979233 PMID:21357618 PMID:21457804 PMID:22032522 PMID:22382802 PMID:22428923 PMID:22875504 PMID:23293949 PMID:23553579 PMID:23744313 PMID:23926003 PMID:23989902 PMID:23991204 PMID:24033266 PMID:24279917 PMID:24312213 PMID:24487376 PMID:24648697 PMID:24689965 PMID:24724966 PMID:25333067 PMID:25626993 PMID:25741868 PMID:26273176 PMID:26634545 PMID:26753551 PMID:27054699 PMID:27144394 PMID:27305980 PMID:27538153 PMID:27657131 PMID:28045201 PMID:28492532, PMID:31028034 RGD:14398763 NCBI chr  X:69,730,123...70,222,693
Ensembl chr  X:69,730,242...70,220,329
JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:66,560,200...66,602,509
Ensembl chr  X:66,561,286...66,602,506
JBrowse link
G Edar ectodysplasin-A receptor ISS
ISO
OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100
ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic
ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, HYPOHIDROTIC
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia
MouseDO
ClinVar
PMID:10431241 PMID:11035039 PMID:11279189 PMID:15013427 PMID:16435307 PMID:17125505 PMID:18065779 PMID:18231121 PMID:18561327 PMID:18704500 PMID:20236127 PMID:20979233 PMID:21771270 PMID:22032522 PMID:23401279 PMID:23991204 PMID:24033266 PMID:24641098 PMID:24884697 PMID:25741868 PMID:26336973 PMID:27305980 PMID:27657131 PMID:28265457 PMID:28492532 PMID:28808699 NCBI chr20:28,179,132...28,263,092
Ensembl chr20:28,179,140...28,263,037
JBrowse link
G Edaradd EDAR-associated death domain IAGP
ISO
DNA:missense mutation:exon:p.Pro153Ser(rat)
ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, HYPOHIDROTIC
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia
ClinVar PMID:9245989 PMID:11780064 PMID:17354266 PMID:20222921 PMID:20979233 PMID:21626677 PMID:25741868 PMID:28492532, PMID:22013926 RGD:14398762 NCBI chr17:90,802,280...90,843,476
Ensembl chr17:90,802,393...90,843,485
JBrowse link
G EdaraddswhKyo EDAR-associated death domain;swh Kyo mutant IAGP RGD PMID:22013926 RGD:14398762
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISS OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 MouseDO NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia
ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic
ClinVar PMID:25741868 PMID:28492532 NCBI chr20:28,027,054...28,076,664
NCBI chr20:28,365,538...28,375,676
Ensembl chr20:28,027,054...28,076,664
Ensembl chr20:28,027,054...28,076,664
JBrowse link
G Traf6 TNF receptor associated factor 6 ISS OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 MouseDO NCBI chr 3:91,252,829...91,271,607
Ensembl chr 3:91,252,829...91,271,607
JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:17847007 PMID:19559398 PMID:21484994 PMID:22581971 PMID:23401279 PMID:24033266 PMID:24449199 PMID:24700731 PMID:25629078 PMID:25741868 PMID:26964878 PMID:27881089 PMID:28166811 PMID:28492532 PMID:28813618 PMID:28976000 PMID:29364747 PMID:30426266 PMID:30974434 NCBI chr 9:82,053,581...82,066,047
Ensembl chr 9:82,053,581...82,066,047
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 ClinVar Annotator: match by term: Johanson-Blizzard syndrome
ClinVar Annotator: match by OMIM:243800
OMIM
ClinVar
PMID:16311597 PMID:18553553 PMID:19006206 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:112,800,557...112,910,038
Ensembl chr 3:112,800,557...112,876,773
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: Epidermolysis bullosa with pyloric atresia
ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis with pyloric atresia
ClinVar PMID:9792864 PMID:9892956 PMID:10484780 PMID:11328943 PMID:11886501 PMID:12485428 PMID:18955862 PMID:20301304 PMID:23496044 PMID:25741868 PMID:28492532 NCBI chr10:104,560,322...104,564,499
Ensembl chr10:104,560,303...104,564,480
JBrowse link
G Itga6 integrin subunit alpha 6 ISO ClinVar Annotator: match by term: Epidermolysis bullosa with pyloric atresia
ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis with pyloric atresia
ClinVar Annotator: match by OMIM:226730
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9185503 PMID:25741868 PMID:28492532 NCBI chr 3:58,442,904...58,515,124
Ensembl chr 3:58,443,101...58,515,124
JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis with pyloric atresia
ClinVar Annotator: match by term: Epidermolysis bullosa with pyloric atresia
ClinVar Annotator: match by OMIM:226730
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:6177243 PMID:7545057 PMID:9546354 PMID:9674902 PMID:9792864 PMID:9892956 PMID:10484780 PMID:11251584 PMID:11328943 PMID:11886501 PMID:12485428 PMID:18348258 PMID:18955862 PMID:20301304 PMID:20301336 PMID:23013259 PMID:23496044 PMID:24033266 PMID:25741868 PMID:26739954 PMID:28492532 NCBI chr10:104,524,000...104,560,180
Ensembl chr10:104,523,996...104,561,078
JBrowse link
G Plec plectin ISO ClinVar Annotator: match by OMIM:226730
ClinVar Annotator: match by term: Epidermolysis Bullosa with Pyloric Atresia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11851880 PMID:15810881 PMID:25741868 PMID:28492532 NCBI chr 7:117,230,319...117,291,859
Ensembl chr 7:117,230,319...117,289,961
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
ClinVar Annotator: match by OMIM:245010
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1886537 PMID:9536098 PMID:10581027 PMID:10593994 PMID:10662807 PMID:11180012 PMID:11180601 PMID:11886537 PMID:12112662 PMID:14974080 PMID:17576681 PMID:18809751 PMID:18945301 PMID:23311634 PMID:24033266 PMID:24936511 PMID:25741868 PMID:28242153 PMID:28492532 PMID:29410039 NCBI chr 1:151,918,514...151,949,979
Ensembl chr 1:151,918,571...151,949,983
JBrowse link
linear nevus sebaceous syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Organoid nevus phakomatosis
ClinVar Annotator: match by term: Nevus, Sebaceous of Jadassohn
DNA:mutation:cds:c.37G>C(p.G13R)(human)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:12835555 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:17211612 PMID:17384584 PMID:17979197 PMID:18039947 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19382114 PMID:19773371 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21850009 PMID:22317973 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25695684 PMID:25741868 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 PMID:168335863, PMID:22683711 RGD:11098548 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Nevus, Sebaceous of Jadassohn
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17332249 PMID:17384584 PMID:17910045 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19029981 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19358724 PMID:19679400 PMID:19773371 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:21079152 PMID:21228335 PMID:21975775 PMID:22025163 PMID:22407852 PMID:22499344 PMID:22683711 PMID:23014527 PMID:23096712 PMID:23406027 PMID:25044103 PMID:25157968 PMID:25695684 PMID:25741868 PMID:28492532 PMID:29298116 PMID:31891627 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Nevus, Sebaceous of Jadassohn
ClinVar Annotator: match by term: Organoid nevus phakomatosis
ClinVar PMID:12835555 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:17211612 PMID:17384584 PMID:17979197 PMID:18039947 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19382114 PMID:19773371 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21850009 PMID:22317973 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25695684 PMID:25741868 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 PMID:168335863 NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Nevus, Sebaceous of Jadassohn OMIM
ClinVar
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:12460918 PMID:12727991 PMID:14508525 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18948947 PMID:19075190 PMID:19880792 PMID:20130576 PMID:20179705 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22761467 PMID:22773810 PMID:23392294 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:25157968 PMID:26619011 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
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 OMIM
ClinVar
PMID:9747372 PMID:23122588 PMID:25741868 NCBI chr  X:77,065,427...77,071,676
Ensembl chr  X:77,065,397...77,071,676
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 chain susceptibility ISO DNA:SNP:splice junction:
ClinVar Annotator: match by term: Marshall syndrome
ClinVar Annotator: match by OMIM:154780
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9129742 PMID:9529347 PMID:9792885 PMID:10486316 PMID:13520885 PMID:17236192 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32963807, PMID:9529347 RGD:1600881 NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523
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 chain ISO ClinVar Annotator: match by term: Marshall/Stickler syndrome ClinVar PMID:1536174 PMID:10486316 NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523
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 OMIM:161000
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8496458 PMID:13141721 PMID:16960809 NCBI chr10:88,118,029...88,122,233
Ensembl chr10:88,055,823...88,122,233
JBrowse link
neurilemmomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lztr1 leucine-zipper-like transcription regulator 1 susceptibility ISO ClinVar Annotator: match by OMIM:615670
ClinVar Annotator: match by term: Schwannomatosis 2
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:24362817 PMID:25303977 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 PMID:27921248 PMID:28492532 PMID:29384852 PMID:29409008 PMID:29469822 PMID:30368668 PMID:30442762 PMID:30442766 PMID:30481304 PMID:30664951 PMID:30859559 PMID:31128261 PMID:31182298 PMID:31219622 PMID:31438995 PMID:31825158 NCBI chr11:87,381,638...87,397,849
Ensembl chr11:87,381,899...87,397,498
JBrowse link
G Nf2 neurofibromin 2 ISO ClinVar Annotator: match by term: Schwannomatosis 1
ClinVar Annotator: match by OMIM:162091
OMIM
ClinVar
PMID:7798645 PMID:9399891 PMID:25741868 NCBI chr14:84,996,905...85,088,547
Ensembl chr14:84,996,905...85,088,523
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 OMIM:162091
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SCHWANNOMATOSIS 1, SOMATIC
OMIM
ClinVar
CTD
PMID:17357086 PMID:18285426 PMID:18414213 PMID:18647326 PMID:19124645 PMID:19582488 PMID:20930055 PMID:22038540 PMID:22434358 PMID:22949514 PMID:24362817 PMID:24728327 PMID:24933152 PMID:25741868 PMID:26073604 PMID:28492532 PMID:29517885 NCBI chr20:13,679,955...13,702,821
Ensembl chr20:13,680,716...13,704,931
JBrowse link
Neurocutaneous Melanosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: NEUROMELANOSIS
ClinVar Annotator: match by term: Neurocutaneous melanosis
OMIM
ClinVar
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:15899789 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19880792 PMID:20130576 PMID:20179705 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
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 chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425
Ensembl chr 1:259,641,676...259,674,425
JBrowse link
G Mre11 MRE11 homolog, double strand break repair nuclease ISO DNA:missense mutation:cds:W210C (human) RGD PMID:15574463 RGD:2317722 NCBI chr 8:13,304,355...13,350,329
Ensembl chr 8:13,305,152...13,352,489
JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31570889 NCBI chr 8:117,082,440...117,116,244
Ensembl chr 8:117,106,576...117,116,167
JBrowse link
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: multiple neurofibromas
CTD
ClinVar
PMID:1568247 PMID:7581973 PMID:7981679 PMID:8264648 PMID:9003501 PMID:9219873 PMID:9536098 PMID:10607834 PMID:10712197 PMID:10726756 PMID:10862084 PMID:11857752 PMID:12095621 PMID:14722917 PMID:15146469 PMID:15846561 PMID:16380919 PMID:16513807 PMID:16786508 PMID:16835897 PMID:16944272 PMID:17406642 PMID:17576681 PMID:18546366 PMID:19142971 PMID:19845691 PMID:21278392 PMID:21949590 PMID:22155606 PMID:22190595 PMID:22807134 PMID:23244495 PMID:23404336 PMID:23656349 PMID:24033266 PMID:24789688 PMID:25325900 PMID:25741868 PMID:26056819 PMID:26467025 PMID:26478990 PMID:26840085 PMID:26969325 PMID:27322474 PMID:27716896 PMID:27838393 PMID:28008555 PMID:28492532 PMID:29290338 PMID:29415745 PMID:29673180 PMID:31595648 PMID:32107864 PMID:32126153 PMID:32581362 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Nf2 neurofibromin 2 ISS OMIM:101000 | OMIM:162200 | OMIM:162210 | OMIM:162260 | OMIM:162270 MouseDO NCBI chr14:84,996,905...85,088,547
Ensembl chr14:84,996,905...85,088,523
JBrowse link
neurofibromatosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bglap bone gamma-carboxyglutamate protein ISO protein:decreased expression:blood RGD PMID:22120694 RGD:6483542 NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
JBrowse link
G Evi2a ecotropic viral integration site 2A ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:8116612 PMID:8931693 PMID:9643287 PMID:10587576 PMID:10607834 PMID:10631140 PMID:10980545 PMID:12807981 PMID:15257518 PMID:16283621 PMID:18183042 PMID:22241097 PMID:22837079 PMID:24033266 PMID:24232412 PMID:24357598 PMID:25205021 PMID:25480383 PMID:25541118 PMID:25631097 PMID:25741868 PMID:26178382 PMID:26189818 PMID:26458495 PMID:26740943 PMID:27629806 PMID:28492532 NCBI chr10:66,870,048...66,873,948
Ensembl chr10:66,870,067...66,873,948
JBrowse link
G Evi2b ecotropic viral integration site 2B ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:8116612 PMID:8931693 PMID:9643287 PMID:10587576 PMID:10607834 PMID:10631140 PMID:10980545 PMID:12807981 PMID:15257518 PMID:16283621 PMID:18183042 PMID:22241097 PMID:22837079 PMID:24033266 PMID:24232412 PMID:24357598 PMID:25205021 PMID:25480383 PMID:25541118 PMID:25631097 PMID:25741868 PMID:26178382 PMID:26189818 PMID:26458495 PMID:26740943 PMID:27629806 PMID:28492532 NCBI chr10:66,856,980...66,858,598
Ensembl chr10:66,856,980...66,858,598
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1
ClinVar Annotator: match by term: Von Recklinghausen disease
ClinVar Annotator: match by term: Neurofibromatosis, familial spinal
ClinVar Annotator: match by term: NEUROFIBROMATOSIS, PERIPHERAL TYPE
ClinVar Annotator: match by OMIM:162200
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:190611 PMID:1071297 PMID:1287981 PMID:1302608 PMID:1483690 PMID:1568246 PMID:1568247 PMID:1587809 PMID:1719426 PMID:1745350 PMID:1757093 PMID:1783401 PMID:1937470 PMID:2114220 PMID:2948975 PMID:4633999 PMID:7311297 PMID:7581973 PMID:7586657 PMID:7607663 PMID:7633431 PMID:7649559 PMID:7655472 PMID:7874161 PMID:7903661 PMID:7904209 PMID:7981679 PMID:7981692 PMID:8069310 PMID:8116612 PMID:8242079 PMID:8264648 PMID:8385067 PMID:8437860 PMID:8544190 PMID:8628317 PMID:8664912 PMID:8807336 PMID:8829638 PMID:8834249 PMID:8837715 PMID:8845843 PMID:8931693 PMID:8957181 PMID:9003501 PMID:9042399 PMID:9101300 PMID:9109662 PMID:9132486 PMID:9150739 PMID:9177273 PMID:9180088 PMID:9195229 PMID:9219684 PMID:9219873 PMID:9298829 PMID:9302992 PMID:9385374 PMID:9452037 PMID:9463322 PMID:9475595 PMID:9529361 PMID:9536098 PMID:9544853 PMID:9545275 PMID:9639526 PMID:9643287 PMID:9654211 PMID:9668168 PMID:9687500 PMID:9691142 PMID:9783703 PMID:10076878 PMID:10090487 PMID:10336779 PMID:10451518 PMID:10494088 PMID:10543400 PMID:10587576 PMID:10607834 PMID:10631140 PMID:10633134 PMID:10677298 PMID:10678181 PMID:10712197 PMID:10721668 PMID:10726756 PMID:10862084 PMID:10874316 PMID:10980545 PMID:11115850 PMID:11137998 PMID:11258625 PMID:11292340 PMID:11409870 PMID:11431704 PMID:11459867 PMID:11476066 PMID:11704931 PMID:11726231 PMID:11735023 PMID:11857752 PMID:12095621 PMID:12112660 PMID:12403553 PMID:12438263 PMID:12483293 PMID:12522551 PMID:12552569 PMID:12566521 PMID:12624144 PMID:12687660 PMID:12746402 PMID:12787671 PMID:12807981 PMID:12808981 PMID:12822827 PMID:12872266 PMID:14513407 PMID:14517963 PMID:14569132 PMID:14605872 PMID:14635100 PMID:14722917 PMID:15060124 PMID:15146469 PMID:15257518 PMID:15338462 PMID:15520408 PMID:15523626 PMID:15523642 PMID:15627836 PMID:15833774 PMID:15846561 PMID:15863657 PMID:15948193 PMID:16005615 PMID:16138229 PMID:16199547 PMID:16283621 PMID:16380919 PMID:16461335 PMID:16479075 PMID:16513807 PMID:16542390 PMID:16544997 PMID:16740526 PMID:16773574 PMID:16786508 PMID:16835897 PMID:16870183 PMID:16941471 PMID:16944272 PMID:16961930 PMID:17103458 PMID:17114577 PMID:17160901 PMID:17209131 PMID:17295913 PMID:17311297 PMID:17406642 PMID:17426081 PMID:17514731 PMID:17551851 PMID:17576681 PMID:17712740 PMID:17726231 PMID:17889038 PMID:17914445 PMID:17960768 PMID:18000842 PMID:18041031 PMID:18055911 PMID:18183042 PMID:18183640 PMID:18196300 PMID:18484666 PMID:18503770 PMID:18546366 PMID:18800150 PMID:19061981 PMID:19076627 PMID:19120036 PMID:19142971 PMID:19221814 PMID:19241459 PMID:19292874 PMID:19449407 PMID:19665063 PMID:19738042 PMID:19763152 PMID:19785027 PMID:19845691 PMID:20186797 PMID:20301288 PMID:20307669 PMID:20358387 PMID:20602485 PMID:20605257 PMID:20844836 PMID:21031597 PMID:21089070 PMID:21271658 PMID:21278392 PMID:21280148 PMID:21354044 PMID:21362601 PMID:21394830 PMID:21501659 PMID:21512413 PMID:21520333 PMID:21532985 PMID:21567923 PMID:21618341 PMID:21732117 PMID:21822264 PMID:21838856 PMID:22034633 PMID:22090377 PMID:22105171 PMID:22108604 PMID:22155606 PMID:22159552 PMID:22190595 PMID:22207399 PMID:22222937 PMID:22241097 PMID:22406018 PMID:22608206 PMID:22617876 PMID:22664660 PMID:22703879 PMID:22807134 PMID:22837079 PMID:22911296 PMID:22925204 PMID:22962301 PMID:22965773 PMID:23010473 PMID:23047742 PMID:23222849 PMID:23244495 PMID:23322702 PMID:23404336 PMID:23407919 PMID:23460398 PMID:23583981 PMID:23621909 PMID:23624750 PMID:23656349 PMID:23668869 PMID:23758643 PMID:23812910 PMID:23832011 PMID:23906300 PMID:23913538 PMID:23954459 PMID:23999528 PMID:24033266 PMID:24218100 PMID:24232412 PMID:24357598 PMID:24413922 PMID:24448499 PMID:24586880 PMID:24676943 PMID:24694336 PMID:24710307 PMID:24711935 PMID:24728327 PMID:24789688 PMID:24803665 PMID:24922668 PMID:24932921 PMID:24951259 PMID:25074460 PMID:25156439 PMID:25205021 PMID:25211147 PMID:25240281 PMID:25293717 PMID:25324867 PMID:25325900 PMID:25326635 PMID:25326637 PMID:25356970 PMID:25370043 PMID:25403449 PMID:25480383 PMID:25525159 PMID:25541118 PMID:25612910 PMID:25624686 PMID:25631097 PMID:25640679 PMID:25741868 PMID:25788518 PMID:25810463 PMID:25966637 PMID:26000329 PMID:26056819 PMID:26076063 PMID:26155992 PMID:26178382 PMID:26189818 PMID:26230854 PMID:26331193 PMID:26345759 PMID:26380986 PMID:26458495 PMID:26467025 PMID:26478990 PMID:26489445 PMID:26509978 PMID:26510091 PMID:26514327 PMID:26580448 PMID:26635368 PMID:26659639 PMID:26706011 PMID:26740943 PMID:26758488 PMID:26840085 PMID:26908603 PMID:26962827 PMID:26969325 PMID:26973730 PMID:27069254 PMID:27074763 PMID:27171602 PMID:27234610 PMID:27322474 PMID:27482814 PMID:27617404 PMID:27629806 PMID:27716896 PMID:27791021 PMID:27793025 PMID:27838393 PMID:27862945 PMID:27884168 PMID:27959697 PMID:27980226 PMID:27986441 PMID:27999334 PMID:28008555 PMID:28068329 PMID:28130400 PMID:28152038 PMID:28166811 PMID:28422438 PMID:28492532 PMID:28529006 PMID:28706617 PMID:28873162 PMID:28891274 PMID:28924536 PMID:28955729 PMID:28961165 PMID:28976792 PMID:29082380 PMID:29089047 PMID:29100083 PMID:29290338 PMID:29415745 PMID:29449315 PMID:29470806 PMID:29471550 PMID:29483232 PMID:29489754 PMID:29498099 PMID:29522274 PMID:29566708 PMID:29618358 PMID:29620724 PMID:29673180 PMID:29685074 PMID:29872168 PMID:29914388 PMID:29952103 PMID:29957862 PMID:30001348 PMID:30014477 PMID:30046999 PMID:30087692 PMID:30093976 PMID:30124220 PMID:30190611 PMID:30262796 PMID:30287823 PMID:30290804 PMID:30291346 PMID:30308447 PMID:30530636 PMID:31159747 PMID:31301733 PMID:31347283 PMID:31370276 PMID:31397088 PMID:31443423 PMID:31533651 PMID:31533797 PMID:31573083 PMID:31595648 PMID:31717729 PMID:31730495 PMID:31766501 PMID:31882575 PMID:32107864 PMID:32126153 PMID:32566746 PMID:32573669 PMID:32581362 PMID:32860008 PMID:125305868, PMID:10591653, PMID:2134734 RGD:1302540, RGD:1580933 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Omg oligodendrocyte-myelin glycoprotein ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:8116612 PMID:8931693 PMID:9643287 PMID:10587576 PMID:10607834 PMID:10631140 PMID:10980545 PMID:12807981 PMID:15257518 PMID:16283621 PMID:18183042 PMID:22241097 PMID:22837079 PMID:24033266 PMID:24232412 PMID:24357598 PMID:25205021 PMID:25480383 PMID:25541118 PMID:25631097 PMID:26178382 PMID:26189818 PMID:26458495 PMID:26740943 PMID:27629806 PMID:28492532 NCBI chr10:66,845,654...66,848,388
Ensembl chr10:66,845,654...66,848,388
JBrowse link
G Spred1 sprouty-related, EVH1 domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17704776 NCBI chr 3:108,795,337...108,861,650
Ensembl chr 3:108,795,235...108,857,556
JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA,protein:increased expression:dermis RGD PMID:12930297 RGD:8547970 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
neurofibromatosis 2 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: Neurofibromatosis, type 2
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:101000
OMIM
ClinVar
CTD
PMID:4000972 PMID:7535084 PMID:7666400 PMID:7711726 PMID:7759081 PMID:7868131 PMID:7913580 PMID:7951231 PMID:8012353 PMID:8081368 PMID:8230593 PMID:8379998 PMID:8566958 PMID:8751853 PMID:8755919 PMID:8757035 PMID:8797533 PMID:8882871 PMID:8889506 PMID:9466988 PMID:9536098 PMID:9643284 PMID:9718334 PMID:9817921 PMID:9817927 PMID:9884492 PMID:9931334 PMID:10691417 PMID:10712203 PMID:10777666 PMID:11085592 PMID:11535133 PMID:11668501 PMID:11756419 PMID:11779178 PMID:11809806 PMID:12118253 PMID:12136076 PMID:12566519 PMID:12695331 PMID:12807969 PMID:15598747 PMID:15635074 PMID:15645494 PMID:15684865 PMID:15692946 PMID:16532029 PMID:16983642 PMID:17576681 PMID:18033041 PMID:18173316 PMID:18670066 PMID:18766994 PMID:19451225 PMID:19968670 PMID:20553997 PMID:20831745 PMID:21671232 PMID:22012890 PMID:22081132 PMID:22295085 PMID:22325036 PMID:22703879 PMID:22711605 PMID:23348505 PMID:24030433 PMID:24033266 PMID:24309211 PMID:24595234 PMID:24728327 PMID:24815379 PMID:25326635 PMID:25525159 PMID:25567352 PMID:25741868 PMID:25798586 PMID:25931164 PMID:26031996 PMID:26045165 PMID:26066488 PMID:26073919 PMID:26332594 PMID:26343386 PMID:26407091 PMID:26467025 PMID:27128293 PMID:27704245 PMID:28492532 PMID:29409008 PMID:29489754 PMID:30594554 PMID:31089872 PMID:31273341 PMID:31370276 NCBI chr14:84,996,905...85,088,547
Ensembl chr14:84,996,905...85,088,523
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:20406973, PMID:19587327 RGD:8547955, RGD:8547957 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
Neurofibromatosis, Familial Spinal 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
ClinVar Annotator: match by OMIM:162210
OMIM
ClinVar
PMID:1568247 PMID:1745350 PMID:1757093 PMID:1783401 PMID:2114220 PMID:7607663 PMID:7649559 PMID:7655472 PMID:7874161 PMID:7903661 PMID:7981692 PMID:8069310 PMID:8264648 PMID:8385067 PMID:8544190 PMID:8845843 PMID:9003501 PMID:9109662 PMID:9132486 PMID:9150739 PMID:9219684 PMID:9219873 PMID:9302992 PMID:9385374 PMID:9463322 PMID:9475595 PMID:9529361 PMID:9536098 PMID:9545275 PMID:9654211 PMID:9668168 PMID:9687500 PMID:9691142 PMID:10076878 PMID:10090487 PMID:10494088 PMID:10543400 PMID:10607834 PMID:10678181 PMID:10712197 PMID:10721668 PMID:10726756 PMID:10862084 PMID:10980545 PMID:11137998 PMID:11409870 PMID:11704931 PMID:11857752 PMID:12095621 PMID:12112660 PMID:12522551 PMID:12552569 PMID:12807981 PMID:14569132 PMID:14722917 PMID:15060124 PMID:15146469 PMID:15863657 PMID:16138229 PMID:16199547 PMID:16380919 PMID:16479075 PMID:16513807 PMID:16544997 PMID:16773574 PMID:16786508 PMID:16835897 PMID:16870183 PMID:16944272 PMID:16961930 PMID:17311297 PMID:17576681 PMID:17726231 PMID:18041031 PMID:18183640 PMID:18484666 PMID:18546366 PMID:19120036 PMID:19142971 PMID:19221814 PMID:19292874 PMID:21271658 PMID:21354044 PMID:21520333 PMID:22108604 PMID:22155606 PMID:22207399 PMID:22703879 PMID:22807134 PMID:22925204 PMID:22962301 PMID:23047742 PMID:23244495 PMID:23460398 PMID:23656349 PMID:23668869 PMID:23758643 PMID:23913538 PMID:24033266 PMID:24218100 PMID:24232412 PMID:24357598 PMID:24694336 PMID:24728327 PMID:24789688 PMID:24803665 PMID:24922668 PMID:24932921 PMID:24951259 PMID:25074460 PMID:25325900 PMID:25326637 PMID:25370043 PMID:25403449 PMID:25541118 PMID:25741868 PMID:25810463 PMID:25966637 PMID:26000329 PMID:26056819 PMID:26155992 PMID:26178382 PMID:26467025 PMID:26489445 PMID:26510091 PMID:26635368 PMID:26706011 PMID:26740943 PMID:26758488 PMID:26840085 PMID:26962827 PMID:27069254 PMID:27322474 PMID:27716896 PMID:27793025 PMID:27838393 PMID:28166811 PMID:28492532 PMID:28873162 PMID:28891274 PMID:28976792 PMID:29290338 PMID:29415745 PMID:29483232 PMID:29522274 PMID:29673180 PMID:29872168 PMID:30014477 PMID:30287823 PMID:30290804 PMID:30308447 PMID:31159747 PMID:31533797 PMID:31595648 PMID:31730495 PMID:32107864 PMID:32126153 PMID:32566746 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
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 chr 7:11,458,971...11,478,520
Ensembl chr 7:11,458,967...11,478,489
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome
ClinVar Annotator: match by term: Neurofibromatosis with Noonan phenotype
ClinVar Annotator: match by OMIM:601321
OMIM
ClinVar
PMID:190611 PMID:1568246 PMID:1568247 PMID:7586657 PMID:7904209 PMID:8264648 PMID:9003501 PMID:9150739 PMID:9219873 PMID:9475595 PMID:9536098 PMID:9654211 PMID:9691142 PMID:9783703 PMID:10090487 PMID:10607834 PMID:10678181 PMID:10712197 PMID:10726756 PMID:10862084 PMID:10980545 PMID:11857752 PMID:12095621 PMID:12522551 PMID:12552569 PMID:12707950 PMID:12807981 PMID:14569132 PMID:14722917 PMID:15060124 PMID:15146469 PMID:15863657 PMID:16138229 PMID:16199547 PMID:16380919 PMID:16513807 PMID:16542390 PMID:16786508 PMID:16944272 PMID:16961930 PMID:17160901 PMID:17576681 PMID:17726231 PMID:18041031 PMID:18484666 PMID:18546366 PMID:19142971 PMID:19845691 PMID:20602485 PMID:21354044 PMID:21520333 PMID:21532985 PMID:22155606 PMID:22703879 PMID:22807134 PMID:22962301 PMID:23047742 PMID:23244495 PMID:23460398 PMID:23656349 PMID:23668869 PMID:23758643 PMID:23913538 PMID:24033266 PMID:24218100 PMID:24728327 PMID:24789688 PMID:24932921 PMID:25074460 PMID:25325900 PMID:25403449 PMID:25541118 PMID:25741868 PMID:26000329 PMID:26056819 PMID:26155992 PMID:26467025 PMID:26489445 PMID:26510091 PMID:26740943 PMID:26840085 PMID:27069254 PMID:27322474 PMID:27716896 PMID:27793025 PMID:28166811 PMID:28492532 PMID:28873162 PMID:28976792 PMID:29290338 PMID:29415745 PMID:29483232 PMID:29673180 PMID:29872168 PMID:30190611 PMID:30287823 PMID:30308447 PMID:31159747 PMID:31595648 PMID:32107864 PMID:32566746 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:28492532 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Spred1 sprouty-related, EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:28492532 NCBI chr 3:108,795,337...108,861,650
Ensembl chr 3:108,795,235...108,857,556
JBrowse link
nonsyndromic aplasia cutis congenita 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 nonsyndromic ClinVar PMID:25741868 NCBI chr 2:189,045,551...189,085,448
Ensembl chr 2:189,062,443...189,083,236
JBrowse link
G Bms1 BMS1 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Aplasia cutis congenita nonsyndromic OMIM
ClinVar
PMID:23785305 NCBI chr 4:150,433,567...150,471,783
Ensembl chr 4:150,433,570...150,471,834
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: Oculoectodermal syndrome ClinVar PMID:26820066 NCBI chr10:11,847,058...11,878,792
Ensembl chr10:11,847,102...11,878,792
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Oculoectodermal syndrome
ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome
ClinVar Annotator: match by term: OCULOECTODERMAL SYNDROME, SOMATIC
ClinVar
OMIM
PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:8456858 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17332249 PMID:17384584 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:20921462 PMID:20921465 PMID:20978259 PMID:21063026 PMID:21228335 PMID:21398618 PMID:21975775 PMID:22392911 PMID:22407852 PMID:22571758 PMID:22734028 PMID:23182985 PMID:23406027 PMID:24033266 PMID:24558511 PMID:24720724 PMID:24740626 PMID:24836576 PMID:25157968 PMID:25251940 PMID:25705018 PMID:25741868 PMID:25808193 PMID:26623049 PMID:26970110 PMID:30891959 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Nlrp5 NLR family, pyrin domain containing 5 ISO ClinVar Annotator: match by term: Oculoectodermal syndrome
ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome
ClinVar PMID:20738330 PMID:26323243 NCBI chr 1:71,452,184...71,490,915
Ensembl chr 1:71,453,798...71,486,790
JBrowse link
Odontoonychodermal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Odontoonychodermal dysplasia
ClinVar Annotator: match by OMIM:257980
OMIM
ClinVar
PMID:16199547 PMID:17847007 PMID:19471313 PMID:19559398 PMID:20163410 PMID:20979233 PMID:21143469 PMID:21484994 PMID:21834823 PMID:22581971 PMID:22670871 PMID:23167694 PMID:23401279 PMID:23991204 PMID:24033266 PMID:24043634 PMID:24311251 PMID:24312213 PMID:24398796 PMID:24449199 PMID:24458874 PMID:24700731 PMID:24702986 PMID:24902757 PMID:25356970 PMID:25545742 PMID:25629078 PMID:25741868 PMID:26087098 PMID:26964878 PMID:27881089 PMID:28105635 PMID:28166811 PMID:28492532 PMID:28589954 PMID:28813618 PMID:28976000 PMID:28981473 PMID:29364747 PMID:30426266 PMID:30569517 PMID:30974434 NCBI chr 9:82,053,581...82,066,047
Ensembl chr 9:82,053,581...82,066,047
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:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812
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: Ohdo syndrome, X-linked
ClinVar Annotator: match by term: BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNER TYPE
DNA:missense mutations:cds:c.3443G>A (p.R1148H),c.3493T>C (p.S1165P),c.5185C>A (p.H1729N)(human)
ClinVar Annotator: match by OMIM:300895
OMIM
ClinVar
PMID:8279489 PMID:10405444 PMID:16700052 PMID:17334363 PMID:18691967 PMID:18805826 PMID:18973276 PMID:19938245 PMID:20981778 PMID:23091001 PMID:23395478 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26350204 PMID:28369444 PMID:32715471, PMID:23395478 RGD:12910951 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812
JBrowse link
orofacial cleft 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by null ClinVar PMID:10932188 PMID:11559849 NCBI chr 8:48,094,233...48,198,499
Ensembl chr 8:48,094,673...48,157,305
JBrowse link
pachyonychia congenita term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt16 keratin 16 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:88,149,210...88,152,167
Ensembl chr10:88,149,345...88,152,064
JBrowse link
G Krt17 keratin 17 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pachyonychia congenita syndrome
CTD
ClinVar
PMID:2248894 PMID:7529318 PMID:9008238 PMID:9767294 PMID:25741868 NCBI chr10:88,158,993...88,163,712
Ensembl chr10:88,118,001...88,163,723
JBrowse link
G Krt6a keratin 6A ISO CTD Direct Evidence: marker/mechanism CTD
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
ClinVar Annotator: match by term: Pachyonychia congenita, type 1
OMIM
ClinVar
PMID:8595410 PMID:10606845 PMID:10839714 PMID:11359398 PMID:11886499 PMID:16250206 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr10:88,149,210...88,152,167
Ensembl chr10:88,149,345...88,152,064
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
ClinVar Annotator: match by term: Pachyonychia congenita type 2
OMIM
ClinVar
PMID:2248894 PMID:3954955 PMID:7529318 PMID:9008238 PMID:9767294 PMID:10571744 PMID:11348474 PMID:11874497 PMID:11886499 PMID:25741868 NCBI chr10:88,158,993...88,163,712
Ensembl chr10:88,118,001...88,163,723
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:22668561 PMID:24611874 PMID:25741868
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:25168385 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
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: Papillon-Lefevre Disease
ClinVar Annotator: match by term: Papillon-Lefèvre syndrome
ClinVar Annotator: match by OMIM:245000
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:10581027 PMID:10593994 PMID:10662807 PMID:10662808 PMID:11180012 PMID:11180601 PMID:11886537 PMID:12112662 PMID:14974080 PMID:16008657 PMID:18809751 PMID:23108224 PMID:23311634 PMID:24033266 PMID:24936511 PMID:25741868 PMID:28242153 PMID:28492532 PMID:29410039, PMID:10593994 RGD:1599638 NCBI chr 1:151,918,514...151,949,979
Ensembl chr 1:151,918,571...151,949,983
JBrowse link
PHACE Association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: PHACES association ClinVar PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 PMID:16825433 PMID:17551924 PMID:18039235 PMID:18413255 PMID:19206169 PMID:23875798 PMID:24033266 PMID:24283439 PMID:31474318 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
photosensitive trichothiodystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive
ClinVar Annotator: match by OMIM:601675
OMIM
ClinVar
PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9195225 PMID:9238033 PMID:9758621 PMID:11242112 PMID:11709541 PMID:20944642 PMID:22234153 PMID:23221806 PMID:23232694 PMID:24728327 PMID:25620205 PMID:25716912 PMID:25741868 PMID:27085493 PMID:28492532 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Gtf2h5 general transcription factor IIH subunit 5 ISO RGD PMID:22824526 RGD:7246919 NCBI chr 1:46,978,345...46,985,032
Ensembl chr 1:46,978,458...46,985,032
JBrowse link
G Mplkip M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chr17:49,955,060...49,990,982
Ensembl chr17:49,955,060...49,991,059
JBrowse link
Rapp-Hodgkin syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with cleft lip/palate
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:10535733 PMID:10839977 PMID:10886756 PMID:11462173 PMID:12525544 PMID:12766194 PMID:12939657 PMID:15200513 PMID:15748593 PMID:15983386 PMID:17609671 PMID:18326838 PMID:18626511 PMID:19239083 PMID:19353588 PMID:19676059 PMID:20543567 PMID:21652629 PMID:23355676 PMID:23431748 PMID:23775923 PMID:28492532 PMID:29956718 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
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 tetramerization domain containing 1 ISO ClinVar Annotator: match by term: Scalp-ear-nipple syndrome
ClinVar Annotator: match by OMIM:181270
OMIM
ClinVar
PMID:1799422 PMID:8042668 PMID:9383029 PMID:10517259 PMID:16411189 PMID:23541344 PMID:25741868 NCBI chr18:6,374,778...6,474,990
Ensembl chr18:6,374,778...6,474,990
JBrowse link
Schopf-Schulz-Passarge syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome
ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS
ClinVar Annotator: match by OMIM:224750
OMIM
ClinVar
PMID:17847007 PMID:19559398 PMID:20163410 PMID:20979233 PMID:21484994 PMID:21834823 PMID:22581971 PMID:23167694 PMID:23401279 PMID:24033266 PMID:24043634 PMID:24311251 PMID:24312213 PMID:24398796 PMID:24449199 PMID:24700731 PMID:24702986 PMID:24902757 PMID:25356970 PMID:25545742 PMID:25629078 PMID:25741868 PMID:26964878 PMID:27881089 PMID:28105635 PMID:28166811 PMID:28492532 PMID:28813618 PMID:28976000 PMID:28981473 PMID:29364747 PMID:30426266 PMID:30569517 PMID:30974434 NCBI chr 9:82,053,581...82,066,047
Ensembl chr 9:82,053,581...82,066,047
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 HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:12835555 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:17211612 PMID:17384584 PMID:17979197 PMID:18039947 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19382114 PMID:19773371 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21850009 PMID:22317973 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25695684 PMID:25741868 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 PMID:168335863 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17332249 PMID:17384584 PMID:17910045 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19029981 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19358724 PMID:19679400 PMID:19773371 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:21079152 PMID:21228335 PMID:21975775 PMID:22025163 PMID:22407852 PMID:22499344 PMID:22683711 PMID:23014527 PMID:23096712 PMID:23406027 PMID:25044103 PMID:25157968 PMID:25695684 PMID:25741868 PMID:28492532 PMID:29298116 PMID:31891627 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
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 PMID:16835863 PMID:17211612 PMID:17384584 PMID:17979197 PMID:18039947 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19382114 PMID:19773371 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21850009 PMID:22317973 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25695684 PMID:25741868 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 PMID:168335863 NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:12460918 PMID:12727991 PMID:14508525 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18948947 PMID:19075190 PMID:19880792 PMID:20130576 PMID:20179705 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22761467 PMID:22773810 PMID:23392294 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:25157968 PMID:26619011 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
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 OMIM:184500 OMIM
ClinVar
PMID:9008238 PMID:9767294 PMID:11886499 NCBI chr10:88,158,993...88,163,712
Ensembl chr10:88,118,001...88,163,723
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:25741868 PMID:28492532 NCBI chr 2:13,593,100...13,613,910
Ensembl chr 2:13,593,100...13,613,910
JBrowse link
G Fn1 fibronectin 1 ISO mRNA, protein:increased expression:cerebral cortex RGD PMID:12621118 RGD:1358624 NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078
JBrowse link
G Gnaq G protein subunit alpha q ISO ClinVar Annotator: match by term: Sturge-Weber syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:23656586 PMID:25188413 PMID:25741868 NCBI chr 1:233,382,778...233,622,584
Ensembl chr 1:233,382,708...233,622,786
JBrowse link
G Mmp2 matrix metallopeptidase 2 severity ISO protein:increased expression:urine RGD PMID:23720035 RGD:13204823 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO protein:increased expression:urine RGD PMID:23720035 RGD:13204823 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by OMIM:608355
ClinVar Annotator: match by term: Parkes Weber syndrome
ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:13,617,021...13,696,531
Ensembl chr 2:13,616,822...13,696,426
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 chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 treatment IDA RGD PMID:12384518 RGD:1549429 NCBI chr16:68,954,860...68,968,248
Ensembl chr16:68,954,875...68,968,248
JBrowse link
G Flna filamin A ISO protein:increased expression:prefrontal cortex (human) RGD PMID:25277454 RGD:11565117 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: therapeutic CTD PMID:16845661 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebral cortex RGD PMID:22459050 RGD:8547829 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Tsc1 TSC complex subunit 1 susceptibility ISO DNA:nonsense mutations, deletion: :multiple
ClinVar Annotator: match by term: Tuberous sclerosis syndrome
DNA:nonsense mutation:exon:p.R509X (c.1525C>T) (human)
DNA:deletions, duplication, point mutation:exon, intron:multiple
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tuberous sclerosis syndrome, UMLS OMIM term: TUBEROSE SCLEROSIS
ClinVar
RGD
CTD
PMID:9242607 PMID:9328481 PMID:9803264 PMID:9863590 PMID:9924605 PMID:10090883 PMID:10205261 PMID:10227394 PMID:10330349 PMID:10340649 PMID:10353610 PMID:10363127 PMID:10533066 PMID:10533067 PMID:10533069 PMID:10570911 PMID:10607950 PMID:10874311 PMID:11112665 PMID:11208653 PMID:11329144 PMID:11774213 PMID:12015165 PMID:12111193 PMID:12112044 PMID:12773163 PMID:12853839 PMID:14551205 PMID:14633685 PMID:14642745 PMID:14756965 PMID:15121797 PMID:15236319 PMID:15798777 PMID:16114042 PMID:16199547 PMID:16554133 PMID:16981987 PMID:17304050 PMID:18032745 PMID:18345974 PMID:18397877 PMID:18414213 PMID:18772611 PMID:18830229 PMID:18854862 PMID:19139070 PMID:19175396 PMID:19254590 PMID:19419980 PMID:19747374 PMID:19918125 PMID:20165957 PMID:20185476 PMID:20399389 PMID:20498439 PMID:20547222 PMID:20633017 PMID:21062901 PMID:21309039 PMID:21345208 PMID:21510812 PMID:21520333 PMID:21624971 PMID:21811971 PMID:22161988 PMID:22490766 PMID:22558107 PMID:22703879 PMID:22707517 PMID:22791573 PMID:22867869 PMID:22903760 PMID:22923433 PMID:22995991 PMID:23254740 PMID:23341583 PMID:23389244 PMID:23401075 PMID:23514105 PMID:23857276 PMID:24033266 PMID:24633152 PMID:24728327 PMID:24789117 PMID:25077650 PMID:25326635 PMID:25498131 PMID:25525159 PMID:25741868 PMID:25900779 PMID:26231267 PMID:26332594 PMID:26467025 PMID:26540169 PMID:27153395 PMID:27425891 PMID:27470532 PMID:27494029 PMID:27600092 PMID:28065512 PMID:28087349 PMID:28291513 PMID:28492532 PMID:28968464 PMID:29101226 PMID:29127155 PMID:29196670 PMID:29221145 PMID:29286531 PMID:29432982 PMID:29458892 PMID:29706646 PMID:29740858 PMID:29932062 PMID:30581017 PMID:32238909, PMID:9242607, PMID:25900779, PMID:21403402, PMID:16114042 RGD:1624196, RGD:1624196, RGD:11073512, RGD:11570511, RGD:11062248 NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis syndrome, UMLS OMIM term: TUBEROSE SCLEROSIS
ClinVar Annotator: match by term: Cortical tubers
DNA:mutations:exon, intron:multiple
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1112665 PMID:1870099 PMID:2039137 PMID:2139039 PMID:4461062 PMID:5279523 PMID:7581393 PMID:7823706 PMID:8634701 PMID:8824881 PMID:8825048 PMID:9076719 PMID:9242607 PMID:9285776 PMID:9302281 PMID:9328481 PMID:9361032 PMID:9412784 PMID:9452050 PMID:9463313 PMID:9536098 PMID:9829910 PMID:9881533 PMID:10069705 PMID:10090883 PMID:10205261 PMID:10206124 PMID:10215407 PMID:10330349 PMID:10533066 PMID:10533067 PMID:10570911 PMID:10577937 PMID:10607950 PMID:10633137 PMID:10732801 PMID:10735580 PMID:10823953 PMID:10905251 PMID:10942116 PMID:11068191 PMID:11112665 PMID:11208653 PMID:11290735 PMID:11403047 PMID:11437991 PMID:11468687 PMID:11520734 PMID:11521203 PMID:11603814 PMID:11741832 PMID:11741833 PMID:11810271 PMID:11829138 PMID:12015165 PMID:12062115 PMID:12086608 PMID:12111193 PMID:12136241 PMID:12235314 PMID:12752578 PMID:12906785 PMID:12913212 PMID:14508401 PMID:14641237 PMID:14718525 PMID:14756965 PMID:14993219 PMID:15024740 PMID:15072102 PMID:15121797 PMID:15483652 PMID:15595939 PMID:15712319 PMID:15798777 PMID:15874888 PMID:15963462 PMID:16032769 PMID:16042315 PMID:16114042 PMID:16129702 PMID:16199547 PMID:16237225 PMID:16417848 PMID:16464865 PMID:16554133 PMID:16877242 PMID:16981987 PMID:17034546 PMID:17120248 PMID:17304050 PMID:17536269 PMID:17576681 PMID:17681840 PMID:18032745 PMID:18302728 PMID:18308511 PMID:18345974 PMID:18410267 PMID:18411301 PMID:18414213 PMID:18550814 PMID:18772611 PMID:18792920 PMID:18830229 PMID:18854862 PMID:19254590 PMID:19258292 PMID:19259131 PMID:19369101 PMID:19419980 PMID:19747374 PMID:20108343 PMID:20165957 PMID:20399389 PMID:20498439 PMID:20633017 PMID:21062901 PMID:21309039 PMID:21332470 PMID:21345208 PMID:21407264 PMID:21418539 PMID:21510812 PMID:21520333 PMID:21567926 PMID:21624971 PMID:21811971 PMID:21846442 PMID:21910228 PMID:22161988 PMID:22490766 PMID:22552000 PMID:22558107 PMID:22703879 PMID:22805177 PMID:22867869 PMID:22903760 PMID:22995991 PMID:23006675 PMID:23217510 PMID:23254740 PMID:23389244 PMID:23504366 PMID:23514105 PMID:23955302 PMID:24033266 PMID:24055113 PMID:24271014 PMID:24412076 PMID:24728327 PMID:24789117 PMID:25039834 PMID:25058500 PMID:25088526 PMID:25203624 PMID:25231023 PMID:25281918 PMID:25338684 PMID:25432535 PMID:25498131 PMID:25525159 PMID:25599672 PMID:25637381 PMID:25741868 PMID:25782670 PMID:25862857 PMID:25911330 PMID:25927202 PMID:26155992 PMID:26332594 PMID:26467025 PMID:26489027 PMID:26540169 PMID:26580448 PMID:26633542 PMID:26703369 PMID:27078846 PMID:27153395 PMID:27174333 PMID:27176796 PMID:27406250 PMID:27493206 PMID:27494029 PMID:27600092 PMID:27859028 PMID:27884173 PMID:28065512 PMID:28087349 PMID:28127866 PMID:28149746 PMID:28178598 PMID:28211972 PMID:28250423 PMID:28397210 PMID:28409891 PMID:28492532 PMID:28505269 PMID:28600779 PMID:28771801 PMID:28968464 PMID:29101226 PMID:29167182 PMID:29196670 PMID:29271092 PMID:29344138 PMID:29476190 PMID:29500070 PMID:29641532 PMID:29642139 PMID:29801666 PMID:30024541 PMID:30036593 PMID:31291687 PMID:31444548 PMID:31586081 PMID:32581362 PMID:32860008, PMID:16114042, PMID:9007104 RGD:11062248, RGD:11568672 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
tuberous sclerosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 3:4,374,679...4,394,374
Ensembl chr 3:4,374,602...4,394,428
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 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
JBrowse link
G Adamtsl2 ADAMTS-like 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,624,473...5,654,890
Ensembl chr 3:5,624,506...5,654,910
JBrowse link
G Ak8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 NCBI chr 3:7,279,429...7,394,509
Ensembl chr 3:7,279,340...7,394,513
JBrowse link
G Brd3 bromodomain containing 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,995,204...6,054,467
Ensembl chr 3:5,997,315...6,054,483
JBrowse link
G Cacfd1 calcium channel flower domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,555,807...5,571,205
Ensembl chr 3:5,555,807...5,572,064
JBrowse link
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:7,134,021...7,141,522
Ensembl chr 3:7,134,021...7,141,522
JBrowse link
G Dbh dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,709,236...5,731,895
Ensembl chr 3:5,709,236...5,731,898
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 3:5,656,400...5,693,273
Ensembl chr 3:5,656,163...5,693,147
JBrowse link
G Gbgt1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:7,076,582...7,079,652 JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:7,190,721...7,203,444
Ensembl chr 3:7,190,722...7,203,420
JBrowse link
G Gtf3c5 general transcription factor IIIC subunit 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:7,144,354...7,164,678
Ensembl chr 3:7,144,250...7,164,654
JBrowse link
G Med22 mediator complex subunit 22 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,453,678...5,458,760
Ensembl chr 3:5,453,614...5,458,782
Ensembl chr 3:5,453,614...5,458,782
JBrowse link
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,608,243...5,617,689
Ensembl chr 3:5,608,243...5,617,225
JBrowse link
G Ralgds ral guanine nucleotide dissociation stimulator ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:7,090,134...7,130,548
Ensembl chr 3:7,109,920...7,130,548
JBrowse link
G Rexo4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,500,578...5,510,908
Ensembl chr 3:5,500,589...5,510,908
JBrowse link
G Rpl7a ribosomal protein L7a ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,458,985...5,461,627
Ensembl chr 3:5,459,160...5,461,583
Ensembl chr 3:5,459,160...5,461,583
JBrowse link
G Sardh sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,737,203...5,802,153
Ensembl chr 3:5,737,200...5,802,129
JBrowse link
G Slc2a6 solute carrier family 2 member 6 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,567,729...5,575,144
Ensembl chr 3:5,568,321...5,575,136
JBrowse link
G Spaca9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 NCBI chr 3:7,269,851...7,279,253
Ensembl chr 3:7,269,853...7,278,758
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 3:5,481,524...5,500,568
Ensembl chr 3:5,481,522...5,500,583
JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,461,717...5,464,560
Ensembl chr 3:4,869,795...4,872,632
JBrowse link
G Surf2 surfeit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,464,593...5,468,426
Ensembl chr 3:5,464,424...5,468,244
Ensembl chr 3:5,464,424...5,468,244
JBrowse link
G Surf4 surfeit 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,468,284...5,481,447
Ensembl chr 3:5,461,770...5,483,239
JBrowse link
G Surf6 surfeit 6 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,441,404...5,452,156
Ensembl chr 3:5,441,409...5,452,156
JBrowse link
G Tsc1 TSC complex subunit 1 treatment ISO ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar Annotator: match by term: Tuberous sclerosis syndrome, UMLS OMIM term: TUBEROSE SCLEROSIS
ClinVar Annotator: match by OMIM:191100
OMIM
ClinVar
PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 PMID:9863590 PMID:9924605 PMID:10090883 PMID:10227394 PMID:10330349 PMID:10340649 PMID:10353610 PMID:10363127 PMID:10533066 PMID:10533067 PMID:10533069 PMID:10570911 PMID:10607950 PMID:10874311 PMID:11112665 PMID:11208653 PMID:11281455 PMID:11329144 PMID:11774213 PMID:12015165 PMID:12111193 PMID:12112044 PMID:12773163 PMID:12853839 PMID:14551205 PMID:14633685 PMID:14642745 PMID:14756965 PMID:15121797 PMID:15236319 PMID:15595939 PMID:15769473 PMID:15798777 PMID:16114042 PMID:16199547 PMID:16225402 PMID:16554133 PMID:16981987 PMID:17287951 PMID:17304050 PMID:17576681 PMID:18032745 PMID:18397877 PMID:18414213 PMID:18772611 PMID:18830229 PMID:18854862 PMID:19139070 PMID:19175396 PMID:19254590 PMID:19419980 PMID:19747374 PMID:19763152 PMID:19918125 PMID:20082901 PMID:20165957 PMID:20185476 PMID:20307669 PMID:20399389 PMID:20547222 PMID:20633017 PMID:20877415 PMID:21309039 PMID:21510812 PMID:21520333 PMID:21624971 PMID:21811971 PMID:22161988 PMID:22406018 PMID:22490766 PMID:22558107 PMID:22703879 PMID:22707517 PMID:22791573 PMID:22867869 PMID:22903760 PMID:22923433 PMID:22974335 PMID:22995991 PMID:23254740 PMID:23341583 PMID:23389244 PMID:23401075 PMID:23514105 PMID:23647917 PMID:23728315 PMID:23857276 PMID:23999528 PMID:24033266 PMID:24633152 PMID:24714658 PMID:24728327 PMID:24789117 PMID:25077650 PMID:25326635 PMID:25498131 PMID:25525159 PMID:25741868 PMID:25782670 PMID:25889454 PMID:25900779 PMID:25927202 PMID:26226092 PMID:26231267 PMID:26332594 PMID:26467025 PMID:26540169 PMID:26563443 PMID:26580448 PMID:26615199 PMID:27061015 PMID:27153395 PMID:27174333 PMID:27406250 PMID:27425891 PMID:27470532 PMID:27494029 PMID:27600092 PMID:28065512 PMID:28087349 PMID:28215400 PMID:28250423 PMID:28492532 PMID:28762286 PMID:28968464 PMID:29101226 PMID:29127155 PMID:29196670 PMID:29221145 PMID:29261847 PMID:29286531 PMID:29432982 PMID:29458892 PMID:29476190 PMID:29619247 PMID:29706646 PMID:29740858 PMID:29909963 PMID:29932062 PMID:30548481 PMID:32211034 PMID:32238909, PMID:26019056 RGD:11570507 NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
G Vav2 vav guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,811,504...5,976,311
Ensembl chr 3:5,811,504...5,976,244
JBrowse link
G Wdr5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532