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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:Skin Abnormalities
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Accession:DOID:9001946 term browser browse the term
Definition:Congenital structural abnormalities of the skin.
Synonyms:exact_synonym: Skin Abnormality
 primary_id: MESH:D012868;   RDO:0000167
For additional species annotation, visit the Alliance of Genome Resources.


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Skin Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apaf1 apoptotic peptidase activating factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9753320 NCBI chr 7:31,699,309...31,784,192
Ensembl chr 7:31,699,885...31,784,192
JBrowse link
G Chuk component of inhibitor of nuclear factor kappa B kinase complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:10195895, PMID:10195896, PMID:10346820 NCBI chr 1:263,848,829...263,884,354
Ensembl chr 1:263,848,884...263,885,169
JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Skin abnormality ClinVar PMID:8755915, PMID:9881948, PMID:10408773, PMID:11781296, PMID:12485454, PMID:12787275, PMID:15888141, PMID:16971478, PMID:19681861, PMID:20598510, PMID:22266148, PMID:24033266, PMID:25741868, PMID:26076072, PMID:26148662, PMID:28492532, PMID:30311386 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17470448 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10631169 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Gorab golgin, RAB6-interacting ISO CTD Direct Evidence: marker/mechanism CTD PMID:18997784 NCBI chr13:81,682,207...81,698,827
Ensembl chr13:81,682,018...81,698,833
JBrowse link
G Hccs holocytochrome c synthase ISO microphthalmia with linear skin defects, OMIM:309801, DNA:point mutations:exon:R197X, R217C RGD PMID:17033964 RGD:1600417 NCBI chr  X:26,294,028...26,303,461
Ensembl chr  X:26,294,066...26,303,461
JBrowse link
G Hr HR, lysine demethylase and nuclear receptor corepressor ISO atrichia with papular lesions, OMIM:209500 RGD PMID:9856480 RGD:1599576 NCBI chr15:52,241,801...52,261,276
Ensembl chr15:52,241,801...52,261,276
JBrowse link
G Irf6 interferon regulatory factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17041601 NCBI chr13:111,870,121...111,889,328
Ensembl chr13:111,870,121...111,889,328
JBrowse link
G Krt1 keratin 1 ISO ClinVar Annotator: match by term: Skin abnormality ClinVar PMID:25741868 NCBI chr 7:143,448,318...143,453,544
Ensembl chr 7:143,448,318...143,453,544
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24494196 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Supv3l1 Suv3 like RNA helicase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19145458 NCBI chr20:32,057,530...32,080,170
Ensembl chr20:32,057,454...32,080,088
JBrowse link
G Tp63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10227294 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Skin abnormality ClinVar PMID:15109492, PMID:16470708, PMID:17641900, PMID:17825555, PMID:18414213, PMID:18711368, PMID:19459882, PMID:20803644, PMID:20952379, PMID:20956791, PMID:21368912, PMID:21468723, PMID:21609947, PMID:23177318, PMID:23307886, PMID:24033266, PMID:24886362, PMID:25326635, PMID:25741868, PMID:26701950, PMID:27430971, PMID:27570394, PMID:29410950, PMID:30311386 NCBI chr10:104,358,401...104,366,926
Ensembl chr10:104,359,342...104,366,926
JBrowse link
G Zfp469 zinc finger protein 469 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18452888 NCBI chr19:54,843,864...55,083,935 JBrowse link
acrodermatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl20 C-C motif chemokine ligand 20 ISO mRNA:decreased expression:skin RGD PMID:17606602 RGD:7483609 NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
JBrowse link
G Itpr3 inositol 1,4,5-trisphosphate receptor, type 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27258892 NCBI chr20:5,645,894...5,711,702
Ensembl chr20:5,646,097...5,711,702
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27258892 NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
JBrowse link
G Slc39a4 solute carrier family 39 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16714095, PMID:16819703, PMID:16889938, PMID:17190629, PMID:17202136 NCBI chr 7:117,675,718...117,682,586
Ensembl chr 7:117,675,720...117,680,004
JBrowse link
acrodermatitis enteropathica term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a4 solute carrier family 39 member 4 ISO DNA:deletions, snp, missense mutations:multiple (human)
ClinVar Annotator: match by term: Hereditary acrodermatitis enteropathica
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:201100
ClinVar
CTD
OMIM
PMID:11035780, PMID:11254458, PMID:12032886, PMID:12068297, PMID:12787121, PMID:12955721, PMID:14709598, PMID:15358787, PMID:17483098, PMID:19370757, PMID:20981092, PMID:24033266, PMID:25741868, PMID:28492532, PMID:12068297 RGD:1599005 NCBI chr 7:117,675,718...117,682,586
Ensembl chr 7:117,675,720...117,680,004
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:12955720, PMID:17159513, PMID:20301788, 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: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:23522784, PMID:23860037, PMID:25558065, PMID:25741868, PMID:28492532, PMID:29924900 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:10221902, PMID:10946361, PMID:15959515, PMID:16025100, PMID:16729972, PMID:17662764, PMID:18593716, PMID:19597493, PMID:19610107, PMID:20007775, PMID:20951801, PMID:21457232, PMID:22245843, PMID:22307742, PMID:22318994, PMID:23102684, PMID:23578328, PMID:23613382, PMID:24033266, PMID:24113472, PMID:24273032, PMID:24728327, PMID:24862819, PMID:25132448, PMID:25260786, PMID:25500235, PMID:25587027, PMID:25741868, PMID:25907466, PMID:25914885, PMID:25931334, PMID:25963545, PMID:26188975, PMID:26699486, PMID:26708639, PMID:26820064, PMID:27760138, PMID:27989580, PMID:28160419, PMID:28387797, PMID:28492532, PMID:28991257, PMID:29907982, PMID:29924900, PMID:30059548, PMID:30115950, PMID:30311386, PMID:30609409 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: ADULT syndrome
ClinVar Annotator: match by OMIM:103285
OMIM
ClinVar
PMID:8456838, PMID:8737655, PMID:9443880, PMID:11462173, PMID:11528512, PMID:11929852, PMID:16114047, PMID:16724007, PMID:16740912, PMID:17041931, PMID:17431922, PMID:18603493, PMID:18626511, PMID:19530185, PMID:19781362, PMID:20543567, PMID:21204238, PMID:25741868, PMID:27469932, PMID:28492532 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
JBrowse link
Anetoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eln elastin ISO protein:decreased expression:skin: RGD PMID:6736354 RGD:9585766 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO RGD PMID:9274625 RGD:7394827 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
Anhidrotic Ectodermal Dysplasia with T-Cell Immunodeficiency, Autosomal Dominant 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, 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: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
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, PMID:30311386 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 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 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:1953577, PMID:2491181, PMID:2557216, PMID:2798560, PMID:3338800, PMID:6504056, PMID:7792600, PMID:7836845, 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:9288106, PMID:9334731, PMID:9443866, PMID:9450874, PMID:9450906, PMID:9463314, PMID:9488043, PMID:9497252, 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:10607471, 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:15279807, 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: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: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: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: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: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:24512911, PMID:24549055, PMID:24556621, PMID:24568663, PMID:24628946, PMID:24643969, PMID:24682267, PMID:24695838, PMID:24728327, PMID:24733792, PMID:24763289, PMID:24789685, PMID:24825865, PMID:24831771, PMID:24886963, PMID:24935205, PMID:24951259, 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:25330149, PMID:25356970, PMID:25374739, PMID:25428789, PMID:25452441, PMID:25460276, PMID:25479140, PMID:25480502, PMID:25502423, PMID:25503501, PMID:25523272, PMID:25525159, PMID:25587027, PMID:25589003, PMID:25614872, PMID:25625042, 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: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: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: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:27553368, PMID:27581129, PMID:27595995, PMID:27599564, PMID:27602502, PMID:27616075, PMID:27621404, PMID:27664052, PMID:27671921, PMID:27720647, PMID:27732944, PMID:27779110, PMID:27782108, PMID:27798748, PMID:27803004, PMID:27844328, PMID:27854218, 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:28076423, PMID:28093192, PMID:28093616, PMID:28119368, PMID:28126470, PMID:28135048, PMID:28135145, PMID:28152038, PMID:28170084, PMID:28182994, PMID:28188106, PMID:28195393, PMID:28202063, PMID:28211887, PMID:28281021, PMID:28282032, PMID:28338653, PMID:28423363, PMID:28440963, 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:29059438, PMID:29101607, PMID:29141312, PMID:29271107, PMID:29335925, 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: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:30067863, PMID:30086788, PMID:30093976, PMID:30128536, PMID:30181556, PMID:30197789, PMID:30214756, PMID:30233647, PMID:30256826, PMID:30262796, PMID:30287823, PMID:30303537, PMID:30306255, PMID:30309722, PMID:30311386, 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:30584090, PMID:30607632, PMID:30620386, PMID:30651582, PMID:30666157, PMID:30713859, PMID:30713931, PMID:30723761, PMID:30730459, PMID:30814645, PMID:30819809, PMID:30883245, PMID:30927251, PMID:30938815, PMID:30982232, PMID:30995915, PMID:31050087, PMID:31054420, PMID:31118792, PMID:31125277, PMID:31139954, PMID:31159747, PMID:31160347, PMID:31173964, PMID:31227566, PMID:31263571, PMID:31341520, PMID:31360874, PMID:31428572, PMID:31666926, PMID:31742824, PMID:31815095, PMID:31843900, PMID:31867841, PMID:31871109, PMID:31919090, PMID:31920950, PMID:32183364, PMID:32325837, PMID:32488064, PMID:32566746, PMID:32860008, 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:9288106, PMID:9334731, PMID:9443866, PMID:9450874, PMID:9463314, PMID:9488043, PMID:9497252, 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: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:16958054, PMID:17001622, PMID:17124347, PMID:17132159, PMID:17166884, PMID:17298726, PMID:17333338, PMID:17344846, PMID:17376192, PMID:17393301, PMID:17517479, PMID:17540590, 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: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:24789685, PMID:24951259, 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:25330149, PMID:25374739, PMID:25428789, PMID:25452441, PMID:25460276, PMID:25479140, PMID:25480502, PMID:25502423, PMID:25503501, PMID:25523272, PMID:25525159, 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:26022348, PMID:26053404, PMID:26094658, PMID:26182300, 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:26787654, PMID:26822949, PMID:26824983, PMID:26837699, PMID:26845104, 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:28007021, PMID:28008555, PMID:28051113, PMID:28093192, PMID:28093616, 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:29141312, PMID:29335925, PMID:29360161, PMID:29368341, PMID:29371908, PMID:29415044, PMID:29470806, PMID:29478780, PMID:29522266, PMID:29555771, PMID:29566657, PMID:29596542, PMID:29600275, PMID:29664460, PMID:29667044, PMID:29678143, PMID:29684080, PMID:29719442, PMID:29752822, PMID:29753700, PMID:29888287, PMID:29909963, PMID:29922827, PMID:29945567, PMID:29946849, PMID:29954938, PMID:30067863, PMID:30086788, PMID:30128536, PMID:30197789, PMID:30214756, PMID:30256826, PMID:30287823, PMID:30303537, PMID:30311386, PMID:30363071, PMID:30374176, PMID:30426508, PMID:30447919, PMID:30504431, PMID:30549301, PMID:30607632, PMID:30620386, PMID:30723761, PMID:30730459, PMID:30814645, PMID:30819809, PMID:30927251, PMID:30982232, PMID:31054420, PMID:31118792, PMID:31125277, PMID:31139954, PMID:31159747, PMID:31160347, PMID:31341520, PMID:31843900, PMID:31919090, PMID:31920950, PMID:32183364, PMID:32566746, PMID:32860008 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:9845372, PMID:10612394, PMID:11196167, PMID:11238951, PMID:11371508, PMID:12966088, PMID:14684699, PMID:14690604, PMID:15269180, PMID:16858402, PMID:19383352, PMID:20052722, PMID:20805886, PMID:21227757, 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: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: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:28849312, PMID:28873162, PMID:29170652, PMID:29348823, PMID:29371908, PMID:29752822, PMID:29922827, PMID:30441849, 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 OMIM:615217 OMIM
ClinVar
PMID:22065524 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:7165045, PMID:10446192, PMID:18414213, PMID:20118933, PMID:22508754, PMID:23224214, PMID:24965255, PMID:25558065, PMID:25728773, PMID:25741868, PMID:26467025, PMID:27066567, PMID:27165045, PMID:27232581, PMID:28492532, 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: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: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 NCBI chr 3:124,880,698...124,884,570
Ensembl chr 3:124,880,698...124,884,570
JBrowse link
atrophoderma vermiculata term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Vermiculata atrophoderma ClinVar PMID:26142438 NCBI chr 7:70,846,313...70,927,028
Ensembl chr 7:70,846,344...70,926,903
JBrowse link
Autoinflammation with Arthritis and Dyskeratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp1a NLR family, pyrin domain containing 1A ISO ClinVar Annotator: match by term: Autoinflammation with arthritis and dyskeratosis OMIM
ClinVar
PMID:16918630, PMID:25741868, PMID:27965258 NCBI chr10:57,692,474...57,747,608
Ensembl chr10:57,692,474...57,822,498
JBrowse link
Autosomal Dominant Dyskeratosis Congenita term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Terc telomerase RNA component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:116,432,723...116,433,110
Ensembl chr 2:116,432,691...116,433,110
JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:34,358,697...34,365,085
Ensembl chr15:34,360,974...34,364,081
JBrowse link
autosomal dominant dyskeratosis congenita 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actrt3 actin-related protein T3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar NCBI chr 2:116,416,561...116,418,521
Ensembl chr 2:116,416,507...116,418,582
JBrowse link
G Inpp4a inositol polyphosphate-4-phosphatase type I A ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:15849264, PMID:21931702, PMID:25741868 NCBI chr 9:43,889,887...44,006,593
Ensembl chr 9:43,889,473...44,004,325
JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:25741868, PMID:27192671 NCBI chr 2:117,396,084...117,993,604
Ensembl chr 2:117,396,007...117,454,769
JBrowse link
G Terc telomerase RNA component ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 OMIM
ClinVar
PMID:10721988, PMID:11574891, PMID:12090986, PMID:12676774, PMID:12972604, PMID:14630445, PMID:15082312, PMID:15098033, PMID:15319288, PMID:15550482, PMID:15886322, PMID:16332973, PMID:17460043, PMID:17640862, PMID:19095616, PMID:19835419, PMID:20022961, PMID:20193600, PMID:21844345, PMID:21931702, PMID:22341970, PMID:24033266, PMID:25612863, PMID:25741868, PMID:26024875, PMID:26136524, PMID:27192671, PMID:28492532, PMID:29146883, PMID:30426156, PMID:31265491 NCBI chr 2:116,432,723...116,433,110
Ensembl chr 2:116,432,691...116,433,110
JBrowse link
G Tert telomerase reverse transcriptase ISS
ISO
OMIM:127550
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1
MouseDO
ClinVar
PMID:12167716, PMID:15885610, PMID:16247010, PMID:16627250, PMID:16990594, PMID:18042801, PMID:18635888, PMID:18931339, PMID:21602826, PMID:23901009, PMID:24033266, PMID:25365545, PMID:25562321, PMID:25741868, PMID:26329388, PMID:26360549, PMID:26887940, PMID:27418648, PMID:28154186, PMID:28492532, PMID:28813500 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Tgm1 transglutaminase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:18669893, PMID:21199492, PMID:22211879, PMID:28492532 NCBI chr15:34,378,136...34,393,150
Ensembl chr15:34,378,148...34,392,066
JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISS
ISO
OMIM:127550
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1
MouseDO
ClinVar
PMID:18252230, PMID:18669893, PMID:19090550, PMID:21199492, PMID:21536674, PMID:22211879, PMID:23094712, PMID:26859482, PMID:28492532, PMID:29742735 NCBI chr15:34,358,697...34,365,085
Ensembl chr15:34,360,974...34,364,081
JBrowse link
autosomal dominant dyskeratosis congenita 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant, 2 ClinVar
OMIM
PMID:15814878, PMID:15885610, PMID:16247010, PMID:16627250, PMID:17460043, PMID:18042801, PMID:18460650, PMID:18753630, PMID:18931339, PMID:19147845, PMID:19674077, PMID:19760749, PMID:19796246, PMID:20858879, PMID:20966039, PMID:21258621, PMID:21520173, PMID:21520174, PMID:21635204, PMID:22424236, PMID:22476886, PMID:23538340, PMID:23716176, PMID:23901009, PMID:24033266, PMID:24983628, PMID:25108601, PMID:25741868, PMID:25785092, PMID:26024875, PMID:28154186, PMID:28492532, PMID:28677271, PMID:29463756, PMID:29483670, PMID:30426156, PMID:30995915 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
autosomal dominant dyskeratosis congenita 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgm1 transglutaminase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant, 3 ClinVar PMID:18669893, PMID:21199492, PMID:22211879, PMID:28492532 NCBI chr15:34,378,136...34,393,150
Ensembl chr15:34,378,148...34,392,066
JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant, 3
ClinVar Annotator: match by OMIM:613990
OMIM
ClinVar
PMID:18252230, PMID:18669893, PMID:18979121, PMID:19090550, PMID:21199492, PMID:21477109, PMID:21536674, PMID:22211879, PMID:23094712, PMID:25741868, PMID:26193622, PMID:26859482, PMID:28492532, PMID:29483670, PMID:29742735, PMID:30311386 NCBI chr15:34,358,697...34,365,085
Ensembl chr15:34,360,974...34,364,081
JBrowse link
autosomal dominant dyskeratosis congenita 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant, 4 ClinVar PMID:23329068, PMID:25741868, PMID:27128385, PMID:28099038, PMID:28492532, PMID:28930861 NCBI chr 3:176,818,012...176,856,531
Ensembl chr 3:176,818,437...176,856,531
JBrowse link
autosomal dominant dyskeratosis congenita 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acd ACD, shelterin complex subunit and telomerase recruitment factor ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar Annotator: match by term: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6
OMIM
ClinVar
PMID:25205116, PMID:25233904, PMID:25505254, PMID:25741868, PMID:28492532, PMID:31515401 NCBI chr19:37,665,289...37,668,043
Ensembl chr19:37,665,296...37,667,987
JBrowse link
autosomal dominant dystrophic epidermolysis bullosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal dominant
ClinVar Annotator: match by OMIM:131750
OMIM
ClinVar
PMID:1680286, PMID:2653224, PMID:7577595, PMID:7861014, PMID:8170945, PMID:8288900, PMID:8755915, PMID:9347800, PMID:9668111, PMID:9856844, PMID:9892921, PMID:10084325, PMID:10408773, PMID:10469344, PMID:11781296, PMID:11874498, PMID:12485454, PMID:12787275, PMID:15888141, PMID:16557343, PMID:16965329, PMID:16971478, PMID:19681861, PMID:20598510, PMID:22266148, PMID:24033266, PMID:24794830, PMID:25741868, PMID:28492532, PMID:28830826, PMID:30311386, PMID:32860008 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa ClinVar PMID:7520042, PMID:8807337, PMID:25741868, PMID:30311386 NCBI chr 7:143,320,142...143,324,536
Ensembl chr 7:143,316,920...143,453,546
JBrowse link
autosomal dominant keratitis-ichthyosis-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO p.S17F(mouse)
ClinVar Annotator: match by term: KID syndrome, autosomal dominant
ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant
ClinVar Annotator: match by term: Keratitis, Ichthyosis, and Deafness (KID) Syndrome
ClinVar Annotator: match by OMIM:148210
DNA:mutation:cds:p.D50N (human)
p.G45E(mouse)
DNA:mutation:cds:p.N14K(human)
DNA:mutations:cds:p.G11E,p.D50N(human)
ClinVar
OMIM
PMID:1218943, PMID:1693158, PMID:2706105, PMID:2956987, PMID:8789457, PMID:9139825, PMID:9285800, PMID:9328482, PMID:9336442, PMID:9393973, PMID:9422505, PMID:9471561, PMID:9482292, PMID:9529365, PMID:9600457, PMID:9620796, PMID:9710598, PMID:9716127, PMID:9819448, PMID:10049954, PMID:10204859, PMID:10218527, PMID:10369869, PMID:10376574, PMID:10422812, PMID:10477435, PMID:10501520, PMID:10508996, PMID:10544226, PMID:10556284, PMID:10596881, PMID:10607953, PMID:10633133, PMID:10633135, PMID:10713883, PMID:10751669, PMID:10757647, PMID:10782932, PMID:10807696, PMID:10830906, PMID:10874298, PMID:10903123, PMID:10905664, PMID:10980526, PMID:10982180, PMID:10982182, PMID:11073548, PMID:11074495, PMID:11134236, PMID:11216656, PMID:11313751, PMID:11313763, PMID:11386851, PMID:11439000, PMID:11483639, PMID:11493200, PMID:11494963, PMID:11551103, PMID:11556849, PMID:11587277, PMID:11668644, PMID:11698809, PMID:11746015, PMID:11788148, PMID:11807148, PMID:11896458, PMID:11912510, PMID:11918723, PMID:11935342, PMID:11968091, PMID:12072059, PMID:12081719, PMID:12121355, PMID:12167443, PMID:12172392, PMID:12172394, PMID:12176036, PMID:12176179, PMID:12189487, PMID:12189493, PMID:12239718, PMID:12325027, PMID:12384501, PMID:12417772, PMID:12457154, PMID:12497637, PMID:12505163, PMID:12522556, PMID:12548749, PMID:12560944, PMID:12562518, PMID:12684873, PMID:12746422, PMID:12752120, PMID:12786758, PMID:12786762, PMID:12791041, PMID:12792423, PMID:12833397, PMID:12865758, PMID:12910486, PMID:12925341, PMID:14070830, PMID:14520102, PMID:14691997, PMID:14694360, PMID:14700667, PMID:14722929, PMID:14735592, PMID:14738110, PMID:14985372, PMID:14986832, PMID:15033936, PMID:15040442, PMID:15070423, PMID:15113126, PMID:15146474, PMID:15219044, PMID:15235031, PMID:15241677, PMID:15253766, PMID:15359540, PMID:15365987, PMID:15464305, PMID:15479191, PMID:15482471, PMID:15488970, PMID:15617546, PMID:15617550, PMID:15633193, PMID:15656949, PMID:15666300, PMID:15700112, PMID:15769851, PMID:15855033, PMID:15954104, PMID:15964725, PMID:15967879, PMID:16076412, PMID:16077952, PMID:16088916, PMID:16125251, PMID:16217030, PMID:16222667, PMID:16300957, PMID:16336662, PMID:16379178, PMID:16379542, PMID:16380907, PMID:16532460, PMID:16650079, PMID:16712961, PMID:16773579, PMID:16840571, PMID:16849369, PMID:16864573, PMID:16868655, PMID:16885744, PMID:16950989, PMID:16952406, PMID:17018967, PMID:17036313, PMID:17041943, PMID:17146393, PMID:17146396, PMID:17253936, PMID:17330861, PMID:17331080, PMID:17357124, PMID:17406097, PMID:17426645, PMID:17428550, PMID:17428836, PMID:17485979, PMID:17553572, PMID:17581693, PMID:17661817, PMID:17666888, PMID:17935238, PMID:17993581, PMID:18024254, PMID:18294064, PMID:18414213, PMID:18560174, PMID:18570691, PMID:18684989, PMID:18776652, PMID:18804553, PMID:18843290, PMID:18925674, PMID:18941476, PMID:18983339, PMID:18985073, PMID:18987669, PMID:18988928, PMID:19027181, PMID:19043807, PMID:19125024, PMID:19157576, PMID:19173109, PMID:19235794, PMID:19366456, PMID:19371219, PMID:19375528, PMID:19465004, PMID:19586875, PMID:19587431, PMID:19707039, PMID:19715472, PMID:19723508, PMID:19814620, PMID:19925344, PMID:19929407, PMID:19929408, PMID:19941053, PMID:20022641, PMID:20073550, PMID:20083784, PMID:20086291, PMID:20086306, PMID:20096468, PMID:20146813, PMID:20154630, PMID:20201936, PMID:20234132, PMID:20236118, PMID:20301449, PMID:20381175, PMID:20412116, PMID:20497192, PMID:20563649, PMID:20650534, PMID:20708129, PMID:20739944, PMID:20815033, PMID:20981092, PMID:21056478, PMID:21094084, PMID:21112098, PMID:21122151, PMID:21162657, PMID:21198395, PMID:21292415, PMID:21465647, PMID:21468573, PMID:21481246, PMID:21488715, PMID:21728791, PMID:21776002, PMID:21811586, PMID:21815880, PMID:21910243, PMID:21962949, PMID:22000900, PMID:22011219, PMID:22031297, PMID:22037723, PMID:22106692, PMID:22281373, PMID:22429511, PMID:22498363, PMID:22567152, PMID:22567369, PMID:22574200, PMID:22613756, PMID:22643125, PMID:22668073, PMID:22695344, PMID:22701767, PMID:22785241, PMID:22796187, PMID:22808909, PMID:22855627, PMID:22937313, PMID:22975760, PMID:22981120, PMID:22995991, PMID:23141775, PMID:23477838, PMID:23489192, PMID:23503914, PMID:23504403, PMID:23554706, PMID:23555729, PMID:23637863, PMID:23638949, PMID:23668481, PMID:23680645, PMID:23695287, PMID:23757202, PMID:23804846, PMID:23808595, PMID:23826813, PMID:23856378, PMID:23873582, PMID:23900770, PMID:23967136, PMID:24033266, PMID:24123366, PMID:24158611, PMID:24256046, PMID:24346070, PMID:24529908, PMID:24611097, PMID:24624091, PMID:24645897, PMID:24654934, PMID:24737404, PMID:24785414, PMID:24793888, PMID:24814571, PMID:24840842, PMID:24945352, PMID:24949729, PMID:24959830, PMID:25012701, PMID:25085072, PMID:25085637, PMID:25087612, PMID:25214170, PMID:25262649, PMID:25266519, PMID:25288386, PMID:25326637, PMID:25388846, PMID:25555641, PMID:25636251, PMID:25637381, PMID:25708704, PMID:25741868, PMID:25937001, PMID:25999548, PMID:26043044, PMID:26059209, PMID:26061099, PMID:26061264, PMID:26088551, PMID:26095810, PMID:26096904, PMID:26117665, PMID:26178431, PMID:26188157, PMID:26236732, PMID:26252218, PMID:26330914, PMID:26381000, PMID:26399936, PMID:26444186, PMID:26467025, PMID:26482070, PMID:26553399, PMID:26681637, PMID:26778469, PMID:26832775, PMID:26885124, PMID:26896187, PMID:26940866, PMID:26969326, PMID:27057829, PMID:27087580, PMID:27153395, PMID:27177978, PMID:27224056, PMID:27466889, PMID:27480936, PMID:27481527, PMID:27501294, PMID:27623246, PMID:27761313, PMID:27785406, PMID:27792752, PMID:27843504, PMID:27884957, PMID:28000701, PMID:28271504, PMID:28489599, PMID:28492532, PMID:29106882, PMID:29362677, PMID:29501291, PMID:29921236, PMID:30094485, PMID:30303587, PMID:30311386, PMID:30344259, PMID:30872814, PMID:30989077, PMID:31035178, PMID:31099403, PMID:31160754, PMID:31163360, PMID:32090102, PMID:115556849, PMID:163800907, PMID:20926451, PMID:23924173, PMID:22031297, PMID:18950394, PMID:20307501 RGD:7364809, RGD:7364885, RGD:7364889, RGD:7364813, RGD:7364811 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
autosomal recessive congenital ichthyosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca12 ATP binding cassette subfamily A member 12 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma ClinVar NCBI chr 9:78,521,477...78,693,421
Ensembl chr 9:78,522,464...78,693,028
JBrowse link
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma
ClinVar Annotator: match by term: Congenital nonbullous ichthyosiform erythroderma
ClinVar PMID:16116617, PMID:18347291, PMID:19131948, PMID:19890349, PMID:24033266, PMID:25741868, PMID:30311386 NCBI chr10:55,744,646...55,756,524
Ensembl chr10:55,744,588...55,756,566
JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis
ClinVar PMID:11398099, PMID:16116617, PMID:19131948, PMID:19890349, PMID:24033266, PMID:25998749, PMID:26370990, PMID:26762237, PMID:27025581 NCBI chr10:55,711,996...55,735,915
Ensembl chr10:55,712,043...55,735,911
JBrowse link
G Cyp4f39 cytochrome P450, family 4, subfamily f, polypeptide 39 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma ClinVar NCBI chr 7:14,435,024...14,514,960
Ensembl chr 7:14,441,476...14,515,212
JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO RGD PMID:12668600 RGD:2316868 NCBI chr  X:15,049,394...15,055,782
Ensembl chr  X:15,049,462...15,055,781
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO trichothiodystrophy,OMIM:601675;DNA:point mutation:exon:A725P RGD PMID:9195225 RGD:1601069 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Nipal4 NIPA-like domain containing 4 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma ClinVar NCBI chr10:31,241,394...31,258,105
Ensembl chr10:31,241,394...31,258,105
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO RGD PMID:12668600 RGD:2316868 NCBI chr  X:152,933,118...152,964,399
Ensembl chr  X:152,933,069...152,964,390
JBrowse link
G Pnpla1 patatin-like phospholipase domain containing 1 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma ClinVar PMID:3757302, PMID:24344921, PMID:28369476, PMID:28403545 NCBI chr20:6,101,061...6,143,762
Ensembl chr20:6,102,277...6,143,707
JBrowse link
G Tgm1 transglutaminase 1 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma
ClinVar Annotator: match by term: Lamellar ichthyosis
ClinVar PMID:7581379, PMID:11407995, PMID:11511296, PMID:16968736, PMID:19212342, PMID:19262603, PMID:19863506, PMID:19890349, PMID:20167857, PMID:21895619, PMID:22801880, PMID:23895935, PMID:24033266, PMID:24419105, PMID:25741868, PMID:26076875, PMID:26762237, PMID:27025581, PMID:28403434, PMID:28492532 NCBI chr15:34,378,136...34,393,150
Ensembl chr15:34,378,148...34,392,066
JBrowse link
autosomal recessive congenital ichthyosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca12 ATP binding cassette subfamily A member 12 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD PMID:16675967, PMID:12915478 RGD:1598548 NCBI chr 9:78,521,477...78,693,421
Ensembl chr 9:78,522,464...78,693,028
JBrowse link
G Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase susceptibility ISO RGD PMID:11590543 RGD:1598668 NCBI chr 8:130,973,222...131,001,448
Ensembl chr 8:130,973,201...131,001,458
JBrowse link
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO CTD Direct Evidence: marker/mechanism CTD PMID:21739938 NCBI chr10:55,744,646...55,756,524
Ensembl chr10:55,744,588...55,756,566
JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD PMID:21739938, PMID:11773004 RGD:1599073 NCBI chr10:55,711,996...55,735,915
Ensembl chr10:55,712,043...55,735,911
JBrowse link
G Sult2b1 sulfotransferase family 2B member 1 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 ClinVar PMID:28575648 NCBI chr 1:101,712,254...101,774,683
Ensembl chr 1:101,710,959...101,773,508
JBrowse link
G Tgm1 transglutaminase 1 ISO ClinVar Annotator: match by term: Lamellar ichthyosis, type 1
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1
ClinVar Annotator: match by term: COLLODION BABY, SELF-HEALING
ClinVar Annotator: match by OMIM:242300
ClinVar Annotator: match by term: Lamellar ichthyosis, UMLS MESH term: Lamellar Ichthyose
ClinVar
OMIM
PMID:7581379, PMID:7773290, PMID:7824952, PMID:9261103, PMID:9326318, PMID:9359043, PMID:9545389, PMID:9593710, PMID:9887377, PMID:10232404, PMID:10694685, PMID:10886517, PMID:10914678, PMID:11251583, PMID:11298529, PMID:11348475, PMID:11407995, PMID:11511296, PMID:12535215, PMID:12542526, PMID:14996130, PMID:16133457, PMID:16280294, PMID:16908342, PMID:16968736, PMID:16977323, PMID:17635512, PMID:18669893, PMID:18948357, PMID:19156839, PMID:19212342, PMID:19241467, PMID:19262603, PMID:19278426, PMID:19500103, PMID:19863506, PMID:19890349, PMID:20021785, PMID:20137757, PMID:20167857, PMID:20522418, PMID:20663883, PMID:21199492, PMID:21668430, PMID:21895619, PMID:22211879, PMID:22258055, PMID:22311480, PMID:22437313, PMID:22511925, PMID:22622417, PMID:22801880, PMID:22992804, PMID:23096117, PMID:23192619, PMID:23278109, PMID:23621129, PMID:23689228, PMID:23895935, PMID:24033266, PMID:24314425, PMID:24419105, PMID:24824130, PMID:25154629, PMID:25525159, PMID:25741868, PMID:25766764, PMID:25998749, PMID:26076875, PMID:26220141, PMID:26594337, PMID:26620441, PMID:26762237, PMID:26990434, PMID:27025581, PMID:27442430, PMID:28403434, PMID:28492532, PMID:30600594, PMID:30950025, PMID:7824952 RGD:1599417 NCBI chr15:34,378,136...34,393,150
Ensembl chr15:34,378,148...34,392,066
JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 ClinVar PMID:18669893, PMID:21199492, PMID:22211879, PMID:28492532 NCBI chr15:34,358,697...34,365,085
Ensembl chr15:34,360,974...34,364,081
JBrowse link
autosomal recessive congenital ichthyosis 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla1 patatin-like phospholipase domain containing 1 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 10
ClinVar Annotator: match by OMIM:615024
OMIM
ClinVar
PMID:3757302, PMID:22246504, PMID:23352160, PMID:24033266, PMID:24344921, PMID:25741868, PMID:26424960, PMID:26691440, PMID:27884173, PMID:28369476, PMID:28403545, PMID:28492532 NCBI chr20:6,101,061...6,143,762
Ensembl chr20:6,102,277...6,143,707
JBrowse link
autosomal recessive congenital ichthyosis 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G St14 ST14 transmembrane serine protease matriptase ISO ClinVar Annotator: match by term: Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis
ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 11
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9450882, PMID:12207612, PMID:17273967, PMID:18445049, PMID:18843291, PMID:29611532 NCBI chr 8:32,240,113...32,280,813
Ensembl chr 8:32,240,133...32,280,869
JBrowse link
Autosomal Recessive Congenital Ichthyosis 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casp14 caspase 14 ISO ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 12 OMIM
ClinVar
PMID:27494380, PMID:28492532 NCBI chr 7:13,938,376...13,944,286
Ensembl chr 7:13,938,302...13,945,130
JBrowse link
autosomal recessive congenital ichthyosis 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdr9c7 short chain dehydrogenase/reductase family 9C, member 7 ISO ClinVar Annotator: match by term: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 ClinVar
OMIM
PMID:25741868, PMID:28173123, PMID:28369735 NCBI chr 7:71,152,366...71,169,510
Ensembl chr 7:71,157,664...71,170,511
JBrowse link
autosomal recessive congenital ichthyosis 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sult2b1 sulfotransferase family 2B member 1 ISO ClinVar Annotator: match by term: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14 ClinVar
OMIM
PMID:17496163, PMID:25741868, PMID:28575648 NCBI chr 1:101,712,254...101,774,683
Ensembl chr 1:101,710,959...101,773,508
JBrowse link
autosomal recessive congenital ichthyosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Nonbullous congenital ichthyosiform erythroderma 1
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2
ClinVar Annotator: match by OMIM:242100
OMIM
ClinVar
PMID:11773004, PMID:16116617, PMID:17139268, PMID:18347291, PMID:18414213, PMID:19131948, PMID:19890349, PMID:20222929, PMID:24033266, PMID:25741868, PMID:26762237, PMID:28492532, PMID:30311386 NCBI chr10:55,744,646...55,756,524
Ensembl chr10:55,744,588...55,756,566
JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2
CTD
ClinVar
PMID:25741868 NCBI chr10:55,711,996...55,735,915
Ensembl chr10:55,712,043...55,735,911
JBrowse link
G Sult2b1 sulfotransferase family 2B member 1 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2
ClinVar Annotator: match by term: COLLODION BABY, SELF-HEALING
ClinVar PMID:17496163, PMID:28575648 NCBI chr 1:101,712,254...101,774,683
Ensembl chr 1:101,710,959...101,773,508
JBrowse link
autosomal recessive congenital ichthyosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3
ClinVar Annotator: match by OMIM:606545
OMIM
ClinVar
PMID:11398099, PMID:11773004, PMID:16116617, PMID:19131948, PMID:19890349, PMID:24033266, PMID:24824130, PMID:25741868, PMID:25998749, PMID:26370990, PMID:26762237, PMID:27025581, PMID:28492532 NCBI chr10:55,711,996...55,735,915
Ensembl chr10:55,712,043...55,735,911
JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3 ClinVar PMID:24824130 NCBI chr10:55,835,695...55,851,235
Ensembl chr10:55,835,695...55,851,235
JBrowse link
autosomal recessive congenital ichthyosis 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca12 ATP binding cassette subfamily A member 12 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4A
ClinVar Annotator: match by OMIM:601277
OMIM
ClinVar
PMID:8845852, PMID:10094194, PMID:12915478, PMID:19664001, PMID:25741868 NCBI chr 9:78,521,477...78,693,421
Ensembl chr 9:78,522,464...78,693,028
JBrowse link
autosomal recessive congenital ichthyosis 4B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca12 ATP binding cassette subfamily A member 12 ISO ClinVar Annotator: match by term: Ichthyosis congenita, Harlequin fetus type
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4B
ClinVar Annotator: match by OMIM:242500
OMIM
ClinVar
PMID:15756637, PMID:16902423, PMID:19664001, PMID:25741868 NCBI chr 9:78,521,477...78,693,421
Ensembl chr 9:78,522,464...78,693,028
JBrowse link
G Cst6 cystatin E/M ISS OMIM:242500 MouseDO NCBI chr 1:220,727,292...220,729,000
Ensembl chr 1:220,727,292...220,729,000
JBrowse link
G Piga phosphatidylinositol glycan anchor biosynthesis, class A ISS OMIM:242500 MouseDO NCBI chr  X:31,786,823...31,799,751
Ensembl chr  X:31,786,194...31,799,560
JBrowse link
G Prss8 serine protease 8 ISS OMIM:242500 MouseDO NCBI chr 1:199,372,519...199,377,035
Ensembl chr 1:199,372,519...199,377,035
JBrowse link
autosomal recessive congenital ichthyosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp4f39 cytochrome P450, family 4, subfamily f, polypeptide 39 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 5
ClinVar Annotator: match by term: Lamellar ichthyosis, type 3
OMIM
ClinVar
PMID:16436457, PMID:18034255, PMID:22992804, PMID:23621129, PMID:23871423, PMID:24397709, PMID:25741868, PMID:25998749, PMID:26762237, PMID:27025581, PMID:27449533, PMID:27735052, PMID:28492532, PMID:30011118 NCBI chr 7:14,435,024...14,514,960
Ensembl chr 7:14,441,476...14,515,212
JBrowse link
autosomal recessive congenital ichthyosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nipal4 NIPA-like domain containing 4 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 6
ClinVar Annotator: match by OMIM:612281
OMIM
ClinVar
PMID:15317751, PMID:17557927, PMID:20016120, PMID:20301593, PMID:22622417, PMID:24397709, PMID:25326635, PMID:25458912, PMID:25741868, PMID:26762237, PMID:28492532 NCBI chr10:31,241,394...31,258,105
Ensembl chr10:31,241,394...31,258,105
JBrowse link
autosomal recessive congenital ichthyosis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lipn lipase, family member N ISO OMIM NCBI chr 1:252,375,941...252,394,226
Ensembl chr 1:252,375,933...252,396,460
JBrowse link
autosomal recessive congenital ichthyosis 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cers3 ceramide synthase 3 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 9
ClinVar Annotator: match by OMIM:615023
OMIM
ClinVar
PMID:23549421, PMID:23754960, PMID:25741868 NCBI chr 1:127,706,618...127,781,041
Ensembl chr 1:127,648,234...127,781,017
JBrowse link
Autosomal Recessive Dyskeratosis Congenita term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar NCBI chr10:55,596,172...55,616,873
Ensembl chr10:55,596,148...55,616,889
JBrowse link
G Nhp2 NHP2 ribonucleoprotein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:34,975,701...34,979,082
Ensembl chr10:34,975,708...34,979,082
JBrowse link
G Nop10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 3:103,747,654...103,748,739
Ensembl chr 3:103,747,654...103,748,739
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar NCBI chr10:55,571,881...55,593,384
Ensembl chr10:55,571,118...55,589,978
JBrowse link
G Slc12a6 solute carrier family 12, member 6 ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar NCBI chr 3:103,752,213...103,852,686
Ensembl chr 3:103,753,238...103,852,686
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar PMID:25741868, PMID:28492532 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Wrap53 WD repeat containing, antisense to TP53 ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive
DNA:mutations:exons:
ClinVar PMID:25741868, PMID:28492532, PMID:21205863 RGD:21081678 NCBI chr10:56,169,024...56,185,800
Ensembl chr10:56,169,025...56,185,857
JBrowse link
autosomal recessive dyskeratosis congenita 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhp2 NHP2 ribonucleoprotein ISO
ISS
ClinVar Annotator: match by term: Dyskeratosis congenita autosomal recessive 1
OMIM:224230
ClinVar
MouseDO
PMID:18523010 NCBI chr10:34,975,701...34,979,082
Ensembl chr10:34,975,708...34,979,082
JBrowse link
G Nop10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Dyskeratosis congenita autosomal recessive 1 ClinVar
OMIM
PMID:17507419, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 3:103,747,654...103,748,739
Ensembl chr 3:103,747,654...103,748,739
JBrowse link
G Rmnd5b required for meiotic nuclear division 5 homolog B ISO ClinVar Annotator: match by term: Dyskeratosis congenita autosomal recessive 1 ClinVar PMID:18523010 NCBI chr10:34,979,902...34,990,985
Ensembl chr10:34,979,923...34,990,943
JBrowse link
G Slc12a6 solute carrier family 12, member 6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita autosomal recessive 1 ClinVar NCBI chr 3:103,752,213...103,852,686
Ensembl chr 3:103,753,238...103,852,686
JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Dyskeratosis congenita autosomal recessive 1 ClinVar PMID:17785587, PMID:26887940, PMID:28192371, PMID:28492532 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
autosomal recessive dyskeratosis congenita 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhp2 NHP2 ribonucleoprotein ISO ClinVar Annotator: match by OMIM:613987 ClinVar
OMIM
PMID:18523010 NCBI chr10:34,975,701...34,979,082
Ensembl chr10:34,975,708...34,979,082
JBrowse link
G Rmnd5b required for meiotic nuclear division 5 homolog B ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 2 ClinVar PMID:18523010 NCBI chr10:34,979,902...34,990,985
Ensembl chr10:34,979,923...34,990,943
JBrowse link
autosomal recessive dyskeratosis congenita 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive, 3 ClinVar PMID:17683073, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Wrap53 WD repeat containing, antisense to TP53 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive, 3
ClinVar Annotator: match by OMIM:613988
OMIM
ClinVar
PMID:17683073, PMID:21205863, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr10:56,169,024...56,185,800
Ensembl chr10:56,169,025...56,185,857
JBrowse link
autosomal recessive dyskeratosis congenita 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive, 4 ClinVar PMID:15814878, PMID:17785587, PMID:18042801, PMID:18635888, PMID:18753630, PMID:18931339, PMID:21258621, PMID:21602826, PMID:23901009, PMID:24033266, PMID:25365545, PMID:25741868, PMID:26887940, PMID:27418648, PMID:28192371, PMID:28492532 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
autosomal recessive dyskeratosis congenita 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arfrp1 ADP-ribosylation factor related protein 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive, 5 ClinVar NCBI chr 3:176,857,667...176,865,105
Ensembl chr 3:176,859,151...176,865,103
JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive, 5
ClinVar Annotator: match by OMIM:615190
OMIM
ClinVar
PMID:19461895, PMID:23329068, PMID:23453664, PMID:23591994, PMID:23829372, PMID:23959892, PMID:24009516, PMID:24033266, PMID:24582487, PMID:25047097, PMID:25099625, PMID:25182133, PMID:25607374, PMID:25620558, PMID:25741868, PMID:25848748, PMID:26022962, PMID:26025130, PMID:26136524, PMID:26808564, PMID:27128385, PMID:27415407, PMID:27418648, PMID:27540018, PMID:27824607, PMID:28099038, PMID:28188499, PMID:28192371, PMID:28492532, PMID:28507545, PMID:28930861, PMID:29344583, PMID:29361909, PMID:30523160 NCBI chr 3:176,818,012...176,856,531
Ensembl chr 3:176,818,437...176,856,531
JBrowse link
autosomal recessive dyskeratosis congenita 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Parn poly(A)-specific ribonuclease ISO ClinVar Annotator: match by term: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 6
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 6
ClinVar Annotator: match by OMIM:616353
ClinVar
OMIM
PMID:9736620, PMID:25741868, PMID:25848748, PMID:25893599, PMID:26342108, PMID:26482878, PMID:26810774, PMID:28099038, PMID:28414520, PMID:28492532, PMID:31448843 NCBI chr10:1,309,724...1,461,123
Ensembl chr10:1,308,414...1,461,269
JBrowse link
Autosomal Recessive Dyskeratosis Congenita 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acd ACD, shelterin complex subunit and telomerase recruitment factor ISO ClinVar Annotator: match by term: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 7
ClinVar PMID:25205116, PMID:25233904, PMID:28492532 NCBI chr19:37,665,289...37,668,043
Ensembl chr19:37,665,296...37,667,987
JBrowse link
Barber-Say syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twist2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Barber-Say syndrome ClinVar
OMIM
PMID:1867254, PMID:8368246, PMID:9674915, PMID:16650233, PMID:19760652, PMID:20799330, PMID:20830793, PMID:26119818 NCBI chr 9:98,924,134...98,968,510
Ensembl chr 9:98,924,134...98,968,510
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
Beare-Stevenson cutis gyrata syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Cutis Gyrata syndrome of Beare and Stevenson
ClinVar Annotator: match by term: Beare-Stevenson cutis gyrata syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:7558045, PMID:7719344, PMID:7773284, PMID:7874170, PMID:7987400, PMID:8651276, PMID:8696350, PMID:8957519, PMID:9462761, PMID:9719378, PMID:10851026, PMID:11121055, PMID:11390973, PMID:11781872, PMID:12000365, PMID:12124745, PMID:12145519, PMID:12900900, PMID:14499350, PMID:15975938, PMID:16158432, PMID:16440883, PMID:16531735, PMID:16838304, PMID:17264867, PMID:17449949, PMID:17525745, PMID:18247426, PMID:18552176, PMID:19610084, PMID:20301628, PMID:20856019, PMID:21367659, PMID:21397175, PMID:22238366, PMID:22664175, PMID:23002168, PMID:23495007, PMID:23546041, PMID:24127277, PMID:24489893, PMID:24728327, PMID:25157968, PMID:25271085, PMID:25425289, PMID:25706251, PMID:25741868, PMID:25867380, PMID:25937001, PMID:26380986, PMID:26429889, PMID:26467025, PMID:26619011, PMID:27079505, PMID:28492532, PMID:31145570 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
Blepharophimosis Syndrome Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxl2 forkhead box L2 ISO ClinVar Annotator: match by term: Blepharophimosis syndrome type 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11175783, PMID:11468277, PMID:11776388, PMID:12400065, PMID:12529855, PMID:12567411, PMID:12630957, PMID:12938087, PMID:16219626, PMID:17089161, PMID:18372316, PMID:20429427, PMID:21889601, PMID:25741868 NCBI chr 8:107,194,492...107,197,644
Ensembl chr 8:107,194,551...107,195,675
JBrowse link
Blepharophimosis Syndrome Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxl2 forkhead box L2 ISO ClinVar Annotator: match by term: Blepharophimosis syndrome type 2 ClinVar PMID:11175783, PMID:11468277, PMID:11776388, PMID:12400065, PMID:12529855, PMID:12630957, PMID:12938087, PMID:16283882, PMID:18372316, PMID:21325395, PMID:25741868 NCBI chr 8:107,194,492...107,197,644
Ensembl chr 8:107,194,551...107,195,675
JBrowse link
blepharophimosis, ptosis, and epicanthus inversus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Copb2 COPI coat complex subunit beta 2 ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus ClinVar NCBI chr 8:106,582,339...106,603,763 JBrowse link
G Foxl2 forkhead box L2 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus
ClinVar Annotator: match by term: BPES with Duane retraction syndrome
ClinVar Annotator: match by term: BPES with ovarian failure
ClinVar Annotator: match by term: BPES without ovarian failure
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:110100
ClinVar
CTD
OMIM
PMID:11175783, PMID:11468277, PMID:11776388, PMID:12149404, PMID:12161610, PMID:12400065, PMID:12529855, PMID:12630957, PMID:12938087, PMID:16283882, PMID:19429596, PMID:25741868, PMID:30311386, PMID:11175783 RGD:1598958 NCBI chr 8:107,194,492...107,197,644
Ensembl chr 8:107,194,551...107,195,675
JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus ClinVar NCBI chr 8:106,604,421...106,617,591
Ensembl chr 8:106,604,379...106,617,597
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
Bloch-Sulzberger syndrome 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: INCONTINENTIA PIGMENTI, TYPE II 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: Incontinentia pigmenti syndrome
ClinVar Annotator: match by term: Incontinentia pigmenti, atypical
ClinVar Annotator: match by term: INCONTINENTIA PIGMENTI, TYPE II
DNA:deletion:exons:
ClinVar Annotator: match by OMIM:308300
ClinVar
OMIM
PMID:8169255, PMID:9450877, PMID:10839543, PMID:11047757, PMID:11179023, PMID:11224521, PMID:11242109, PMID:11484156, PMID:11590134, PMID:18350553, PMID:20412081, PMID:20499091, PMID:25741868, PMID:27368913, PMID:30422821, PMID:31965418, PMID:10839543, PMID:15833158 RGD:1600008, RGD:12791266 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISS OMIM:308300 MouseDO NCBI chr  X:152,933,118...152,964,399
Ensembl chr  X:152,933,069...152,964,390
JBrowse link
brittle cornea syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chst14 carbohydrate sulfotransferase 14 ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIB
ClinVar Annotator: match by term: Brittle cornea syndrome 1
ClinVar PMID:1184396, PMID:9084938, PMID:10766984, PMID:11370633, PMID:12508273, PMID:16158441, PMID:20004762, PMID:20503305, PMID:20533528, PMID:20842734, PMID:21744491, PMID:22581468, PMID:22987394, PMID:25741868, PMID:26373698, PMID:26872206, PMID:26925854, PMID:28238810, PMID:28492532 NCBI chr 3:110,734,105...110,736,162
Ensembl chr 3:110,734,105...110,736,162
JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: BRITTLE CORNEA SYNDROME 1
ClinVar Annotator: match by term: Corneal fragility keratoglobus, blue sclerae AND joint hypermobility
ClinVar PMID:28492532 NCBI chr 4:96,659,062...96,810,816
Ensembl chr 4:96,659,084...96,812,263
JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Corneal fragility keratoglobus, blue sclerae AND joint hypermobility
ClinVar Annotator: match by OMIM:229200
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:5755738, PMID:7387950, PMID:18452888, PMID:19661234, PMID:20938016, PMID:25741868, PMID:30311386 NCBI chr19:54,843,864...55,083,935 JBrowse link
brittle cornea syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Brittle cornea syndrome 2
ClinVar Annotator: match by OMIM:614170
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:8458232, PMID:21664999, PMID:22122778, PMID:25741868, PMID:26395458, PMID:28492532 NCBI chr 4:96,659,062...96,810,816
Ensembl chr 4:96,659,084...96,812,263
JBrowse link
bullous congenital ichthyosiform erythroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt2 keratin 2 ISO ClinVar Annotator: match by term: Ichthyosis bullosa of Siemens
ClinVar Annotator: match by OMIM:146800
OMIM
ClinVar
PMID:1380918, PMID:2004005, PMID:7521371, PMID:7524919, PMID:8077693, PMID:9204966, PMID:9804344, PMID:10233323, PMID:10620137, PMID:11531804, PMID:28492532 NCBI chr 7:143,412,858...143,420,463
Ensembl chr 7:143,412,858...143,420,027
JBrowse link
C1q Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qa complement C1q A chain ISO ClinVar Annotator: match by term: C1q deficiency OMIM
ClinVar
PMID:7594474, PMID:8840296, PMID:9225968, PMID:21654842, PMID:28492532 NCBI chr 5:155,261,254...155,264,101
Ensembl chr 5:155,261,250...155,264,143
JBrowse link
G C1qb complement C1q B chain ISO ClinVar Annotator: match by term: C1q deficiency
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:2894352, PMID:17513176, PMID:21654842, PMID:24160257, PMID:25741868, PMID:28492532 NCBI chr 5:155,246,444...155,251,995
Ensembl chr 5:155,246,447...155,252,003
JBrowse link
G C1qc complement C1q C chain ISO ClinVar Annotator: match by term: C1q deficiency
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:7029321, PMID:7900940, PMID:8630118, PMID:21654842, PMID:24157463 NCBI chr 5:155,255,013...155,258,631
Ensembl chr 5:155,255,005...155,258,392
JBrowse link
Capillary Malformation-Arteriovenous Malformation 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: Capillary malformation-arteriovenous malformation ClinVar PMID:14639529, PMID:18446851, PMID:24038909, PMID:25741868, PMID:26499346, PMID:27535533, PMID:28295764, PMID:28492532, PMID:29891884 NCBI chr 2:13,593,100...13,613,910
Ensembl chr 2:13,593,100...13,613,910
JBrowse link
G Rasa1 RAS p21 protein activator 1 susceptibility ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:14639529, PMID:18446851, PMID:24038909, PMID:25741868, PMID:26499346, PMID:27535533, PMID:28295764, PMID:28492532, PMID:29171923, PMID:29891884, PMID:30120215, PMID:14639529 RGD:734495 NCBI chr 2:13,617,021...13,696,531
Ensembl chr 2:13,616,822...13,696,426
JBrowse link
G Stambp Stam binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23542699 NCBI chr 4:115,249,343...115,277,340
Ensembl chr 4:115,249,351...115,275,068
JBrowse link
Capillary Malformation-Arteriovenous Malformation 1 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: Capillary malformation-arteriovenous malformation 1 ClinVar PMID:14639529, PMID:18363760, PMID:18446851, PMID:23164092, PMID:24038909, PMID:25741868, PMID:26499346, PMID:27535533, PMID:28492532, PMID:29120072 NCBI chr 2:13,593,100...13,613,910
Ensembl chr 2:13,593,100...13,613,910
JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 OMIM
ClinVar
PMID:14639529, PMID:18363760, PMID:18446851, PMID:23164092, PMID:24038909, PMID:25741868, PMID:26499346, PMID:27535533, PMID:28492532, PMID:29120072 NCBI chr 2:13,617,021...13,696,531
Ensembl chr 2:13,616,822...13,696,426
JBrowse link
Capillary Malformation-Arteriovenous Malformation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2
ClinVar
OMIM
PMID:25741868, PMID:28687708, PMID:28730721, PMID:29444212, PMID:30578106 NCBI chr12:22,393,338...22,418,332
Ensembl chr12:22,393,330...22,417,980
JBrowse link
G Slc12a9 solute carrier family 12, member 9 ISO ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 ClinVar PMID:28687708 NCBI chr12:22,434,845...22,451,265
Ensembl chr12:22,434,814...22,451,263
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: CFC syndrome
ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1
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: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:26619011, PMID:26633545, PMID:26678033, 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:30311386, PMID:30820351, PMID:31474318, 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: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:12239713, PMID:12529707, PMID:16439621, PMID:16474404, 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:20958325, PMID:21062266, PMID:21107320, PMID:21654472, PMID:22197931, PMID:22327936, PMID:22589294, PMID:22753777, 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:25423878, PMID:25741868, PMID:26350204, PMID:26619011, PMID:26795593, PMID:27862862, PMID:28049852, PMID:28492532, PMID:29493581, PMID:29643386, PMID:30311386, 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:16372351, PMID:16439621, PMID:16474404, PMID:16523510, PMID:16804887, PMID:16825433, PMID:17366577, PMID:17483702, PMID:17551924, PMID:17603482, PMID:17603483, PMID:17703371, PMID:17704260, PMID:18039235, PMID:18042262, PMID:18186519, PMID:18413255, 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:21063443, PMID:21129611, PMID:21784453, PMID:22190897, PMID:22301711, PMID:22310681, PMID:22495831, PMID:22876591, PMID:23093928, PMID:23273605, PMID:23312806, PMID:23875798, PMID:23950000, PMID:24033266, PMID:24037001, PMID:24088041, PMID:24409384, PMID:24451042, PMID:24719372, PMID:24728327, PMID:24775816, PMID:24803665, PMID:25035421, PMID:25157968, PMID:25463315, PMID:25741868, PMID:26619011, PMID:26633545, PMID:28404629, PMID:28492532, PMID:28650561, PMID:28911804, PMID:29907801, PMID:30290804, PMID:30311386, PMID:31474318 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: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:16825433, PMID:17056636, PMID:17551339, PMID:17601930, PMID:17704260, PMID:17875937, PMID:17875939, PMID:18386799, PMID:18456719, PMID:19467855, PMID:20949621, PMID:21062266, PMID:21063026, PMID:21079152, PMID:21396583, PMID:21784453, PMID:21797849, PMID:21871821, PMID:23059812, PMID:24033266, PMID:24240292, PMID:24703799, PMID:24803665, PMID:25180280, PMID:25326637, PMID:25644510, PMID:25741868, PMID:26242988, PMID:26249544, 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:12239713, PMID:12529707, PMID:16439621, PMID:16474404, 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:20958325, PMID:21062266, PMID:21654472, PMID:22197931, PMID:22327936, PMID:22588879, PMID:22589294, PMID:22753777, 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:30311386, 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
Carney complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20a FAM20A, golgi associated secretory pathway pseudokinase ISO ClinVar Annotator: match by term: Carney complex
ClinVar Annotator: match by term: Carney complex, type 1
ClinVar PMID:22464252, PMID:23043190, PMID:23425300, PMID:24170103, PMID:25741868, PMID:28492532 NCBI chr10:97,962,467...98,017,171
Ensembl chr10:97,962,693...98,018,014
JBrowse link
G Myh8 myosin heavy chain 8 ISS OMIM:160980 | OMIM:605244 | OMIM:608837 MouseDO NCBI chr10:53,818,818...53,848,490
Ensembl chr10:53,818,818...53,918,524
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Carney complex, type 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:160980
OMIM
ClinVar
CTD
PMID:10973256, PMID:10974026, PMID:11115848, PMID:12424709, PMID:15371594, PMID:15992699, PMID:16569736, PMID:17396442, PMID:18056771, PMID:18241045, PMID:19293268, PMID:20358582, PMID:21850686, PMID:22112814, PMID:22259056, PMID:22341669, PMID:22464252, PMID:22785148, PMID:23043190, PMID:23425300, PMID:23942052, PMID:24033266, PMID:24170103, PMID:24728327, PMID:25637381, PMID:25741868, PMID:26822237, PMID:27825928, PMID:27930734, PMID:28051113, PMID:28492532, PMID:28640241, PMID:29264456 NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
JBrowse link
Carney Complex Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Carney complex variant OMIM
ClinVar
PMID:1600999, PMID:4443857, PMID:4837286, PMID:12800911, PMID:15282353, PMID:15590965, PMID:17041932, PMID:18049072, PMID:20949528, PMID:25741868 NCBI chr10:53,818,818...53,848,490
Ensembl chr10:53,818,818...53,918,524
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
CHILD syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Child syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:308050
OMIM
ClinVar
CTD
PMID:10710235, PMID:11907515, PMID:12966526, PMID:18414213, PMID:25526675, PMID:28492532 NCBI chr  X:152,933,118...152,964,399
Ensembl chr  X:152,933,069...152,964,390
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: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 5
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, PMID:30311386 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: Macrocephaly, macrosomia, facial dysmorphism syndrome
CTD
ClinVar
PMID:17632510, PMID:21681106, 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: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
Congenital Symmetric Circumferential Skin Creases 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb5 tubulin, beta 5 class I ISO ClinVar Annotator: match by term: Symmetric circumferential skin creases, congenital, 1 OMIM
ClinVar
PMID:12239728, PMID:23324645, PMID:26637975 NCBI chr20:3,422,448...3,426,420
Ensembl chr20:3,422,461...3,426,371
JBrowse link
Congenital Symmetric Circumferential Skin Creases 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapre2 microtubule-associated protein, RP/EB family, member 2 ISO ClinVar Annotator: match by term: Skin creases, congenital symmetric circumferential, 2 OMIM
ClinVar
PMID:19182162, PMID:21262397, PMID:26637975 NCBI chr18:14,814,149...15,780,290 JBrowse link
Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 8 ClinVar
OMIM
PMID:18470895, PMID:25741868, PMID:25957469, PMID:27381093, PMID:29314551, PMID:29805041, PMID:30311386 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: CONTRACTURES, PTERYGIA, AND VARIABLE SKELETAL FUSIONS SYNDROME 1B OMIM
ClinVar
PMID:29805041 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
cranioectodermal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift122 intraflagellar transport 122 ISO ClinVar Annotator: match by OMIM:218330
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cranioectodermal dysplasia
ClinVar
CTD
PMID:25741868, PMID:28492532 NCBI chr 4:147,756,574...147,826,983
Ensembl chr 4:147,756,553...147,826,997
JBrowse link
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 6:109,939,323...110,016,646
Ensembl chr 6:109,939,345...110,016,644
JBrowse link
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia ClinVar PMID:25741868 NCBI chr 6:34,071,428...34,091,048
Ensembl chr 6:34,071,428...34,091,048
JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia ClinVar NCBI chr 6:109,913,757...109,936,217
Ensembl chr 6:109,913,757...109,935,533
JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:23559409, PMID:25726036, PMID:25741868, PMID:26260382, PMID:27596865, PMID:28492532, PMID:28621010, 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:19760620, PMID:20493458, PMID:23826986, PMID:25741868, PMID:26792575, PMID:28370949, PMID:28492532, PMID:29037998 NCBI chr 4:147,756,574...147,826,983
Ensembl chr 4:147,756,553...147,826,997
JBrowse link
cranioectodermal dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar NCBI chr 6:34,071,428...34,091,048
Ensembl chr 6:34,071,428...34,091,048
JBrowse link
G Spag17 sperm associated antigen 17 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar NCBI chr 2:202,159,659...202,452,361
Ensembl chr 2:202,200,797...202,443,026
JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2
DNA:missense mutation:cds:p.L520P (human)
ClinVar Annotator: match by OMIM:613610
OMIM
ClinVar
PMID:20817137, PMID:21473986, PMID:22486404, PMID:22987818, PMID:24033266, PMID:24123776, PMID:25326635, PMID:25741868, PMID:25908617, PMID:25914204, PMID:26691894, PMID:28332779, PMID:28492532, PMID:28870638, PMID:29068549, PMID:22987818 RGD:11553909 NCBI chr 6:34,094,291...34,152,048
Ensembl chr 6:34,094,306...34,151,622
JBrowse link
cranioectodermal dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 3
ClinVar Annotator: match by OMIM:614099
OMIM
ClinVar
PMID:21378380 NCBI chr 6:109,939,323...110,016,646
Ensembl chr 6:109,939,345...110,016,644
JBrowse link
cranioectodermal dysplasia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 4
DNA:missense mutation:cds:p.L750P (mouse)
ClinVar Annotator: match by OMIM:614378
OMIM
ClinVar
PMID:22019273, PMID:23683095, PMID:25741868, PMID:27241786, PMID:28492532, PMID:22228095 RGD:11552606 NCBI chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120
JBrowse link
Cyclic Ichthyosis with Epidermolytic Hyperkeratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt1 keratin 1 ISO ClinVar Annotator: match by OMIM:607602 OMIM
ClinVar
PMID:10053007 NCBI chr 7:143,448,318...143,453,544
Ensembl chr 7:143,448,318...143,453,544
JBrowse link
G Krt10 keratin 10 ISO OMIM NCBI chr10:87,296,445...87,301,307
Ensembl chr10:87,296,451...87,300,736
JBrowse link
De Sanctis-Cacchione Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1372469, PMID:7063265, PMID:9443879, PMID:10196384, PMID:10767341, PMID:11809892, PMID:18414213, PMID:18628313, PMID:18784753, PMID:19894250, PMID:20122405, PMID:20456449, PMID:21143350, PMID:21228398, PMID:22661500, PMID:22904069, PMID:23311583, PMID:23422418, PMID:23428416, PMID:24154677, PMID:25136123, PMID:25326635, PMID:25356239, PMID:25463447, PMID:25741868, PMID:25820262, PMID:26204423, PMID:26206375, PMID:26218421, PMID:26620705, PMID:26749132, PMID:27004399, PMID:27186691, PMID:27356891, PMID:28170084, PMID:28440418, PMID:28492532, PMID:29203878, PMID:29572252, PMID:29915382, PMID:30311386 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
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 OMIM:125595 OMIM
ClinVar
PMID:1303619, PMID:16960809 NCBI chr10:88,118,029...88,122,233
Ensembl chr10:88,055,823...88,122,233
JBrowse link
dyskeratosis congenita term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadvl acyl-CoA dehydrogenase, very long chain ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,619,321...56,624,468
Ensembl chr10:56,619,303...56,624,526
JBrowse link
G Acap1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,492,300...56,506,446
Ensembl chr10:56,492,300...56,506,446
JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,851,734...56,864,049
Ensembl chr10:56,851,734...56,864,005
JBrowse link
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,744,646...55,756,524
Ensembl chr10:55,744,588...55,756,566
JBrowse link
G Alox15b arachidonate 15-lipoxygenase, type B ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,773,748...55,783,489
Ensembl chr10:55,774,006...55,783,489
JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,711,996...55,735,915
Ensembl chr10:55,712,043...55,735,911
JBrowse link
G Arhgef15 Rho guanine nucleotide exchange factor 15 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,532,097...55,545,675
Ensembl chr10:55,532,077...55,544,429
JBrowse link
G Asgr1 asialoglycoprotein receptor 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,662,188...56,666,086
Ensembl chr10:56,662,242...56,666,086
JBrowse link
G Asgr2 asialoglycoprotein receptor 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,710,446...56,723,608
Ensembl chr10:56,710,464...56,723,611
JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,205,622...56,211,879
Ensembl chr10:56,205,625...56,211,891
JBrowse link
G Aurkb aurora kinase B ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,625,860...55,632,399
Ensembl chr10:55,626,741...55,634,991
JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:9,549,605...9,558,672
Ensembl chr17:9,550,028...9,558,634
JBrowse link
G Bcl6b BCL6B, transcription repressor ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,834,363...56,840,058
Ensembl chr10:56,834,364...56,839,437
JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,642,070...55,643,924
Ensembl chr10:55,642,070...55,643,923
JBrowse link
G Cd68 Cd68 molecule ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,268,726...56,270,605
Ensembl chr10:56,268,720...56,270,640
JBrowse link
G Chd3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,943,467...55,970,417
Ensembl chr10:55,943,446...55,965,216
JBrowse link
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,390,671...56,403,255
Ensembl chr10:56,390,671...56,403,188
JBrowse link
G Cldn7 claudin 7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,576,326...56,578,632
Ensembl chr10:56,576,428...56,578,626
JBrowse link
G Clec10a C-type lectin domain containing 10A ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,764,927...56,769,447
Ensembl chr10:56,764,927...56,769,457
JBrowse link
G Cntrob centrobin, centriole duplication and spindle assembly protein ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,901,929...55,927,121
Ensembl chr10:55,901,901...55,924,158
JBrowse link
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18076099, PMID:22267198, PMID:22387016, PMID:22532422, PMID:22899577, PMID:23869908, PMID:24033266, PMID:24115768, PMID:25182133, PMID:25741868, PMID:25843205, PMID:28135719, PMID:28492532, PMID:29228254, PMID:29481669, PMID:30311386, PMID:30393977 NCBI chr10:55,596,172...55,616,873
Ensembl chr10:55,596,148...55,616,889
JBrowse link
G Ctdnep1 CTD nuclear envelope phosphatase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,590,822...56,600,235
Ensembl chr10:56,591,292...56,600,232
JBrowse link
G Cyb5d1 cytochrome b5 domain containing 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,993,206...55,997,429
Ensembl chr10:55,995,823...55,997,299
JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO DNA:missense mutations, deletion: :multiple
ClinVar Annotator: match by term: Dyskeratosis congenita
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exon:146C>T (p.T49M), 361A>G (p.S121G) (human)
DNA:missense mutation:exon: p.P409A (c.1226C>G) (human)
DNA:missense mutations, splice-site mutaion:exon, intron:multiple
ClinVar
CTD
PMID:9590285, PMID:10364516, PMID:10583221, PMID:10700698, PMID:11491307, PMID:14648217, PMID:15304085, PMID:16332973, PMID:17785587, PMID:19391112, PMID:19734544, PMID:19835419, PMID:21602826, PMID:22058290, PMID:22299032, PMID:23660516, PMID:24914498, PMID:25741868, PMID:25992652, PMID:28492532, PMID:9590285, PMID:10583221, PMID:23946118, PMID:12522253, PMID:10364516 RGD:734888, RGD:11251734, RGD:11251732, RGD:11251731, RGD:10755414 NCBI chr  X:155,844,914...155,862,363
Ensembl chr  X:155,844,857...155,862,475
JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,625,845...56,655,543
Ensembl chr10:56,627,411...56,653,599
JBrowse link
G Dnah2 dynein, axonemal, heavy chain 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,029,022...56,154,602
Ensembl chr10:56,029,029...56,154,548
JBrowse link
G Dvl2 dishevelled segment polarity protein 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,609,810...56,619,269
Ensembl chr10:56,610,051...56,619,269
JBrowse link
G Efnb3 ephrin B3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,161,431...56,168,819
Ensembl chr10:56,161,432...56,167,426
JBrowse link
G Eif4a1 eukaryotic translation initiation factor 4A1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,271,257...56,276,764
Ensembl chr10:56,271,257...56,276,764
JBrowse link
G Eif5a eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,527,075...56,531,615
Ensembl chr10:56,527,085...56,531,483
JBrowse link
G Elp5 elongator acetyltransferase complex subunit 5 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,578,980...56,590,706
Ensembl chr10:56,578,985...56,591,364
JBrowse link
G Fbxo39 F-box protein 39 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:58,874,028...58,878,445
Ensembl chr10:58,875,826...58,878,445
JBrowse link
G Fgf11 fibroblast growth factor 11 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,403,320...56,410,816
Ensembl chr10:56,403,256...56,409,017
JBrowse link
G Fxr2 FMR1 autosomal homolog 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,237,814...56,257,877
Ensembl chr10:56,237,755...56,257,890
JBrowse link
G Gabarap GABA type A receptor-associated protein ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,601,288...56,604,223
Ensembl chr10:56,601,288...56,604,221
JBrowse link
G Gar1 GAR1 ribonucleoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22299032 NCBI chr 2:235,250,453...235,258,464
Ensembl chr 2:235,250,453...235,257,731
JBrowse link
G Gps2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,524,327...56,527,447
Ensembl chr10:56,524,468...56,526,987
JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,835,695...55,851,235
Ensembl chr10:55,835,695...55,851,235
JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,704,485...55,710,523
Ensembl chr10:55,707,164...55,709,687
JBrowse link
G Kcnab3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,927,228...55,933,653
Ensembl chr10:55,927,223...55,933,653
JBrowse link
G Kctd11 potassium channel tetramerization domain containing 11 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,489,552...56,491,715
Ensembl chr10:56,489,552...56,491,715
JBrowse link
G Kdm6b lysine demethylase 6B ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,000,494...56,009,582
Ensembl chr10:56,001,799...56,008,885
JBrowse link
G Mir195 microRNA 195 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,845,301...56,845,387
Ensembl chr10:56,845,301...56,845,387
JBrowse link
G Mpdu1 mannose-P-dolichol utilization defect 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,261,636...56,267,213
Ensembl chr10:56,261,637...56,267,213
JBrowse link
G N4bp3 Nedd4 binding protein 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:34,996,702...35,005,365
Ensembl chr10:34,997,008...35,005,287
JBrowse link
G Naa38 N(alpha)-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,997,614...55,998,691
Ensembl chr10:55,997,614...55,998,691
JBrowse link
G Neurl4 neuralized E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,511,861...56,524,233
Ensembl chr10:56,512,615...56,524,229
JBrowse link
G Nhp2 NHP2 ribonucleoprotein ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:25741868, PMID:28492532 NCBI chr10:34,975,701...34,979,082
Ensembl chr10:34,975,708...34,979,082
JBrowse link
G Nlgn2 neuroligin 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,431,586...56,444,847
Ensembl chr10:56,431,573...56,444,847
JBrowse link
G Npm1 nucleophosmin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31570891 NCBI chr10:18,080,949...18,091,062
Ensembl chr10:18,080,950...18,090,950
JBrowse link
G Odf4 outer dense fiber of sperm tails 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,510,333...55,516,315
Ensembl chr10:55,510,340...55,515,885
JBrowse link
G Parn poly(A)-specific ribonuclease ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:25893599 NCBI chr10:1,309,724...1,461,123
Ensembl chr10:1,308,414...1,461,269
JBrowse link
G Per1 period circadian regulator 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,681,761...55,696,557
Ensembl chr10:55,687,050...55,695,994
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198, PMID:25741868, PMID:28492532 NCBI chr10:55,571,881...55,593,384
Ensembl chr10:55,571,118...55,589,978
JBrowse link
G Phf23 PHD finger protein 23 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,605,078...56,609,236
Ensembl chr10:56,605,140...56,609,233
JBrowse link
G Plscr3 phospholipid scramblase 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,452,632...56,458,390
Ensembl chr10:56,453,877...56,458,390
JBrowse link
G Polr2a RNA polymerase II subunit A ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,339,277...56,364,888
Ensembl chr10:56,339,284...56,365,084
JBrowse link
G Prop1 PROP paired-like homeobox 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:36,449,920...36,452,381
Ensembl chr10:36,449,920...36,452,378
JBrowse link
G Rangrf RAN guanine nucleotide release factor ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,559,049...55,560,420
Ensembl chr10:55,559,041...55,560,422
JBrowse link
G RGD1308134 similar to RIKEN cDNA 1110020A23 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,843,846...56,848,265
Ensembl chr10:56,845,383...56,849,255
JBrowse link
G Rmnd5b required for meiotic nuclear division 5 homolog B ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:25741868, PMID:28492532 NCBI chr10:34,979,902...34,990,985
Ensembl chr10:34,979,923...34,990,943
JBrowse link
G Rnasek ribonuclease K ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,848,367...56,850,085
Ensembl chr10:56,848,369...56,850,085
JBrowse link
G Rpl26 ribosomal protein L26 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,492,417...55,495,547
Ensembl chr10:55,492,404...55,496,012
JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:19461895, PMID:23329068, PMID:23453664, PMID:23829372, PMID:23959892, PMID:24009516, PMID:24033266, PMID:24582487, PMID:25047097, PMID:25099625, PMID:25607374, PMID:25620558, PMID:25741868, PMID:25848748, PMID:26025130, PMID:26808564, PMID:27128385, PMID:27415407, PMID:27418648, PMID:28099038, PMID:28492532, PMID:28930861 NCBI chr 3:176,818,012...176,856,531
Ensembl chr 3:176,818,437...176,856,531
JBrowse link
G Sat2 spermidine/spermine N1-acetyltransferase family member 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,227,703...56,229,796
Ensembl chr10:56,227,692...56,229,850
JBrowse link
G Senp3 SUMO specific peptidase 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,277,609...56,286,867
Ensembl chr10:56,277,615...56,286,391
JBrowse link
G Shbg sex hormone binding globulin ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,219,861...56,237,354
Ensembl chr10:56,219,858...56,223,245
JBrowse link
G Slc13a5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:58,806,581...58,835,549
Ensembl chr10:58,810,058...58,834,538
JBrowse link
G Slc16a11 solute carrier family 16, member 11 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,822,697...56,826,480
Ensembl chr10:56,822,756...56,826,479
JBrowse link
G Slc16a13 solute carrier family 16, member 13 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,827,591...56,831,324
Ensembl chr10:56,827,594...56,831,243
JBrowse link
G Slc25a35 solute carrier family 25, member 35 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,554,911...55,559,083
Ensembl chr10:55,555,089...55,559,082
JBrowse link
G Slc2a4 solute carrier family 2 member 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,552,921...56,558,562
Ensembl chr10:56,552,983...56,558,487
JBrowse link
G Slc35g3 solute carrier family 35, member G3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,366,578...56,368,360
Ensembl chr10:56,366,609...56,368,360
JBrowse link
G Sox15 SRY-box transcription factor 15 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,260,514...56,263,503
Ensembl chr10:56,260,514...56,263,503
JBrowse link
G Spem1 spermatid maturation 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,428,447...56,429,748
Ensembl chr10:56,428,344...56,429,833
JBrowse link
G Spem2 SPEM family member 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,424,164...56,426,012
Ensembl chr10:56,424,164...56,426,012
JBrowse link
G Tekt1 tektin 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:58,895,689...58,924,098
Ensembl chr10:58,895,674...58,924,137
JBrowse link
G Terc telomerase RNA component ISO CTD Direct Evidence: marker/mechanism CTD PMID:17785587 NCBI chr 2:116,432,723...116,433,110
Ensembl chr 2:116,432,691...116,433,110
JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dyskeratosis congenita
CTD
ClinVar
PMID:16247010, PMID:17785587, PMID:18042801, PMID:24033266, PMID:25741868, PMID:26024875, PMID:28492532, PMID:31119896 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Tgm1 transglutaminase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18669893, PMID:21199492, PMID:22211879, PMID:28492532 NCBI chr15:34,378,136...34,393,150
Ensembl chr15:34,378,148...34,392,066
JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dyskeratosis congenita
CTD
ClinVar
PMID:18252230, PMID:18669893, PMID:19090550, PMID:21199492, PMID:21536674, PMID:22211879, PMID:23094712, PMID:25741868, PMID:26193622, PMID:26859482, PMID:28492532, PMID:29742735, PMID:30311386 NCBI chr15:34,358,697...34,365,085
Ensembl chr15:34,360,974...34,364,081
JBrowse link
G Tmem102 transmembrane protein 102 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,410,898...56,413,154
Ensembl chr10:56,410,918...56,412,544
JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,653,694...55,656,270
Ensembl chr10:55,653,946...55,656,270
JBrowse link
G Tmem256 transmembrane protein 256 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,446,022...56,447,138
Ensembl chr10:56,445,647...56,447,138
JBrowse link
G Tmem88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,998,530...56,000,225
Ensembl chr10:55,998,530...56,000,225
JBrowse link
G Tmem95 transmembrane protein 95 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,486,778...56,488,723
Ensembl chr10:56,487,417...56,488,723
JBrowse link
G Tnfsf12 TNF superfamily member 12 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,290,780...56,300,137
Ensembl chr10:56,290,780...56,300,077
JBrowse link
G Tnfsf13 TNF superfamily member 13 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,286,964...56,290,680
Ensembl chr10:56,286,887...56,289,952
JBrowse link
G Tnk1 tyrosine kinase, non-receptor, 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,458,650...56,475,183
Ensembl chr10:56,459,108...56,465,393
JBrowse link
G Tp53 tumor protein p53 ISS
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita MouseDO
ClinVar
PMID:28492532 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Trappc1 trafficking protein particle complex 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,924,996...55,926,582
Ensembl chr10:55,924,938...55,926,783
JBrowse link
G Vamp2 vesicle-associated membrane protein 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,675,171...55,679,405
Ensembl chr10:55,675,575...55,679,450
JBrowse link
G Wrap53 WD repeat containing, antisense to TP53 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,169,024...56,185,800
Ensembl chr10:56,169,025...56,185,857
JBrowse link
G Xaf1 XIAP associated factor 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:58,860,647...58,872,782
Ensembl chr10:58,860,940...58,873,674
JBrowse link
G Ybx2 Y box binding protein 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,546,689...56,552,339
Ensembl chr10:56,546,710...56,551,863
JBrowse link
G Zbtb4 zinc finger and BTB domain containing 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,367,586...56,388,296
Ensembl chr10:56,381,813...56,385,960
JBrowse link
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 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
ClinVar PMID:16435307, PMID:18065779, PMID:18561327, PMID:18704500, PMID:24033266, PMID:25741868, 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 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 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
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:22350046, 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:24664614, PMID:24689965, PMID:24724966, PMID:25333067, PMID:25626993, PMID:25741868, PMID:26273176, PMID:26325558, PMID:26345974, PMID:26634545, PMID:26753551, PMID:27054699, PMID:27144394, PMID:27305980, 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 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:24043634, PMID:24449199, PMID:24700731, PMID:25356970, PMID:25629078, PMID:25741868, PMID:28105635, PMID:28492532 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 Edar ectodysplasin-A receptor ISO 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:10431241, PMID:11035039, PMID:15013427, PMID:16435307, PMID:17125505, PMID:18231121, PMID:18854857, PMID:20236127, PMID:20979233, PMID:23401279, PMID:24033266, PMID:24884697, PMID:25741868, PMID:26336973, PMID:27305980, PMID:27657131, PMID:28492532, 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
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: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
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: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