Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:Genetic Skin Diseases
go back to main search page
Accession:DOID:9007168 term browser browse the term
Definition:Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism.
Synonyms:exact_synonym: Genetic Skin Disease
 primary_id: MESH:D012873
 alt_id: RDO:0001013
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Genetic Skin Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt13 keratin 13 susceptibility ISO DNA:missense mutation: ; white sponge nevus, OMIM:193900 RGD PMID:7493031 RGD:1304472 NCBI chr10:88,032,130...88,036,040
Ensembl chr10:88,032,130...88,036,040
JBrowse link
G Krt4 keratin 4 susceptibility ISO DNA:deletion: ; white sponge nevus, OMIM:193900 RGD PMID:7493030 RGD:1600193 NCBI chr 7:143,517,562...143,523,522
Ensembl chr 7:143,518,010...143,523,503
JBrowse link
Actinic Prurigo term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:Polymorphism: :HLA-DRB1*14(human) RGD PMID:11369906 RGD:7365088 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
acute intermittent porphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alas2 5'-aminolevulinate synthase 2 ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:23650938 RGD:18337288 NCBI chr  X:23,167,576...23,187,356
Ensembl chr  X:23,167,696...23,187,341
JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Hydroxymethylbilane Synthase Deficiency
ClinVar Annotator: match by term: Acute intermittent porphyria
ClinVar PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr 8:48,657,779...48,664,531
Ensembl chr 8:48,657,795...48,664,860
JBrowse link
G Hmbs hydroxymethylbilane synthase severity
treatment
susceptibility
ISO ClinVar Annotator: match by term: Abnormality of the heme biosynthetic pathway
ClinVar Annotator: match by term: Acute intermittent porphyria
ClinVar Annotator: match by term: Porphyria, Swedish type
DNA:mutations:multiple
DNA:mutations:multiple
DNA:splice-site mutation, missense mutation:intron 9, exon 10: IVS9-1G>A, p.R201W (human)
DNA:missense mutation:cds: p.R167Q (c.500G>A) (mouse)
DNA:missense mutation:exon 10: p.R173W (173C>T) (human)
human mRNA in a mouse model
DNA:deletion:exon 12:669-698del (p.E223_L232del) (human)
DNA:SNPs, deletion, haplotype:multiple
DNA:missense mutation:cds: p.V215M (human)
human gene in a mouse model
DNA:SNPs, haplotype:multiple
DNA:missense mutation:exon 10: p.R173W (c.517C>T) (human)
DNA:transversion:intron:IVS11-3C>G (human)
DNA:missense mutation:cd: p.A330P (human)
ClinVar Annotator: match by term: Hydroxymethylbilane Synthase Deficiency
ClinVar Annotator: match by OMIM:176000
CTD Direct Evidence: marker/mechanism
DNA:transition, transversions:intron:IVS1+1G>A, +2T>A, +5C>G (human)
ClinVar
CTD
OMIM
PMID:1301948, PMID:1427766, PMID:1496994, PMID:1577472, PMID:1714233, PMID:1961762, PMID:2025226, PMID:2227955, PMID:2243128, PMID:2789372, PMID:2864531, PMID:6132132, PMID:7757070, PMID:7962538, PMID:8081367, PMID:8096492, PMID:8262514, PMID:8262523, PMID:8270254, PMID:8270256, PMID:8401516, PMID:8772850, PMID:9199558, PMID:9225970, PMID:9281416, PMID:10408772, PMID:10494093, PMID:10502788, PMID:11055586, PMID:11831862, PMID:12357456, PMID:12372055, PMID:12566739, PMID:12773194, PMID:14970743, PMID:15003823, PMID:15469427, PMID:15534187, PMID:15643298, PMID:16211556, PMID:16817012, PMID:17298217, PMID:18414213, PMID:18627369, PMID:19138865, PMID:19292878, PMID:19460837, PMID:19656453, PMID:19694018, PMID:20978940, PMID:23815679, PMID:24997713, PMID:25637381, PMID:25741868, PMID:26075277, PMID:26095755, PMID:26582343, PMID:27507172, PMID:27539938, PMID:27558376, PMID:27849156, PMID:27884173, PMID:28492532, PMID:30311386, PMID:32581362, PMID:8563760, PMID:24997713, PMID:30385147, PMID:8270256, PMID:30615115, PMID:26071363, PMID:10453740, PMID:9455613, PMID:30297912, PMID:15469427, PMID:14757946, PMID:19138865, PMID:19656452, PMID:28990424, PMID:19656453, PMID:9523350, PMID:10667475, PMID:25870942, PMID:19664584, PMID:9860299 RGD:4145271, RGD:19165346, RGD:21079461, RGD:19165358, RGD:21079460, RGD:21079459, RGD:21079458, RGD:21079457, RGD:21079456, RGD:21079455, RGD:21079454, RGD:21079453, RGD:19165351, RGD:21079452, RGD:19165352, RGD:19165353, RGD:21079451, RGD:21079450, RGD:21079449, RGD:4144787 NCBI chr 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748
JBrowse link
G Ppox protoporphyrinogen oxidase ISO DNA:missense mutation:exon:p.R59W (mouse) RGD PMID:11929050 RGD:4145363 NCBI chr13:89,650,094...89,654,998
Ensembl chr13:89,650,094...89,654,244
JBrowse link
Acute Intermittent Porphyria, Nonerythroid Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by null ClinVar PMID:2511016, PMID:2563167, PMID:2915972, PMID:7962538, PMID:9199558, PMID:9860299, PMID:10343207, PMID:11071386 NCBI chr 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748
JBrowse link
Adams-Oliver syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Scalp defect congenital ClinVar PMID:25741868 NCBI chr 2:189,045,551...189,085,448
Ensembl chr 2:189,062,443...189,083,236
JBrowse link
G Arhgap31 Rho GTPase activating protein 31 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr11:64,600,968...64,714,114
Ensembl chr11:64,601,029...64,714,252
JBrowse link
G Bms1 BMS1 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Scalp defect congenital ClinVar PMID:23785305 NCBI chr 4:150,433,567...150,471,783
Ensembl chr 4:150,433,570...150,471,834
JBrowse link
G Dll4 delta like canonical Notch ligand 4 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:26299364, PMID:29924900 NCBI chr 3:111,135,011...111,146,746
Ensembl chr 3:111,135,021...111,145,986
JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adams-Oliver syndrome
CTD
ClinVar
PMID:21820096, PMID:24033266, PMID:25558065 NCBI chr 8:22,822,412...22,874,670
Ensembl chr 8:22,822,412...22,874,645
JBrowse link
G Eogt EGF domain specific O-linked N-acetylglucosamine transferase ISO ClinVar Annotator: match by term: Adams-Oliver syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:23522784, PMID:25558065 NCBI chr 4:129,477,779...129,515,435
Ensembl chr 4:129,477,807...129,515,435
JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Rbpj recombination signal binding protein for immunoglobulin kappa J region ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:59,657,738...59,865,427
Ensembl chr14:59,658,935...59,735,450
JBrowse link
Adams-Oliver Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap31 Rho GTPase activating protein 31 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 1 OMIM
ClinVar
PMID:474617, PMID:16451141, PMID:21565291, PMID:25741868, PMID:28492532, PMID:29924900 NCBI chr11:64,600,968...64,714,114
Ensembl chr11:64,601,029...64,714,252
JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 1 ClinVar PMID:25741868, PMID:26457590, PMID:29924900 NCBI chr 8:22,822,412...22,874,670
Ensembl chr 8:22,822,412...22,874,645
JBrowse link
Adams-Oliver Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 2
ClinVar Annotator: match by OMIM:614219
OMIM
ClinVar
PMID:8849019, PMID:17159513, PMID:21820096, PMID:23522784, PMID:25558065, PMID:25741868, PMID:25824905, PMID:26457590, PMID:28492532, PMID:28884918, PMID:29924900, PMID:30111349 NCBI chr 8:22,822,412...22,874,670
Ensembl chr 8:22,822,412...22,874,645
JBrowse link
Adams-Oliver Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbpj recombination signal binding protein for immunoglobulin kappa J region ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 3
ClinVar Annotator: match by OMIM:614814
OMIM
ClinVar
PMID:22883147, PMID: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
adermatoglyphia 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: Adermatoglyphia
ClinVar Annotator: match by term: FINGERPRINTS, ABSENCE OF
ClinVar Annotator: match by OMIM:136000
OMIM
ClinVar
PMID:10631162, PMID:20619487, PMID:21820097, PMID:24909267, PMID:25741868, PMID:26932190, PMID:29409814 NCBI chr 4:95,884,020...95,945,248
Ensembl chr 4:95,884,743...95,945,248
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
ALAD-Deficiency Porphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate dehydratase ISO ClinVar Annotator: match by term: Porphyria, acute hepatic, digenic
ClinVar Annotator: match by term: Porphobilinogen synthase deficiency
ClinVar Annotator: match by OMIM:612740
OMIM
ClinVar
PMID:513604, PMID:1569184, PMID:1716854, PMID:1905639, PMID:2063868, PMID:3684400, PMID:10519994, PMID:15303011, PMID:16398658, PMID:17236137, PMID:24033266, PMID:28492532 NCBI chr 5:78,368,867...78,379,206
Ensembl chr 5:78,368,867...78,379,346
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase IEP protein:increased expression:liver RGD PMID:23390166 RGD:10449130 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
Aland Island eye disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Ocular albinism, type II ClinVar PMID:30718709 NCBI chr 1:219,383,452...219,388,009
Ensembl chr 1:219,383,452...219,388,009
JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Ocular albinism, type II
DNA:deletion:exon:
OMIM
ClinVar
PMID:14230113, PMID:17525176, PMID:25741868, PMID:30311386, PMID:30718709, PMID:17525176 RGD:13782379 NCBI chr  X:15,712,709...15,741,135
Ensembl chr  X:15,712,713...15,741,103
JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Ocular albinism, type II ClinVar PMID:28492532, PMID:30718709 NCBI chr 5:79,235,541...79,317,206
Ensembl chr 5:79,234,950...79,317,206
JBrowse link
Albinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr143 G protein-coupled receptor 143 ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:8634705, PMID:28041643 NCBI chr  X:23,668,363...23,693,162
Ensembl chr  X:23,668,363...23,693,162
JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:9497254, PMID:9705234, PMID:15952982, PMID:17365864, PMID:20514622, PMID:25741868, PMID:26806224, PMID:28081892, PMID:28492532, PMID:30311386, PMID:31064749 NCBI chr 1:261,989,178...262,015,282
Ensembl chr 1:261,989,178...262,015,153
JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:8421497, PMID:10094567, PMID:11310796, PMID:11464238, PMID:12469324, PMID:15712365, PMID:15889046, PMID:19060277, PMID:21085994, PMID:21292473, PMID:23504663, PMID:23824587, PMID:25093188, PMID:25741868, PMID:26818737, PMID:28041643, PMID:30311386 NCBI chr 1:114,661,970...114,987,433
Ensembl chr 1:114,679,537...114,987,433
JBrowse link
G Tyr tyrosinase treatment ISO
IMP
DNA:missense mutation:cds:p.H420R(mouse)
ClinVar Annotator: match by term: Albinism
ClinVar PMID:666627, PMID:1429711, PMID:1820207, PMID:1832718, PMID:1899321, PMID:1903591, PMID:1970634, PMID:2903492, PMID:7704033, PMID:7849740, PMID:9158138, PMID:9163730, PMID:10766867, PMID:11284711, PMID:12753405, PMID:13680365, PMID:15146472, PMID:15381243, PMID:17952075, PMID:17999355, PMID:18326704, PMID:18463683, PMID:18488027, PMID:18488028, PMID:18590551, PMID:18821858, PMID:18925668, PMID:19060277, PMID:19208379, PMID:19533789, PMID:19865097, PMID:20861488, PMID:21541274, PMID:22294196, PMID:23504663, PMID:24033266, PMID:24721949, PMID:25216246, PMID:25741868, PMID:25919014, PMID:28041643, PMID:28266639, PMID:28451379, PMID:28629449, PMID:30311386, PMID:2567165, PMID:23409244, PMID:2112453 RGD:8694353, RGD:12792973, RGD:8694355 NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
JBrowse link
G Tyrem1Kyo tyrosinase; TALEN induced mutant1, Kyo IMP RGD PMID:23409244 RGD:12792973
G Tyrp1 tyrosinase-related protein 1 ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:8651291, PMID:9345097, PMID:25741868, PMID:28041643 NCBI chr 5:98,387,291...98,406,083
Ensembl chr 5:98,387,291...98,406,083
JBrowse link
Alopecia Congenita Keratosis Palmoplantaris term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Alopecia congenita keratosis palmoplantaris ClinVar PMID:25168385 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
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: Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
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:8456838, PMID:9774969, PMID:10886756, PMID:11159940, PMID:11929852, PMID:15200513, PMID:16724007, PMID:18603493, PMID:18626511, PMID:19239083, PMID:19353588, PMID:19676059, PMID:19781362, PMID:19793345, PMID:20543567, PMID:21615690, PMID:27469932, PMID:28492532, PMID:11159940 RGD:11568643 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
JBrowse link
arterial tortuosity syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:25741868 NCBI chr 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:25741868 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISS OMIM:208050 MouseDO NCBI chr 1:220,862,474...220,867,973
Ensembl chr 1:220,862,386...220,867,815
JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Arterial tortuosity syndrome
ClinVar Annotator: match by OMIM:208050
OMIM
ClinVar
PMID:12801113, PMID:14569121, PMID:16550171, PMID:17163528, PMID:17935213, PMID:18565096, PMID:18774132, PMID:18818946, PMID:19028722, PMID:19622975, PMID:19781076, PMID:22488877, PMID:23142374, PMID:23410549, PMID:23494979, PMID:24033266, PMID:25326637, PMID:25373504, PMID:25741868, PMID:25944730, PMID:26376865, PMID:28492532, PMID:28726533, PMID:29907982 NCBI chr 3:162,182,156...162,194,610
Ensembl chr 3:162,181,974...162,194,804
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 CTD PMID:21258341 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: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:25326637, PMID:25330149, PMID:25356970, PMID:25374739, PMID:25428789, PMID:25452441, PMID:25460276, PMID:25479140, PMID:25480502, PMID:25502423, PMID:25503501, PMID:25523272, PMID:25525159, PMID: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: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: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: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: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: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
atopic dermatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actl9 actin-like 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 NCBI chr 7:18,310,624...18,312,001
Ensembl chr 7:18,310,624...18,312,001
JBrowse link
G Adam17 ADAM metallopeptidase domain 17 ISS OMIM:603165 MouseDO NCBI chr 6:43,400,525...43,448,280
Ensembl chr 6:43,400,528...43,448,280
JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869817 NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
JBrowse link
G Apoe apolipoprotein E ISO protein:decreased expression:plasma RGD PMID:19116453 RGD:11040546 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Artn artemin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869817 NCBI chr 5:136,759,717...136,765,036
Ensembl chr 5:136,759,717...136,762,986
JBrowse link
G Bdnf brain-derived neurotrophic factor susceptibility
no_association
ISO DNA:polymorphism::C270T(human)
protein:increased expression:serum:
DNA:polymorphism:cds:p.V66M(human)
mRNA:decreased expression:mast cell
RGD PMID:19522715, PMID:17073871, PMID:19038326, PMID:17845420 RGD:8657028, RGD:8657069, RGD:8657067, RGD:8657065 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G C3 complement C3 ISO protein:increased expression:plasma RGD PMID:3923750 RGD:7401273 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Card11 caspase recruitment domain family, member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114, PMID:28628108 NCBI chr12:15,700,600...15,844,512
Ensembl chr12:15,700,825...15,844,512
JBrowse link
G Card14 caspase recruitment domain family, member 14 ISO ClinVar Annotator: match by term: Dermatitis, atopic ClinVar PMID:22421419, PMID:22521419, PMID:28492532, PMID:30311386 NCBI chr10:108,440,480...108,469,012
Ensembl chr10:108,440,950...108,468,310
JBrowse link
G Casp8 caspase 8 ISS OMIM:603165 MouseDO NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
JBrowse link
G Ccdc80 coiled-coil domain containing 80 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 NCBI chr11:60,645,660...60,679,249
Ensembl chr11:60,645,086...60,679,555
JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
JBrowse link
G Ccl17 C-C motif chemokine ligand 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr19:10,619,220...10,620,671
Ensembl chr19:10,619,220...10,620,671
JBrowse link
G Ccl20 C-C motif chemokine ligand 20 severity
treatment
ISO protein:increased expression:plasma RGD PMID:11133838, PMID:19162238 RGD:7483580, RGD:7483583 NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
JBrowse link
G Ccl22 C-C motif chemokine ligand 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437, PMID:22125604 NCBI chr19:10,674,189...10,681,145
Ensembl chr19:10,674,189...10,681,145
JBrowse link
G Ccl24 C-C motif chemokine ligand 24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr12:24,131,529...24,152,626
Ensembl chr12:24,148,567...24,152,625
JBrowse link
G Ccl26 C-C motif chemokine ligand 26 ISO protein:increased expression:serum (human) RGD PMID:14616792 RGD:11087554 NCBI chr12:24,157,182...24,161,870
Ensembl chr12:24,158,766...24,161,869
JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO RGD PMID:12642842 RGD:1626250 NCBI chr 5:58,159,066...58,166,182
Ensembl chr 5:58,159,066...58,163,584
JBrowse link
G Ccl28 C-C motif chemokine ligand 28 severity ISO associated with Asthma; protein: increased secretion:serum (human) RGD PMID:20161852 RGD:4892193 NCBI chr 2:52,379,341...52,403,979
Ensembl chr 2:52,379,341...52,404,246
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO protein:increased expression:skin,monocyte: RGD PMID:15370700 RGD:8661734
G Ccr3 C-C motif chemokine receptor 3 ISO protein:increased expression:skin
CTD Direct Evidence: marker/mechanism
CTD PMID:18249437, PMID:16449815 RGD:6893391 NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437, PMID:16449815 RGD:6893391 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:18693155 RGD:5132274 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Dermatitis, atopic ClinVar PMID:30311386 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
G Cldn1 claudin 1 ISO mRNA,protein:decreased expression:epidermis; DNA:SNPs:intron,promoter :rs17501010,rs9290927,rs893051,rs9290929,rs16865373(human) RGD PMID:21163515 RGD:11344875 NCBI chr11:77,815,216...77,830,373
Ensembl chr11:77,815,181...77,830,416
JBrowse link
G Cldn23 claudin 23 ISO mRNA:decreased expression:epidermis: RGD PMID:21163515 RGD:11344875 NCBI chr16:59,988,603...59,990,327
Ensembl chr16:59,988,603...59,990,326
JBrowse link
G Cma1 chymase 1 ISO DNA:polymorphism:5' utr:g.-1903G>A rs1800875 (human) RGD PMID:16134991 RGD:1625394 NCBI chr15:34,601,037...34,603,819
Ensembl chr15:34,601,037...34,603,819
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:SNP,haplotype:exon,3'UTR:rs3087243,rs231775 (human)
mRNA:increased expression:blood:
RGD PMID:16445777, PMID:22357516 RGD:7411698, RGD:7411700 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Ctse cathepsin E ISS OMIM:603165 MouseDO NCBI chr13:48,426,833...48,449,493
Ensembl chr13:48,426,820...48,449,490
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO protein:increased expression:serum RGD PMID:15131578 RGD:9491761 NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO protein:decreased expression:blood, leukocyte RGD PMID:24821910, PMID:15131578 RGD:9491393, RGD:9491761 NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr  X:71,614,346...71,616,997
Ensembl chr  X:71,614,346...71,616,997
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869817 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Cyp4f39 cytochrome P450, family 4, subfamily f, polypeptide 39 ISO ClinVar Annotator: match by term: Dermatitis, atopic ClinVar PMID:25741868 NCBI chr 7:14,435,024...14,514,960
Ensembl chr 7:14,441,476...14,515,212
JBrowse link
G Emsy EMSY transcriptional repressor, BRCA2 interacting ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 NCBI chr 1:163,541,071...163,618,576
Ensembl chr 1:163,545,326...163,611,299
JBrowse link
G F2 coagulation factor II ISO protein:increased expression:plasma RGD PMID:21488867 RGD:5147756 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa severity ISO protein:increased expression:eosinophil RGD PMID:7564170, PMID:19414806 RGD:5147985, RGD:5508430 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Flg filaggrin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dermatitis, atopic
CTD
ClinVar
PMID:16444271, PMID:16550169, PMID:16815158, PMID:17030239, PMID:18325573, PMID:19349982, PMID:19501237, PMID:19839980, PMID:19874431, PMID:21514438, PMID:22403702, PMID:23042114, PMID:23348739, PMID:23947670, PMID:24033266, PMID:24061166, PMID:25741868 NCBI chr 2:193,565,401...193,574,297 JBrowse link
G Glb1 galactosidase, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion: : RGD PMID:21176116, PMID:20674822 RGD:5490539, RGD:5490981 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism:exon:p.I105V (rs1695) (human) RGD PMID:19842992, PMID:20674822 RGD:5490540, RGD:5490981 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO DNA:deletion, haplotype: : RGD PMID:19842992 RGD:5490540 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO RGD PMID:16159638 RGD:5128852 NCBI chr10:31,813,819...31,860,934
Ensembl chr10:31,813,814...31,848,379
JBrowse link
G Hnmt histamine N-methyltransferase ISO RGD PMID:19025430 RGD:5128889 NCBI chr 3:905,111...937,038
Ensembl chr 3:904,765...937,102
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437, PMID:22101570 RGD:8157618 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Ifnl3 interferon, lambda 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22295096 NCBI chr 1:85,236,243...85,237,775
Ensembl chr 1:85,236,243...85,237,775
JBrowse link
G Il10 interleukin 10 treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437, PMID:23843958 RGD:7364805 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il13 interleukin 13 severity
treatment
ISO DNA:SNPs: :rs3091307, rs20541 (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:exon:4257G>A (human)
DNA, protein:SNP, increased expression:promoter, serum:-1112C>T (human)
CTD PMID:18249437, PMID:22355542, PMID:21913997, PMID:16672002, PMID:17313488, PMID:19006098, PMID:10887320, PMID:23317483 RGD:5684364, RGD:8549583, RGD:8549539, RGD:8549531, RGD:8549529, RGD:8549509 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il13ra1 interleukin 13 receptor subunit alpha 1 ISO mRNA:increased expression:skin RGD PMID:14527737 RGD:8549525 NCBI chr  X:122,724,081...122,783,801
Ensembl chr  X:122,724,129...122,781,479
JBrowse link
G Il13ra2 interleukin 13 receptor subunit alpha 2 ISO protein:increased expression:serum RGD PMID:21462799, PMID:20971924 RGD:8549521, RGD:8549556 NCBI chr  X:118,443,955...118,514,716
Ensembl chr  X:118,443,823...118,513,061
JBrowse link
G Il17a interleukin 17A treatment
severity
ISO protein:increased expression:dermis, lymphocyte (human)
protein:increased expression:epidermis (mouse)
RGD PMID:24337738, PMID:18432274, PMID:22848348 RGD:8698670, RGD:9068436, RGD:9068417 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il18 interleukin 18 severity
no_association
ISO
ISS
protein:increased expression:serum
OMIM:603165
DNA:SNP:promoter:-140C>G (rs360721) (human)
DNA:SNP:promoter:-137G>C (rs187238) (human)
DNA:SNPs, haplotype: :rs795467, rs4937113, rs5744247 (human)
MouseDO PMID:15317323, PMID:22840759, PMID:22840759, PMID:11490156, PMID:17517100 RGD:8655872, RGD:8655914, RGD:8655914, RGD:8655908, RGD:8655876 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il2 interleukin 2 susceptibility ISO associated with food hypersensitivity;
protein:increased expression:CD8+ T cell:
DNA:SNP:promoter:rs2069762(human)
RGD PMID:7547077, PMID:1673687, PMID:16672002, PMID:16333313, PMID:21982597 RGD:8662961, RGD:8693325, RGD:8549583, RGD:8663473, RGD:8663444 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il21r interleukin 21 receptor ISO protein:increased expression:skin RGD PMID:19075398, PMID:19075398 RGD:6892938, RGD:6892938 NCBI chr 1:196,996,405...197,024,185
Ensembl chr 1:196,996,581...197,024,166
JBrowse link
G Il31 interleukin 31 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr12:38,527,575...38,538,086 JBrowse link
G Il33 interleukin 33 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
JBrowse link
G Il4 interleukin 4 ISO DNA:SNP:promoter:-590C>T (human)
CTD Direct Evidence: marker/mechanism
protein:increased expression:serum
CTD PMID:11886533, PMID:12230500, PMID:18249437, PMID:9643293, PMID:8363440 RGD:7829786, RGD:7829795 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il4r interleukin 4 receptor susceptibility ISO DNA:mutation:cds:p.Q576R(human) RGD PMID:9392697 RGD:11530001 NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
JBrowse link
G Il5 interleukin 5 ISO mRNA: increased expression: skin
CTD Direct Evidence: marker/mechanism
CTD PMID:11886533, PMID:18249437, PMID:22299064 RGD:5687175 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Dermatitis, atopic ClinVar NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24046278 NCBI chr16:9,620,854...9,709,342
Ensembl chr16:9,625,177...9,709,347
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:polymorphisms:promoter, exon: RGD PMID:20642202 RGD:8693720 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mc1r melanocortin 1 receptor ISO protein: increased expression: skin RGD PMID:19889022 RGD:5687321 NCBI chr19:56,215,420...56,219,987 JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:27776525 RGD:13204759 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Ms4a2 membrane spanning 4-domains A2 susceptibility ISO Atopy and bronchial hyperresponsiveness, OMIM:147050
Atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:polymorphism:CDS:amino acid E237G
RGD PMID:8817330, PMID:8817330 RGD:1599903, RGD:1599903 NCBI chr 1:227,957,363...227,965,312
Ensembl chr 1:227,957,302...227,965,386
JBrowse link
G Mydgf myeloid-derived growth factor severity ISO protein:increased expression:skin (human) RGD PMID:23657503 RGD:39128244 NCBI chr 9:10,885,521...10,892,744
Ensembl chr 9:10,885,560...10,892,405
JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility
no_association
ISO DNA:polymorphisms: :481C>T, 590G>A(human)
DNA:polymorphisms: :481C>T,590G>A,857G>A(human)
RGD PMID:16224574, PMID:14528063 RGD:8552664, RGD:8552668 NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
JBrowse link
G Nfkbia NFKB inhibitor alpha ISS OMIM:603165 MouseDO NCBI chr 6:76,267,227...76,270,457
Ensembl chr 6:76,267,228...76,270,457
JBrowse link
G Nfkbiz NFKB inhibitor zeta ISS OMIM:603165 MouseDO NCBI chr11:47,243,342...47,271,487
Ensembl chr11:47,243,342...47,271,487
JBrowse link
G Ngf nerve growth factor ISO protein:increased expression:serum: RGD PMID:17073871 RGD:8657069 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
G Ngfr nerve growth factor receptor ISO protein:increased expression:nerve fibers of the papillary dermis (human) RGD PMID:16586073 RGD:5508452 NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO protein:increased expression:eosinophil RGD PMID:18647313, PMID:17223862 RGD:5144116, RGD:5684771 NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
JBrowse link
G Ovol1 ovo like transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 NCBI chr 1:220,927,309...220,938,814
Ensembl chr 1:220,925,605...220,938,814
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO potential therapeutic target with or without glucocorticoid therapy (mouse)
CTD Direct Evidence: marker/mechanism
CTD PMID:18249437, PMID:21633371 RGD:5509940 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Relb RELB proto-oncogene, NF-kB subunit ISO
ISS
OMIM:603165 MouseDO PMID:10940923 RGD:7777149 NCBI chr 1:80,517,081...80,545,019
Ensembl chr 1:80,517,411...80,544,825
JBrowse link
G S100a8 S100 calcium binding protein A8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18336422 NCBI chr 2:190,073,239...190,074,333
Ensembl chr 2:190,073,815...190,074,354
JBrowse link
G Sele selectin E ISO CTD Direct Evidence: marker/mechanism CTD PMID:12410700 NCBI chr13:82,355,234...82,365,323
Ensembl chr13:82,355,471...82,365,341
JBrowse link
G Selp selectin P ISO atopy and bronchial hyperresponsiveness, OMIM:147050 RGD PMID:12929084 RGD:1599904 NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
JBrowse link
G Sharpin SHANK-associated RH domain interactor ISS OMIM:603165 MouseDO NCBI chr 7:117,413,151...117,417,455
Ensembl chr 7:117,413,152...117,417,363
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO CTD Direct Evidence: therapeutic CTD PMID:15306842 NCBI chr 7:70,946,228...70,963,542
Ensembl chr 7:70,946,228...70,964,484
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO GAD
RGD
PMID:15118671, PMID:11496247 RGD:1331525, RGD:7394812 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tlr2 toll-like receptor 2 severity ISO DNA:polymorphism: :-16934A>T(human)
DNA:polymorphism:cds:p.R753Q(human)
RGD PMID:19627277, PMID:22032785, PMID:17531301 RGD:8552997, RGD:8553048, RGD:8552999 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr4 toll-like receptor 4 ISO DNA:polymorphism: :896G>A(human)
mRNA:increased expression:blood cell:
RGD PMID:23821954, PMID:19764566 RGD:7794689, RGD:7794745 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tmem79 transmembrane protein 79 ISS OMIM:603165 MouseDO NCBI chr 2:187,701,522...187,706,452
Ensembl chr 2:187,697,509...187,706,321
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:haplotype:promoter:−308G>A,-238G>A(human) RGD PMID:22533231 RGD:7401246 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfaip6 TNF alpha induced protein 6 ISO mRNA:altered expression:fibroblast RGD PMID:16650051 RGD:7777183 NCBI chr 3:37,545,238...37,564,704
Ensembl chr 3:37,545,238...37,564,699
JBrowse link
G Traf3ip2 Traf3 interacting protein 2 ISS OMIM:603165 MouseDO NCBI chr20:44,679,861...44,722,874
Ensembl chr20:44,680,449...44,722,872
JBrowse link
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISS OMIM:603165 MouseDO NCBI chr10:59,829,755...59,863,780
Ensembl chr10:59,831,241...59,860,987
JBrowse link
G Tslp thymic stromal lymphopoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16880407, PMID:22355542, PMID:23688403, PMID:27869817 NCBI chr18:25,613,601...25,618,066
Ensembl chr18:25,613,831...25,617,361
JBrowse link
G Ttc7a tetratricopeptide repeat domain 7A ISO ClinVar Annotator: match by term: Dermatitis, atopic ClinVar PMID:30311386 NCBI chr 6:10,912,383...11,014,279
Ensembl chr 6:10,912,383...11,014,278
JBrowse link
G Vdr vitamin D receptor severity
no_association
ISO DNA:SNPs, haplotype: :rs731236, rs1544410, rs7975232 (human)
DNA:SNP: :rs2228570 (human)
RGD PMID:23034014, PMID:23034014 RGD:8157625, RGD:8157625 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Vnn1 vanin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19322213 NCBI chr 1:22,614,832...22,625,134
Ensembl chr 1:22,614,783...22,625,204
JBrowse link
G Wasl WASP like actin nucleation promoting factor ISS OMIM:603165 MouseDO NCBI chr 4:51,677,722...51,726,212
Ensembl chr 4:51,677,722...51,726,212
JBrowse link
G Zfp365 zinc finger protein 365 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 NCBI chr20:22,060,160...22,083,766
Ensembl chr20:22,060,224...22,086,108
JBrowse link
atopic dermatitis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flg filaggrin susceptibility ISO ClinVar Annotator: match by term: Dermatitis, atopic, 2
ClinVar Annotator: match by term: Dermatitis, atopic, 2, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:16444271, PMID:16550169, PMID:16815158, PMID:17030239, PMID:17291859, PMID:17417636, PMID:18325573, PMID:19501237, PMID:19785597, PMID:19839980, PMID:19874431, PMID:21377035, PMID:21514438, PMID:22403702, PMID:22995991, PMID:23947670, PMID:24033266, PMID:25741868, PMID:26451970 NCBI chr 2:193,565,401...193,574,297 JBrowse link
atopic dermatitis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Socs3 suppressor of cytokine signaling 3 susceptibility ISO OMIM NCBI chr10:106,973,863...106,976,969
Ensembl chr10:106,975,178...106,976,040
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
AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripk1 receptor interacting serine/threonine kinase 1 ISO ClinVar Annotator: match by term: AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY ClinVar
OMIM
PMID:31827280, PMID:31827281 NCBI chr17:31,537,580...31,569,904
Ensembl chr17:31,537,591...31,569,904
JBrowse link
Autoinflammation with Infantile Enterocolitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpy30 dpy-30 histone methyltransferase complex regulatory subunit ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 6:22,296,128...22,316,894
Ensembl chr 6:22,296,128...22,316,894
JBrowse link
G Memo1 mediator of cell motility 1 ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 6:22,362,483...22,409,583
Ensembl chr 6:22,362,484...22,409,579
JBrowse link
G Nlrc4 NLR family, CARD domain containing 4 ISO ClinVar Annotator: match by OMIM:616050
ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis
ClinVar Annotator: match by term: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS
ClinVar
OMIM
PMID:24033266, PMID:25217959, PMID:25217960, PMID:25385754, PMID:25741868, PMID:27974463, PMID:28492532, PMID:29778503 NCBI chr 6:22,167,874...22,194,755
Ensembl chr 6:22,167,919...22,194,250
JBrowse link
G Slc30a6 solute carrier family 30 member 6 ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 6:22,197,003...22,226,364
Ensembl chr 6:22,197,040...22,226,421
JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 6:22,230,067...22,282,166
Ensembl chr 6:22,230,928...22,281,886
JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 6:25,279,635...25,315,501
Ensembl chr 6:25,279,626...25,315,511
JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
JBrowse link
Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plcg2 phospholipase C, gamma 2 ISO ClinVar Annotator: match by term: Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated
ClinVar Annotator: match by OMIM:614878
OMIM
ClinVar
PMID:23000145, PMID:25741868, PMID:28492532, PMID:30619256 NCBI chr19:50,039,410...50,173,543
Ensembl chr19:50,045,020...50,173,220
JBrowse link
Autoinflammation, Immunde Dysregulation, and Eosinophilia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jak1 Janus kinase 1 ISO ClinVar Annotator: match by term: ATOPIC DERMATITIS, ENTERITIS, COLITIS, AND EOSINOPHILIA OMIM
ClinVar
PMID:20167706, PMID:25356970, PMID:28111307, PMID:32750333 NCBI chr 5:119,982,503...120,091,452
Ensembl chr 5:119,982,943...120,083,904
JBrowse link
autosomal dominant cutis laxa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425
Ensembl chr 1:259,641,676...259,674,425
JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: Cutis Laxa, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cutis laxa, autosomal dominant
ClinVar
CTD
PMID:11175284, PMID:12555228, PMID:16894468, PMID:19029017, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Fbln5 fibulin 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:125,644,797...125,723,957
Ensembl chr 6:125,644,804...125,723,944
JBrowse link
autosomal dominant cutis laxa 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eln elastin ISO ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 1 ClinVar
OMIM
PMID:5046633, PMID:7884000, PMID:8091333, PMID:9215670, PMID:9215671, PMID:9580666, PMID:9873040, PMID:11175284, PMID:15955094, PMID:16085695, PMID:18348261, PMID:19029017, PMID:19282817, PMID:19593948, PMID:21309044, PMID:23049958, PMID:23401415, PMID:24033266, PMID:25741868, PMID:28391405, PMID:28492532, PMID:30311386 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 1 ClinVar PMID:12618961 NCBI chr 6:125,644,797...125,723,957
Ensembl chr 6:125,644,804...125,723,944
JBrowse link
autosomal dominant cutis laxa 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by This custom term has been created by RGD curators. OMIM
ClinVar
PMID:12618961 NCBI chr 6:125,644,797...125,723,957
Ensembl chr 6:125,644,804...125,723,944
JBrowse link
autosomal dominant cutis laxa 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 3 OMIM
ClinVar
PMID:8779323, PMID:9643297, PMID:24913064, PMID:25741868, PMID:26026163, PMID:26297558, PMID:26320891, PMID:28492532 NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425
Ensembl chr 1:259,641,676...259,674,425
JBrowse link
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 familial periodic fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS)
ClinVar Annotator: match by OMIM:142680
OMIM
ClinVar
PMID:1402641, PMID:6635178, PMID:7156325, PMID:9529351, PMID:9585614, PMID:10199409, PMID:10902757, PMID:11175303, PMID:11443543, PMID:11722598, PMID:11817598, PMID:12209523, PMID:12352631, PMID:12520003, PMID:12905494, PMID:13130484, PMID:14610673, PMID:15216558, PMID:15280569, PMID:15492850, PMID:16508982, PMID:16635178, PMID:16684962, PMID:18180277, PMID:18408954, PMID:18512793, PMID:19917181, PMID:20576331, PMID:21029567, PMID:21420073, PMID:22311714, PMID:22801493, PMID:22918594, PMID:23322460, PMID:23745996, PMID:23965844, PMID:24033266, PMID:24064022, PMID:24393624, PMID:25326637, PMID:25387410, PMID:25637003, PMID:25741868, PMID:25936627, PMID:26299986, PMID:26598380, PMID:26821543, PMID:26965498, PMID:26992170, PMID:27068928, PMID:28427379, PMID:28492532 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISO OMIM NCBI chr10:59,829,755...59,863,780
Ensembl chr10:59,831,241...59,860,987
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 Annotator: match by term: Autosomal recessive congenital ichthyosis
ClinVar PMID:15756637, PMID:17508018, PMID:19262603, PMID:20849526, PMID:25741868, PMID:28492532 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 Sdr9c7 short chain dehydrogenase/reductase family 9C, member 7 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis ClinVar PMID:25741868 NCBI chr 7:71,152,366...71,169,510
Ensembl chr 7:71,157,664...71,170,511
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: 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 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: Autosomal recessive congenital ichthyosis 4B
ClinVar Annotator: match by term: Ichthyosis congenita, Harlequin fetus type
ClinVar Annotator: match by OMIM:242500
OMIM
ClinVar
PMID:15756637, PMID:16902423, PMID:19664001, PMID:21270786, PMID:21716271, PMID:23698643, PMID:25741868, PMID:25974703, PMID:27981572 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 Cutis Laxa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: Cutis laxa, recessive ClinVar NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425
Ensembl chr 1:259,641,676...259,674,425
JBrowse link
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: Cutis laxa, recessive ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr12:37,368,321...37,398,233
Ensembl chr12:37,363,906...37,425,596
JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Cutis laxa, recessive ClinVar NCBI chr 1:220,853,695...220,861,420
Ensembl chr 1:220,854,403...220,861,420
JBrowse link
G Fbln5 fibulin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12189163 NCBI chr 6:125,644,797...125,723,957
Ensembl chr 6:125,644,804...125,723,944
JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Cutis laxa, recessive ClinVar NCBI chr 1:220,862,474...220,867,973
Ensembl chr 1:220,862,386...220,867,815
JBrowse link
G Pycr1 pyrroline-5-carboxylate reductase 1 ISO ClinVar Annotator: match by term: Cutis laxa, recessive ClinVar NCBI chr10:109,817,300...109,822,218
Ensembl chr10:109,818,177...109,821,807
JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Cutis laxa, recessive ClinVar PMID:25741868, PMID:28492532 NCBI chr12:37,400,896...37,427,256
Ensembl chr12:37,363,906...37,425,596
JBrowse link
autosomal recessive cutis laxa type IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Autosomal recessive cutis laxa type IA ClinVar PMID:8985490, PMID:15776121, PMID:16685658, PMID:17937443, PMID:19664000, PMID:20389311, PMID:22943132, PMID:23532871, PMID:24033266, PMID:25741868 NCBI chr 1:220,853,695...220,861,420
Ensembl chr 1:220,854,403...220,861,420
JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Autosomal recessive cutis laxa type IA
ClinVar Annotator: match by OMIM:219100
OMIM
ClinVar
PMID:3232707, PMID:12189163, PMID:16374472, PMID:17035250, PMID:18185537, PMID:20599547, PMID:21576112, PMID:22829427, PMID:28492532 NCBI chr 6:125,644,797...125,723,957
Ensembl chr 6:125,644,804...125,723,944
JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Autosomal recessive cutis laxa type IA ClinVar PMID:15776121, PMID:20389311 NCBI chr 1:220,862,474...220,867,973
Ensembl chr 1:220,862,386...220,867,815
JBrowse link
autosomal recessive cutis laxa type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,322,854...220,325,076
Ensembl chr 1:220,416,018...220,418,240
JBrowse link
G Banf1 BAF nuclear assembly factor 1 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,744,195...220,746,224
Ensembl chr 1:220,744,195...220,746,224
JBrowse link
G Bles03 basophilic leukemia expressed protein BLES03 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,806,563...220,808,817
Ensembl chr 1:220,806,473...220,808,804
JBrowse link
G Brms1 BRMS1, transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,325,352...220,334,616 JBrowse link
G Catsper1 cation channel, sperm associated 1 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,715,000...220,724,235
Ensembl chr 1:220,714,995...220,719,939
JBrowse link
G Ccdc85b coiled-coil domain containing 85B ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,835,647...220,837,220 JBrowse link
G Cd248 CD248 molecule ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,353,308...220,355,872
Ensembl chr 1:220,446,425...220,448,989
JBrowse link
G Cnih2 cornichon family AMPA receptor auxiliary protein 2 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,474,485...220,480,723
Ensembl chr 1:220,474,493...220,480,132
JBrowse link
G Cst6 cystatin E/M ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,727,292...220,729,000
Ensembl chr 1:220,727,292...220,729,000
JBrowse link
G Ctsw cathepsin W ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,844,579...220,847,967
Ensembl chr 1:220,844,558...220,848,153
JBrowse link
G Drap1 Dr1 associated protein 1 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,803,783...220,806,480
Ensembl chr 1:220,803,796...220,806,433
JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Autosomal recessive cutis laxa type 1B
ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
ClinVar Annotator: match by OMIM:614437
OMIM
ClinVar
PMID:2038931, PMID:8985490, PMID:15776121, PMID:16685658, PMID:17937443, PMID:19664000, PMID:20389311, PMID:22943132, PMID:23532871, PMID:24033266, PMID:25741868, PMID:26017485, PMID:27339457, PMID:28454995, PMID:28492532, PMID:29620724 NCBI chr 1:220,853,695...220,861,420
Ensembl chr 1:220,854,403...220,861,420
JBrowse link
G Eif1ad eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,746,387...220,751,687
Ensembl chr 1:220,746,387...220,751,684
JBrowse link
G Fibp FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,840,078...220,844,412
Ensembl chr 1:220,840,118...220,844,405
JBrowse link
G Fosl1 FOS like 1, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,826,560...220,835,066
Ensembl chr 1:220,826,560...220,835,066
JBrowse link
G Gal3st3 galactose-3-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,668,544...220,678,300
Ensembl chr 1:220,668,544...220,678,299
JBrowse link
G Klc2 kinesin light chain 2 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,492,174...220,502,397
Ensembl chr 1:220,492,176...220,502,272
JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
ClinVar Annotator: match by term: Autosomal recessive cutis laxa type 1B
ClinVar PMID:15776121, PMID:20389311, PMID:25741868, PMID:28492532 NCBI chr 1:220,862,474...220,867,973
Ensembl chr 1:220,862,386...220,867,815
JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,515,117...220,645,611
Ensembl chr 1:220,516,316...220,644,636
JBrowse link
G Rab1b RAB1B, member RAS oncogene family ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,483,529...220,491,469
Ensembl chr 1:220,480,834...220,491,469
JBrowse link
G Rin1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,335,036...220,342,319
Ensembl chr 1:220,335,254...220,342,297
JBrowse link
G Sart1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,762,496...220,771,158
Ensembl chr 1:220,762,349...220,771,181
JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,645,685...220,665,611
Ensembl chr 1:220,645,672...220,665,603
JBrowse link
G Tmem151a transmembrane protein 151A ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,373,288...220,378,080
Ensembl chr 1:220,373,290...220,467,159
JBrowse link
G Tsga10ip testis specific 10 interacting protein ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,772,592...220,786,952
Ensembl chr 1:220,772,411...220,787,238
JBrowse link
G Yif1a Yip1 interacting factor homolog A, membrane trafficking protein ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,470,070...220,474,131
Ensembl chr 1:220,470,089...220,474,496
JBrowse link
autosomal recessive cutis laxa type IC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp4 latent transforming growth factor beta binding protein 4 ISO ClinVar Annotator: match by term: Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
ClinVar Annotator: match by OMIM:613177
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:19836010, PMID:22829427, PMID:23440719, PMID:24033266, PMID:25741868, PMID:28492532, PMID:31115174 NCBI chr 1:84,118,046...84,152,095
Ensembl chr 1:84,118,046...84,150,084
JBrowse link
autosomal recessive cutis laxa type IIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: Cutis laxa with osteodystrophy
ClinVar Annotator: match by term: CUTIS LAXA WITH CONGENITAL DISORDER OF GLYCOSYLATION
ClinVar Annotator: match by OMIM:219200
OMIM
ClinVar
PMID:15657616, PMID:18157129, PMID:22773132, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr12:37,368,321...37,398,233
Ensembl chr12:37,363,906...37,425,596
JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Cutis laxa with osteodystrophy ClinVar PMID:25741868 NCBI chr12:37,400,896...37,427,256
Ensembl chr12:37,363,906...37,425,596
JBrowse link
autosomal recessive cutis laxa type IIB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pycr1 pyrroline-5-carboxylate reductase 1 ISO ClinVar Annotator: match by term: Autosomal recessive cutis laxa type 2B
ClinVar Annotator: match by term: CUTIS LAXA WITH PROGEROID FEATURES
ClinVar Annotator: match by OMIM:612940
OMIM
ClinVar
PMID:11424136, PMID:16045708, PMID:18304158, PMID:18348262, PMID:19576563, PMID:19648921, PMID:22052856, PMID:24035636, PMID:25741868, PMID:25741869, PMID:26516448, PMID:28492532, PMID:32860008 NCBI chr10:109,817,300...109,822,218
Ensembl chr10:109,818,177...109,821,807
JBrowse link
autosomal recessive cutis laxa type IIC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1e1 ATPase H+ transporting V1 subunit E1 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC ClinVar
OMIM
PMID:27023906, PMID:28065471 NCBI chr 4:153,351,434...153,373,558
Ensembl chr 4:153,351,421...153,373,649
JBrowse link
autosomal recessive cutis laxa type IID term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1a ATPase H+ transporting V1 subunit A ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID ClinVar
OMIM
PMID:24459010, PMID:28065471 NCBI chr11:61,531,386...61,584,634
Ensembl chr11:61,531,416...61,584,634
JBrowse link
autosomal recessive cutis laxa type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO DNA:deletions:cds:
ClinVar Annotator: match by term: Progeroid syndrome of De Barsy
DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human)
ClinVar PMID:28492532, PMID:24913064, PMID:26320891 RGD:13434922, RGD:13434923 NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425
Ensembl chr 1:259,641,676...259,674,425
JBrowse link
autosomal recessive cutis laxa type IIIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO DNA:mutations:cds:c.2246G>A(p.R749Q),c.2294G>A(p.R765Q)(human)
ClinVar Annotator: match by term: Cutis laxa-corneal clouding-oligophrenia syndrome
ClinVar Annotator: match by term: DE BARSY SYNDROME A
ClinVar
OMIM
PMID:8779323, PMID:11092761, PMID:18478038, PMID:21739576, PMID:24767728, PMID:24913064, PMID:25326637, PMID:25741868, PMID:26026163, PMID:26297558, PMID:26320891, PMID:28492532, PMID:25077174 RGD:13439710 NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425
Ensembl chr 1:259,641,676...259,674,425
JBrowse link
autosomal recessive cutis laxa type IIIB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pycr1 pyrroline-5-carboxylate reductase 1 ISO ClinVar Annotator: match by term: DE BARSY SYNDROME B
ClinVar Annotator: match by OMIM:614438
OMIM
ClinVar
PMID:4076251, PMID:18348262, PMID:19648921, PMID:22052856, PMID:25741868 NCBI chr10:109,817,300...109,822,218
Ensembl chr10:109,818,177...109,821,807
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
Bart-Pumphrey 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 ClinVar Annotator: match by term: Bart-Pumphrey syndrome
ClinVar Annotator: match by term: KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
ClinVar Annotator: match by OMIM:149200
DNA:mutation:cds:p.N54K(human)
OMIM
ClinVar
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: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:12560944, PMID:12562518, PMID:12684873, PMID:12746422, 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: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:15656949, PMID:15666300, PMID:15700112, PMID:15855033, PMID:15952212, 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:16950989, PMID:16952406, PMID:17018967, PMID:17036313, PMID:17041943, PMID:17146393, PMID:17253936, PMID:17331080, PMID:17357124, PMID:17406097, PMID:17426645, PMID:17428550, PMID:17485979, PMID:17553572, PMID:17581693, PMID:17661817, PMID:17666888, PMID:17935238, PMID:17993581, PMID:18294064, PMID:18414213, PMID:18560174, PMID:18570691, PMID:18684989, PMID:18776652, PMID:18804553, 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: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:21465647, PMID:21468573, PMID:21481246, PMID:21488715, PMID:21728791, PMID:21776002, PMID:21811586, PMID:21815880, PMID:21910243, PMID:21962949, PMID:22000900, PMID:22011219, 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: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:27153395, PMID:27177978, PMID:27224056, PMID:27466889, PMID:27480936, PMID:27481527, PMID:27501294, PMID:27623246, 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:30989077, PMID:31160754, PMID:163800907, PMID:15482471 RGD:7364821 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
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
Basaran Yilmaz Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
Behcet's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A ISO DNA:missense mutation, snps, haplotypes:exons:p.S893A/T, p.G412G, p.I1145I (human) RGD PMID:22705826 RGD:8657073 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Ace angiotensin I converting enzyme susceptibility
no_association
ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:15961928, PMID:15045629 RGD:7829810, RGD:8142349 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21044750 RGD:8694430 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25045206 NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
JBrowse link
G Apoa1 apolipoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Cat catalase ISO protein:decreased activity:erythrocyte:
CTD Direct Evidence: marker/mechanism
CTD PMID:12074830, PMID:17206395 RGD:9068907 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 susceptibility ISO DNA:snp:promoter:g.-2518A>G (human)
protein:increased expression:plasma (human)
RGD PMID:19782713, PMID:12712358 RGD:8548882, RGD:8549488 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 no_association ISO protein:increased expression:blood, T cell (human)
DNA:frameshift mutation: :p.S185_T195del (rs333) (human)
RGD PMID:15501397, PMID:15009175, PMID:17067435 RGD:4892106, RGD:8551827, RGD:8551814 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:plasma RGD PMID:22116092 RGD:8547820 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cfb complement factor B ISO RGD PMID:6900632 RGD:7411737 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Cpb2 carboxypeptidase B2 ISO RGD PMID:15668188 RGD:1598474 NCBI chr15:57,290,849...57,339,762
Ensembl chr15:57,290,849...57,339,760
JBrowse link
G Crp C-reactive protein ISO protein:increased expression:plasma,erythrocyte: RGD PMID:12180795 RGD:9491757 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO DNA:SNPs: :1661A>G,49C>A(human) RGD PMID:19563524 RGD:7411682 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO DNA:SNPs: :4889A>G, 4887C>A (human) RGD PMID:15088300 RGD:8552789 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:9132327 RGD:8661801 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr 2:1,410,877...1,449,734
Ensembl chr 2:1,410,934...1,449,733
JBrowse link
G F5 coagulation factor V no_association ISO DNA:mutation: :1691G>A (human) RGD PMID:15077257 RGD:7394769 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Fas Fas cell surface death receptor severity ISO protein:increased expression:serum (human) RGD PMID:9836498 RGD:8662438 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa susceptibility ISO DNA:SNP:exon:p.F158V (rs396991)(human) RGD PMID:19026120 RGD:5508432 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
JBrowse link
G Hmox1 heme oxygenase 1 ISO mRNA:decreased expression:mononulcear cell: RGD PMID:18234118 RGD:7777175 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Icam1 intercellular adhesion molecule 1 susceptibility
no_association
ISO DNA:polymorphism: :p.K469E (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:exon:p.R241G (human)
CTD PMID:8712863, PMID:12074830, PMID:12808331, PMID:11409120, PMID:10792421 RGD:8158115, RGD:8547575, RGD:8158123 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Ifng interferon gamma ISO associated with Uveitis; protein:increased expression:aqueous humor:
protein:increased expression:serum:
RGD PMID:21334264, PMID:2154346 RGD:8142356, RGD:8142377 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO DNA:missense mutation:cds:1217A>T(D406V)(human) RGD PMID:20412081 RGD:12791269 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link
G Il10 interleukin 10 disease_progression
onset
susceptibility
treatment
ISO DNA, protein:hypermethylation, decreased expression:promoter, serum
DNA:SNP:promoter:-592A>C (rs1800872) (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:20622878, PMID:20622879, PMID:15980236, PMID:26654556, PMID:29719061, PMID:29294320, PMID:21506890 RGD:1598628, RGD:14975256, RGD:14975149, RGD:14975131, RGD:7364843 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:plasma (human) RGD PMID:21455110 RGD:8698672 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il18 interleukin 18 susceptibility
no_association
ISO DNA:SNPs:promoter:-1297T>C (rs360719), -137G>C (rs187238) (human)
DNA:SNP, haplotype:promoter:-607C>A (rs1946518) (human)
DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)
RGD PMID:14727452, PMID:15234532, PMID:21532063, PMID:16273766, PMID:17055358 RGD:4889844, RGD:8655927, RGD:8655926, RGD:8655910, RGD:8655897 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il18r1 interleukin 18 receptor 1 ISO ClinVar Annotator: match by term: Behcet's syndrome ClinVar PMID:25741868 NCBI chr 9:47,184,404...47,217,403
Ensembl chr 9:47,185,443...47,219,175
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il2 interleukin 2 ISO DNA:polymorphism:promoter (human) RGD PMID:21640045 RGD:5147902 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il21r interleukin 21 receptor ISO RGD PMID:21724243 RGD:6892926 NCBI chr 1:196,996,405...197,024,185
Ensembl chr 1:196,996,581...197,024,166
JBrowse link
G Il23r interleukin 23 receptor susceptibility ISO DNA:SNP: :rs1884444(human)
DNA:SNPs,haplotype::rs17375018, rs11209032(human);
RGD PMID:22483685, PMID:20375120 RGD:8549550, RGD:8549565 NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
JBrowse link
G Il4 interleukin 4 ISO DNA:polymorphisms:promoter:-33T>C (human) RGD PMID:21640045 RGD:5147902 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il6 interleukin 6 ISO protein:increased secretion:monocyte: RGD PMID:8164212 RGD:7829752 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Itga2 integrin subunit alpha 2 susceptibility ISO RGD PMID:12412731 RGD:1582300 NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
JBrowse link
G Itgal integrin subunit alpha L ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr 1:198,744,053...198,781,745
Ensembl chr 1:198,744,050...198,781,750
JBrowse link
G Itgb2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
JBrowse link
G Mbl2 mannose binding lectin 2 severity
susceptibility
ISO protein:decreased secretion:serum (human)
DNA:polymorphisms:5' utr, exon:multiple (human)
RGD PMID:15693089, PMID:15730518 RGD:1582155, RGD:1582154 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mefv MEFV innate immuity regulator, pyrin ISO ClinVar Annotator: match by term: Behcet's syndrome ClinVar PMID:25741868 NCBI chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311
JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:peripheral blood mononuclear cell RGD PMID:30366049, PMID:27156371 RGD:21409751, RGD:25671481 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:17949555 RGD:8657044 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:plasma, platelets RGD PMID:22116092, PMID:17949555 RGD:8547820, RGD:8657044 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphisms: : RGD PMID:15663505 RGD:8552650 NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 susceptibility
no_association
ISO DNA:snp, insertion:exons:p.R702W, p.L1007insC (human)
ClinVar Annotator: match by term: Behcet's syndrome
DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human)
ClinVar PMID:28492532, PMID:19748964, PMID:15515785 RGD:8158059, RGD:13204711 NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility
no_association
ISO DNA:snp:cds:p.E298D (human)
DNA:duplication:intron:g.IVS4?-?+27 (human)
DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human)
RGD PMID:11908569, PMID:21957880, PMID:15705632, PMID:16463158 RGD:7771576, RGD:7775050, RGD:7775048, RGD:7771577 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:15377545 RGD:8547573 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Proz protein Z, vitamin K-dependent plasma glycoprotein ISO RGD PMID:14507116 RGD:1580692 NCBI chr16:81,784,348...81,797,889
Ensembl chr16:81,784,348...81,797,815
JBrowse link
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 ISO ClinVar Annotator: match by term: Behcet's syndrome ClinVar PMID:28492532 NCBI chr 8:60,760,040...60,799,364
Ensembl chr 8:60,760,078...60,799,361
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 no_association ISO DNA:SNPs: :rs2488457, rs1310182, rs3789604 (human) RGD PMID:17660222, PMID:22396730 RGD:6484733, RGD:7829745 NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms:cds:multiple (human) RGD PMID:23396137 RGD:7483565 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 no_association
disease_progression
ISO DNA:polymorphisms:cds:HLA-B*51 (human)
severe disease; DNA:polymorphisms:cds:HLA-B*51 (human, Turkish)
DNA:polymorphisms:cds:HLA-B*15 (human)
RGD PMID:16101830, PMID:11426025, PMID:12622781 RGD:7364873, RGD:7364939, RGD:7364918
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: :DRB1*0802(human) RGD PMID:1358857 RGD:7365104 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G RT1-DMa RT1 class II, locus DMa no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr20:3,935,512...3,938,915
Ensembl chr20:5,240,975...5,244,386
JBrowse link
G RT1-DMb RT1 class II, locus DMb no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr20:3,945,383...3,952,838
Ensembl chr20:5,227,045...5,234,290
JBrowse link
G RT1-M5 RT1 class Ib, locus M5 ISO DNA:polymorphisms:cds:HLA-B*51 (human, Turkish) RGD PMID:11426025 RGD:7364939 NCBI chr20:2,038,158...2,040,422
Ensembl chr20:2,038,158...2,040,422
JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:serum (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:12074830, PMID:18341631 RGD:8547693 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:polymorphism:intron (human) RGD PMID:18998137 RGD:5684936 NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
JBrowse link
G Sod1 superoxide dismutase 1 ISO protein:increased activity:serum (human) RGD PMID:12458889 RGD:1580846 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Stat3 signal transducer and activator of transcription 3 no_association ISO DNA:SNP: :rs2293152 (human)
DNA:SNP: :rs744166, rs2293152 (human)
RGD PMID:22205606, PMID:23127549 RGD:6483021, RGD:8694309 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO DNA:SNP: :rs7574865 (human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs: :rs897200, rs7572482, rs7574070 (human)
CTD PMID:23291587, PMID:20438790, PMID:23001997 RGD:8661713, RGD:8661718 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO DNA:polymorphism:promoter:exon (human) RGD PMID:21640045 RGD:5147902 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tlr2 toll-like receptor 2 no_association
susceptibility
ISO protein,mRNA:increased expression:peripheral blood mononuclear cell
mRNA:increased expression:intestine:
DNA:polymorphism: :12408G>A(human)
DNA:SNPs: : rs2289318,rs3804099(human)
RGD PMID:23908180, PMID:18336589, PMID:19796535, PMID:24255044 RGD:8552883, RGD:8552915, RGD:8552888, RGD:8552885 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr3 toll-like receptor 3 ISO protein,mRNA:increased expression:peripheral blood mononuclear cell RGD PMID:23908180 RGD:8552883 NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
JBrowse link
G Tlr4 toll-like receptor 4 no_association
susceptibility
ISO mRNA:increased expression:mononulcear cell:
mRNA:increased expression:intestine:
DNA:polymorphism: :1896A>G,11196C>T(human)
DNA:SNP:3'UTR: rs7037117(human)
RGD PMID:18234118, PMID:18336589, PMID:19796535, PMID:18408113 RGD:7777175, RGD:8552915, RGD:8552888, RGD:7777176 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tnf tumor necrosis factor no_association ISO DNA:SNP:promoter:-308G>A (human)
DNA:SNPs:promoter:-308G>A, -238G>A, -376G>A (human)
associated with Uveitis;protein:increased expression:aqueous humor:
protein:increased expression:serum
RGD PMID:20601837, PMID:12770792, PMID:15875188, PMID:12632436, PMID:21334264, PMID:14600787 RGD:7394759, RGD:12904048, RGD:12904040, RGD:12904036, RGD:8142356, RGD:7401213 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO protein:increased expression:serum
ClinVar Annotator: match by term: Behcet's syndrome
ClinVar PMID:28492532, PMID:14600787 RGD:7401213 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Vdr vitamin D receptor no_association ISO DNA:SNP:exon:rs2228570 (human)
DNA:SNP: :rs1544410 (human)
RGD PMID:21820934, PMID:21820934 RGD:8158077, RGD:8158077 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:serum RGD PMID:15257411 RGD:8655578 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Vim vimentin ISO RGD PMID:3780056 RGD:6480476 NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:15849757 RGD:1580642 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
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
Bothnian type palmoplantar keratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp5 aquaporin 5 ISO ClinVar Annotator: match by null OMIM
ClinVar
PMID:7531539, PMID:23830519 NCBI chr 7:141,249,044...141,252,576
Ensembl chr 7:141,249,044...141,252,578
JBrowse link