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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:vitiligo
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Accession:DOID:12306 term browser browse the term
Definition:An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes. (DO)
Synonyms:exact_synonym: SLEV1;   VTLG;   vitiligo-related systemic lupus erythematosus
 related_synonym: AIS1;   AIS2;   AIS3;   AIS4;   AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 1p-RELATED;   AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 4-RELATED;   AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 7-RELATED;   AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 8-RELATED;   Autoimmune Disease, Susceptibility To, 1;   Autoimmune Disease, Susceptibility To, 2;   Autoimmune Disease, Susceptibility To, 3;   Autoimmune Disease, Susceptibility To, 4;   VAMAS1;   VAMAS2;   VAMAS3;   VAMAS4;   VAMAS5;   VAMAS6;   Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1;   Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 2;   Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 3;   Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 4;   Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 5;   Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
 primary_id: MESH:D014820
 alt_id: MIM:193200;   MIM:606579;   MIM:607836;   MIM:608391;   MIM:608392;   MIM:609400
 xref: EFO:0004208;   GARD:10751;   ICD10CM:L80;   ICD9CM:709.01;   NCI:C26915
For additional species annotation, visit the Alliance of Genome Resources.

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vitiligo term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bach2 BTB domain and CNC homolog 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chrNW_004936510:2,041,004...2,375,215
Ensembl chrNW_004936510:2,299,831...2,371,544 		JBrowse link
G C3 complement C3 ISO RGD PMID:12121667 RGD:7401277 NCBI chrNW_004936588:3,985,732...4,023,221 JBrowse link
G Casp7 caspase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chrNW_004936486:4,082,664...4,114,942
Ensembl chrNW_004936486:4,088,372...4,114,955 		JBrowse link
G Cat catalase no_association
susceptibility		 ISO DNA:SNPs:promoter,exon: -89A>T rs7943316), 389C>T (rs769217)(human)
protein:decreased activity:skin:
DNA:SNP,haplotype:promoter,cds:-89A>T,389C>T(human)		 RGD PMID:19439879 PMID:20613769 PMID:23868633 RGD:9479149 RGD:9479150 RGD:9479169 NCBI chrNW_004936533:3,601,270...3,637,128
Ensembl chrNW_004936533:3,600,955...3,637,422 		JBrowse link
G Ccr6 C-C motif chemokine receptor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20526340 NCBI chrNW_004936489:16,669,297...16,689,451
Ensembl chrNW_004936489:16,669,297...16,689,451 		JBrowse link
G Cd44 CD44 molecule (IN blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chrNW_004936533:2,949,026...3,033,166 JBrowse link
G Cd80 CD80 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chrNW_004936536:6,462,080...6,483,450 JBrowse link
G Clnk cytokine dependent hematopoietic cell linker ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chrNW_004936477:16,364,465...16,427,125
Ensembl chrNW_004936477:16,280,978...16,427,110 		JBrowse link
G Clu clusterin ISO RGD PMID:7558712 RGD:8699503 NCBI chrNW_004936675:499,745...513,515
Ensembl chrNW_004936675:499,199...513,836 		JBrowse link
G Comt catechol-O-methyltransferase no_association ISO DNA:polymorphism: :p.V158M (human) RGD PMID:19112571 PMID:24915010 RGD:8662333 RGD:8662336 NCBI chrNW_004936619:3,847,059...3,883,866
Ensembl chrNW_004936619:3,876,299...3,882,747 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 susceptibility
no_association		 ISO DNA:SNP:3'UTR:rs3087243(human)
associated with Autoimmune Diseases;DNA:polymorphisms: :
DNA:SNP:exon:+49A>G rs231775)(human)
DNA:SNPs:multiple:		 RGD PMID:15649153 PMID:18200060 PMID:19129082 PMID:21794098 RGD:7411687 RGD:7411696 RGD:7411697 RGD:7411699 NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643 		JBrowse link
G Esr1 estrogen receptor 1 susceptibility
no_association		 ISO DNA:SNP:intron
DNA:SNP:exon		 RGD PMID:15381239 RGD:8552976 NCBI chrNW_004936489:4,616,839...4,887,179
Ensembl chrNW_004936489:4,614,754...4,887,171 		JBrowse link
G Foxd3 forkhead box D3 susceptibility ISO ClinVar Annotator: match by term: Autoimmune disease, susceptibility to, 1 OMIM
ClinVar		 PMID:16098053 NCBI chrNW_004936692:951,394...953,612
Ensembl chrNW_004936692:951,562...953,001 		JBrowse link
G Foxp1 forkhead box P1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20526340 NCBI chrNW_004936603:2,631,781...3,146,104
Ensembl chrNW_004936603:2,632,274...2,830,324 		JBrowse link
G Hgf hepatocyte growth factor treatment ISO RGD PMID:16117796 RGD:8548598 NCBI chrNW_004936734:354,798...428,356
Ensembl chrNW_004936734:356,115...428,779 		JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chrNW_004936469:16,721,306...16,778,249
Ensembl chrNW_004936469:16,721,677...16,774,903 		JBrowse link
G Ifng interferon gamma onset
susceptibility		 ISO DNA:polymorphism:intron:rs2430561(human)
DNA:repeats:intron:rs3138557(human)		 RGD PMID:23777204 RGD:8157616 NCBI chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452 		JBrowse link
G Ikzf4 IKAROS family zinc finger 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chrNW_004936646:417,565...449,021
Ensembl chrNW_004936646:429,833...449,021 		JBrowse link
G Il13 interleukin 13 treatment ISO RGD PMID:23680073 RGD:8549591 NCBI chrNW_004936647:2,529,933...2,532,503
Ensembl chrNW_004936647:2,530,491...2,532,373 		JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:serum: RGD PMID:22342018 RGD:8663475 NCBI chrNW_004936476:8,621,860...8,625,008
Ensembl chrNW_004936476:8,621,860...8,625,008 		JBrowse link
G Il1a interleukin 1 alpha ISO protein:increased expression:skin
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:16911396 PMID:28836394 RGD:7794736 NCBI chrNW_004936783:1,210,715...1,218,315
Ensembl chrNW_004936783:1,210,809...1,218,315 		JBrowse link
G Il2 interleukin 2 ISO protein:increased expression:serum: RGD PMID:22342018 RGD:8663475 NCBI chrNW_004936662:1,594,953...1,599,625
Ensembl chrNW_004936662:1,594,953...1,599,625 		JBrowse link
G Itk IL2 inducible T cell kinase ISO ClinVar Annotator: match by term: Vitiligo-associated multiple autoimmune disease susceptibility 1 ClinVar PMID:28492532 PMID:32628964 PMID:32888943 NCBI chrNW_004936515:5,891,873...5,952,400
Ensembl chrNW_004936515:5,891,828...5,952,458 		JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Vitiligo ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936623:4,091,093...4,222,510
Ensembl chrNW_004936623:4,091,190...4,218,251 		JBrowse link
G LOC101956126 heat shock 70 kDa protein 1 treatment ISO RGD PMID:23447019 RGD:8662840 NCBI chrNW_004936727:1,732,323...1,735,128 JBrowse link
G LOC101975827 complement C4-A ISO associated with Graves Disease RGD PMID:21943165 RGD:5688264 NCBI chrNW_004936727:1,556,204...1,570,084 JBrowse link
G Mc1r melanocortin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chrNW_004936641:193,885...198,730 JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28836394 NCBI chrNW_004936509:6,589,967...6,621,171
Ensembl chrNW_004936509:6,590,630...6,620,262 		JBrowse link
G Nlrp1 NLR family pyrin domain containing 1 susceptibility ISO ClinVar Annotator: match by term: Vitiligo-associated multiple autoimmune disease susceptibility 1 ClinVar
OMIM		 PMID:17377159 PMID:25741868 PMID:27662089 PMID:28492532 NCBI chrNW_004936677:2,248,153...2,290,802
Ensembl chrNW_004936677:2,248,903...2,289,151 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28836394 NCBI chrNW_004936480:1,188,408...1,273,210
Ensembl chrNW_004936480:1,188,183...1,273,537 		JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:14551602 RGD:1578358 NCBI chrNW_004936476:25,894,313...25,899,132
Ensembl chrNW_004936476:25,894,027...25,899,319 		JBrowse link
G Ptpn22 protein tyrosine phosphatase non-receptor type 22 ISO DNA: snp : cds: rs2476601
DNA:polymorphism: :1858C>T (p.R620W) (human)		 RGD PMID:16015369 PMID:18426414 RGD:6484552 RGD:7829737 NCBI chrNW_004936690:2,180,804...2,232,869
Ensembl chrNW_004936690:2,181,047...2,232,958 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chrNW_004936558:4,103,898...4,126,883
Ensembl chrNW_004936558:4,104,534...4,123,869 		JBrowse link
G Sla Src like adaptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chrNW_004936470:16,232,614...16,264,982
Ensembl chrNW_004936470:16,232,602...16,264,982 		JBrowse link
G Sod2 superoxide dismutase 2 disease_progression ISO DNA, mRNA, protein:SNPs, increased expression:cds:p.L84F (rs11575993), p.T58I (rs35289490), skin, leukocyte (human) RGD PMID:24036105 RGD:8547522 NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781 		JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO protein:decreased expression:serum: RGD PMID:22342018 RGD:8663475 NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272 		JBrowse link
G Tlr2 toll like receptor 2 susceptibility ISO DNA:polymorphism:exon:p.R753Q(human) RGD PMID:22429552 RGD:7777152 NCBI chrNW_004936576:522,234...531,660
Ensembl chrNW_004936576:527,434...529,788 		JBrowse link
G Tlr4 toll like receptor 4 susceptibility ISO DNA:polymorphism:exon:p.D299G(human) RGD PMID:22429552 RGD:7777152 NCBI chrNW_004936487:6,519,140...6,532,018
Ensembl chrNW_004936487:6,518,441...6,533,095 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:skin
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:16911396 PMID:28836394 RGD:7794736 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		JBrowse link
G Tob2 transducer of ERBB2, 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chrNW_004936492:467,221...477,838 JBrowse link
G Tyr tyrosinase severity ISO RGD PMID:8697641 PMID:22834951 RGD:8694387 RGD:8694409 NCBI chrNW_004936736:421,623...519,085
Ensembl chrNW_004936736:421,598...519,253 		JBrowse link
G Vdr vitamin D receptor no_association ISO DNA:SNPs: :rs731236, rs1544410, rs7975232 (human)
DNA:SNP:exon:rs2228570 (human)
DNA:SNPs, haplotype: :multiple		 RGD PMID:22738935 PMID:22762534 RGD:8158061 RGD:8158066 NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109 		JBrowse link
hereditary spastic paraplegia 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dstyk dual serine/threonine and tyrosine protein kinase ISO ClinVar Annotator: match by term: DSTYK-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 23 OMIM
ClinVar		 PMID:17273976 PMID:23862974 PMID:25741868 PMID:27657687 PMID:28492532 More... NCBI chrNW_004936557:7,191,377...7,243,489
Ensembl chrNW_004936557:7,191,082...7,239,816 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14615
    sensory system disease 6652
      skin disease 3912
        autoimmune disease of skin and connective tissue 170
          vitiligo 43
            Alopecia Universalis, Onychodystrophy, Vitiligo 0
            Congenital Deafness, with Vitiligo and Achalasia 0
            Progressive Vitiligo with Mental Retardation and Urethral Duplication 0
            Schrander-Stumpel Theunissen Hulsmans Syndrome 0
            hereditary spastic paraplegia 23 1
Path 2
Term Annotations click to browse term
  disease 14615
    Pathological Conditions, Signs and Symptoms 11544
      Signs and Symptoms 9713
        Neurologic Manifestations 9401
          sensory system disease 6652
            skin disease 3912
              pigmentation disease 272
                Hypopigmentation 157
                  vitiligo 43
                    Alopecia Universalis, Onychodystrophy, Vitiligo 0
                    Congenital Deafness, with Vitiligo and Achalasia 0
                    Progressive Vitiligo with Mental Retardation and Urethral Duplication 0
                    Schrander-Stumpel Theunissen Hulsmans Syndrome 0
                    hereditary spastic paraplegia 23 1
paths to the root