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vitiligo - Ontology Report - Rat Genome Database

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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_004624799:3,893,548...4,262,344
Ensembl chrNW_004624799:3,984,546...4,256,898 		JBrowse link
G C3 complement C3 ISO RGD PMID:12121667 RGD:7401277 NCBI chrNW_004624828:3,773,816...3,798,077
Ensembl chrNW_004624828:3,770,221...3,797,946 		JBrowse link
G Casp7 caspase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chrNW_004624737:32,853,354...32,888,881
Ensembl chrNW_004624737:32,852,835...32,887,069 		JBrowse link
G Cat catalase susceptibility
no_association 		ISO DNA:SNP,haplotype:promoter,cds:-89A>T,389C>T(human)
DNA:SNPs:promoter,exon: -89A>T rs7943316), 389C>T (rs769217)(human)
protein:decreased activity:skin: 		RGD PMID:19439879 PMID:20613769 PMID:23868633 RGD:9479149 RGD:9479150 RGD:9479169 NCBI chrNW_004624767:12,680,940...12,715,468
Ensembl chrNW_004624767:12,680,953...12,715,739 		JBrowse link
G Ccr6 C-C motif chemokine receptor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20526340 NCBI chrNW_004624785:12,190,802...12,203,924 JBrowse link
G Cd44 CD44 molecule (IN blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chrNW_004624767:11,938,452...12,024,970
Ensembl chrNW_004624767:11,938,028...12,025,069 		JBrowse link
G Cd80 CD80 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chrNW_004624731:28,630,540...28,655,297
Ensembl chrNW_004624731:28,630,446...28,651,994 		JBrowse link
G Clnk cytokine dependent hematopoietic cell linker ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chrNW_004624755:20,667,325...20,817,497 JBrowse link
G Clu clusterin ISO RGD PMID:7558712 RGD:8699503 NCBI chrNW_004624758:22,431,331...22,444,185
Ensembl chrNW_004624758:22,426,918...22,444,357 		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_004624747:569,127...588,479
Ensembl chrNW_004624747:581,832...588,333 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 no_association
susceptibility 		ISO associated with Autoimmune Diseases;DNA:polymorphisms: :
DNA:SNPs:multiple:
DNA:SNP:3'UTR:rs3087243(human)
DNA:SNP:exon:+49A>G rs231775)(human) 		RGD PMID:15649153 PMID:18200060 PMID:19129082 PMID:21794098 RGD:7411687 RGD:7411696 RGD:7411697 RGD:7411699 NCBI chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324 		JBrowse link
G Esr1 estrogen receptor 1 susceptibility
no_association 		ISO DNA:SNP:intron
DNA:SNP:exon 		RGD PMID:15381239 RGD:8552976 NCBI chrNW_004624785:6,164,507...6,601,302
Ensembl chrNW_004624785:6,164,379...6,601,326 		JBrowse link
G Foxp1 forkhead box P1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20526340 NCBI chrNW_004624773:5,543,529...6,076,522
Ensembl chrNW_004624773:5,543,536...5,883,131 		JBrowse link
G Hgf hepatocyte growth factor treatment ISO RGD PMID:16117796 RGD:8548598 NCBI chrNW_004624739:30,233,589...30,307,508
Ensembl chrNW_004624739:30,236,146...30,307,356 		JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chrNW_004624732:3,187,791...3,248,795
Ensembl chrNW_004624732:3,187,791...3,250,981 		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_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534 		JBrowse link
G Ikzf4 IKAROS family zinc finger 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chrNW_004624802:12,008,096...12,023,142
Ensembl chrNW_004624802:12,007,506...12,023,121 		JBrowse link
G Il13 interleukin 13 treatment ISO RGD PMID:23680073 RGD:8549591 NCBI chrNW_004624733:39,427,189...39,430,019
Ensembl chrNW_004624733:39,428,095...39,429,843 		JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:serum: RGD PMID:22342018 RGD:8663475 NCBI chrNW_004624855:3,911,349...3,914,214
Ensembl chrNW_004624855:3,911,349...3,913,136 		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_004624749:12,795,967...12,805,658
Ensembl chrNW_004624749:12,795,946...12,805,154 		JBrowse link
G Il2 interleukin 2 ISO protein:increased expression:serum: RGD PMID:22342018 RGD:8663475 NCBI chrNW_004624777:2,885,537...2,890,453
Ensembl chrNW_004624777:2,885,535...2,890,453 		JBrowse link
G Il4 interleukin 4 ISO protein:increased expression:serum: RGD PMID:22342018 RGD:8663475 NCBI chrNW_004624733:39,412,800...39,420,079 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_004624733:32,125,005...32,198,901
Ensembl chrNW_004624733:32,127,388...32,198,869 		JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Vitiligo ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624818:2,282,999...2,428,586
Ensembl chrNW_004624818:2,282,999...2,428,563 		JBrowse link
G LOC101703821 HLA class II histocompatibility antigen, DQ beta 1 chain susceptibility ISO DNA:polymorphisms (human)
DNA:polymorphism:HLA-DQB1*0201(human) 		RGD PMID:9653015 PMID:16420246 RGD:36174006 RGD:5147644 NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713 		JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility
no_association 		ISO DNA:polymorphism:exon:
DNA:polymorphisms:promoter, exon: 		RGD PMID:17337399 PMID:19416237 RGD:8693723 RGD:8693724 NCBI chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297 		JBrowse link
G Mc1r melanocortin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chrNW_004624746:131,356...137,745
Ensembl chrNW_004624746:132,904...133,860 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28836394 NCBI chrNW_004624787:14,355,330...14,381,353
Ensembl chrNW_004624787:14,355,791...14,381,251 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28836394 NCBI chrNW_004624815:1,290,106...1,376,961
Ensembl chrNW_004624815:1,289,997...1,369,610 		JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:14551602 RGD:1578358 NCBI chrNW_004624754:23,811,008...23,815,432
Ensembl chrNW_004624754:23,807,272...23,815,417 		JBrowse link
G Ptpn22 protein tyrosine phosphatase non-receptor type 22 ISO DNA:polymorphism: :1858C>T (p.R620W) (human)
DNA: snp : cds: rs2476601 		RGD PMID:16015369 PMID:18426414 RGD:6484552 RGD:7829737 NCBI chrNW_004624772:9,472,869...9,552,751
Ensembl chrNW_004624772:9,472,913...9,550,990 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chrNW_004624747:20,729,142...20,759,631
Ensembl chrNW_004624747:20,730,751...20,759,625 		JBrowse link
G Sla Src like adaptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chrNW_004624735:22,929,467...22,949,471
Ensembl chrNW_004624735:22,892,713...22,950,355 		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_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367 		JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO protein:decreased expression:serum: RGD PMID:22342018 RGD:8663475 NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605 		JBrowse link
G Tlr2 toll like receptor 2 susceptibility ISO DNA:polymorphism:exon:p.R753Q(human) RGD PMID:22429552 RGD:7777152 NCBI chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833 		JBrowse link
G Tlr4 toll like receptor 4 susceptibility ISO DNA:polymorphism:exon:p.D299G(human) RGD PMID:22429552 RGD:7777152 NCBI chrNW_004624760:17,596,516...17,608,955
Ensembl chrNW_004624760:17,598,630...17,609,120 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:skin 		CTD
RGD		 PMID:16911396 PMID:28836394 RGD:7794736 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531 		JBrowse link
G Tob2 transducer of ERBB2, 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chrNW_004624752:7,129,464...7,190,718
Ensembl chrNW_004624752:7,129,550...7,140,668 		JBrowse link
G Tyr tyrosinase severity ISO RGD PMID:8697641 PMID:22834951 RGD:8694387 RGD:8694409 NCBI chrNW_004624845:844,492...933,098
Ensembl chrNW_004624845:844,293...933,098 		JBrowse link
G Vdr vitamin D receptor no_association ISO DNA:SNPs, haplotype: :multiple
DNA:SNP:exon:rs2228570 (human)
DNA:SNPs: :rs731236, rs1544410, rs7975232 (human) 		RGD PMID:22738935 PMID:22762534 RGD:8158061 RGD:8158066 NCBI chrNW_004624816:4,314,146...4,423,946
Ensembl chrNW_004624816:4,365,961...4,424,514 		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_004624807:5,942,610...5,993,049
Ensembl chrNW_004624807:5,942,799...5,993,049 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14234
    sensory system disease 6532
      skin disease 3808
        autoimmune disease of skin and connective tissue 168
          vitiligo 42
            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 14234
    Pathological Conditions, Signs and Symptoms 11245
      Signs and Symptoms 9471
        Neurologic Manifestations 9178
          sensory system disease 6532
            skin disease 3808
              pigmentation disease 272
                Hypopigmentation 158
                  vitiligo 42
                    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