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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.


show annotations for term's descendants           Sort by:
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 chr 1:57,881,203...58,281,740
Ensembl chr 1:57,899,808...58,281,430 		JBrowse link
G C3 complement C3 ISO RGD PMID:12121667 RGD:7401277 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228 		JBrowse link
G CASP7 caspase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr14:124,017,776...124,050,369
Ensembl chr14:124,019,164...124,050,365 		JBrowse link
G CAT catalase susceptibility
no_association		 ISO protein:decreased activity:skin:
DNA:SNP,haplotype:promoter,cds:-89A>T,389C>T(human)
DNA:SNPs:promoter,exon: -89A>T rs7943316), 389C>T (rs769217)(human) 		RGD PMID:19439879 PMID:20613769 PMID:23868633 RGD:9479149 RGD:9479150 RGD:9479169 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452 		JBrowse link
G CCR6 C-C motif chemokine receptor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20526340 NCBI chr 1:2,016,600...2,034,172
Ensembl chr 1:2,018,608...2,019,821 		JBrowse link
G CD44 CD44 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr 2:25,788,699...25,884,209
Ensembl chr 2:25,788,703...25,884,153 		JBrowse link
G CD80 CD80 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr13:140,693,312...140,730,541
Ensembl chr13:140,693,382...140,728,976 		JBrowse link
G CLNK cytokine dependent hematopoietic cell linker ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr 8:6,604,975...6,769,769
Ensembl chr 8:6,608,853...6,769,572 		JBrowse link
G CLU clusterin ISO RGD PMID:7558712 RGD:8699503 NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,595...11,349,764 		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 chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility
no_association		 ISO associated with Autoimmune Diseases;DNA:polymorphisms: :
DNA:SNP:3'UTR:rs3087243(human)
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 chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103 		JBrowse link
G ESR1 estrogen receptor 1 no_association
susceptibility		 ISO DNA:SNP:exon
DNA:SNP:intron		 RGD PMID:15381239 RGD:8552976 NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363 		JBrowse link
G FOXD3 forkhead box D3 susceptibility ISO ClinVar Annotator: match by term: Autoimmune disease, susceptibility to, 1 OMIM
ClinVar		 PMID:16098053 NCBI chr 6:149,153,397...149,155,576
Ensembl chr 6:149,154,033...149,155,478 		JBrowse link
G FOXP1 forkhead box P1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20526340 NCBI chr13:52,346,844...52,974,358
Ensembl chr13:52,348,234...52,876,892 		JBrowse link
G HGF hepatocyte growth factor treatment ISO RGD PMID:16117796 RGD:8548598 NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr15:68,930,998...68,985,145
Ensembl chr15:68,928,254...68,985,083 		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 chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670 		JBrowse link
G IKZF4 IKAROS family zinc finger 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr 5:21,399,858...21,427,648
Ensembl chr 5:21,400,347...21,427,647 		JBrowse link
G IL13 interleukin 13 treatment ISO RGD PMID:23680073 RGD:8549591 NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093 		JBrowse link
G IL17A interleukin 17A ISO protein:increased expression:serum: RGD PMID:22342018 RGD:8663475 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153 		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 chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,121 		JBrowse link
G IL2 interleukin 2 ISO protein:increased expression:serum: RGD PMID:22342018 RGD:8663475 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609 		JBrowse link
G IL4 interleukin 4 ISO protein:increased expression:serum: RGD PMID:22342018 RGD:8663475 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365 		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 chr16:66,010,766...66,082,263
Ensembl chr16:66,010,772...66,082,185 		JBrowse link
G KIF1B kinesin family member 1B ISO ClinVar Annotator: match by term: Vitiligo ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:70,495,143...70,663,464
Ensembl chr 6:70,495,144...70,661,798 		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 chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083 		JBrowse link
G MC1R melanocortin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr 6:181,225...182,187
Ensembl chr 6:181,225...182,187 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28836394 NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183 		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 chr12:51,479,968...51,495,540 JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28836394 NCBI chr16:46,434,757...46,523,626
Ensembl chr16:46,511,521...46,523,609 		JBrowse link
G PSMB9 proteasome 20S subunit beta 9 ISO RGD PMID:14551602 RGD:1578358 NCBI chr 7:25,072,133...25,077,508
Ensembl chr 7:25,072,323...25,078,322 		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 chr 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099 		JBrowse link
G SH2B3 SH2B adaptor protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr14:32,623,286...32,664,606
Ensembl chr14:32,623,286...32,664,606 		JBrowse link
G SLA Src like adaptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr 4:8,166,829...8,247,396
Ensembl chr 4:8,189,232...8,247,388 		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 chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO protein:decreased expression:serum: RGD PMID:22342018 RGD:8663475 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046 		JBrowse link
G TLR2 toll like receptor 2 susceptibility ISO DNA:polymorphism:exon:p.R753Q(human) RGD PMID:22429552 RGD:7777152 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330 		JBrowse link
G TLR4 toll like receptor 4 susceptibility ISO DNA:polymorphism:exon:p.D299G(human) RGD PMID:22429552 RGD:7777152 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970 		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 chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415 		JBrowse link
G TOB2 transducer of ERBB2, 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr 5:7,086,397...7,098,643
Ensembl chr 5:7,086,651...7,098,637 		JBrowse link
G TYR tyrosinase severity ISO RGD PMID:8697641 PMID:22834951 RGD:8694387 RGD:8694409 NCBI chr 9:22,517,047...22,604,290
Ensembl chr 9:22,517,047...22,604,290 		JBrowse link
G VDR vitamin D receptor no_association ISO DNA:SNPs, haplotype: :multiple
DNA:SNPs: :rs731236, rs1544410, rs7975232 (human)
DNA:SNP:exon:rs2228570 (human)		 RGD PMID:22738935 PMID:22762534 RGD:8158061 RGD:8158066 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475 		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 chr 9:65,833,050...65,892,024
Ensembl chr 9:65,833,054...65,891,999 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15390
    sensory system disease 6894
      skin disease 4050
        autoimmune disease of skin and connective tissue 183
          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 15390
    Pathological Conditions, Signs and Symptoms 12066
      Signs and Symptoms 10112
        Neurologic Manifestations 9793
          sensory system disease 6894
            skin disease 4050
              pigmentation disease 277
                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