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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: OMIM:193200;   OMIM:606579;   OMIM:607836;   OMIM:608391;   OMIM:608392;   OMIM: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 6:87,806,188...88,175,840
Ensembl chr 6:91,083,533...91,160,552 		JBrowse link
G C3 complement C3 ISO RGD PMID:12121667 RGD:7401277 NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699 		JBrowse link
G C4A complement C4A (Chido/Rodgers blood group) ISO associated with Graves Disease RGD PMID:21943165 RGD:5688264 NCBI chr 6:31,648,710...31,655,792 JBrowse link
G CASP7 caspase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr10:110,273,318...110,324,800
Ensembl chr10:113,707,780...113,758,626 		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 chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160 		JBrowse link
G CCR6 C-C motif chemokine receptor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20526340 NCBI chr 6:165,094,563...165,109,774
Ensembl chr 6:170,069,689...170,084,779 		JBrowse link
G CD44 CD44 molecule (IN blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr11:35,110,732...35,258,238
Ensembl chr11:34,985,634...35,079,009 		JBrowse link
G CD80 CD80 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr 3:116,646,590...116,683,725
Ensembl chr 3:123,559,559...123,594,870 		JBrowse link
G CLNK cytokine dependent hematopoietic cell linker ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr 4:4,902,117...5,107,145
Ensembl chr 4:10,209,803...10,469,596 		JBrowse link
G CLU clusterin ISO RGD PMID:7558712 RGD:8699503 NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523 		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 chr22:2,704,015...2,731,326
Ensembl chr22:18,375,434...18,402,387 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 no_association
susceptibility		 ISO DNA:SNPs:multiple:
DNA:SNP:exon:+49A>G rs231775)(human)
DNA:SNP:3'UTR:rs3087243(human)
associated with Autoimmune Diseases;DNA:polymorphisms: :		 RGD PMID:15649153 PMID:18200060 PMID:19129082 PMID:21794098 RGD:7411687 RGD:7411696 RGD:7411697 RGD:7411699 NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498 		JBrowse link
G ESR1 estrogen receptor 1 no_association
susceptibility		 ISO DNA:SNP:exon
DNA:SNP:intron		 RGD PMID:15381239 RGD:8552976 NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551 		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 1:62,577,800...62,580,360 JBrowse link
G FOXP1 forkhead box P1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20526340 NCBI chr 3:70,893,933...71,523,892
Ensembl chr 3:72,258,456...72,498,173 		JBrowse link
G HGF hepatocyte growth factor treatment ISO RGD PMID:16117796 RGD:8548598 NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811 		JBrowse link
G HSPA1A heat shock protein family A (Hsp70) member 1A treatment ISO RGD PMID:23447019 RGD:8662840 NCBI chr 6:31,476,710...31,491,411 JBrowse link
G IFIH1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr2B:49,560,620...49,612,086
Ensembl chr2B:166,928,994...166,980,170 		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 chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829 		JBrowse link
G IKZF4 IKAROS family zinc finger 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr12:32,874,890...32,906,053
Ensembl chr12:33,124,994...33,155,269 		JBrowse link
G IL13 interleukin 13 treatment ISO RGD PMID:23680073 RGD:8549591 NCBI chr 5:128,073,863...128,078,453
Ensembl chr 5:134,235,788...134,240,548 		JBrowse link
G IL17A interleukin 17A ISO protein:increased expression:serum: RGD PMID:22342018 RGD:8663475 NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074 		JBrowse link
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:skin		 CTD
RGD		 PMID:16911396 PMID:28836394 RGD:7794736 NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801 		JBrowse link
G IL2 interleukin 2 ISO protein:increased expression:serum: RGD PMID:22342018 RGD:8663475 NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984 		JBrowse link
G IL4 interleukin 4 ISO protein:increased expression:serum: RGD PMID:22342018 RGD:8663475 NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581 		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 chr 5:152,582,125...152,656,211
Ensembl chr 5:159,204,016...159,277,689 		JBrowse link
G KIF1B kinesin family member 1B ISO ClinVar Annotator: match by term: Vitiligo ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:8,969,910...9,141,964
Ensembl chr 1:10,198,997...10,364,577
Ensembl chr 1:10,198,997...10,364,577 		JBrowse link
G LOC100972994 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 chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272 		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 chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432 		JBrowse link
G MC1R melanocortin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr16:70,676,447...70,697,636 JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28836394 NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085 		JBrowse link
G NLRP1 NLR family pyrin domain containing 1 ISO ClinVar Annotator: match by term: Vitiligo-associated multiple autoimmune disease susceptibility 1 ClinVar
OMIM		 PMID:17377159 PMID:25741868 PMID:27662089 PMID:28492532 NCBI chr17:5,562,129...5,667,765
Ensembl chr17:5,542,007...5,623,091 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28836394 NCBI chr 5:45,701,219...45,786,652
Ensembl chr 5:47,267,286...47,350,960 		JBrowse link
G PSMB9 proteasome 20S subunit beta 9 ISO RGD PMID:14551602 RGD:1578358 NCBI chr 6:32,423,614...32,429,062
Ensembl chr 6:33,539,060...33,564,402 		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 chr 1:88,685,736...88,743,164
Ensembl chr 1:123,734,511...123,790,830 		JBrowse link
G SH2B3 SH2B adaptor protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr12:108,977,344...109,024,029 JBrowse link
G SLA Src like adaptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr 8:129,690,546...129,757,660
Ensembl chr 8:132,666,411...132,732,669 		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 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO protein:decreased expression:serum: RGD PMID:22342018 RGD:8663475 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973 		JBrowse link
G TLR2 toll like receptor 2 susceptibility ISO DNA:polymorphism:exon:p.R753Q(human) RGD PMID:22429552 RGD:7777152 NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331 		JBrowse link
G TLR4 toll like receptor 4 susceptibility ISO DNA:polymorphism:exon:p.D299G(human) RGD PMID:22429552 RGD:7777152 NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711 		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 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381 		JBrowse link
G TOB2 transducer of ERBB2, 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr22:22,329,783...22,344,795 JBrowse link
G TYR tyrosinase severity ISO RGD PMID:8697641 PMID:22834951 RGD:8694387 RGD:8694409 NCBI chr11:84,188,557...84,306,686
Ensembl chr11:87,769,606...87,888,138 		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 chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192 		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 1:180,750,987...180,820,096
Ensembl chr 1:185,041,994...185,107,041 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15685
    sensory system disease 6646
      skin disease 3779
        autoimmune disease of skin and connective tissue 195
          vitiligo 46
            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 15685
    Pathological Conditions, Signs and Symptoms 12045
      Signs and Symptoms 9976
        Neurologic Manifestations 9655
          sensory system disease 6646
            skin disease 3779
              pigmentation disease 253
                Hypopigmentation 147
                  vitiligo 46
                    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