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
Accession: DOID:12306
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 .
G
Bach2
BTB domain and CNC homolog 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561518
NCBI chr 5:46,632,338...46,982,676
Ensembl chr 5:46,638,317...46,977,877
G
C3
complement C3
ISO
RGD
PMID:12121667
RGD:7401277
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
G
C4a
complement C4A
ISO
associated with Graves Disease
RGD
PMID:21943165
RGD:5688264
NCBI chr20:4,005,731...4,020,083
Ensembl chr20:4,005,731...4,020,080
G
Casp7
caspase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561518
NCBI chr 1:255,437,438...255,476,737
Ensembl chr 1:255,437,172...255,476,729
G
Cat
catalase
susceptibility no_association
ISO
DNA:SNP,haplotype:promoter,cds:-89A>T,389C>T(human) protein:decreased activity:skin: DNA:SNPs:promoter,exon: -89A>T rs7943316), 389C>T (rs769217)(human)
RGD
PMID:20613769 PMID:19439879 PMID:23868633
RGD:9479149 , RGD:9479169 , RGD:9479150
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
G
Ccr6
C-C motif chemokine receptor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20526340
NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603
G
Cd44
CD44 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561518
NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620
G
Cd80
Cd80 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561518
NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
G
Clnk
cytokine-dependent hematopoietic cell linker
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561518
NCBI chr14:71,923,894...72,101,180
Ensembl chr14:71,873,105...72,101,208
G
Clu
clusterin
ISO
RGD
PMID:7558712
RGD:8699503
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
G
Comt
catechol-O-methyltransferase
no_association
ISO
DNA:polymorphism: :p.V158M (human)
RGD
PMID:19112571 PMID:24915010
RGD:8662333 , RGD:8662336
NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility no_association
ISO
associated with Autoimmune Diseases;DNA:polymorphisms: : DNA:SNP:exon:+49A>G rs231775)(human) DNA:SNPs:multiple: DNA:SNP:3'UTR:rs3087243(human)
RGD
PMID:15649153 PMID:19129082 PMID:18200060 PMID:21794098
RGD:7411687 , RGD:7411699 , RGD:7411697 , RGD:7411696
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
G
Esr1
estrogen receptor 1
susceptibility no_association
ISO
DNA:SNP:intron DNA:SNP:exon
RGD
PMID:15381239 PMID:15381239
RGD:8552976 , RGD:8552976
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
G
Foxd3
forkhead box D3
susceptibility
ISO
ClinVar Annotator: match by term: Autoimmune disease, susceptibility to, 1 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:16098053
NCBI chr 5:114,335,084...114,337,450
Ensembl chr 5:114,335,408...114,336,817
G
Foxp1
forkhead box P1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20526340
NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
G
Hgf
hepatocyte growth factor
treatment
ISO
RGD
PMID:16117796
RGD:8548598
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
G
Hspa1a
heat shock protein family A (Hsp70) member 1A
treatment
ISO
RGD
PMID:23447019
RGD:8662840
NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227
G
Ifih1
interferon induced with helicase C domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561518
NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
G
Ifng
interferon gamma
susceptibility onset
ISO
DNA:repeats:intron:rs3138557(human) DNA:polymorphism:intron:rs2430561(human)
RGD
PMID:23777204 PMID:23777204
RGD:8157616 , RGD:8157616
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Ikzf4
IKAROS family zinc finger 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561518
NCBI chr 7:1,063,283...1,102,940
Ensembl chr 7:1,056,890...1,084,341
G
Il13
interleukin 13
treatment
ISO
RGD
PMID:23680073
RGD:8549591
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
G
Il17a
interleukin 17A
ISO
protein:increased expression:serum:
RGD
PMID:22342018
RGD:8663475
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
G
Il1a
interleukin 1 alpha
ISO
protein:increased expression:skin CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:28836394 PMID:16911396
RGD:7794736
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
G
Il2
interleukin 2
ISO
protein:increased expression:serum:
RGD
PMID:22342018
RGD:8663475
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
G
Il4
interleukin 4
ISO
protein:increased expression:serum:
RGD
PMID:22342018
RGD:8663475
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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 chr10:30,753,344...30,814,685
Ensembl chr10:30,753,344...30,814,685
G
Kif1b
kinesin family member 1B
ISO
ClinVar Annotator: match by term: Vitiligo
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
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 chr 1:228,016,439...228,024,736
G
Mc1r
melanocortin 1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561518
NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
G
Nfe2l2
NFE2 like bZIP transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28836394
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
G
Nlrp1a
NLR family, pyrin domain containing 1A
ISO
ClinVar Annotator: match by term: Vitiligo-associated multiple autoimmune disease susceptibility 1 CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:17377159 PMID:25741868 PMID:27662089 PMID:28492532
NCBI chr10:55,778,560...55,833,639
Ensembl chr10:55,778,560...55,825,180
G
Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28836394
NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
G
Psmb9
proteasome 20S subunit beta 9
ISO
RGD
PMID:14551602
RGD:1578358
NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
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 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
G
RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphisms:: HLA-DQA1*0302, HLA-DQA1*0601, HLA-DQA1*0501;
RGD
PMID:16409268
RGD:8547566
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
G
RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphisms (human) DNA:polymorphism:HLA-DQB1*0201(human)
RGD
PMID:16420246 PMID:9653015
RGD:5147644 , RGD:36174006
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
G
RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphisms (human) DNA:polymorphism: : HLA-DRB1*0701(human)
RGD
PMID:16420246 PMID:9653015
RGD:5147644 , RGD:36174006
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
G
Sh2b3
SH2B adaptor protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561518
NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
G
Sla
src-like adaptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561518
NCBI chr 7:98,534,431...98,584,810
Ensembl chr 7:98,535,368...98,584,648
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 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
G
Tgfb1
transforming growth factor, beta 1
ISO
protein:decreased expression:serum:
RGD
PMID:22342018
RGD:8663475
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
G
Tlr2
toll-like receptor 2
susceptibility
ISO
DNA:polymorphism:exon:p.R753Q(human)
RGD
PMID:22429552
RGD:7777152
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
G
Tlr4
toll-like receptor 4
susceptibility
ISO
DNA:polymorphism:exon:p.D299G(human)
RGD
PMID:22429552
RGD:7777152
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Tnf
tumor necrosis factor
ISO
protein:increased expression:skin CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:28836394 PMID:16911396
RGD:7794736
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Tob2
transducer of ERBB2, 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561518
NCBI chr 7:113,362,703...113,371,423
Ensembl chr 7:113,361,148...113,372,688
G
Tyr
tyrosinase
severity
ISO
RGD
PMID:22834951 PMID:8697641
RGD:8694387 , RGD:8694409
NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
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 PMID:22762534
RGD:8158061 , RGD:8158066 , RGD:8158066
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:17273976 PMID:23862974 PMID:25741868 PMID:27657687 PMID:28492532 PMID:28566479 PMID:33624863 More...
NCBI chr13:43,857,266...43,905,280
Ensembl chr13:43,857,266...43,905,269
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all