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.
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Cchcr1
coiled-coil alpha-helical rod protein 1
ISS
OMIM:104000 | OMIM:610753
MouseDO
NCBI chr20:3,205,675...3,218,437
Ensembl chr20:3,205,676...3,218,308
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility
ISO
DNA:SNP:3'UTR:rs3087243(human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20596022 PMID:23567921
RGD:7411701
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22358057
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22358057
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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Cxcr3
C-X-C motif chemokine receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22358057
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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Dnmt1
DNA methyltransferase 1
ISO
mRNA:increased expression:mononuclear cell:
RGD
PMID:21936853
RGD:9587460
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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Ehmt2
euchromatic histone lysine methyltransferase 2
ISO
mRNA:increased expression:mononuclear cell:
RGD
PMID:21936853
RGD:9587460
NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547
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Hdac1
histone deacetylase 1
ISO
mRNA:increased expression:mononuclear cell:
RGD
PMID:21936853
RGD:9587460
NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
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Hdac2
histone deacetylase 2
ISO
mRNA:decreased expression:mononuclear cell:
RGD
PMID:21936853
RGD:9587460
NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609
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Hdac7
histone deacetylase 7
ISO
mRNA:decreased expression:mononuclear cell:
RGD
PMID:21936853
RGD:9587460
NCBI chr 7:128,923,918...128,961,926
Ensembl chr 7:128,923,920...128,962,072
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Ikzf4
IKAROS family zinc finger 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20596022
NCBI chr 7:1,063,283...1,102,940
Ensembl chr 7:1,056,890...1,084,341
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Il18
interleukin 18
susceptibility
ISO
DNA:SNPs:promoter, exon:-137G>C (rs187238), rs549908 (human)
RGD
PMID:24446726
RGD:8655875
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1rn
interleukin 1 receptor antagonist
severity
ISO
DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)
RGD
PMID:8077705
RGD:6909137
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il2
interleukin 2
ISO
RGD
PMID:3261574 PMID:16297194
RGD:8663449 , RGD:8663450
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il2ra
interleukin 2 receptor subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20596022
NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
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Kdm1a
lysine demethylase 1A
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:21936853
RGD:9587460
NCBI chr 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319
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Kdm4a
lysine demethylase 4A
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:21936853
RGD:9587460
NCBI chr 5:131,672,754...131,719,534
Ensembl chr 5:131,672,754...131,719,501
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Kdm4b
lysine demethylase 4B
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:21936853
RGD:9587460
NCBI chr 9:1,158,737...1,237,233
Ensembl chr 9:1,158,752...1,236,543
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Kdm4c
lysine demethylase 4C
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:21936853
RGD:9587460
NCBI chr 5:88,100,710...88,306,821
Ensembl chr 5:88,100,733...88,306,818
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Kdm5a
lysine demethylase 5A
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:21936853
RGD:9587460
NCBI chr 4:153,565,909...153,643,912
Ensembl chr 4:153,565,846...153,642,422
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Mx1
MX dynamin like GTPase 1
onset
ISO
DNA:SNP:intron 6:g.9959C>T (human)
RGD
PMID:10942113
RGD:126777672
NCBI chr11:36,799,659...36,825,209
Ensembl chr11:36,799,660...36,823,507
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Notch4
notch receptor 4
ISO
RGD
PMID:12589427
RGD:6480681
NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
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Prdx5
peroxiredoxin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20596022
NCBI chr 1:204,099,826...204,103,589
Ensembl chr 1:204,099,826...204,114,268
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
severity
ISO
DNA:snp:cds:c.1858C>T (human)
RGD
PMID:16829308
RGD:6484734
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphism: : HLA-DQA1*0104, HLA-DQA1*0606;
RGD
PMID:16231148
RGD:8547568
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphism: : HLA-DQB1*0604;
RGD
PMID:16231148
RGD:8547568
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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Stx17
syntaxin 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20596022
NCBI chr 5:62,446,138...62,506,108
Ensembl chr 5:62,446,187...62,504,451
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