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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B9D2
B9 domain containing 2
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
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CCL20
C-C motif chemokine ligand 20
ISO
protein:decreased expression:skin
RGD
PMID:17545018
RGD:7483603
NCBI chr25:40,506,385...40,509,903
Ensembl chr25:40,506,753...40,509,709
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CD8A
CD8 subunit alpha
ISO
mRNA:decreased expression:zone of skin (human)
RGD
PMID:25774455
RGD:36174028
NCBI chr17:38,396,022...38,400,508
Ensembl chr17:38,369,414...38,400,508
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CTLA4
cytotoxic T-lymphocyte associated protein 4
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
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FOXP3
forkhead box P3
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:42,331,229...42,362,841
Ensembl chr X:42,344,108...42,350,758
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IL10
interleukin 10
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
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IL12B
interleukin 12B
treatment
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:16114559 PMID:23754510
RGD:40400714 RGD:7829774
NCBI chr 4:51,178,637...51,194,606
Ensembl chr 4:51,183,568...51,193,228
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IL2
interleukin 2
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
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IL21
interleukin 21
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:31414711
RGD:127285371
NCBI chr19:17,641,833...17,651,275
Ensembl chr19:17,641,833...17,651,266
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IL4
interleukin 4
treatment
ISO
protein:increased expression:peripheral blood mononuclear cells (human)
RGD
PMID:16114559 PMID:23754510
RGD:40400714 RGD:7829774
NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
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IL6
interleukin 6
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
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KLRK1
killer cell lectin like receptor K1
ISO
mRNA,protein:decreased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr27:35,634,938...35,658,978
Ensembl chr27:35,639,280...35,658,882
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MAPK8
mitogen-activated protein kinase 8
treatment
ISO
mRNA:increased expression:zone of skin (human)
RGD
PMID:25774455
RGD:36174028
NCBI chr28:323,361...410,367
Ensembl chr28:368,513...406,401
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MYD88
MYD88 innate immune signal transduction adaptor
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr23:7,901,578...7,905,274
Ensembl chr23:7,901,250...7,904,534
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NCR1
natural cytotoxicity triggering receptor 1
ISO
mRNA,protein:decreased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 1:102,686,058...102,690,350
Ensembl chr 1:102,686,058...102,690,620
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PDCD1
programmed cell death 1
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723
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PTPN11
protein tyrosine phosphatase non-receptor type 11
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481
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PTPN6
protein tyrosine phosphatase non-receptor type 6
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr27:38,084,976...38,101,552
Ensembl chr27:38,084,980...38,101,937
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SERPINF1
serpin family F member 1
disease_progression
ISO
mRNA, protein:decreased expression:skin of body (human)
RGD
PMID:23569025
RGD:27226706
NCBI chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765
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TLR2
toll like receptor 2
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
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TLR3
toll like receptor 3
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr16:44,617,012...44,633,591
Ensembl chr16:44,550,846...44,653,247
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TLR4
toll like receptor 4
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
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TLR7
toll like receptor 7
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:9,331,243...9,360,461
Ensembl chr X:9,314,815...9,359,603
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TLR8
toll like receptor 8
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:9,381,159...9,399,938
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TLR9
toll like receptor 9
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114 Ensembl chr20:37,542,340...37,547,114
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TNF
tumor necrosis factor
ISO
protein:increased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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TNFRSF18
TNF receptor superfamily member 18
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 5:56,394,559...56,397,502
Ensembl chr 5:56,394,659...56,397,741
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MBL1
mannose binding lectin 1
ISO
DNA:SNP:cds:
RGD
PMID:17470593
RGD:8693700
NCBI chr 4:29,419,886...29,424,377
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MKKS
MKKS centrosomal shuttling protein
ISO
ClinVar Annotator: match by term: HYDROMETROCOLPOS, POSTAXIAL POLYDACTYLY, AND CONGENITAL HEART MALFORMATION | ClinVar Annotator: match by term: Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation | ClinVar Annotator: match by term: MKKS-related condition | ClinVar Annotator: match by term: McKusick-Kaufman syndrome
OMIM ClinVar
PMID:3196484 PMID:9536098 PMID:10802661 PMID:10973238 PMID:10973251 PMID:11179009 PMID:11567139 PMID:12107442 PMID:12920096 PMID:15483080 PMID:15637713 PMID:15666242 PMID:15731008 PMID:15770229 PMID:16104012 PMID:17576681 PMID:18094050 PMID:20080638 PMID:20120035 PMID:20142850 PMID:20177705 PMID:20226561 PMID:20472660 PMID:20498079 PMID:21157496 PMID:21209035 PMID:22446187 PMID:22500027 PMID:22773737 PMID:24400638 PMID:25741868 PMID:25982971 PMID:26355662 PMID:26900326 PMID:27491411 PMID:28492532 PMID:28753627 PMID:28761321 PMID:29127258 PMID:29588463 PMID:30504698 PMID:30586318 PMID:30614526 PMID:30718709 PMID:31028937 PMID:33138063 PMID:33520300 PMID:34262361 PMID:34448047 PMID:34663891 PMID:35112343 PMID:35835773 More...
NCBI chr24:11,887,504...11,914,055
Ensembl chr24:11,898,236...11,913,740
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IL2
interleukin 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15577323
NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
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CXCL8
C-X-C motif chemokine ligand 8
ISO
associated with human immunodeficiency virus infectious disease;protein:increased expression:vaginal fluid (human)
RGD
PMID:18243333
RGD:150523783
NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354
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IDO1
indoleamine 2,3-dioxygenase 1
ISO
RGD
PMID:23853597
RGD:39938863
NCBI chr16:25,391,759...25,407,161
Ensembl chr16:25,391,754...25,407,048
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LTF
lactotransferrin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16640825
NCBI chr20:42,231,994...42,263,202
Ensembl chr20:42,231,994...42,263,202
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MBL1
mannose binding lectin 1
ISO
DNA:SNP:cds:
RGD
PMID:17470593
RGD:8693700
NCBI chr 4:29,419,886...29,424,377
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