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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CCL20
C-C motif chemokine ligand 20
ISO
protein:decreased expression:skin
RGD
PMID:17545018
RGD:7483603
NCBI chr10:113,815,099...113,836,562
Ensembl chr10:113,832,573...113,835,736
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CD8A
CD8 subunit alpha
ISO
mRNA:decreased expression:zone of skin (human)
RGD
PMID:25774455
RGD:36174028
NCBI chr14:18,878,013...18,885,183
Ensembl chr14:18,878,622...18,883,885
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CTLA4
cytotoxic T-lymphocyte associated protein 4
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344
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FOXP3
forkhead box P3
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:46,349,890...46,365,133
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IL10
interleukin 10
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836
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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 chr23:61,714,293...61,731,835
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IL2
interleukin 2
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969
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IL21
interleukin 21
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:31414711
RGD:127285371
NCBI chr 7:69,859,793...69,872,237
Ensembl chr 7:69,863,535...69,872,025
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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 chr23:35,492,158...35,501,349
Ensembl chr23:35,492,939...35,501,258
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IL6
interleukin 6
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237
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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 chr 9:43,356,603...43,489,066
Ensembl chr 9:43,356,308...43,393,425
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MYD88
MYD88 innate immune signal transduction adaptor
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr15:1,276,804...1,281,811
Ensembl chr15:1,276,798...1,281,166
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NCR1
natural cytotoxicity triggering receptor 1
ISO
mRNA,protein:decreased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 6:47,521,488...47,527,713
Ensembl chr 6:47,521,956...47,530,961
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PDCD1
programmed cell death 1
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr10:127,877,383...127,886,234
Ensembl chr10:127,878,554...127,886,088
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PTPN11
protein tyrosine phosphatase non-receptor type 11
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637
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PTPN6
protein tyrosine phosphatase non-receptor type 6
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr11:6,977,480...6,994,525
Ensembl chr11:6,984,710...6,994,545
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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 chr16:1,408,453...1,424,197
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TGFB1
transforming growth factor beta 1
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365
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TLR2
toll like receptor 2
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 7:100,239,533...100,565,955
Ensembl chr 7:100,258,441...100,260,795
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TLR3
toll like receptor 3
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 7:131,991,068...132,014,366
Ensembl chr 7:131,991,029...132,016,232
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TLR4
toll like receptor 4
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr12:21,873,762...21,885,562
Ensembl chr12:21,871,773...21,885,515
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TLR7
toll like receptor 7
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:11,348,520...11,372,132
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TLR8
toll like receptor 8
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:11,387,933...11,405,056
Ensembl chr X:11,400,907...11,404,029
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TNF
tumor necrosis factor
ISO
protein:increased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
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TNFRSF18
TNF receptor superfamily member 18
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr20:130,237,950...130,243,303
Ensembl chr20:130,225,847...130,242,251
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MBL2
mannose binding lectin 2
ISO
DNA:SNP:cds:
RGD
PMID:17470593
RGD:8693700
NCBI chr 9:78,389,534...78,394,753
Ensembl chr 9:78,389,947...78,396,079
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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 chr 2:27,728,295...27,757,569
Ensembl chr 2:27,736,537...27,757,237
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IL2
interleukin 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15577323
NCBI chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969
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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 chr 7:22,202,497...22,205,730
Ensembl chr 7:22,202,527...22,204,068
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IDO1
indoleamine 2,3-dioxygenase 1
ISO
RGD
PMID:23853597
RGD:39938863
NCBI chr 8:37,930,910...37,950,790
Ensembl chr 8:37,930,562...37,946,505
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LTF
lactotransferrin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16640825
NCBI chr22:7,867,332...7,896,403
Ensembl chr22:7,867,286...7,894,521
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MBL2
mannose binding lectin 2
ISO
DNA:SNP:cds:
RGD
PMID:17470593
RGD:8693700
NCBI chr 9:78,389,534...78,394,753
Ensembl chr 9:78,389,947...78,396,079
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