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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Cxcr2
C-X-C motif chemokine receptor 2
susceptibility
ISO
DNA:polymorphism: :1208C>T (human)
RGD
PMID:22325052
RGD:7207860
NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
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Rbp4
retinol binding protein 4
ISO
protein:decreased expression:blood plasma (human)
RGD
PMID:20163326
RGD:329853301
NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
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Ace
angiotensin I converting enzyme
ISO
protein:decreased expression:kidney, brush border epithelial cell (human)
RGD
PMID:10504496
RGD:8158033
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Ambp
alpha-1-microglobulin/bikunin precursor
ISO
RGD
PMID:19205372
RGD:6904156
NCBI chr 5:76,568,094...76,578,416
Ensembl chr 5:76,568,094...76,578,331
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B2m
beta-2 microglobulin
IEP
protein:increased expression:urine
RGD
PMID:21797109
RGD:6482315
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Bmp7
bone morphogenetic protein 7
IEP
protein:decreased expression:kidney
RGD
PMID:16034630
RGD:2289039
NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788
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Calca
calcitonin-related polypeptide alpha
ISO
RGD
PMID:15286264
RGD:7205498
NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
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Cfb
complement factor B
ISO
associated with pregnancy complications;protein:increased activity:plasma
RGD
PMID:20218820
RGD:7242756
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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Crp
C-reactive protein
IEP
RGD
PMID:21797109
RGD:6482315
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Cxcr1
C-X-C motif chemokine receptor 1
ISO
DNA:SNP: :2608G>C (human) DNA:mutations, polymorphisms: :multiple
RGD
PMID:22325052 PMID:17786197
RGD:7207860 , RGD:7207864
NCBI chr 9:75,766,894...75,771,079
Ensembl chr 9:75,766,770...75,771,084
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Cxcr2
C-X-C motif chemokine receptor 2
ISO
RGD
PMID:21814172
RGD:7257675
NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
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Cyb5a
cytochrome b5 type A
IEP
RGD
PMID:9848217
RGD:1599663
NCBI chr18:78,213,067...78,245,677
Ensembl chr18:78,202,342...78,258,535 Ensembl chr18:78,202,342...78,258,535
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Il1rn
interleukin 1 receptor antagonist
ISO
protein:increased expression:urine (human)
RGD
PMID:8640042
RGD:6907372
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il3
interleukin 3
IEP
mRNA:increased expression:kidney
RGD
PMID:18214547
RGD:2317665
NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
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Pgf
placental growth factor
ISO
protein:decreased expression:plasma
RGD
PMID:20213923
RGD:6483586
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
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Pim1
Pim-1 proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23565217
NCBI chr20:7,554,921...7,559,174
Ensembl chr20:7,554,921...7,559,174
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Retn
resistin
ISO
protein:increased expression:plasma
RGD
PMID:20178460
RGD:7207160
NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620
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Tlr1
toll-like receptor 1
susceptibility
ISO
DNA:snp:cds:p.S602I (human)
RGD
PMID:19543401
RGD:7246906
NCBI chr14:43,384,127...43,396,765
Ensembl chr14:43,384,932...43,397,125
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