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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Adm
adrenomedullin
ISO
protein:increased expression:plasma
RGD
PMID:15284680
RGD:1625303
NCBI chrNW_004955414:25,951,473...25,953,593
Ensembl chrNW_004955414:25,951,349...25,953,645
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Adrb1
adrenoceptor beta 1
ISO
RGD
PMID:15592645 PMID:17278011
RGD:7241568 RGD:7241580
NCBI chrNW_004955431:19,025,663...19,027,026
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Agtr1
angiotensin II receptor type 1
ISO
mRNA:decreased expression:kidney:
RGD
PMID:9644212 PMID:16796846 PMID:21326341
RGD:10047119 RGD:5129177 RGD:5147455
NCBI chrNW_004955474:8,733,942...8,781,305
Ensembl chrNW_004955474:8,733,942...8,781,255
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Agtr2
angiotensin II receptor type 2
ISO
RGD
PMID:18158356 PMID:21189405
RGD:6903867 RGD:6903868
NCBI chrNW_004955534:3,653,112...3,654,248
Ensembl chrNW_004955534:3,653,157...3,654,248
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Avpr1a
arginine vasopressin receptor 1A
ISO
mRNA:altered expression:brain
RGD
PMID:15613739
RGD:2300323
NCBI chrNW_004955458:10,245,325...10,253,209
Ensembl chrNW_004955458:10,245,111...10,253,209
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Camk2d
calcium/calmodulin dependent protein kinase II delta
treatment
ISO
RGD
PMID:26619200
RGD:401940196
NCBI chrNW_004955428:25,583,501...25,880,395
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Ccnd2
cyclin D2
ISO
protein:increased expression:left ventricle:
RGD
PMID:26300251
RGD:151664604
NCBI chrNW_004955413:2,083,351...2,108,450
Ensembl chrNW_004955413:2,083,351...2,103,430
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
RGD
PMID:17062848
RGD:2311383
NCBI chrNW_004955433:748,392...750,890
Ensembl chrNW_004955433:748,284...750,927
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Cxcr3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:17062848
RGD:2311383
NCBI chrNW_004955475:11,148,928...11,152,313
Ensembl chrNW_004955475:11,148,879...11,152,596
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Dyrk1a
dual specificity tyrosine phosphorylation regulated kinase 1A
treatment
ISO
RGD
PMID:26619200
RGD:401940196
NCBI chrNW_004955407:36,456,628...36,588,940
Ensembl chrNW_004955407:36,453,098...36,589,382
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Eif4g2
eukaryotic translation initiation factor 4 gamma 2
ISO
mRNA:increased expression:heart left ventricle
RGD
PMID:12708758
RGD:10755511
NCBI chrNW_004955414:26,389,125...26,399,916
Ensembl chrNW_004955414:26,389,125...26,399,916
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Fn1
fibronectin 1
ISO
RGD
PMID:17324142
RGD:7205461
NCBI chrNW_004955457:629,599...694,948
Ensembl chrNW_004955457:629,518...696,975
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G6pd
glucose-6-phosphate dehydrogenase
treatment
ISO
RGD
PMID:22684021
RGD:10449172
NCBI chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083
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Gja1
gap junction protein alpha 1
ISO
RGD
PMID:11422751
RGD:7207851
NCBI chrNW_004955436:3,612,533...3,618,095
Ensembl chrNW_004955436:3,612,533...3,618,095
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Gja5
gap junction protein alpha 5
ISO
RGD
PMID:11422751
RGD:7207851
NCBI chrNW_004955568:635,319...652,692
Ensembl chrNW_004955568:635,042...653,349
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Havcr1
hepatitis A virus cellular receptor 1
ISO
protein:increased expression:urine:
RGD
PMID:22923545
RGD:7245500
NCBI chrNW_004955408:11,047,679...11,070,492
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Hdac8
histone deacetylase 8
treatment
ISO
RGD
PMID:27673327
RGD:13208809
NCBI chrNW_004955475:11,748,502...12,012,884
Ensembl chrNW_004955475:11,748,365...12,013,241
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Lama2
laminin subunit alpha 2
ISO
mRNA:decreased expression:heart
RGD
PMID:10773239
RGD:1600206
NCBI chrNW_004955436:9,829,777...10,400,101
Ensembl chrNW_004955436:9,830,030...10,399,891
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Mpo
myeloperoxidase
ISO
protein:increased activity:heart, brain, kidney
RGD
PMID:19549002
RGD:7174698
NCBI chrNW_004955451:4,743,744...4,753,358
Ensembl chrNW_004955451:4,743,744...4,753,358
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Nos1
nitric oxide synthase 1
ISO
RGD
PMID:16788145
RGD:1642130
NCBI chrNW_004955455:13,797,557...13,978,402
Ensembl chrNW_004955455:13,797,545...13,972,566
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Nos3
nitric oxide synthase 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18641695
NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
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Pdgfa
platelet derived growth factor subunit A
ISO
mRNA:increased expression:vascular associated smooth muscle cell
RGD
PMID:17439406
RGD:2289672
NCBI chrNW_004955460:8,328,400...8,346,755
Ensembl chrNW_004955460:8,326,891...8,346,550
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Prl
prolactin
ISO
protein:increased expression:plasma
RGD
PMID:17316702
RGD:1642574
NCBI chrNW_004955483:4,495,257...4,503,377
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Ptger3
prostaglandin E receptor 3
ISO
protein:increased expression:kidney (rat)
RGD
PMID:16788145
RGD:1642130
NCBI chrNW_004955423:21,096,926...21,164,435
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Ptgs1
prostaglandin-endoperoxide synthase 1
ISO
RGD
PMID:17766473
RGD:2300258
NCBI chrNW_004955419:5,678,750...5,699,305
Ensembl chrNW_004955419:5,678,694...5,699,305
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
protein:increased expression:nucleus, kidney
RGD
PMID:18032469
RGD:2298840
NCBI chrNW_004955422:19,602,930...19,612,263
Ensembl chrNW_004955422:19,603,345...19,611,516
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Ren
renin
ISO
mRNA:increased expression:renal cortex (mouse) protein:increased activity:blood plasma (human)
RGD
PMID:2240003 PMID:22378822
RGD:125097504 RGD:6892688
NCBI chrNW_004955406:40,016,624...40,026,286
Ensembl chrNW_004955406:40,016,630...40,026,286
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Slc9a1
solute carrier family 9 member A1
treatment
ISO
RGD
PMID:12218313
RGD:727424
NCBI chrNW_004955452:6,409,833...6,467,841
Ensembl chrNW_004955452:6,409,833...6,467,841
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Slc9a3
solute carrier family 9 member A3
treatment
ISO
RGD
PMID:12218313
RGD:727424
NCBI chrNW_004955504:226,192...260,632
Ensembl chrNW_004955504:228,049...260,650
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Spp1
secreted phosphoprotein 1
ISO
RGD
PMID:12620700
RGD:1581326
NCBI chrNW_004955474:1,914,477...1,922,025
Ensembl chrNW_004955474:1,913,829...1,922,016
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Srsf1
serine and arginine rich splicing factor 1
treatment
ISO
RGD
PMID:26619200
RGD:401940196
NCBI chrNW_004955451:4,992,634...4,996,619
Ensembl chrNW_004955451:4,992,634...4,999,029
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Trip11
thyroid hormone receptor interactor 11
ISO
ClinVar Annotator: match by term: Goldblatt syndrome
ClinVar
PMID:20089971 PMID:23956106 PMID:25741868 PMID:28492532 PMID:29872333 PMID:30728324 More...
NCBI chrNW_004955438:14,327,400...14,394,022
Ensembl chrNW_004955438:14,322,576...14,394,022
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all