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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ACE
angiotensin I converting enzyme
treatment
ISO
RGD
PMID:20630208 PMID:22342460
RGD:6893471 RGD:8157609
NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
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ADM
adrenomedullin
ISO
protein:increased expression:plasma
RGD
PMID:15284680
RGD:1625303
NCBI chr11:10,437,712...10,440,053
Ensembl chr11:10,165,418...10,167,842
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ADRB1
adrenoceptor beta 1
ISO
RGD
PMID:15592645 PMID:17278011
RGD:7241568 RGD:7241580
NCBI chr10:110,642,491...110,646,595
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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 chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380
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AGTR2
angiotensin II receptor type 2
ISO
RGD
PMID:18158356 PMID:21189405
RGD:6903867 RGD:6903868
NCBI chr X:105,252,903...105,257,171
Ensembl chr X:115,671,594...115,672,685
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AVPR1A
arginine vasopressin receptor 1A
ISO
mRNA:altered expression:brain
RGD
PMID:15613739
RGD:2300323
NCBI chr12:25,793,633...25,803,026
Ensembl chr12:26,065,882...26,075,972
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CAMK2D
calcium/calmodulin dependent protein kinase II delta
treatment
ISO
RGD
PMID:26619200
RGD:401940196
NCBI chr 4:105,957,773...106,271,887
Ensembl chr 4:116,523,850...116,835,387
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CCND2
cyclin D2
ISO
protein:increased expression:left ventricle:
RGD
PMID:26300251
RGD:151664604
NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551
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CMA1
chymase 1
ISO
protein:increased activity:kidney (rat)
RGD
PMID:15869764
RGD:1581745
NCBI chr14:5,277,269...5,280,335
Ensembl chr14:23,400,345...23,403,548
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CXCL10
C-X-C motif chemokine ligand 10
ISO
RGD
PMID:17062848
RGD:2311383
NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606
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CXCR3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:17062848
RGD:2311383
NCBI chr X:60,880,759...60,883,355
Ensembl chr X:70,933,160...70,935,756
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DYRK1A
dual specificity tyrosine phosphorylation regulated kinase 1A
treatment
ISO
RGD
PMID:26619200
RGD:401940196
NCBI chr21:23,729,204...23,878,820
Ensembl chr21:37,137,253...37,231,987
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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 chr11:10,961,216...10,973,210
Ensembl chr11:10,656,795...10,668,956
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FN1
fibronectin 1
ISO
RGD
PMID:17324142
RGD:7205461
NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003
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G6PD
glucose-6-phosphate dehydrogenase
treatment
ISO
RGD
PMID:22684021
RGD:10449172
NCBI chr X:143,972,798...143,988,960
Ensembl chr X:153,843,092...153,860,674
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GJA1
gap junction protein alpha 1
ISO
RGD
PMID:11422751
RGD:7207851
NCBI chr 6:119,213,513...119,227,617
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GJA5
gap junction protein alpha 5
ISO
RGD
PMID:11422751
RGD:7207851
NCBI chr 1:123,200,111...123,224,626
Ensembl chr 1:112,328,337...112,329,413
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HAVCR1
hepatitis A virus cellular receptor 1
ISO
protein:increased expression:urine:
RGD
PMID:22923545
RGD:7245500
NCBI chr 5:152,429,337...152,459,800
Ensembl chr 5:158,413,073...158,442,481
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HDAC8
histone deacetylase 8
treatment
ISO
RGD
PMID:27673327
RGD:13208809
NCBI chr X:61,565,790...61,811,588
Ensembl chr X:71,649,341...71,894,896
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LAMA2
laminin subunit alpha 2
ISO
mRNA:decreased expression:heart
RGD
PMID:10773239
RGD:1600206
NCBI chr 6:126,672,013...127,307,870
Ensembl chr 6:130,781,781...131,415,337
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LCN2
lipocalin 2
ISO
protein:increased expression:urine,plasma
RGD
PMID:22923545
RGD:7245500
NCBI chr 9:99,259,278...99,274,494
Ensembl chr 9:127,940,799...127,944,798
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LOC100988373
LINE-1 retrotransposable element ORF2 protein
treatment
ISO
RGD
PMID:12218313
RGD:727424
NCBI chr 5:444,720...500,121
Ensembl chr 5:597,897...647,464
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MPO
myeloperoxidase
ISO
protein:increased activity:heart, brain, kidney
RGD
PMID:19549002
RGD:7174698
NCBI chr17:52,333,882...52,357,838
Ensembl chr17:57,201,073...57,212,111
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NOS1
nitric oxide synthase 1
ISO
RGD
PMID:16788145
RGD:1642130
NCBI chr12:114,784,232...114,938,385
Ensembl chr12:118,163,655...118,314,005
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NOS3
nitric oxide synthase 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18641695
NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
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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 chr 7:648,722...672,023
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PRL
prolactin
ISO
protein:increased expression:plasma
RGD
PMID:17316702
RGD:1642574
NCBI chr 6:22,109,974...22,125,433
Ensembl chr 6:22,450,132...22,459,829
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PTGER3
prostaglandin E receptor 3
ISO
protein:increased expression:kidney (rat)
RGD
PMID:16788145
RGD:1642130
NCBI chr 1:70,076,610...70,271,475
Ensembl chr 1:72,059,441...72,254,063
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PTGS1
prostaglandin-endoperoxide synthase 1
ISO
RGD
PMID:17766473
RGD:2300258
NCBI chr 9:93,495,365...93,517,557
Ensembl chr 9:121,837,095...121,859,283
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RELA
RELA proto-oncogene, NF-kB subunit
ISO
protein:increased expression:nucleus, kidney
RGD
PMID:18032469
RGD:2298840
NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868
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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 chr 1:179,757,653...179,769,530
Ensembl chr 1:184,046,117...184,057,393
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SLC9A1
solute carrier family 9 member A1
treatment
ISO
RGD
PMID:12218313
RGD:727424
NCBI chr 1:26,359,818...26,418,910
Ensembl chr 1:27,414,937...27,475,089
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SPP1
secreted phosphoprotein 1
ISO
RGD
PMID:12620700
RGD:1581326
NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935
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SRSF1
serine and arginine rich splicing factor 1
treatment
ISO
RGD
PMID:26619200
RGD:401940196
NCBI chr17:52,083,676...52,087,454
Ensembl chr17:56,937,295...56,944,425
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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 chr14:72,601,649...72,675,784
Ensembl chr14:91,945,392...92,019,231
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all