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.
G
Ace
angiotensin I converting enzyme
treatment
IEP IDA
RGD
PMID:22342460 PMID:20630208
RGD:6893471 , RGD:8157609
NCBI chr10:91,410,129...91,430,246
Ensembl chr10:91,409,819...91,430,942
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Adm
adrenomedullin
ISO
protein:increased expression:plasma
RGD
PMID:15284680
RGD:1625303
NCBI chr 1:174,164,178...174,182,372
Ensembl chr 1:174,178,773...174,182,371
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Adrb1
adrenoceptor beta 1
IMP IDA
RGD
PMID:17278011 PMID:15592645
RGD:7241568 , RGD:7241580
NCBI chr 1:265,777,103...265,780,114
Ensembl chr 1:265,766,079...265,849,237
G
Agtr1a
angiotensin II receptor, type 1a
IMP IEP
mRNA:decreased expression:kidney:
RGD
PMID:21326341 PMID:9644212 PMID:16796846
RGD:5129177 , RGD:10047119 , RGD:5147455
NCBI chr17:34,383,397...34,435,523
Ensembl chr17:34,381,467...34,435,660
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Agtr1b
angiotensin II receptor, type 1b
treatment
IEP
mRNA:increased expression:kidney:
RGD
PMID:9644212
RGD:10047119
NCBI chr 2:102,844,969...102,920,232
Ensembl chr 2:104,773,930...104,849,310
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Agtr2
angiotensin II receptor, type 2
IDA IMP
RGD
PMID:21189405 PMID:18158356
RGD:6903867 , RGD:6903868
NCBI chr X:116,914,320...116,918,504
Ensembl chr X:116,913,656...116,918,745
G
Avpr1a
arginine vasopressin receptor 1A
IEP
mRNA:altered expression:brain
RGD
PMID:15613739
RGD:2300323
NCBI chr 7:59,999,743...60,003,667
Ensembl chr 7:59,999,738...60,003,837
G
Camk2d
calcium/calmodulin-dependent protein kinase II delta
treatment
IEP
RGD
PMID:26619200
RGD:401940196
NCBI chr 2:217,698,324...217,961,898
Ensembl chr 2:217,698,551...217,960,276
G
Ccnd2
cyclin D2
IEP
protein:increased expression:left ventricle:
RGD
PMID:26300251
RGD:151664604
NCBI chr 4:161,653,048...161,675,422
Ensembl chr 4:161,653,048...161,680,301 Ensembl chr 4:161,653,048...161,680,301
G
Cma1
chymase 1
IEP
protein:increased activity:kidney (rat)
RGD
PMID:15869764
RGD:1581745
NCBI chr15:29,417,451...29,420,233
Ensembl chr15:33,387,351...33,390,133
G
Cxcl10
C-X-C motif chemokine ligand 10
IDA
RGD
PMID:17062848
RGD:2311383
NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,989,018...15,991,261
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Cxcr3
C-X-C motif chemokine receptor 3
IDA
RGD
PMID:17062848
RGD:2311383
NCBI chr X:70,884,293...70,886,944
Ensembl chr X:70,883,958...70,886,871
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Dyrk1a
dual specificity tyrosine phosphorylation regulated kinase 1A
treatment
IEP
RGD
PMID:26619200
RGD:401940196
NCBI chr11:47,360,824...47,479,033
Ensembl chr11:47,360,850...47,479,033
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Eif4g2
eukaryotic translation initiation factor 4, gamma 2
IEP
mRNA:increased expression:heart left ventricle
RGD
PMID:12708758
RGD:10755511
NCBI chr 1:174,616,102...174,628,252
Ensembl chr 1:174,616,103...174,628,252
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Fn1
fibronectin 1
IDA
RGD
PMID:17324142
RGD:7205461
NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:80,645,507...80,714,137
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G6pd
glucose-6-phosphate dehydrogenase
treatment
IEP
RGD
PMID:22684021
RGD:10449172
NCBI chr X:157,352,364...157,372,144
Ensembl chr X:157,352,373...157,372,144
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Gja1
gap junction protein, alpha 1
IEP
RGD
PMID:11422751
RGD:7207851
NCBI chr20:36,302,490...36,315,010
Ensembl chr20:36,302,352...36,319,689
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Gja5
gap junction protein, alpha 5
IEP
RGD
PMID:11422751
RGD:7207851
NCBI chr 2:187,291,227...187,310,770
Ensembl chr 2:187,234,674...187,318,512
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Havcr1
hepatitis A virus cellular receptor 1
ISO
protein:increased expression:urine:
RGD
PMID:22923545
RGD:7245500
NCBI chr10:31,619,914...31,652,955
Ensembl chr10:31,619,897...31,653,268
G
Hdac8
histone deacetylase 8
treatment
IEP
RGD
PMID:27673327
RGD:13208809
NCBI chr X:71,425,240...71,632,865
Ensembl chr X:71,394,928...71,632,865
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Lama2
laminin subunit alpha 2
IEP
mRNA:decreased expression:heart
RGD
PMID:10773239
RGD:1600206
NCBI chr 1:19,492,126...20,140,056
Ensembl chr 1:19,244,599...20,140,056
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Lcn2
lipocalin 2
ISO
protein:increased expression:urine,plasma
RGD
PMID:22923545
RGD:7245500
NCBI chr 3:36,078,432...36,081,851
Ensembl chr 3:36,078,436...36,081,842
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Mpo
myeloperoxidase
IEP
protein:increased activity:heart, brain, kidney
RGD
PMID:19549002
RGD:7174698
NCBI chr10:73,092,124...73,102,057
Ensembl chr10:73,092,400...73,102,056
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Nos1
nitric oxide synthase 1
IEP
RGD
PMID:16788145
RGD:1642130
NCBI chr12:44,276,011...44,456,371
Ensembl chr12:44,287,614...44,371,837
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Nos3
nitric oxide synthase 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18641695
NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:11,686,268...11,706,664
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Pdgfa
platelet derived growth factor subunit A
IEP
mRNA:increased expression:vascular associated smooth muscle cell
RGD
PMID:17439406
RGD:2289672
NCBI chr12:20,759,366...20,780,337
Ensembl chr12:20,754,208...20,780,322
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Prl
prolactin
IEP
protein:increased expression:plasma
RGD
PMID:17316702
RGD:1642574
NCBI chr17:38,287,355...38,298,234
Ensembl chr17:38,288,162...38,298,217
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Ptger3
prostaglandin E receptor 3
IEP
protein:increased expression:kidney (rat)
RGD
PMID:16788145
RGD:1642130
NCBI chr 2:249,264,985...249,409,966
Ensembl chr 2:249,264,985...249,409,846
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Ptgs1
prostaglandin-endoperoxide synthase 1
IMP
RGD
PMID:17766473
RGD:2300258
NCBI chr 3:39,981,419...40,002,993
Ensembl chr 3:39,981,415...40,002,990
G
Rela
RELA proto-oncogene, NF-kB subunit
IEP
protein:increased expression:nucleus, kidney
RGD
PMID:18032469
RGD:2298840
NCBI chr 1:212,354,336...212,364,815
Ensembl chr 1:212,333,035...212,364,817
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Ren
renin
ISO
mRNA:increased expression:renal cortex (mouse) protein:increased activity:blood plasma (human)
RGD
PMID:22378822 PMID:2240003
RGD:6892688 , RGD:125097504
NCBI chr13:47,348,312...47,359,539
Ensembl chr13:47,348,143...47,359,543
G
Slc9a1
solute carrier family 9 member A1
treatment
IEP
RGD
PMID:12218313
RGD:727424
NCBI chr 5:150,859,412...150,913,525
Ensembl chr 5:150,860,228...150,913,517
G
Slc9a3
solute carrier family 9 member A3
treatment
IEP
RGD
PMID:12218313
RGD:727424
NCBI chr 1:30,953,215...30,996,209
Ensembl chr 1:30,953,216...30,996,002
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Spp1
secreted phosphoprotein 1
IDA
RGD
PMID:12620700
RGD:1581326
NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,613,576...5,619,820
G
Srsf1
serine and arginine rich splicing factor 1
treatment
IEP
RGD
PMID:26619200
RGD:401940196
NCBI chr10:73,335,519...73,342,549
Ensembl chr10:73,336,422...73,342,548
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