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
ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase
ISO
protein:increased activity:kidney:
RGD
PMID:15629889
RGD:8693572
NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675
G
ACE
angiotensin I converting enzyme
treatment
ISO
RGD
PMID:21667191
RGD:12880020
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
G
ACTA2
actin alpha 2, smooth muscle
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339
G
ADAM10
ADAM metallopeptidase domain 10
ISO
RGD
PMID:24103556
RGD:13703030
NCBI chr15:58,588,809...58,749,707
Ensembl chr15:58,588,809...58,749,791
G
ADAM12
ADAM metallopeptidase domain 12
ISO
RGD
PMID:24103556
RGD:13703030
NCBI chr10:126,012,391...126,388,477
Ensembl chr10:126,012,381...126,388,477
G
ADAM17
ADAM metallopeptidase domain 17
ISO
RGD
PMID:24103556
RGD:13703030
NCBI chr 2:9,488,486...9,555,830
Ensembl chr 2:9,488,486...9,556,732
G
ADAM19
ADAM metallopeptidase domain 19
ISO
RGD
PMID:24103556
RGD:13703030
NCBI chr 5:157,477,304...157,575,775
Ensembl chr 5:157,395,534...157,575,775
G
ADAMTS1
ADAM metallopeptidase with thrombospondin type 1 motif 1
ISO
RGD
PMID:17583485
RGD:9681748
NCBI chr21:26,835,755...26,845,409
Ensembl chr21:26,835,755...26,845,409
G
ADCY6
adenylate cyclase 6
ISO
RGD
PMID:18971210
RGD:2312654
NCBI chr12:48,766,194...48,789,974
Ensembl chr12:48,766,194...48,789,089
G
ADM
adrenomedullin
ISO
mRNA, protein:increased expression:kidney
RGD
PMID:18945953
RGD:2325637
NCBI chr11:10,305,073...10,307,397
Ensembl chr11:10,305,073...10,307,397
G
AGER
advanced glycosylation end-product specific receptor
ISO
RGD
PMID:23677242
RGD:7243949
NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
G
AGT
angiotensinogen
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26207612
NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
G
AKT1
AKT serine/threonine kinase 1
ISO
RGD
PMID:22085202
RGD:10041001
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
G
ARG1
arginase 1
ISO
mRNA, protein:increased expression:kidney, glomerulus (rat)
RGD
PMID:18552509
RGD:4143282
NCBI chr 6:131,573,226...131,584,329
Ensembl chr 6:131,470,832...131,584,332
G
ARG2
arginase 2
ISO
mRNA, protein:increased expression:kidney, glomerulus (rat)
RGD
PMID:18552509
RGD:4143282
NCBI chr14:67,619,920...67,651,708
Ensembl chr14:67,619,920...67,651,708
G
AVPR2
arginine vasopressin receptor 2
ISO
RGD
PMID:18971210
RGD:2312654
NCBI chr X:153,902,625...153,907,166
Ensembl chr X:153,902,531...153,907,166
G
B2M
beta-2-microglobulin
ISO
protein:increased expression:serum
RGD
PMID:19536607
RGD:6482685
NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851
G
BECN1
beclin 1
ISO
protein:increased expression:cortex of kidney
RGD
PMID:23314838
RGD:11561927
NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350
G
CASP12
caspase 12 (gene/pseudogene)
treatment
ISO
RGD
PMID:25707520
RGD:13782175
NCBI chr11:104,883,286...104,898,460
Ensembl chr11:104,885,718...104,898,670
G
CASP3
caspase 3
treatment
ISO
RGD
PMID:29781318
RGD:13782341
NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062
G
CASP7
caspase 7
treatment
ISO
RGD
PMID:29781318
RGD:13782341
NCBI chr10:113,679,194...113,730,909
Ensembl chr10:113,679,162...113,730,907
G
CASP9
caspase 9
treatment
ISO
RGD
PMID:29781318
RGD:13782341
NCBI chr 1:15,491,401...15,524,912
Ensembl chr 1:15,490,832...15,526,534
G
CAT
catalase
ISO
protein:decreased expression:kidney
RGD
PMID:21305585
RGD:5130876
NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
G
CCL11
C-C motif chemokine ligand 11
IEP
RGD
PMID:15673311
RGD:7248411
NCBI chr17:34,285,742...34,288,334
Ensembl chr17:34,285,742...34,288,334
G
CCL2
C-C motif chemokine ligand 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
G
CCL20
C-C motif chemokine ligand 20
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr 2:227,813,842...227,817,556
Ensembl chr 2:227,805,739...227,817,564
G
CCN2
cellular communication network factor 2
ISO
mRNA:increased expression:kidney (rat)
RGD
PMID:18987110
RGD:2314607
NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
G
CD14
CD14 molecule
ISO
mRNA,protein:increased expression:kidney
RGD
PMID:10966493
RGD:7204444
NCBI chr 5:140,631,732...140,633,701
Ensembl chr 5:140,631,728...140,633,700
G
CDH1
cadherin 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:31697999
NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
G
CFL1
cofilin 1
ISO
protein:increased expression:inner medulla of kidney (rat)
RGD
PMID:24761003
RGD:11570413
NCBI chr11:65,854,673...65,858,180
Ensembl chr11:65,823,022...65,862,026
G
CLTRN
collectrin, amino acid transport regulator
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12887829
NCBI chr X:15,627,318...15,675,644
Ensembl chr X:15,627,318...15,675,012
G
COL1A1
collagen type I alpha 1 chain
ISO
mRNA:increased expression:kidney
RGD
PMID:20660018
RGD:5688341
NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
G
COL1A2
collagen type I alpha 2 chain
ISO
mRNA:increased expression:kidney
RGD
PMID:20660018
RGD:5688341
NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
G
COL3A1
collagen type III alpha 1 chain
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17164399
NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
G
CSF1
colony stimulating factor 1
ISO
mRNA:increased expression:kidney
RGD
PMID:23628901 PMID:16951369
RGD:7257564 , RGD:7257574
NCBI chr 1:109,910,506...109,930,992
Ensembl chr 1:109,910,242...109,930,992
G
CSF1R
colony stimulating factor 1 receptor
ISO
protein:increased expression:kidney, macrophage
RGD
PMID:16951369
RGD:7257574
NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372
G
CYP2J2
cytochrome P450 family 2 subfamily J member 2
ISO
RGD
PMID:25840911
RGD:12904676
NCBI chr 1:59,893,308...59,969,212
Ensembl chr 1:59,893,308...59,926,773
G
DDIT3
DNA damage inducible transcript 3
treatment
ISO
RGD
PMID:25707520
RGD:13782175
NCBI chr12:57,516,588...57,520,517
Ensembl chr12:57,516,588...57,521,737
G
DRD1
dopamine receptor D1
ISO
protein:decreased expression:kidney (rat)
RGD
PMID:14612384
RGD:7248457
NCBI chr 5:175,440,036...175,444,182
Ensembl chr 5:175,440,036...175,444,182
G
EDN1
endothelin 1
ISO EXP
mRNA, protein:increased expression:renal tubule, renal interstitium (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26207612 PMID:12887768
RGD:8662268
NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
G
FBN1
fibrillin 1
treatment
ISO
protein:increased expression:kidney (mouse)
RGD
PMID:17200203 PMID:17200203
RGD:7365047 , RGD:7365047
NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
G
FN1
fibronectin 1
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:28318631 PMID:12218318
RGD:7205473
NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
G
GFER
growth factor, augmenter of liver regeneration
ISO
RGD
PMID:24844766
RGD:13506791
NCBI chr16:1,984,193...1,987,749
Ensembl chr16:1,984,193...1,987,749
G
GJA4
gap junction protein alpha 4
ISO
mRNA:increased expression:kidney:
RGD
PMID:12644912
RGD:7207847
NCBI chr 1:34,792,999...34,795,747
Ensembl chr 1:34,792,999...34,795,747
G
GJA5
gap junction protein alpha 5
ISO
mRNA:increased expression:kidney
RGD
PMID:12644912
RGD:7207847
NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362
G
GJB6
gap junction protein beta 6
ISO
mRNA:increased expression:kidney:
RGD
PMID:12644912
RGD:7207847
NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365
G
HAVCR1
hepatitis A virus cellular receptor 1
ISO
mRNA:increased expression:kidney tubule:
RGD
PMID:22257277
RGD:7245953
NCBI chr 5:157,029,413...157,069,407
Ensembl chr 5:157,026,742...157,069,396
G
HES1
hes family bHLH transcription factor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr 3:194,136,148...194,138,732
Ensembl chr 3:194,136,148...194,138,732
G
HEY1
hes related family bHLH transcription factor with YRPW motif 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr 8:79,764,010...79,767,767
Ensembl chr 8:79,762,371...79,767,857
G
HEY2
hes related family bHLH transcription factor with YRPW motif 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr 6:125,749,632...125,761,269
Ensembl chr 6:125,747,664...125,761,269
G
HIPK2
homeodomain interacting protein kinase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr 7:139,561,570...139,777,998
Ensembl chr 7:139,561,570...139,777,998
G
HSD11B2
hydroxysteroid 11-beta dehydrogenase 2
ISO
protein:decreased expression:kidney
RGD
PMID:17475897
RGD:2308940
NCBI chr16:67,429,801...67,437,553
Ensembl chr16:67,430,652...67,437,553
G
HSPA5
heat shock protein family A (Hsp70) member 5
treatment
ISO
RGD
PMID:25707520
RGD:13782175
NCBI chr 9:125,234,853...125,241,343
Ensembl chr 9:125,234,853...125,241,382
G
ICAM1
intercellular adhesion molecule 1
ISO
protein:increased expression:renal endothelium, epithelium, interstitium
RGD
PMID:10930117
RGD:11522713
NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
G
IFNG
interferon gamma
ISO
RGD
PMID:21216449
RGD:6893456
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
G
IL1B
interleukin 1 beta
ISO
mRNA, protein:increased expression:kidney (mouse)
RGD
PMID:22048127 PMID:21370451
RGD:7175301 , RGD:7175323
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
G
IL1RN
interleukin 1 receptor antagonist
IDA ISO
mouse model treated with human protein
RGD
PMID:21975862 PMID:11123344
RGD:6906925 , RGD:6909121
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
G
IRF1
interferon regulatory factor 1
ISO
mRNA:increased expression:kidney
RGD
PMID:12787392
RGD:2317694
NCBI chr 5:132,481,609...132,490,773
Ensembl chr 5:132,440,440...132,508,719
G
IRF5
interferon regulatory factor 5
treatment
ISO
RGD
PMID:31177020
RGD:40924651
NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038
G
KEAP1
kelch like ECH associated protein 1
ISO
protein:altered expression:kidney cortex (rat)
RGD
PMID:20734248
RGD:5133246
NCBI chr19:10,486,125...10,503,356
Ensembl chr19:10,486,125...10,503,558
G
LUM
lumican
ISO
mRNA:increased expression:kidney
RGD
PMID:12787392
RGD:2317694
NCBI chr12:91,102,629...91,111,494
Ensembl chr12:91,102,629...91,111,494
G
MAPK1
mitogen-activated protein kinase 1
treatment
ISO
RGD
PMID:28063381
RGD:13800569
NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
G
MAPK3
mitogen-activated protein kinase 3
treatment
ISO
RGD
PMID:28063381
RGD:13800569
NCBI chr16:30,114,105...30,123,220
Ensembl chr16:30,114,105...30,123,506
G
MIR494
microRNA 494
ISO
RGD
PMID:25854542
RGD:156420140
NCBI chr14:101,029,634...101,029,714
Ensembl chr14:101,029,634...101,029,714
G
MMP7
matrix metallopeptidase 7
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr11:102,520,508...102,530,747
Ensembl chr11:102,520,508...102,530,750
G
MTOR
mechanistic target of rapamycin kinase
ISO
RGD
PMID:22085202
RGD:10041001
NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
G
MUC20
mucin 20, cell surface associated
ISO
RGD
PMID:14565953
RGD:7364790
NCBI chr 3:195,720,978...195,733,551
Ensembl chr 3:195,720,884...195,741,123
G
NOS2
nitric oxide synthase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26207612
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
G
NOS3
nitric oxide synthase 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26207612
NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
G
NPPA
natriuretic peptide A
ISO EXP
CTD Direct Evidence: marker/mechanism protein, mRNA:increased expression:plasma, kidney:
CTD RGD
PMID:26207612 PMID:19223006 PMID:19223006
RGD:7247722 , RGD:7247722
NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345
G
NPPB
natriuretic peptide B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26207612
NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945
G
NPPC
natriuretic peptide C
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26207612
NCBI chr 2:231,921,809...231,926,396
Ensembl chr 2:231,921,809...231,926,396
G
NPR1
natriuretic peptide receptor 1
ISO
RGD
PMID:19223006
RGD:7247722
NCBI chr 1:153,678,688...153,693,992
Ensembl chr 1:153,678,688...153,693,992
G
NQO1
NAD(P)H quinone dehydrogenase 1
ISO
mRNA:increased expression:kidney
RGD
PMID:20734248
RGD:5133246
NCBI chr16:69,709,401...69,726,560
Ensembl chr16:69,706,996...69,726,668
G
PAK2
p21 (RAC1) activated kinase 2
ISO
protein:increased activity:kidney:
RGD
PMID:15629889
RGD:8693572
NCBI chr 3:196,739,857...196,832,647
Ensembl chr 3:196,739,857...196,832,647
G
PARP1
poly(ADP-ribose) polymerase 1
treatment
ISO
RGD
PMID:29781318
RGD:13782341
NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154
G
PDGFB
platelet derived growth factor subunit B
ISO
mRNA:increased expression:kidney:
RGD
PMID:10644908
RGD:10449497
NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
G
POSTN
periostin
ISO
mRNA,protein:increased expression:kidney:
RGD
PMID:22167593
RGD:10040972
NCBI chr13:37,562,585...37,598,768
Ensembl chr13:37,562,583...37,598,844
G
RELA
RELA proto-oncogene, NF-kB subunit
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090
G
RELB
RELB proto-oncogene, NF-kB subunit
ISO
protein:increased activity:kidney
RGD
PMID:9328931
RGD:7777163
NCBI chr19:45,001,464...45,038,192
Ensembl chr19:45,001,461...45,038,192
G
ROMO1
reactive oxygen species modulator 1
ISO
mRNA,protein:increased expression:kidney
RGD
PMID:28791399
RGD:13463462
NCBI chr20:35,699,405...35,700,980
Ensembl chr20:35,699,272...35,700,984
G
SELL
selectin L
ameliorates
ISO
RGD
PMID:10398147
RGD:597015755
NCBI chr 1:169,690,667...169,711,620
Ensembl chr 1:169,690,665...169,711,702
G
SERPINE1
serpin family E member 1
treatment
ISO EXP
CTD Direct Evidence: marker/mechanism mRNA:increased expression:kidney (rat)
CTD RGD
PMID:28318631 PMID:12365557 PMID:11832778
RGD:8547941 , RGD:8547912
NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
G
SHH
sonic hedgehog signaling molecule
ISO
mRNA, protein:increased expression:nephron tubule epithelium
RGD
PMID:22302193
RGD:12859047
NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
G
SKIL
SKI like proto-oncogene
ISO
protein:decreased expression:kidney
RGD
PMID:19382458
RGD:2308888
NCBI chr 3:170,357,715...170,396,849
Ensembl chr 3:170,357,342...170,396,835
G
SMAD3
SMAD family member 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173
G
SNAI1
snail family transcriptional repressor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr20:49,982,980...49,988,886
Ensembl chr20:49,982,980...49,988,886
G
TGFB1
transforming growth factor beta 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17164399
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
G
TGFB2
transforming growth factor beta 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17164399
NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
G
TLR9
toll like receptor 9
ISO
mRNA:increased expression:kidney (mouse)
RGD
PMID:21544241
RGD:7246895
NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
G
TNF
tumor necrosis factor
ISO
RGD
PMID:19541932
RGD:7245519
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
G
TNFRSF11B
TNF receptor superfamily member 11b
ISO
mRNA:increased expression:tibia
RGD
PMID:22943310
RGD:7205482
NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885
G
TNFRSF1A
TNF receptor superfamily member 1A
ISO
RGD
PMID:19541932
RGD:7245519
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
G
TNFRSF1B
TNF receptor superfamily member 1B
ISO
RGD
PMID:19541932 PMID:10564241
RGD:7245519 , RGD:7245536
NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
G
BMP4
bone morphogenetic protein 4
IAGP
DNA:mutations:cds: c.485G> A (p.R162Q), c.1167T> C(human)
RGD
PMID:21927809
RGD:13446406
NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
G
MMP9
matrix metallopeptidase 9
treatment
IEP
RGD
PMID:27448803
RGD:13204792
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
G
TBX18
T-box transcription factor 18
IAGP EXP
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2 | ClinVar Annotator: match by term: TBX18-related condition CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pelvi-ureteric junction obstruction
OMIM ClinVar CTD
PMID:25741868 PMID:25741890 PMID:26235987 PMID:28492532 PMID:30143558
NCBI chr 6:84,732,496...84,764,598
Ensembl chr 6:84,687,351...84,764,598
G
TIMP1
TIMP metallopeptidase inhibitor 1
treatment
IEP
RGD
PMID:27448803
RGD:13204792
NCBI chr X:47,582,436...47,586,789
Ensembl chr X:47,582,408...47,586,789
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all