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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Agt
angiotensinogen
treatment
ISO
RGD
PMID:12399452 PMID:12399452
RGD:1300273 , RGD:1300273
NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977
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Aqp2
aquaporin 2
ISO
DNA:mutation:exon:g.767C>T(mouse)
RGD
PMID:16641094
RGD:2314310
NCBI chr 7:132,590,286...132,595,321
Ensembl chr 7:130,711,413...130,716,468
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Egr1
early growth response 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25015655
NCBI chr18:26,737,078...26,740,877
Ensembl chr18:26,462,981...26,466,766
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Fbn1
fibrillin 1
ISO
associated with Ureteral Obstruction; protein:altered expression:kidney (mouse)
RGD
PMID:15277214
RGD:7387264
NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889
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Flna
filamin A
ISO
ClinVar Annotator: match by term: Hydronephrosis
ClinVar
PMID:28492532
NCBI chr X:157,159,051...157,185,559
Ensembl chr X:152,007,758...152,031,052
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Havcr1
hepatitis A virus cellular receptor 1
ISO
protein:increased expression:urine:
RGD
PMID:21279810
RGD:7245985
NCBI chr10:31,619,914...31,652,955
Ensembl chr10:31,119,088...31,151,698
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27469509
NCBI chr 1:143,447,925...143,467,248
Ensembl chr 1:134,029,772...134,058,025
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Il1b
interleukin 1 beta
IEP
protein:increased expression:renal inner medulla, urine (rat)
RGD
PMID:22150692
RGD:7175264
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
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Lcn2
lipocalin 2
ISO
protein:increased expression:urine:
RGD
PMID:21279810
RGD:7245985
NCBI chr 3:36,078,432...36,081,851
Ensembl chr 3:15,680,687...15,684,095
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Pdcd1
programmed cell death 1
ISO
RGD
PMID:16352741
RGD:7248681
NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:94,418,791...94,431,937
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Ptger1
prostaglandin E receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30641090
NCBI chr19:41,374,983...41,379,593
Ensembl chr19:24,467,532...24,473,559
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Ptges
prostaglandin E synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22430074 PMID:25015655
NCBI chr 3:34,575,643...34,586,987
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22430074
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188
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Slc34a1
solute carrier family 34 member 1
ISO
DNA:missense mutations:exon:p.A499V, p.V528M (mouse)
RGD
PMID:18550648
RGD:7243122
NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,218,876...9,233,852
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Tbx4
T-box transcription factor 4
ISO
ClinVar Annotator: match by term: Hydronephrosis
ClinVar
PMID:25741868 PMID:31965066
NCBI chr10:71,228,145...71,258,222
Ensembl chr10:70,731,163...70,760,825
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Tbxas1
thromboxane A synthase 1
IEP
mRNA:increased expression:kidney
RGD
PMID:9261862
RGD:634088
NCBI chr 4:68,631,841...68,803,959
Ensembl chr 4:67,665,007...67,837,096
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Xdh
xanthine dehydrogenase
ISO
ClinVar Annotator: match by term: Hydronephrosis
ClinVar
PMID:25741868 PMID:28492532 PMID:30755392
NCBI chr 6:27,282,319...27,344,022
Ensembl chr 6:21,530,113...21,592,268
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Atp7a
ATPase copper transporting alpha
ISO
ClinVar Annotator: match by term: Au-Kline syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:75,159,635...75,267,094
Ensembl chr X:71,094,202...71,198,354
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Kabuki-like syndrome
ClinVar
PMID:25741868
NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888
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Hnrnpk
heterogeneous nuclear ribonucleoprotein K
ISO
ClinVar Annotator: match by term: Au-Kline syndrome | ClinVar Annotator: match by term: HNRNPK-related condition | ClinVar Annotator: match by term: Okamoto syndrome
OMIM ClinVar
PMID:18414213 PMID:25741868 PMID:26173930 PMID:26220823 PMID:26954065 PMID:28374925 PMID:28492532 PMID:28771707 PMID:29904177 PMID:30793470 PMID:30998304 PMID:32222014 PMID:36130591 PMID:39033378 More...
NCBI chr17:6,269,302...6,280,429
Ensembl chr17:6,262,998...6,274,997
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Med13l
mediator complex subunit 13L
ISO
ClinVar Annotator: match by term: Kabuki-like syndrome
ClinVar
PMID:25741868
NCBI chr12:37,807,596...38,004,886
Ensembl chr12:37,808,285...38,004,473
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Vhl
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Okamoto syndrome
ClinVar
PMID:7563486 PMID:7987306 PMID:8707293 PMID:8772572 PMID:8956040 PMID:9829911 PMID:10878807 PMID:11331612 PMID:11331613 PMID:12000816 PMID:12097293 PMID:12393546 PMID:12414898 PMID:12844285 PMID:12944410 PMID:15574766 PMID:15642680 PMID:16452184 PMID:16585181 PMID:17700531 PMID:17898043 PMID:18567581 PMID:18836774 PMID:19030229 PMID:19228690 PMID:19602254 PMID:19906784 PMID:23772956 PMID:25741868 PMID:26845104 PMID:26846855 PMID:27517496 PMID:28235946 PMID:28492532 PMID:28873162 PMID:30890701 PMID:31980715 PMID:34628056 PMID:35668420 More...
NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:146,772,468...146,779,377
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Bmp4
bone morphogenetic protein 4
ISO
DNA:mutations:cds: c.485G> A (p.R162Q), c.1167T> C(human)
RGD
PMID:21927809
RGD:13446406
NCBI chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306
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Mmp9
matrix metallopeptidase 9
treatment
ISO
RGD
PMID:27448803
RGD:13204792
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
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Tbx18
T-box transcription factor 18
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2 | ClinVar Annotator: match by term: Pelvi-ureteric junction obstruction | ClinVar Annotator: match by term: TBX18-related condition
OMIM CTD ClinVar
PMID:25741868 PMID:25741890 PMID:26235987 PMID:28492532 PMID:30143558
NCBI chr 8:97,531,960...97,559,988
Ensembl chr 8:88,652,054...88,680,058
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Timp1
TIMP metallopeptidase inhibitor 1
treatment
ISO
RGD
PMID:27448803
RGD:13204792
NCBI chr X:3,766,509...3,772,578
Ensembl chr X:1,212,972...1,217,664
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