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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ABCG2A
ATP binding cassette subfamily G member 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD MouseDO
PMID:21821808
NCBI chr 8:130,853,414...130,945,388
Ensembl chr 8:130,889,684...130,945,393
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ALDH16A1
aldehyde dehydrogenase 16 family member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23348497
NCBI chr 6:54,528,905...54,551,645
Ensembl chr 6:54,529,468...54,548,144
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APLN
apelin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:30710622
NCBI chr X:106,236,746...106,246,563
Ensembl chr X:106,236,749...106,246,377
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APOE
apolipoprotein E
susceptibility
ISO
associated with Metabolic Syndrome X; DNA:missense mutations:cds:p.C112R, p.R158C (human)
RGD
PMID:15713714
RGD:1601235
NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330
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HAVCR1
hepatitis A virus cellular receptor 1
ISO
RGD
PMID:23673972
RGD:7244371
NCBI chr16:66,162,318...66,208,868
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HPRT1
hypoxanthine phosphoribosyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23348497
NCBI chr X:110,321,144...110,357,902
Ensembl chr X:110,321,204...110,357,894
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INS
insulin
ISO
RGD
PMID:19033255
RGD:6902897
NCBI chr 2:1,496,842...1,498,052
Ensembl chr 2:1,496,842...1,497,841
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JAK2
Janus kinase 2
treatment
ISO
RGD
PMID:23442673
RGD:10411892
NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148
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LCN2
lipocalin 2
ISO
RGD
PMID:23673972
RGD:7244371
NCBI chr 1:268,609,975...268,614,651
Ensembl chr 1:268,609,887...268,614,644
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SLC22A1
solute carrier family 22 member 1
treatment
ISO
RGD
PMID:21154198 PMID:21909718
RGD:7243180 RGD:7244192
NCBI chr 1:7,340,442...7,365,543
Ensembl chr 1:7,340,126...7,365,520
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SLC22A2
solute carrier family 22 member 2
treatment
ISO
mRNA, protein:decreased expression:kidney
RGD
PMID:15748710 PMID:21154198 PMID:21909718
RGD:7243180 RGD:7243882 RGD:7244192
NCBI chr 1:7,289,278...7,323,418
Ensembl chr 1:7,289,831...7,323,146
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SLC2A9
solute carrier family 2 member 9
ISO
CTD Direct Evidence: marker/mechanism
CTD MouseDO
PMID:18989453
NCBI chr 8:6,211,143...6,367,530
Ensembl chr 8:6,210,478...6,367,496
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SLC5A8
solute carrier family 5 member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20589576
NCBI chr 5:82,973,179...83,088,542
Ensembl chr 5:82,973,284...83,031,157
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STAT3
signal transducer and activator of transcription 3
treatment
ISO
RGD
PMID:23442673
RGD:10411892
NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992
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TGFB1
transforming growth factor beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36850003
NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046
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XDH
xanthine dehydrogenase
treatment
ISO
CTD Direct Evidence: marker/mechanism protein:altered activity:kidney
CTD RGD
PMID:22436129 PMID:22690247 PMID:22856880 PMID:26197582 PMID:29071757
RGD:13208955 RGD:7247638 RGD:7247639 RGD:7247642
NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,987,126...108,053,169
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UMOD
uromodulin
ISO
ClinVar Annotator: match by term: Glomerulocystic kidney disease with hyperuricemia and isosthenuria | ClinVar Annotator: match by term: Medullary cystic kidney disease 2 | ClinVar Annotator: match by term: Medullary cystic kidney disease 2, autosomal dominant | ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 | ClinVar Annotator: match by term: UMOD-Associated Kidney Disease | ClinVar Annotator: match by term: UMOD-related condition | ClinVar Annotator: match by term: Uromodulin-associated kidney disease
OMIM ClinVar
PMID:7396593 PMID:9536098 PMID:10330352 PMID:12205338 PMID:12471200 PMID:12519891 PMID:12629136 PMID:12634862 PMID:14531790 PMID:14569098 PMID:14570709 PMID:15253706 PMID:15589826 PMID:15983957 PMID:16135773 PMID:16883323 PMID:17010121 PMID:17245395 PMID:17576681 PMID:18004297 PMID:19465746 PMID:20151160 PMID:20172860 PMID:20301530 PMID:20472742 PMID:21868615 PMID:22117067 PMID:22693617 PMID:23748428 PMID:23988501 PMID:24961278 PMID:25671765 PMID:25741868 PMID:26467025 PMID:27729211 PMID:27795632 PMID:28492532 PMID:28781372 PMID:28990932 PMID:29100090 PMID:29204651 PMID:29212948 PMID:30099615 PMID:30586318 PMID:30773290 PMID:30976393 PMID:31068150 PMID:31509055 PMID:31822006 PMID:32274456 PMID:32450155 PMID:32926855 PMID:32954071 PMID:33532864 PMID:33574344 PMID:34519781 PMID:35368791 More...
NCBI chr 3:25,473,048...25,492,286
Ensembl chr 3:25,473,162...25,492,278
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HNF1B
HNF1 homeobox B
ISO
ClinVar Annotator: match by term: Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
ClinVar
PMID:9398836 PMID:12148114 PMID:12161522 PMID:15068978 PMID:17878605 PMID:20378641 PMID:25536396 PMID:25700310 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31131422 PMID:33532864 PMID:35846334 More...
NCBI chr12:39,143,119...39,201,631
Ensembl chr12:39,143,121...39,201,631
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MUC1
mucin 1, cell surface associated
ISO
ClinVar Annotator: match by term: MUC1-related condition | ClinVar Annotator: match by term: Tubulointerstitial kidney disease, autosomal dominant, 2
OMIM ClinVar
PMID:15384011 PMID:23396133 PMID:25741868 PMID:33532864
NCBI chr 4:94,626,317...94,631,194
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SEC63
SEC63 homolog, protein translocation regulator
ISO
ClinVar Annotator: match by term: Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:74,003,428...74,078,605
Ensembl chr 1:74,000,688...74,078,582
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UMOD
uromodulin
ISO
ClinVar Annotator: match by term: Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
ClinVar
PMID:20172860 PMID:21868615 PMID:23748428 PMID:25741868 PMID:28492532 PMID:28509303 PMID:28781372 PMID:29204651 PMID:30473401 PMID:30773290 PMID:31068150 PMID:31509055 PMID:31822006 PMID:32274456 PMID:32450155 PMID:32926855 PMID:32954071 More...
NCBI chr 3:25,473,048...25,492,286
Ensembl chr 3:25,473,162...25,492,278
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REN
renin
ISO
ClinVar Annotator: match by term: EARLY-ONSET HYPERURICEMIA, ANEMIA, AND PROGRESSIVE KIDNEY FAILURE | ClinVar Annotator: match by term: REN-related condition | ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4
OMIM ClinVar
PMID:16116425 PMID:19664745 PMID:21084044 PMID:21473025 PMID:22095942 PMID:25741868 PMID:28492532 PMID:32750457 PMID:33532864 More...
NCBI chr 9:64,809,143...64,822,605
Ensembl chr 9:64,809,146...64,822,658
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ABCG5
ATP binding cassette subfamily G member 5
ISO
ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5
ClinVar
PMID:25741868 PMID:27291889 PMID:28492532 PMID:30270055 PMID:30349881 PMID:32702746 More...
NCBI chr 3:96,616,304...96,656,893
Ensembl chr 3:96,616,246...96,656,889
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RUVBL1
RuvB like AAA ATPase 1
ISO
ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5
ClinVar
PMID:25741868 PMID:28492532
NCBI chr13:72,196,219...72,246,514
Ensembl chr13:72,200,511...72,248,582
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SEC61A1
SEC61 translocon subunit alpha 1
ISO
ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5
OMIM ClinVar
PMID:25741868 PMID:27392076 PMID:28492532 PMID:28782633 PMID:33185949
NCBI chr13:72,254,462...72,276,484
Ensembl chr13:72,254,464...72,269,914
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UMOD
uromodulin
ISO
OMIM:162000 | OMIM:613092 | OMIM:614227
MouseDO
NCBI chr 3:25,473,048...25,492,286
Ensembl chr 3:25,473,162...25,492,278
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HNF1B
HNF1 homeobox B
ISO
ClinVar Annotator: match by term: Hyperuricemic nephropathy, familial juvenile type 3
ClinVar
PMID:19639018 PMID:24897035 PMID:25536396 PMID:25741167 PMID:25741868 PMID:26340261 PMID:27615128 PMID:28215227 PMID:28492532 PMID:33434175 More...
NCBI chr12:39,143,119...39,201,631
Ensembl chr12:39,143,121...39,201,631
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ALDH16A1
aldehyde dehydrogenase 16 family member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23348497
NCBI chr 6:54,528,905...54,551,645
Ensembl chr 6:54,529,468...54,548,144
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CCDC160
coiled-coil domain containing 160
ISO
ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
ClinVar
PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 PMID:23975452 PMID:28492532 More...
NCBI chr X:110,159,833...110,170,354
Ensembl chr X:110,159,912...110,170,350
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GPC3
glypican 3
ISO
ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
ClinVar
PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 PMID:23975452 PMID:28492532 More...
NCBI chr X:109,536,495...109,973,605
Ensembl chr X:109,536,504...109,973,607
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HPRT1
hypoxanthine phosphoribosyltransferase 1
ISO
ClinVar Annotator: match by term: HPRT1-Related Disorders | ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
OMIM ClinVar
PMID:1301916 PMID:1483694 PMID:1487231 PMID:1551676 PMID:1618489 PMID:1781350 PMID:1840549 PMID:1937471 PMID:2071157 PMID:2246854 PMID:2323782 PMID:2347587 PMID:2358296 PMID:2516172 PMID:2738157 PMID:2896620 PMID:2928313 PMID:3198771 PMID:3358423 PMID:3384338 PMID:6087154 PMID:6204922 PMID:6309910 PMID:6706936 PMID:7987318 PMID:8111415 PMID:8125482 PMID:9288634 PMID:9536098 PMID:9799086 PMID:10518289 PMID:10737990 PMID:10767182 PMID:11018746 PMID:11068166 PMID:11891689 PMID:15386453 PMID:15505382 PMID:15571220 PMID:16199547 PMID:16549399 PMID:17027311 PMID:17454734 PMID:17483691 PMID:17576681 PMID:18600506 PMID:18779430 PMID:19016344 PMID:20176575 PMID:20638392 PMID:20981450 PMID:22132984 PMID:22157001 PMID:22999896 PMID:23597535 PMID:23975452 PMID:25136576 PMID:25481104 PMID:25741868 PMID:27288985 PMID:28045594 PMID:28492532 PMID:29185864 More...
NCBI chr X:110,321,144...110,357,902
Ensembl chr X:110,321,204...110,357,894
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MIR19B-2
microRNA mir-19b-2
ISO
ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
ClinVar
PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 PMID:23975452 PMID:28492532 More...
NCBI chr X:110,113,855...110,113,934
Ensembl chr X:110,113,855...110,113,934
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PHF6
PHD finger protein 6
ISO
ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
ClinVar
PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 PMID:23975452 PMID:28492532 More...
NCBI chr X:110,249,010...110,311,503
Ensembl chr X:110,249,010...110,303,017
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SARS1
seryl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:110,857,067...110,874,712
Ensembl chr 4:110,857,089...110,874,815
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SARS2
seryl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME | ClinVar Annotator: match by term: Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:21255763 PMID:24034276 PMID:25741868 PMID:27279129 PMID:28492532 PMID:31607746 PMID:33751860 More...
NCBI chr 6:47,717,363...47,728,394
Ensembl chr 6:47,716,679...47,728,310
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