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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Asz1
ankyrin repeat, SAM and basic leucine zipper domain containing 1
ISO
ClinVar Annotator: match by term: Renal cell carcinoma 1
ClinVar
PMID:28492532
NCBI chr 4:46,400,485...46,456,085
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Atm
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: Renal cell carcinoma 1
ClinVar
PMID:10571946
NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:62,727,291...62,828,629
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C8h11orf65
similar to human chromosome 11 open reading frame 65
ISO
ClinVar Annotator: match by term: Renal cell carcinoma 1
ClinVar
PMID:10571946
NCBI chr 8:62,692,123...62,720,951
Ensembl chr 8:62,692,568...62,720,946
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Capza2
capping actin protein of muscle Z-line subunit alpha 2
ISO
ClinVar Annotator: match by term: Renal cell carcinoma 1
ClinVar
PMID:28492532
NCBI chr 4:45,978,142...46,014,032
Ensembl chr 4:46,895,701...46,979,938
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Cftr
CF transmembrane conductance regulator
ISO
ClinVar Annotator: match by term: Renal cell carcinoma 1
ClinVar
PMID:28492532
NCBI chr 4:47,422,084...47,694,646
Ensembl chr 4:47,526,735...47,694,643
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Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: Renal cell carcinoma 1
ClinVar
PMID:26822237
NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:129,517,545...129,544,662
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Renal cell carcinoma 1
ClinVar
PMID:9140397 PMID:9326629 PMID:9536098 PMID:9563489 PMID:9731534 PMID:9826708 PMID:10327054 PMID:10417759 PMID:10433944 PMID:10498872 PMID:11042681 PMID:11354004 PMID:11927612 PMID:12920089 PMID:14559814 PMID:15371818 PMID:15592501 PMID:15735036 PMID:16189274 PMID:16434318 PMID:17088437 PMID:17576681 PMID:18564920 PMID:19318576 PMID:19459657 PMID:19723643 PMID:20126411 PMID:20139696 PMID:20670955 PMID:20949619 PMID:21270786 PMID:21774103 PMID:21904579 PMID:21970370 PMID:22703879 PMID:22717761 PMID:23213094 PMID:23806086 PMID:24033266 PMID:24061647 PMID:24088041 PMID:24121490 PMID:24339735 PMID:24658158 PMID:24728327 PMID:25605252 PMID:25637381 PMID:25640679 PMID:25736269 PMID:25741868 PMID:25859546 PMID:26173098 PMID:26467025 PMID:26718692 PMID:26887047 PMID:27153395 PMID:27666373 PMID:27696107 PMID:27981572 PMID:28259294 PMID:28294470 PMID:28476232 PMID:28492532 PMID:28603720 PMID:28619094 PMID:28873162 PMID:29084058 PMID:29202410 PMID:29341112 PMID:29360161 PMID:29641532 PMID:29674709 PMID:29684080 PMID:30093976 PMID:30530636 PMID:31169336 PMID:31752449 PMID:32214092 PMID:32770124 PMID:32934698 PMID:33255238 PMID:34389035 PMID:34882875 PMID:35264596 PMID:37086329 PMID:37529773 More...
NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:46,756,506...46,870,821
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Msh2
mutS homolog 2
ISO
ClinVar Annotator: match by term: Renal cell carcinoma 1
ClinVar
PMID:18325052 PMID:21926548 PMID:24506336 PMID:24763289 PMID:25637381 PMID:25741868 PMID:26467025 PMID:26878173 PMID:26951660 PMID:27363726 PMID:28195393 PMID:28202063 PMID:28492532 PMID:28640387 PMID:28828701 PMID:29887214 PMID:30306255 PMID:30998989 PMID:31297992 PMID:31391288 PMID:32658311 PMID:32719484 PMID:33357406 PMID:33471991 PMID:33630411 PMID:34371384 PMID:34426522 PMID:35245693 PMID:35264596 PMID:35534704 PMID:36845387 More...
NCBI chr 6:12,567,368...12,626,534
Ensembl chr 6:12,567,368...12,626,503
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Mtor
mechanistic target of rapamycin kinase
ISO
ClinVar Annotator: match by term: Renal cell carcinoma 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:164,167,928...164,277,435
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Prcc
proline rich mitotic checkpoint control factor
ISO
ClinVar Annotator: match by term: Renal cell carcinoma 1
ClinVar
PMID:25741868
NCBI chr 2:175,624,134...175,649,664
Ensembl chr 2:175,624,134...175,649,664
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Sdhb
succinate dehydrogenase complex iron sulfur subunit B
ISO
ClinVar Annotator: match by term: Renal cell carcinoma 1
ClinVar
PMID:18728283 PMID:19576851 PMID:22835832 PMID:24055113 PMID:24092654 PMID:25637381 PMID:25741868 PMID:26332594 PMID:26467025 PMID:28374168 PMID:28492532 PMID:30050099 PMID:34906457 More...
NCBI chr 5:158,547,775...158,568,589
Ensembl chr 5:158,547,689...158,569,667
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St7
suppression of tumorigenicity 7
ISO
ClinVar Annotator: match by term: Renal cell carcinoma 1
ClinVar
PMID:28492532
NCBI chr 4:46,041,655...46,289,745
Ensembl chr 4:47,008,095...47,255,637
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Vhl
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Renal cell carcinoma 1
ClinVar
PMID:7563486 PMID:7784063 PMID:7977367 PMID:7987306 PMID:8493574 PMID:8707293 PMID:8772572 PMID:10567493 PMID:11309459 PMID:11331612 PMID:16452184 PMID:17661816 PMID:18567581 PMID:20660572 PMID:22799452 PMID:23772956 PMID:28492532 PMID:33720516 PMID:35008334 More...
NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:148,328,079...148,334,991
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Wnt2
Wnt family member 2
ISO
ClinVar Annotator: match by term: Renal cell carcinoma 1
ClinVar
PMID:28492532
NCBI chr 4:47,294,300...47,340,284
Ensembl chr 4:47,294,300...47,421,976
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