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G |
Abcg2 |
ATP binding cassette subfamily G member 2 (JR blood group) |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD MouseDO |
PMID:21821808 |
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NCBI chrNW_004955474:12,365,903...12,408,715
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G |
Aldh16a1 |
aldehyde dehydrogenase 16 family member A1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23348497 |
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NCBI chrNW_004955559:1,376,862...1,390,861
Ensembl chrNW_004955559:1,376,977...1,390,841
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Apln |
apelin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:30710622 |
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NCBI chrNW_004955473:5,346,822...5,356,359
Ensembl chrNW_004955473:5,346,747...5,356,359
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G |
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 chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888
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G |
Havcr1 |
hepatitis A virus cellular receptor 1 |
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ISO |
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RGD |
PMID:23673972 |
RGD:7244371 |
NCBI chrNW_004955408:11,047,679...11,070,492
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G |
Hprt1 |
hypoxanthine phosphoribosyltransferase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23348497 |
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NCBI chrNW_004955473:462,940...510,006
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G |
Ins |
insulin |
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ISO |
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RGD |
PMID:19033255 |
RGD:6902897 |
NCBI chrNW_004955422:13,909,408...13,910,419
Ensembl chrNW_004955422:13,909,407...13,910,419
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G |
Jak2 |
Janus kinase 2 |
treatment |
ISO |
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RGD |
PMID:23442673 |
RGD:10411892 |
NCBI chrNW_004955434:9,227,897...9,341,208
Ensembl chrNW_004955434:9,227,595...9,341,208
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G |
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 chrNW_004955439:20,567,241...20,608,281
Ensembl chrNW_004955439:20,567,212...20,609,105
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G |
Slc2a9 |
solute carrier family 2 member 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD MouseDO |
PMID:18989453 |
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NCBI chrNW_004955514:5,479,585...5,625,328
Ensembl chrNW_004955514:5,479,585...5,625,223
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G |
Slc5a8 |
solute carrier family 5 member 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20589576 |
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NCBI chrNW_004955405:36,717,579...36,769,074
Ensembl chrNW_004955405:36,725,892...36,769,074
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Stat3 |
signal transducer and activator of transcription 3 |
treatment |
ISO |
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RGD |
PMID:23442673 |
RGD:10411892 |
NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687
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G |
Tgfb1 |
transforming growth factor beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36850003 |
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NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
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G |
Umod |
uromodulin |
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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...
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NCBI chrNW_004955442:3,986,936...4,001,155
Ensembl chrNW_004955442:3,985,308...3,999,598
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G |
Hnf1b |
HNF1 homeobox B |
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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...
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NCBI chrNW_004955451:320,283...371,420
Ensembl chrNW_004955451:320,283...371,420
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G |
Muc1 |
mucin 1, cell surface associated |
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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 |
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NCBI chrNW_004955545:1,657,728...1,662,112
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G |
Sec63 |
SEC63 homolog, protein translocation regulator |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant medullary cystic kidney disease with or without hyperuricemia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955411:33,063,056...33,126,325
Ensembl chrNW_004955411:33,063,989...33,126,105
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G |
Umod |
uromodulin |
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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...
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NCBI chrNW_004955442:3,986,936...4,001,155
Ensembl chrNW_004955442:3,985,308...3,999,598
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G |
Ren |
renin |
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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...
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NCBI chrNW_004955406:40,016,624...40,026,286
Ensembl chrNW_004955406:40,016,630...40,026,286
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G |
Abcg5 |
ATP binding cassette subfamily G member 5 |
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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...
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NCBI chrNW_004955441:10,964,588...10,987,771
Ensembl chrNW_004955441:10,964,858...10,986,967
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G |
Ruvbl1 |
RuvB like AAA ATPase 1 |
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ISO |
ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955429:15,598,465...15,632,290
Ensembl chrNW_004955429:15,598,465...15,633,713
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G |
Sec61a1 |
SEC61 translocon subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 |
OMIM ClinVar |
PMID:25741868 PMID:27392076 PMID:28492532 PMID:28782633 PMID:33185949 |
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NCBI chrNW_004955429:15,637,461...15,652,556
Ensembl chrNW_004955429:15,637,325...15,652,556
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G |
Umod |
uromodulin |
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ISO |
OMIM:162000 | OMIM:613092 | OMIM:614227 |
MouseDO |
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NCBI chrNW_004955442:3,986,936...4,001,155
Ensembl chrNW_004955442:3,985,308...3,999,598
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G |
Hnf1b |
HNF1 homeobox B |
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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...
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NCBI chrNW_004955451:320,283...371,420
Ensembl chrNW_004955451:320,283...371,420
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G |
Aldh16a1 |
aldehyde dehydrogenase 16 family member A1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23348497 |
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NCBI chrNW_004955559:1,376,862...1,390,861
Ensembl chrNW_004955559:1,376,977...1,390,841
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G |
Ccdc160 |
coiled-coil domain containing 160 |
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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...
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NCBI chrNW_004955473:725,822...742,698
Ensembl chrNW_004955473:725,193...736,944
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G |
Gpc3 |
glypican 3 |
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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...
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NCBI chrNW_004955473:969,627...1,431,706
Ensembl chrNW_004955473:969,800...1,431,483
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G |
Hprt1 |
hypoxanthine phosphoribosyltransferase 1 |
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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...
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NCBI chrNW_004955473:462,940...510,006
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G |
Phf6 |
PHD finger protein 6 |
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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...
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NCBI chrNW_004955473:527,005...586,589
Ensembl chrNW_004955473:527,005...586,627
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G |
Sars1 |
seryl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955435:12,642,485...12,659,833
Ensembl chrNW_004955435:12,641,776...12,660,682
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G |
Sars2 |
seryl-tRNA synthetase 2, mitochondrial |
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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...
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NCBI chrNW_004955468:603,778...613,475
Ensembl chrNW_004955468:603,778...613,475
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