Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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.

Term:urinary system disease
go back to main search page
Accession:DOID:18 term browser browse the term
Definition:A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra. (DO)
Synonyms:exact_synonym: Urinary Tract Diseases;   Urologic Disease;   Urological Disease;   Urological Diseases;   non-neoplastic urinary tract disease;   urinary tract disease;   urologic diseases
 primary_id: MESH:D014570
 alt_id: DOID:9002766;   RDO:0002081;   RDO:9003320
 xref: NCI:C27599
For additional species annotation, visit the Alliance of Genome Resources.


GViewer not supported for chinchilla.
show annotations for term's descendants           Sort by:
 
46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: 46,XX gonadal dysgenesis ClinVar PMID:29566152 NCBI chrNW_004955508:6,232,514...6,246,593
Ensembl chrNW_004955508:6,232,514...6,246,633
JBrowse link
G Wnt4 Wnt family member 4 ISO OMIM NCBI chrNW_004955452:2,319,446...2,344,740
Ensembl chrNW_004955452:2,319,446...2,344,989
JBrowse link
acute kidney failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb2 adrenoceptor beta 2 treatment ISO associated with endotoxemia; protein:increased expression:kidney
associated with Endotoxemia;
associated with Bacteremia;
RGD PMID:14747378, PMID:19020966, PMID:19887504 RGD:7175276, RGD:7175281, RGD:7175283 NCBI chrNW_004955415:5,515,157...5,517,198
Ensembl chrNW_004955415:5,515,697...5,516,980
JBrowse link
G Ager advanced glycosylation end-product specific receptor ISO RGD PMID:21811803 RGD:7243868 NCBI chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479
JBrowse link
G Ahsg alpha 2-HS glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chrNW_004955420:21,071,111...21,078,397
Ensembl chrNW_004955420:21,069,681...21,078,298
JBrowse link
G Alad aminolevulinate dehydratase ISO protein:decreased activity:kidney (rat) RGD PMID:19484701 RGD:4144146 NCBI chrNW_004955419:14,093,010...14,104,376
Ensembl chrNW_004955419:14,093,010...14,104,545
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:2048579, PMID:21259293, PMID:24361871, PMID:28885000 NCBI chrNW_004955447:9,327...21,212 JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO RGD PMID:19194548 RGD:2317536 NCBI chrNW_004955546:2,495,226...2,550,909
Ensembl chrNW_004955546:2,494,819...2,550,909
JBrowse link
G Ambp alpha-1-microglobulin/bikunin precursor ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD
PMID:8963945, PMID:28885000 RGD:6904218 NCBI chrNW_004955419:13,478,904...13,492,329
Ensembl chrNW_004955419:13,478,552...13,492,327
JBrowse link
G Amn amnion associated transmembrane protein ISO CTD Direct Evidence: therapeutic CTD PMID:20514524 NCBI chrNW_004955538:2,017,476...2,021,890 JBrowse link
G Anxa1 annexin A1 treatment ISO RGD PMID:22101490 RGD:7421583 NCBI chrNW_004955512:5,686,508...5,703,645 JBrowse link
G Ar androgen receptor ISO RGD PMID:24503548 RGD:11570523 NCBI chrNW_004955475:7,013,960...7,192,473
Ensembl chrNW_004955475:7,013,960...7,186,069
JBrowse link
G Arg1 arginase 1 ISO mRNA:decreased expression:renal tubule (rat) RGD PMID:12371970 RGD:631989 NCBI chrNW_004955436:12,235,767...12,247,817
Ensembl chrNW_004955436:12,235,767...12,251,972
JBrowse link
G Arg2 arginase 2 ISO mRNA:decreased expression:renal tubule (rat) RGD PMID:12371970 RGD:631989 NCBI chrNW_004955466:2,549,557...2,577,060
Ensembl chrNW_004955466:2,549,557...2,577,060
JBrowse link
G Atp5f1b ATP synthase F1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25666834 NCBI chrNW_004955458:4,188,167...4,195,575
Ensembl chrNW_004955458:4,186,461...4,195,494
JBrowse link
G Avpr1a arginine vasopressin receptor 1A ISO RGD PMID:17347933 RGD:2300348 NCBI chrNW_004955458:10,245,325...10,253,209
Ensembl chrNW_004955458:10,245,111...10,253,209
JBrowse link
G B2m beta-2-microglobulin ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:2689182, PMID:19536607, PMID:22005293, PMID:28885000 RGD:6482685 NCBI chrNW_004955416:11,205,503...11,211,325
Ensembl chrNW_004955416:11,204,849...11,215,568
JBrowse link
G Bad BCL2 associated agonist of cell death treatment ISO RGD PMID:20037173 RGD:10053672 NCBI chrNW_004955422:20,795,585...20,809,039
Ensembl chrNW_004955422:20,795,676...20,809,245
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:20037173, PMID:20623750 RGD:10053672 NCBI chrNW_004955559:1,695,960...1,700,246
Ensembl chrNW_004955559:1,695,960...1,700,244
JBrowse link
G Bcl2 BCL2 apoptosis regulator ISO protein:increased expression:kidney RGD PMID:20037173 RGD:10053672 NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485
JBrowse link
G Bcl2l1 BCL2 like 1 ISO protein:increased expression:kidney RGD PMID:20037173 RGD:10053672 NCBI chrNW_004955422:29,254,440...29,307,104
Ensembl chrNW_004955422:29,254,216...29,308,174
JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24975837 NCBI chrNW_004955438:16,514,300...16,537,160
Ensembl chrNW_004955438:16,511,759...16,537,172
JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697
JBrowse link
G Capn1 calpain 1 treatment ISO associated with Rhabdomyolysis; RGD PMID:24158126 RGD:13792553 NCBI chrNW_004955422:20,006,448...20,026,984
Ensembl chrNW_004955422:20,004,426...20,025,708
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased secretion:serum (mouse) RGD PMID:19508392 RGD:4889990 NCBI chrNW_004955481:10,293,758...10,301,118
Ensembl chrNW_004955481:10,293,399...10,301,143
JBrowse link
G Cct7 chaperonin containing TCP1 subunit 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31825490 NCBI chrNW_004955424:12,379,222...12,402,161 JBrowse link
G Cd44 CD44 molecule (Indian blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chrNW_004955422:11,106,061...11,189,951 JBrowse link
G Cdkn1b cyclin dependent kinase inhibitor 1B ISO protein:decreased expression:kidney RGD PMID:16557226 RGD:2293624 NCBI chrNW_004955413:9,615,542...9,620,542
Ensembl chrNW_004955413:9,615,542...9,620,542
JBrowse link
G Clu clusterin ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:urine
CTD
RGD
PMID:20118187, PMID:20623750, PMID:22005293, PMID:22581811, PMID:23052191, PMID:24361871, PMID:28885000 RGD:7245501 NCBI chrNW_004955403:50,160,598...50,175,876
Ensembl chrNW_004955403:50,160,598...50,175,876
JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chrNW_004955448:470,063...522,909
Ensembl chrNW_004955448:473,179...523,100
JBrowse link
G Csf1 colony stimulating factor 1 ISO RGD PMID:23143303 RGD:7257565 NCBI chrNW_004955435:13,404,236...13,423,059
Ensembl chrNW_004955435:13,404,508...13,424,247
JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO RGD PMID:23143303 RGD:7257565 NCBI chrNW_004955415:4,434,486...4,462,505
Ensembl chrNW_004955415:4,434,453...4,461,751
JBrowse link
G Cst3 cystatin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22005293, PMID:28885000 NCBI chrNW_004955415:30,507,972...30,512,109 JBrowse link
G Ddit3 DNA damage inducible transcript 3 ISO Protein:increased expression:renal tubule epithelium RGD PMID:15476864 RGD:1599736 NCBI chrNW_004955458:5,232,979...5,238,513
Ensembl chrNW_004955458:5,232,979...5,238,513
JBrowse link
G Ece1 endothelin converting enzyme 1 ISO RGD PMID:10073607, PMID:11043448 RGD:7244180, RGD:7244185 NCBI chrNW_004955452:1,653,783...1,704,619
Ensembl chrNW_004955452:1,651,316...1,751,489
JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:kidney (mouse)
CTD
RGD
PMID:9788586, PMID:19967049 RGD:4144852 NCBI chrNW_004955465:2,287,906...2,314,945
Ensembl chrNW_004955465:2,287,798...2,314,753
JBrowse link
G Egf epidermal growth factor ISO RGD PMID:20482449 RGD:6906908 NCBI chrNW_004955496:325,954...401,430
Ensembl chrNW_004955496:328,075...401,569
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: therapeutic
mRNA:increased expression:kidney
CTD
RGD
PMID:11340354, PMID:14638913 RGD:10395241 NCBI chrNW_004955456:321,222...456,431 JBrowse link
G Egln1 egl-9 family hypoxia inducible factor 1 ISO mRNA, protein:decreased expression:kidney RGD PMID:19349364 RGD:11252083 NCBI chrNW_004955492:7,407,800...7,454,851 JBrowse link
G Egln3 egl-9 family hypoxia inducible factor 3 ISO mRNA, protein:decreased expression:kidney RGD PMID:19349364 RGD:11252083 NCBI chrNW_004955409:26,939,933...26,967,156
Ensembl chrNW_004955409:26,939,933...26,967,156
JBrowse link
G Epas1 endothelial PAS domain protein 1 treatment ISO RGD PMID:16762988 RGD:10395386 NCBI chrNW_004955441:13,244,626...13,328,220
Ensembl chrNW_004955441:13,244,626...13,328,369
JBrowse link
G Ephx2 epoxide hydrolase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:26165641 NCBI chrNW_004955403:49,999,563...50,038,800
Ensembl chrNW_004955403:49,999,563...50,041,572
JBrowse link
G Epo erythropoietin treatment ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:21847101, PMID:22209169, PMID:22235348, PMID:24561306 RGD:10400913, RGD:11041660 NCBI chrNW_004955573:203,875...206,078
Ensembl chrNW_004955573:203,441...206,355
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:renal tubule (rat) RGD PMID:21374789 RGD:8663469 NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
JBrowse link
G Fga fibrinogen alpha chain ISO mRNA:increased expression:kidney (rat) RGD PMID:15805072 RGD:9685024 NCBI chrNW_004955471:8,806,964...8,814,671
Ensembl chrNW_004955471:8,806,650...8,816,791
JBrowse link
G Fis1 fission, mitochondrial 1 ISO protein:decreased expression:kidney (rat) RGD PMID:26480480 RGD:12910862 NCBI chrNW_004955456:16,057,158...16,060,623
Ensembl chrNW_004955456:16,038,221...16,060,623
JBrowse link
G Fn1 fibronectin 1 ISO protein:increased expression:kidney RGD PMID:11768240, PMID:12884040 RGD:7205684, RGD:729934 NCBI chrNW_004955457:629,599...694,948
Ensembl chrNW_004955457:629,518...696,975
JBrowse link
G Fstl1 follistatin like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20861081 NCBI chrNW_004955427:19,952,823...20,003,832
Ensembl chrNW_004955427:19,952,853...20,004,241
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:602954, PMID:734759, PMID:4794122 NCBI chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083
JBrowse link
G Gas6 growth arrest specific 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19564549 NCBI chrNW_004955404:276,397...303,864
Ensembl chrNW_004955404:275,946...304,809
JBrowse link
G Gatm glycine amidinotransferase ISO protein:decreased activity:kidney (rat) RGD PMID:2752493 RGD:1599823 NCBI chrNW_004955409:8,068,524...8,084,603
Ensembl chrNW_004955409:8,068,476...8,084,603
JBrowse link
G Gc GC vitamin D binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chrNW_004955447:1,361,698...1,400,633
Ensembl chrNW_004955447:1,361,566...1,402,491
JBrowse link
G Gfer growth factor, augmenter of liver regeneration treatment ISO protein:increased expression:cortex of kidney,renal medulla:
CTD Direct Evidence: therapeutic
RGD
CTD
PMID:20030531 RGD:9685736 NCBI chrNW_004955442:15,280,753...15,283,405
Ensembl chrNW_004955442:15,281,419...15,283,266
JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO RGD PMID:19625378 RGD:7242430 NCBI chrNW_004955561:1,676,475...1,682,205
Ensembl chrNW_004955561:1,676,576...1,681,812
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO protein:decreased activity:kidney (rat) RGD PMID:23924727 RGD:13506245 NCBI chrNW_004955433:16,121,795...16,145,129
Ensembl chrNW_004955433:16,122,824...16,145,113
JBrowse link
G Gpnmb glycoprotein nmb ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chrNW_004955410:25,554,279...25,583,368
Ensembl chrNW_004955410:25,553,973...25,582,500
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:22785175 NCBI chrNW_004955427:19,489,972...19,671,137
Ensembl chrNW_004955427:19,495,422...19,671,137
JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:decreased activity:kidney:
glycerol-induced
RGD PMID:1870354, PMID:22286819 RGD:7257559, RGD:7257585 NCBI chrNW_004955463:7,130,459...7,153,631
Ensembl chrNW_004955463:7,131,364...7,153,583
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:20623750, PMID:20798258 RGD:6903954 NCBI chrNW_004955422:17,914,228...17,916,918
Ensembl chrNW_004955422:17,914,305...17,917,428
JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO protein:increased expression:urine
associated with Pyelonephritis;protein:increased expression:urine:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:20118187, PMID:21259293, PMID:21835770, PMID:22005293, PMID:23019274, PMID:23052191, PMID:23319831, PMID:23683031, PMID:23845967, PMID:24189134, PMID:24361871, PMID:24958931, PMID:28885000 RGD:7244370, RGD:7245472, RGD:7245495 NCBI chrNW_004955408:11,047,679...11,070,492 JBrowse link
G Hbegf heparin binding EGF like growth factor ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:kidney
CTD
RGD
PMID:7635938, PMID:11340354 RGD:10395241 NCBI chrNW_004955418:259,860...321,340
Ensembl chrNW_004955418:309,096...321,387
JBrowse link
G Hdac2 histone deacetylase 2 treatment ISO associated with sepsis; RGD PMID:22933299 RGD:9590257 NCBI chrNW_004955526:2,739,099...2,759,640
Ensembl chrNW_004955526:2,728,377...2,759,707
JBrowse link
G Hdac3 histone deacetylase 3 ISO RGD PMID:21416250 RGD:10047111 NCBI chrNW_004955415:12,138,520...12,154,234
Ensembl chrNW_004955415:12,138,870...12,154,234
JBrowse link
G Hdac5 histone deacetylase 5 treatment ISO associated with sepsis; RGD PMID:21416250, PMID:22933299 RGD:10047111, RGD:9590257 NCBI chrNW_004955451:17,223,217...17,246,451
Ensembl chrNW_004955451:17,223,287...17,244,051
JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO protein:increased expression:kidney tubule (rat)
mRNA:increased expression:kidney collecting duct (rat)
RGD PMID:24325066, PMID:24397211 RGD:9685383, RGD:9685389 NCBI chrNW_004955420:14,565,921...14,568,447
Ensembl chrNW_004955420:14,564,283...14,568,447
JBrowse link
G Hexb hexosaminidase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:22005293 NCBI chrNW_004955425:25,942,341...25,961,312
Ensembl chrNW_004955425:25,942,278...25,961,312
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha treatment ISO mRNA:increased expression:renal cortex (rat) RGD PMID:15673301, PMID:16762988, PMID:18593636 RGD:10395376, RGD:10395386, RGD:9068894 NCBI chrNW_004955466:8,000,311...8,022,497
Ensembl chrNW_004955466:8,000,044...8,022,497
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO associated with Sepsis RGD PMID:16557230 RGD:5508471 NCBI chrNW_004955425:25,362,165...25,380,611
Ensembl chrNW_004955425:25,359,884...25,380,745
JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO CTD Direct Evidence: therapeutic
associated with Sepsis
CTD
RGD
PMID:21048024, PMID:23807243 RGD:10755583 NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979
JBrowse link
G Hpx hemopexin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chrNW_004955414:22,158,654...22,169,133
Ensembl chrNW_004955414:22,156,819...22,169,631
JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO protein:increased expression:kidney, lysosome (rat) RGD PMID:14966137 RGD:7242786 NCBI chrNW_004955412:23,863,513...23,867,984
Ensembl chrNW_004955412:23,862,590...23,867,984
JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment ISO RGD PMID:22659586 RGD:7175102 NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755
JBrowse link
G Igf1 insulin like growth factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:7540432 NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152
JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO mRNA: decreased expression: kidney: both cortex and medulla RGD PMID:9767523 RGD:7242908 NCBI chrNW_004955416:26,101,090...26,382,660
Ensembl chrNW_004955416:26,102,628...26,382,666
JBrowse link
G Igfbp1 insulin like growth factor binding protein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:7540432 NCBI chrNW_004955456:6,810,461...6,814,944
Ensembl chrNW_004955456:6,810,056...6,815,685
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18460982 NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
JBrowse link
G Il18 interleukin 18 ISO RGD PMID:11342578 RGD:6893450 NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:21716595 RGD:6907069 NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466
JBrowse link
G Il1b interleukin 1 beta ISO mRNA:increased expression:kidney, liver, spleen (mouse)
protein:increased expression:kidney (rat)
RGD PMID:21677145, PMID:22286667, PMID:22659586, PMID:22750969 RGD:7175094, RGD:7175102, RGD:7175258, RGD:7175314 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO associated with Sepsis
associated with Asphyxia; rat model treated with human protein
RGD PMID:14610321, PMID:16259926, PMID:16763508 RGD:6907360, RGD:6907369, RGD:6907375 NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471
JBrowse link
G Il20 interleukin 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18496552 NCBI chrNW_004955406:42,398,510...42,401,561
Ensembl chrNW_004955406:42,398,782...42,401,490
JBrowse link
G Il6 interleukin 6 ISO associated with Acute Lung Injury;protein:increased expression:plasma
CTD Direct Evidence: therapeutic
RGD
CTD
PMID:18074478, PMID:21570986 RGD:5128661 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Ins insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12243603 NCBI chrNW_004955422:13,909,408...13,910,419
Ensembl chrNW_004955422:13,909,407...13,910,419
JBrowse link
G Klk1 kallikrein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18227104 NCBI chrNW_004955559:457,030...461,086 JBrowse link
G Kng1 kininogen 1 ISO CTD Direct Evidence: therapeutic CTD PMID:513486, PMID:3015452 NCBI chrNW_004955420:20,989,197...21,016,084 JBrowse link
G Lgals3 galectin 3 ISO mRNA:increased expression:kidney RGD PMID:10980121 RGD:9685228 NCBI chrNW_004955409:8,448,120...8,452,437
Ensembl chrNW_004955409:8,447,774...8,452,438
JBrowse link
G LOC102010322 cytochrome P450 1A2 treatment ISO RGD PMID:18495746, PMID:23981375 RGD:7257727, RGD:7257735 NCBI chrNW_004955450:3,165,107...3,171,894
Ensembl chrNW_004955450:3,165,106...3,171,942
JBrowse link
G LOC102010850 cytochrome P450 1A1 treatment ISO RGD PMID:18495746, PMID:19890363 RGD:7257732, RGD:7257735 NCBI chrNW_004955450:3,183,958...3,189,488
Ensembl chrNW_004955450:3,183,750...3,189,488
JBrowse link
G LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial ISO RGD PMID:6223803 RGD:2307326 NCBI chrNW_004955458:5,472,404...5,477,001
Ensembl chrNW_004955458:5,472,404...5,477,001
JBrowse link
G LOC102021597 alpha-1-antiproteinase S-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chrNW_004955438:17,920,200...17,929,105 JBrowse link
G LOC102021956 alpha-2-macroglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chrNW_004955413:6,019,457...6,062,366
Ensembl chrNW_004955413:6,019,082...6,062,529
JBrowse link
G LOC102026028 cytochrome P450 2E1 treatment ISO RGD PMID:24412858, PMID:24717297 RGD:14700914, RGD:14700920 NCBI chrNW_004955507:6,293,162...6,303,255
Ensembl chrNW_004955507:6,289,576...6,304,193
JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29286200 NCBI chrNW_004955449:5,155,109...5,314,886
Ensembl chrNW_004955449:5,160,946...5,314,948
JBrowse link
G Mb myoglobin ISO protein: increased expression: serum RGD PMID:9822635, PMID:23497406 RGD:7244253, RGD:7244259 NCBI chrNW_004955405:43,215,404...43,221,606
Ensembl chrNW_004955405:43,215,007...43,222,052
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO protein:increased expression:renal parenchyma (rat) RGD PMID:17940345 RGD:2317469 NCBI chrNW_004955432:22,440,671...22,519,592
Ensembl chrNW_004955432:22,440,637...22,517,647
JBrowse link
G Mfn1 mitofusin 1 ISO protein:decreased expression:kidney (rat) RGD PMID:26480480 RGD:12910862 NCBI chrNW_004955420:8,541,547...8,596,494
Ensembl chrNW_004955420:8,541,936...8,594,437
JBrowse link
G Mpo myeloperoxidase ISO DNA:haplotye: :
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:19793022, PMID:20623750, PMID:22739978 RGD:6909168, RGD:6909185 NCBI chrNW_004955451:4,743,744...4,753,358
Ensembl chrNW_004955451:4,743,744...4,753,358
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17387702 NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:23022334 RGD:7245507 NCBI chrNW_004955486:2,487,642...2,599,694
Ensembl chrNW_004955486:2,487,642...2,599,694
JBrowse link
G Muc20 mucin 20, cell surface associated ISO RGD PMID:14565953 RGD:7364790 NCBI chrNW_004955420:12,212,666...12,234,213 JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor susceptibility ISO protein:decreased phosphorylation:kidney (mouse) RGD PMID:23228991 RGD:7207407 NCBI chrNW_004955461:2,714,022...2,718,872
Ensembl chrNW_004955461:2,714,022...2,718,982
JBrowse link
G Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 ISO RGD PMID:22160772 RGD:13801199 NCBI chrNW_004955485:9,607,781...9,613,123 JBrowse link
G Nes nestin ISO RGD PMID:24503548 RGD:11570523 NCBI chrNW_004955545:2,748,132...2,756,595
Ensembl chrNW_004955545:2,748,078...2,756,301
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2 like 2 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:24291173, PMID:24958931 RGD:10412697 NCBI chrNW_004955403:19,510,122...19,536,428
Ensembl chrNW_004955403:19,532,103...19,535,944
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29286200 NCBI chrNW_004955496:5,842,734...5,950,995
Ensembl chrNW_004955496:5,842,600...5,927,885
JBrowse link
G Nos1 nitric oxide synthase 1 ISO RGD PMID:14531809 RGD:13825139 NCBI chrNW_004955455:13,797,557...13,978,402
Ensembl chrNW_004955455:13,797,545...13,972,566
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9810145 NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism
in females;mRNA:increased expression:cortex of kidney (rat)
CTD
RGD
PMID:9788586, PMID:28947737 RGD:13450947 NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism|therapeutic
mRNA:increased expression:kidney
CTD
RGD
PMID:1825077, PMID:2948068, PMID:19298916, PMID:22209992 RGD:7247715 NCBI chrNW_004955486:2,061,196...2,062,805
Ensembl chrNW_004955486:2,060,735...2,063,003
JBrowse link
G Nppb natriuretic peptide B ISO associated with lung diseases;protein:increased expression:serum:
associated with Myocardial Infarction;protein:increased expression:serum:
associated with Pneumonia;protein:increased expression:serum:
mRNA:increased expression:kidney
RGD PMID:22209992, PMID:23192919, PMID:23415693, PMID:23837838 RGD:7247620, RGD:7247622, RGD:7247624, RGD:7247715 NCBI chrNW_004955486:2,054,775...2,056,130 JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:26723870, PMID:28230744 RGD:13440091 NCBI chrNW_004955484:7,012,373...7,028,182
Ensembl chrNW_004955484:7,012,506...7,027,604
JBrowse link
G Ocln occludin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19766176 NCBI chrNW_004955575:163,646...210,379 JBrowse link
G Orm1 orosomucoid 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chrNW_004955419:13,262,119...13,264,986 JBrowse link
G Parp1 poly(ADP-ribose) polymerase 1 ISO RGD PMID:21884784 RGD:5510015 NCBI chrNW_004955489:520,875...557,609
Ensembl chrNW_004955489:520,875...557,615
JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel ISO protein:altered localization RGD PMID:12089381 RGD:7175293 NCBI chrNW_004955474:1,831,221...1,868,170
Ensembl chrNW_004955474:1,833,701...1,868,817
JBrowse link
G Plat plasminogen activator, tissue type ISO protein:increased expression:plasma (human) RGD PMID:9767551 RGD:11541071 NCBI chrNW_004955536:730,962...754,333
Ensembl chrNW_004955536:730,981...756,394
JBrowse link
G Plg plasminogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chrNW_004955439:20,317,814...20,366,724
Ensembl chrNW_004955439:20,317,552...20,366,475
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:17216604 NCBI chrNW_004955469:7,217,233...7,220,401
Ensembl chrNW_004955469:7,217,363...7,220,386
JBrowse link
G Pparg peroxisome proliferator activated receptor gamma treatment ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD
PMID:17494862, PMID:20623750, PMID:24011919, PMID:24433871 RGD:8553020 NCBI chrNW_004955429:14,814,690...14,936,869
Ensembl chrNW_004955429:14,873,908...14,937,387
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO associated with Endotoxemia; mRNA:decreased expression:kidney (mouse) RGD PMID:21881206 RGD:7242026 NCBI chrNW_004955480:543,397...1,188,376
Ensembl chrNW_004955480:1,078,322...1,188,435
JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa treatment ISO RGD PMID:19092124 RGD:11250410 NCBI chrNW_004955459:3,097,229...3,105,566
Ensembl chrNW_004955459:3,094,120...3,104,135
JBrowse link
G Procr protein C receptor treatment ISO associated with Sepsis RGD PMID:23807243 RGD:10755583 NCBI chrNW_004955422:26,215,757...26,220,396
Ensembl chrNW_004955422:26,216,002...26,220,101
JBrowse link
G Ptafr platelet activating factor receptor treatment ISO associated with Endotoxemia RGD PMID:2538527 RGD:10043182 NCBI chrNW_004955452:7,309,854...7,345,579
Ensembl chrNW_004955452:7,311,901...7,312,929
JBrowse link
G Ptger4 prostaglandin E receptor 4 treatment ISO RGD PMID:16871242 RGD:10003092 NCBI chrNW_004955426:24,997,811...25,010,822
Ensembl chrNW_004955426:24,997,811...25,010,822
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:21893983 RGD:5508181 NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171
JBrowse link
G Rapgef3 Rap guanine nucleotide exchange factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21745194 NCBI chrNW_004955500:6,655,056...6,674,311
Ensembl chrNW_004955500:6,655,056...6,674,311
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO associated with Sepsis;protein:increased phosphorylation:kidney RGD PMID:19428114 RGD:8547990 NCBI chrNW_004955431:1,960,765...2,124,576
Ensembl chrNW_004955431:1,960,661...2,124,576
JBrowse link
G Scgb1a1 secretoglobin family 1A member 1 ISO associated with LPS induced endotoxemia RGD PMID:18824919 RGD:2313129 NCBI chrNW_004955599:688,414...690,644 JBrowse link
G Serpinc1 serpin family C member 1 ISO associated with heart failure; protein:decreased activity:plasma: RGD PMID:26108065 RGD:11354006 NCBI chrNW_004955406:14,024,183...14,036,206
Ensembl chrNW_004955406:14,024,313...14,035,948
JBrowse link
G Sirt1 sirtuin 1 severity ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:kidney (rat)
CTD
RGD
PMID:21416250 RGD:10047111 NCBI chrNW_004955425:20,280,725...20,307,663
Ensembl chrNW_004955425:20,279,963...20,307,663
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20623750 NCBI chrNW_004955453:14,980,562...14,995,118
Ensembl chrNW_004955453:14,980,562...14,995,608
JBrowse link
G Slc22a12 solute carrier family 22 member 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14655203 NCBI chrNW_004955422:20,555,458...20,561,818
Ensembl chrNW_004955422:20,556,098...20,596,012
JBrowse link
G Slc22a2 solute carrier family 22 member 2 treatment
susceptibility
ISO mRNA:decreased expression:kidney
DNA:SNP: :808G>T (rs316019) human
RGD PMID:18612803, PMID:19625999, PMID:22414646 RGD:7243179, RGD:7243880, RGD:7243884 NCBI chrNW_004955439:20,567,241...20,608,281
Ensembl chrNW_004955439:20,567,212...20,609,105
JBrowse link
G Slc34a1 solute carrier family 34 member 1 disease_progression ISO associated with Sepsis; protein:decreased expression:renal proximal tubule (mouse) RGD PMID:19729856 RGD:7242943 NCBI chrNW_004955408:29,626,775...29,640,811
Ensembl chrNW_004955408:29,626,775...29,640,875
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11274264, PMID:20623750, PMID:22863853 RGD:6903264 NCBI chrNW_004955474:1,914,477...1,922,025
Ensembl chrNW_004955474:1,913,829...1,922,016
JBrowse link
G Tff3 trefoil factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chrNW_004955407:39,398,534...39,401,085
Ensembl chrNW_004955407:39,398,074...39,401,248
JBrowse link
G Tgfa transforming growth factor alpha ISO mRNA:increased expression:kidney RGD PMID:11340354 RGD:10395241 NCBI chrNW_004955424:14,616,390...14,709,723
Ensembl chrNW_004955424:14,616,259...14,710,183
JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10469268 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
JBrowse link
G Thbd thrombomodulin treatment ISO RGD PMID:17804460, PMID:19176699 RGD:5684994, RGD:5685010 NCBI chrNW_004955415:30,222,830...30,226,406 JBrowse link
G Tlr2 toll like receptor 2 ISO CTD Direct Evidence: marker/mechanism
associated with Sepsis
CTD
RGD
PMID:22655058, PMID:29286200 RGD:7207898 NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
JBrowse link
G Tlr4 toll like receptor 4 treatment ISO CTD Direct Evidence: marker/mechanism
associated with Sepsis
CTD
RGD
PMID:16638912, PMID:22266601, PMID:22655058, PMID:29286200 RGD:6892690, RGD:7207898, RGD:7241084 NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
JBrowse link
G Tlr9 toll like receptor 9 ISO associated with Sepsis RGD PMID:23548820 RGD:7245966 NCBI chrNW_004955532:3,828,645...3,832,699 JBrowse link
G Tnf tumor necrosis factor susceptibility ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:16595132, PMID:18460982, PMID:20623750, PMID:21150875 RGD:7245548 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
JBrowse link
G Tnfrsf12a TNF receptor superfamily member 12A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chrNW_004955442:14,320,159...14,322,146
Ensembl chrNW_004955442:14,320,159...14,322,146
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A susceptibility ISO associated with Endotoxemia
associated with Acute Lung Injury
associated with Shock, Septic;protein:increased expression:serum
RGD PMID:12023385, PMID:12500222, PMID:18074478, PMID:21150875 RGD:5128661, RGD:7245534, RGD:7245535, RGD:7245548 NCBI chrNW_004955413:3,982,670...3,996,320
Ensembl chrNW_004955413:3,981,400...3,996,021
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO associated with Acute Lung Injury
associated with Shock, Septic;protein:increased expression:serum
RGD PMID:12500222, PMID:12865254, PMID:18074478 RGD:5128661, RGD:7245532, RGD:7245534 NCBI chrNW_004955486:1,790,531...1,817,986
Ensembl chrNW_004955486:1,792,115...1,818,362
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20603111 NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
JBrowse link
G Ttr transthyretin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chrNW_004955402:18,921,235...18,927,976
Ensembl chrNW_004955402:18,921,274...18,928,108
JBrowse link
G Uts2r urotensin 2 receptor ISO RGD PMID:15146030 RGD:2306847 NCBI chrNW_004955506:756,859...761,891 JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:20943766, PMID:22808199 NCBI chrNW_004955437:9,527,445...9,541,908 JBrowse link
G Wnt4 Wnt family member 4 ISO RGD PMID:12707392 RGD:727218 NCBI chrNW_004955452:2,319,446...2,344,740
Ensembl chrNW_004955452:2,319,446...2,344,989
JBrowse link
acute kidney tubular necrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak4 adenylate kinase 4 ISO protein:decreased expression:kidney (rat) RGD PMID:21152904 RGD:5134352 NCBI chrNW_004955423:25,395,086...25,402,324
Ensembl chrNW_004955423:25,395,836...25,427,474
JBrowse link
G Bmp7 bone morphogenetic protein 7 ISO associated with Kidney Reperfusion Injury;protein:increased expression:kidney RGD PMID:16284088 RGD:1601494 NCBI chrNW_004955445:2,154,057...2,235,594
Ensembl chrNW_004955445:2,153,170...2,235,795
JBrowse link
G Cct7 chaperonin containing TCP1 subunit 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31825490 NCBI chrNW_004955424:12,379,222...12,402,161 JBrowse link
G Ciita class II major histocompatibility complex transactivator ISO mRNA:increased expression:kidney RGD PMID:9422398 RGD:7242901 NCBI chrNW_004955442:7,600,903...7,647,619
Ensembl chrNW_004955442:7,603,893...7,647,624
JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:decreased activity:renal cortex: RGD PMID:12885594, PMID:17078987 RGD:7257555, RGD:7257573 NCBI chrNW_004955463:7,130,459...7,153,631
Ensembl chrNW_004955463:7,131,364...7,153,583
JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO protein:increased expression:kidney tubule, urine: RGD PMID:12081583 RGD:7245970 NCBI chrNW_004955408:11,047,679...11,070,492 JBrowse link
G Nog noggin ISO associated with Kidney Reperfusion Injury RGD PMID:16284088 RGD:1601494 NCBI chrNW_004955451:6,192,368...6,193,766
Ensembl chrNW_004955451:6,193,042...6,193,740
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:4358912, PMID:6254450 NCBI chrNW_004955469:7,217,233...7,220,401
Ensembl chrNW_004955469:7,217,363...7,220,386
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19834340 NCBI chrNW_004955413:30,306,563...30,366,245
Ensembl chrNW_004955413:30,307,219...30,359,500
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:19917352 NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
JBrowse link
G Tek TEK receptor tyrosine kinase ISO associated with Kidney Reperfusion Injury RGD PMID:16284088 RGD:1601494 NCBI chrNW_004955472:7,633,790...7,748,130
Ensembl chrNW_004955472:7,633,721...7,748,386
JBrowse link
Acute Tubulointerstitial Nephritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A1 ISO RGD PMID:22659101 RGD:7241207 NCBI chrNW_004955412:18,170,331...18,172,298
Ensembl chrNW_004955412:18,170,331...18,172,298
JBrowse link
G Tlr2 toll like receptor 2 ISO RGD PMID:22194975 RGD:7207900 NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
JBrowse link
G Tlr4 toll like receptor 4 ISO RGD PMID:22194975 RGD:7207900 NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
JBrowse link
adenine phosphoribosyltransferase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aprt adenine phosphoribosyltransferase ISO OMIM NCBI chrNW_004955541:2,687,938...2,690,906
Ensembl chrNW_004955541:2,687,938...2,690,906
JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004955541:2,691,103...2,711,137
Ensembl chrNW_004955541:2,691,103...2,710,696
JBrowse link
AIDS-Associated Nephropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtr2 angiotensin II receptor type 2 ISO RGD PMID:2 RGD:1303381 NCBI chrNW_004955534:3,653,112...3,654,248
Ensembl chrNW_004955534:3,653,157...3,654,248
JBrowse link
G Egf epidermal growth factor ISO RGD PMID:19357719 RGD:6906909 NCBI chrNW_004955496:325,954...401,430
Ensembl chrNW_004955496:328,075...401,569
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:23678040 RGD:7245474 NCBI chrNW_004955486:2,487,642...2,599,694
Ensembl chrNW_004955486:2,487,642...2,599,694
JBrowse link
G Myh9 myosin heavy chain 9 ISO protein:decreased expression:glomerulus RGD PMID:22313957 RGD:6903274 NCBI chrNW_004955413:22,881,759...22,972,182
Ensembl chrNW_004955413:22,881,045...22,972,450
JBrowse link
G Notch4 notch receptor 4 ISO protein: increased expression: kidney RGD PMID:20706108 RGD:6480788 NCBI chrNW_004955437:658,076...679,338 JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin treatment ISO RGD PMID:17229913, PMID:19188342 RGD:38596324, RGD:38599164 NCBI chrNW_004955468:2,715,728...2,734,174
Ensembl chrNW_004955468:2,714,419...2,734,830
JBrowse link
Albuminuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adm adrenomedullin ISO associated with Hypertension RGD PMID:19424162 RGD:2313311 NCBI chrNW_004955414:25,951,473...25,953,593
Ensembl chrNW_004955414:25,951,349...25,953,645
JBrowse link
G Ager advanced glycosylation end-product specific receptor treatment ISO associated with Diabetes Mellitus, Experimental
associated with Diabetes Mellitus, Type 2; protein:increased expression:serum (human)
associated with Diabetic Nephropathies
RGD PMID:20627935, PMID:21607631, PMID:21796806 RGD:7243944, RGD:7244135, RGD:7244184 NCBI chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479
JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:12414515, PMID:18679781, PMID:21896938 NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357
JBrowse link
G Alb albumin ISO associated with hypertension
associated with Diabetes Mellitus, Insulin-Dependent
RGD PMID:15102963, PMID:19414946 RGD:1601157, RGD:2306884 NCBI chrNW_004955447:9,327...21,212 JBrowse link
G B2m beta-2-microglobulin ISO associated with HIV infections;protein:increased expression:urine RGD PMID:18469311 RGD:6482713 NCBI chrNW_004955416:11,205,503...11,211,325
Ensembl chrNW_004955416:11,204,849...11,215,568
JBrowse link
G Casr calcium sensing receptor ISO associated with Uremia RGD PMID:19188910 RGD:7205661 NCBI chrNW_004955427:21,486,608...21,574,017
Ensembl chrNW_004955427:21,486,427...21,575,210
JBrowse link
G Cd38 CD38 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21992601 NCBI chrNW_004955480:8,177,178...8,218,483
Ensembl chrNW_004955480:8,178,473...8,217,643
JBrowse link
G Ciita class II major histocompatibility complex transactivator ISO DNA:polymorphism:promoter:-168A>G, in non-diabetic subjects RGD PMID:17183695 RGD:5491201 NCBI chrNW_004955442:7,600,903...7,647,619
Ensembl chrNW_004955442:7,603,893...7,647,624
JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21752484 NCBI chrNW_004955448:470,063...522,909
Ensembl chrNW_004955448:473,179...523,100
JBrowse link
G Csf1 colony stimulating factor 1 treatment ISO associated with Hypercholesterolemia and Diabetes Mellitus, Experimental RGD PMID:8573750 RGD:7257591 NCBI chrNW_004955435:13,404,236...13,423,059
Ensembl chrNW_004955435:13,404,508...13,424,247
JBrowse link
G Cst3 cystatin C ISO associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human) RGD PMID:19596469 RGD:2314309 NCBI chrNW_004955415:30,507,972...30,512,109 JBrowse link
G Ctsb cathepsin B ISO associated with Hypertension RGD PMID:19023196 RGD:2315726 NCBI chrNW_004955403:53,086,236...53,100,217
Ensembl chrNW_004955403:53,085,574...53,093,809
JBrowse link
G Drd1 dopamine receptor D1 ISO DNA:polymorphism:5' utr:g.-94G>A rs5326 (human) RGD PMID:17353515 RGD:7248452 NCBI chrNW_004955408:28,003,229...28,006,595
Ensembl chrNW_004955408:28,003,229...28,006,595
JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:renal papilla (rat) RGD PMID:20666571 RGD:4144838 NCBI chrNW_004955465:2,287,906...2,314,945
Ensembl chrNW_004955465:2,287,798...2,314,753
JBrowse link
G Epo erythropoietin ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:urine,serum RGD PMID:16921186 RGD:2313841 NCBI chrNW_004955573:203,875...206,078
Ensembl chrNW_004955573:203,441...206,355
JBrowse link
G F7 coagulation factor VII no_association
severity
ISO associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human)
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human)
RGD PMID:8250495, PMID:8458188, PMID:9187410 RGD:2312406, RGD:2312407, RGD:2312410 NCBI chrNW_004955404:685,170...692,797
Ensembl chrNW_004955404:680,594...693,665
JBrowse link
G Fbn1 fibrillin 1 ISO associated with Hypertension RGD PMID:16380460 RGD:7365080 NCBI chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 ISO associated with Diabetes Mellitus; protein:increased activity:serum RGD PMID:15890893 RGD:2315606 NCBI chrNW_004955455:8,082,578...8,099,523 JBrowse link
G Gnaq G protein subunit alpha q ISO CTD Direct Evidence: marker/mechanism CTD PMID:16267159 NCBI chrNW_004955512:1,381,159...1,658,409 JBrowse link
G Gpc5 glypican 5 ISO CTD Direct Evidence: therapeutic CTD PMID:21441931 NCBI chrNW_004955404:16,824,366...18,091,464
Ensembl chrNW_004955404:16,827,833...18,091,256
JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO associated with Anemia, Sickle Cell;protein:increased expression:urine: RGD PMID:21630304 RGD:7245982 NCBI chrNW_004955408:11,047,679...11,070,492 JBrowse link
G Igf1 insulin like growth factor 1 susceptibility ISO RGD PMID:16645019 RGD:1598420 NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152
JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:23103566 RGD:7175089 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17167242 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Ins insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:9861226, PMID:29420703 NCBI chrNW_004955422:13,909,408...13,910,419
Ensembl chrNW_004955422:13,909,407...13,910,419
JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17065336, PMID:20175764, PMID:23159718, PMID:28130181, PMID:29988851 NCBI chrNW_004955423:25,108,897...25,185,315
Ensembl chrNW_004955423:25,111,266...25,185,407
JBrowse link
G Lipc lipase C, hepatic type ISO associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma (human) RGD PMID:8666151 RGD:2308836 NCBI chrNW_004955450:15,947,869...16,062,449
Ensembl chrNW_004955450:15,948,187...16,048,766
JBrowse link
G Lrp2 LDL receptor related protein 2 ISO RGD PMID:12121845 RGD:1641839 NCBI chrNW_004955449:5,155,109...5,314,886
Ensembl chrNW_004955449:5,160,946...5,314,948
JBrowse link
G Mmp9 matrix metallopeptidase 9 onset ISO associated with Diabetes Mellitus, Type 2; protein:increased expression:plasma (human) RGD PMID:9774113 RGD:7207214 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO associated with Diabetes Mellitus, Type 2; DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) RGD PMID:22554825 RGD:6893631 NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240
JBrowse link
G Myh9 myosin heavy chain 9 ISO associated with hypertension;DNA:SNPs: : RGD PMID:19153477 RGD:6903241 NCBI chrNW_004955413:22,881,759...22,972,182
Ensembl chrNW_004955413:22,881,045...22,972,450
JBrowse link
G Nck1 NCK adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chrNW_004955501:1,867,956...1,963,091 JBrowse link
G Nck2 NCK adaptor protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chrNW_004955470:10,487,962...10,593,046
Ensembl chrNW_004955470:10,487,481...10,593,046
JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15684566 NCBI chrNW_004955406:18,862,054...18,885,214
Ensembl chrNW_004955406:18,863,446...18,885,279
JBrowse link
G Pdpn podoplanin ISO RGD PMID:18199599 RGD:2292240 NCBI chrNW_004955527:4,183,639...4,215,200 JBrowse link
G Pon1 paraoxonase 1 ISO DNA:polymorphisms:promoter, cds (human) RGD PMID:16949520 RGD:2313272 NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO associated with Diabetes Mellitus, Type 2; DNA:snp:cds:g.75919G>A rs8192678 (human) RGD PMID:22684233 RGD:7242025 NCBI chrNW_004955480:543,397...1,188,376
Ensembl chrNW_004955480:1,078,322...1,188,435
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17890881 NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171
JBrowse link
G Pth parathyroid hormone ISO associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human) RGD PMID:23066118 RGD:7242730 NCBI chrNW_004955414:28,828,389...28,831,417
Ensembl chrNW_004955414:28,825,651...28,831,117
JBrowse link
G Rab38 RAB38, member RAS oncogene family ISO RGD PMID:15758045 RGD:1357409 NCBI chrNW_004955414:5,158,860...5,214,108
Ensembl chrNW_004955414:5,158,261...5,215,698
JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12414515, PMID:18679781 NCBI chrNW_004955406:40,016,624...40,026,286
Ensembl chrNW_004955406:40,016,630...40,026,286
JBrowse link
G Retn resistin ISO associated with Hypertension;protein:increased expression:blood RGD PMID:20203628 RGD:7207150 NCBI chrNW_004955563:1,607,814...1,609,273
Ensembl chrNW_004955563:1,607,814...1,609,273
JBrowse link
G Serpine1 serpin family E member 1 ISO associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human) RGD PMID:9201602 RGD:8547710 NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142
JBrowse link
G Serpinf1 serpin family F member 1 treatment ISO associated with Diabetes Mellitus, Experimental; human gene in a rat model RGD PMID:16731830 RGD:8554875 NCBI chrNW_004955481:1,414,930...1,426,436
Ensembl chrNW_004955481:1,414,930...1,426,241
JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO RGD PMID:25776069 RGD:13442483 NCBI chrNW_004955482:8,079,905...8,100,791
Ensembl chrNW_004955482:8,096,160...8,097,765
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17942768 NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:18443355 RGD:6903862 NCBI chrNW_004955474:1,914,477...1,922,025
Ensembl chrNW_004955474:1,913,829...1,922,016
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17167242 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
JBrowse link
G Trpc3 transient receptor potential cation channel subfamily C member 3 ISO associated with Hypertension;mRNA, protein:increased expression:kidney cortex RGD PMID:19887786 RGD:7247603 NCBI chrNW_004955428:18,628,951...18,678,525
Ensembl chrNW_004955428:18,628,890...18,678,906
JBrowse link
G Trpc5 transient receptor potential cation channel subfamily C member 5 ISO RGD PMID:24231357 RGD:10043830 NCBI chrNW_004955490:3,777,756...4,057,275
Ensembl chrNW_004955490:3,860,909...4,057,275
JBrowse link
G Trpc6 transient receptor potential cation channel subfamily C member 6 ISO associated with Hypertension;mRNA:decreased expression:kidney cortex RGD PMID:19887786, PMID:21839714 RGD:7247445, RGD:7247603 NCBI chrNW_004955412:4,905,039...5,019,678
Ensembl chrNW_004955412:4,906,650...4,950,525
JBrowse link
G Tslp thymic stromal lymphopoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17686814 NCBI chrNW_004955418:4,041,529...4,045,534 JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma RGD PMID:18299691 RGD:2312766 NCBI chrNW_004955435:5,390,745...5,410,025
Ensembl chrNW_004955435:5,390,751...5,411,691
JBrowse link
Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a3 collagen type IV alpha 3 chain susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alport syndrome
ClinVar Annotator: match by term: Alport syndrome, autosomal dominant
DNA:deletion, nonsense mutations
CTD
ClinVar
RGD
PMID:7987301, PMID:11134255, PMID:12028435, PMID:12631109, PMID:14582039, PMID:14871398, PMID:15880327, PMID:15954103, PMID:17216251, PMID:18385178, PMID:19525337, PMID:20847057, PMID:21862460, PMID:22887978, PMID:23967202, PMID:24033266, PMID:24052634, PMID:24854265, PMID:25229338, PMID:25307543, PMID:25407002, PMID:25514610, PMID:25596306, PMID:25741868, PMID:25888712, PMID:26346198, PMID:26467025, PMID:26795916, PMID:26809805, PMID:26934356, PMID:27391953, PMID:27627812, PMID:27859054, PMID:28492532, PMID:28632965 RGD:1600924 NCBI chrNW_004955453:7,261,278...7,351,414 JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Alport syndrome
ClinVar Annotator: match by term: Alport syndrome, autosomal recessive
ClinVar PMID:1721625, PMID:9792860, PMID:11134255, PMID:11685592, PMID:11961012, PMID:12028435, PMID:12631110, PMID:14582039, PMID:14871398, PMID:15618242, PMID:15880327, PMID:17216251, PMID:17396119, PMID:19129241, PMID:19675380, PMID:20029656, PMID:22887978, PMID:23349334, PMID:23967202, PMID:24033266, PMID:24130771, PMID:25381091, PMID:25514610, PMID:25575550, PMID:25741868, PMID:25755845, PMID:26467025, PMID:26809805, PMID:26934356, PMID:27884173, PMID:28059119, PMID:28492532, PMID:28780565, PMID:29098738 NCBI chrNW_004955453:7,405,167...7,524,038
Ensembl chrNW_004955453:7,420,203...7,520,200
JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO Alport Syndrome, OMIM:301050, DNA:deletion:exons
ClinVar Annotator: match by term: Alport syndrome
RGD
ClinVar
PMID:2349482, PMID:8651292, PMID:9848783, PMID:10563487, PMID:11223851, PMID:18083113, PMID:19919694, PMID:23572034, PMID:25741868, PMID:26467025, PMID:27627812, PMID:28492532 RGD:1600687 NCBI chrNW_004955490:7,168,725...7,409,655
Ensembl chrNW_004955490:7,168,676...7,409,887
JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:22937108 RGD:7175090 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO RGD PMID:16816359 RGD:7241212 NCBI chrNW_004955412:6,045,146...6,057,112
Ensembl chrNW_004955412:6,045,100...6,057,262
JBrowse link
G Myh9 myosin heavy chain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10973259 NCBI chrNW_004955413:22,881,759...22,972,182
Ensembl chrNW_004955413:22,881,045...22,972,450
JBrowse link
amelogenesis imperfecta type 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20a FAM20A golgi associated secretory pathway pseudokinase ISO OMIM NCBI chrNW_004955478:4,182,568...4,236,819
Ensembl chrNW_004955478:4,182,568...4,236,819
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Enamel-renal syndrome
ClinVar Annotator: match by term: Amelogenesis imperfecta and gingival fibromatosis syndrome
ClinVar PMID:21990045, PMID:23434854, PMID:23468644, PMID:24196488, PMID:25741868 NCBI chrNW_004955478:4,241,283...4,262,119
Ensembl chrNW_004955478:4,241,283...4,263,087
JBrowse link
AMME complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a6 collagen type IV alpha 6 chain ISO OMIM NCBI chrNW_004955490:7,409,687...7,764,300
Ensembl chrNW_004955490:7,409,160...7,762,929
JBrowse link
anti-basement membrane glomerulonephritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO mRNA, protein:increased expression:liver, plasma
protein:increased expression:kidney, urine
RGD PMID:7550093, PMID:21282555 RGD:11039051, RGD:5129185 NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357
JBrowse link
G Agtr1 angiotensin II receptor type 1 ISO protein:increased expression:kidney RGD PMID:21282555 RGD:5129185 NCBI chrNW_004955474:8,733,942...8,781,305
Ensembl chrNW_004955474:8,733,942...8,781,255
JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO mRNA, protein:increased expression:kidney RGD PMID:12234300 RGD:1579984 NCBI chrNW_004955559:1,695,960...1,700,246
Ensembl chrNW_004955559:1,695,960...1,700,244
JBrowse link
G Bcl2 BCL2 apoptosis regulator ISO mRNA, protein:decreased expression:kidney RGD PMID:12234300 RGD:1579984 NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485
JBrowse link
G Ccl17 C-C motif chemokine ligand 17 ISO mRNA:increased expression:glomerulus RGD PMID:20071465 RGD:4145614 NCBI chrNW_004955433:15,052,616...15,054,732
Ensembl chrNW_004955433:15,053,061...15,054,572
JBrowse link
G Ccl22 C-C motif chemokine ligand 22 ISO mRNA, protein:increased expression:glomerulus RGD PMID:12651599 RGD:2306306 NCBI chrNW_004955433:15,002,001...15,007,324
Ensembl chrNW_004955433:15,001,930...15,008,032
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:glomerulus RGD PMID:17898087 RGD:2307059 NCBI chrNW_004955481:10,293,758...10,301,118
Ensembl chrNW_004955481:10,293,399...10,301,143
JBrowse link
G Cd274 CD274 molecule treatment ISO RGD PMID:21965585 RGD:7248671 NCBI chrNW_004955434:9,487,309...9,508,366
Ensembl chrNW_004955434:9,487,315...9,505,904
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:15210767 RGD:7248442 NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093
JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:15458437 RGD:5508170 NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
JBrowse link
G Cd80 CD80 molecule ISO RGD PMID:10712436 RGD:6902936 NCBI chrNW_004955427:19,237,251...19,274,001
Ensembl chrNW_004955427:19,236,445...19,261,517
JBrowse link
G Cfb complement factor B ISO RGD PMID:22492944 RGD:7242700 NCBI chrNW_004955437:461,235...466,908 JBrowse link
G Clu clusterin ISO protein:increased expression:urine RGD PMID:23791361 RGD:9068422 NCBI chrNW_004955403:50,160,598...50,175,876
Ensembl chrNW_004955403:50,160,598...50,175,876
JBrowse link
G Csf1 colony stimulating factor 1 treatment ISO RGD PMID:19242505 RGD:7257569 NCBI chrNW_004955435:13,404,236...13,423,059
Ensembl chrNW_004955435:13,404,508...13,424,247
JBrowse link
G Csf1r colony stimulating factor 1 receptor treatment ISO RGD PMID:19242505 RGD:7257569 NCBI chrNW_004955415:4,434,486...4,462,505
Ensembl chrNW_004955415:4,434,453...4,461,751
JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 treatment ISO RGD PMID:8206086, PMID:10712436 RGD:11352257, RGD:6902936 NCBI chrNW_004955457:11,028,707...11,034,898
Ensembl chrNW_004955457:11,028,698...11,073,460
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO mRNA, protein:increased expression:glomerulus RGD PMID:19590241 RGD:4891946 NCBI chrNW_004955433:15,023,272...15,034,650
Ensembl chrNW_004955433:15,023,050...15,034,711
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO mRNA, protein:increased expression:glomerulus RGD PMID:19590241 RGD:4891946 NCBI chrNW_004955427:24,691,206...24,705,599
Ensembl chrNW_004955427:24,701,073...24,707,230
JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 ISO mRNA:increased expression:glomerulus RGD PMID:17557270 RGD:2306579 NCBI chrNW_004955546:1,929,269...1,941,690
Ensembl chrNW_004955546:1,929,269...1,941,690
JBrowse link
G Dusp1 dual specificity phosphatase 1 ISO mRNA:increased expression:glomerulus RGD PMID:8587253 RGD:633769 NCBI chrNW_004955408:25,481,294...25,484,381
Ensembl chrNW_004955408:25,481,294...25,484,381
JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:23826305 RGD:7365004 NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
JBrowse link
G Il17a interleukin 17A treatment ISO RGD PMID:23826305 RGD:7365004 NCBI chrNW_004955411:5,896,435...5,899,911
Ensembl chrNW_004955411:5,896,702...5,900,962
JBrowse link
G Il18 interleukin 18 ISO RGD PMID:22046355 RGD:6893447 NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
JBrowse link
G Il1b interleukin 1 beta ISO mRNA, protein:increased expression:kidney
mRNA:increased expression:kidney (mouse)
RGD PMID:9198037, PMID:22046355 RGD:6893447, RGD:7401232 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO RGD PMID:20071465 RGD:4145614 NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471
JBrowse link
G Il4 interleukin 4 ISO RGD PMID:9350645, PMID:17898087 RGD:2307059, RGD:2317673 NCBI chrNW_004955408:4,058,052...4,065,999 JBrowse link
G Itga4 integrin subunit alpha 4 treatment ISO RGD PMID:7679412, PMID:9032136 RGD:2308810, RGD:9698425 NCBI chrNW_004955403:15,726,296...15,807,055
Ensembl chrNW_004955403:15,723,785...15,807,111
JBrowse link
G LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain ISO RGD PMID:21569485 RGD:5147561 NCBI chrNW_004955437:1,655,092...1,666,552
Ensembl chrNW_004955437:1,635,538...1,669,042
JBrowse link
G Mapk14 mitogen-activated protein kinase 14 ISO RGD PMID:21894146 RGD:6218988 NCBI chrNW_004955437:3,836,331...3,884,083
Ensembl chrNW_004955437:3,838,232...3,884,083
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:21894146 RGD:6218988 NCBI chrNW_004955556:1,593,552...1,705,543
Ensembl chrNW_004955556:1,593,494...1,665,784
JBrowse link
G Mif macrophage migration inhibitory factor ISO RGD PMID:10780884 RGD:1642011 NCBI chrNW_004955455:8,367,566...8,368,460
Ensembl chrNW_004955455:8,367,566...8,368,460
JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO RGD PMID:21894146 RGD:6218988 NCBI chrNW_004955412:6,045,146...6,057,112
Ensembl chrNW_004955412:6,045,100...6,057,262
JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO mRNA:increased expression:kidney, macrophage RGD PMID:10878552 RGD:2314954 NCBI chrNW_004955409:37,438,924...37,448,704
Ensembl chrNW_004955409:37,440,541...37,448,437
JBrowse link
G Nos2 nitric oxide synthase 2 ISO RGD PMID:21894146 RGD:6218988 NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961
JBrowse link
G Nppb natriuretic peptide B ISO RGD PMID:11729234 RGD:7248605 NCBI chrNW_004955486:2,054,775...2,056,130 JBrowse link
G Pdcd1 programmed cell death 1 treatment ISO RGD PMID:21965585 RGD:7248671 NCBI chrNW_004955542:49,290...57,747
Ensembl chrNW_004955542:49,259...58,823
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO RGD PMID:17888025 RGD:5563035 NCBI chrNW_004955413:30,306,563...30,366,245
Ensembl chrNW_004955413:30,307,219...30,359,500
JBrowse link
G Ptk2b protein tyrosine kinase 2 beta ISO protein:increased expression:glomerulus RGD PMID:11774117 RGD:729912 NCBI chrNW_004955403:49,856,056...49,970,800
Ensembl chrNW_004955403:49,855,541...49,973,225
JBrowse link
G Rapgef1 Rap guanine nucleotide exchange factor 1 ISO protein:increased expression:renal glomerulus RGD PMID:18784646 RGD:11534983 NCBI chrNW_004955513:1,224,418...1,328,176
Ensembl chrNW_004955513:1,226,205...1,315,922
JBrowse link
G Selp selectin P ISO RGD PMID:21894146 RGD:6218988 NCBI chrNW_004955462:7,658,371...7,692,870
Ensembl chrNW_004955462:7,652,437...7,693,994
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO protein:decreased expression:kidney, brush border membrane (mouse) RGD PMID:19193726 RGD:7242947 NCBI chrNW_004955408:29,626,775...29,640,811
Ensembl chrNW_004955408:29,626,775...29,640,875
JBrowse link
G Slit2 slit guidance ligand 2 ISO mRNA:decreased expression:kidney, glomerulus RGD PMID:15215188 RGD:2316132 NCBI chrNW_004955480:3,982,977...4,314,160
Ensembl chrNW_004955480:3,984,586...4,313,908
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:20504883 RGD:6903276 NCBI chrNW_004955474:1,914,477...1,922,025
Ensembl chrNW_004955474:1,913,829...1,922,016
JBrowse link
G Syk spleen associated tyrosine kinase ISO RGD PMID:21894146 RGD:6218988 NCBI chrNW_004955515:1,328,793...1,400,206
Ensembl chrNW_004955515:1,328,630...1,380,581
JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:21894146 RGD:6218988 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO protein:increased expression:urine, serum: RGD PMID:23460853 RGD:7241232 NCBI chrNW_004955435:5,390,745...5,410,025
Ensembl chrNW_004955435:5,390,751...5,411,691
JBrowse link
G Xcl1 X-C motif chemokine ligand 1 ISO mRNA:increased expression:glomerulus RGD PMID:9717977 RGD:8693304 NCBI chrNW_004955462:8,594,416...8,598,101 JBrowse link
anuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO CTD Direct Evidence: therapeutic CTD PMID:8527259 NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6734075 NCBI chrNW_004955447:9,327...21,212 JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8225663 NCBI chrNW_004955437:17,995,726...18,000,542
Ensembl chrNW_004955437:17,994,537...18,000,209
JBrowse link
G Prkab1 protein kinase AMP-activated non-catalytic subunit beta 1 treatment ISO RGD PMID:27782167 RGD:39128183 NCBI chrNW_004955455:11,877,407...11,889,987
Ensembl chrNW_004955455:11,876,661...11,890,069
JBrowse link
ARC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190753 NCBI chrNW_004955438:1,320,862...1,351,344
Ensembl chrNW_004955438:1,321,845...1,347,535
JBrowse link
G Vps33b VPS33B late endosome and lysosome associated ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
CTD
ClinVar
PMID:25741868 NCBI chrNW_004955416:15,049,849...15,071,108 JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 ClinVar PMID:25741868, PMID:31319225 NCBI chrNW_004955438:1,320,862...1,351,344
Ensembl chrNW_004955438:1,321,845...1,347,535
JBrowse link
G Vps33b VPS33B late endosome and lysosome associated ISO OMIM NCBI chrNW_004955416:15,049,849...15,071,108 JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO OMIM NCBI chrNW_004955438:1,320,862...1,351,344
Ensembl chrNW_004955438:1,321,845...1,347,535
JBrowse link
atypical hemolytic-uremic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO protein:decreased activity:serum (human) RGD PMID:12640381 RGD:10449096 NCBI chrNW_004955513:2,761,386...2,786,447
Ensembl chrNW_004955513:2,764,186...2,786,187
JBrowse link
G Baat bile acid-CoA:amino acid N-acyltransferase ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 ClinVar NCBI chrNW_004955419:24,469,213...24,521,728
Ensembl chrNW_004955419:24,443,172...24,520,467
JBrowse link
G C2 complement C2 ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar PMID:2249879, PMID:6308626, PMID:8181962, PMID:16518403, PMID:16936732, PMID:18806293, PMID:20108004, PMID:20513133, PMID:21541267, PMID:22440158, PMID:24033266, PMID:24652797, PMID:25741868 NCBI chrNW_004955437:449,171...460,898
Ensembl chrNW_004955437:448,672...460,519
JBrowse link
G C3 complement C3 susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
DNA:missense mutations: :p.F603V, p.R1042L, p.I1157T (human)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
RGD
CTD
PMID:1976733, PMID:14639503, PMID:17517971, PMID:17634448, PMID:18325906, PMID:18796626, PMID:19168221, PMID:20301541, PMID:20513133, PMID:20595690, PMID:23314101, PMID:23431077, PMID:24036949, PMID:24036950, PMID:24036952, PMID:24736606, PMID:24845532, PMID:25608561, PMID:25741868, PMID:25951460, PMID:26613027, PMID:28492532 RGD:11040768, RGD:7364995 NCBI chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697
JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 ClinVar NCBI chrNW_004955413:6,707,003...6,715,689
Ensembl chrNW_004955413:6,707,689...6,715,689
JBrowse link
G Cd46 CD46 molecule susceptibility
severity
ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
DNA:mutations:cds:multiple (human)
DNA:missense mutations:cds:p.R69W, p.A304V (human)
DNA:snp:intron:c.IVS8+23T>G (rs2724374) (human)
CTD Direct Evidence: marker/mechanism
protein:increased expression:peripheral blood mononuclear cell (human)
OMIM
ClinVar
RGD
CTD
PMID:270646, PMID:3480783, PMID:9551389, PMID:10528197, PMID:14566051, PMID:14615110, PMID:16353080, PMID:16621965, PMID:16762990, PMID:16882452, PMID:17089378, PMID:17914026, PMID:20513133, PMID:20595690, PMID:21706448, PMID:23431077, PMID:23731345, PMID:24033266, PMID:24161037, PMID:24247905, PMID:24944786, PMID:25381125, PMID:25525159, PMID:25741868, PMID:25899302, PMID:26054645, PMID:26307634, PMID:26559391, PMID:28056875, PMID:28492532 RGD:11038684, RGD:11040768, RGD:11352768, RGD:11352810 NCBI chrNW_004955406:43,002,817...43,034,555 JBrowse link
G Cfb complement factor B susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA, protein:mutations:cds: c.858C>G, F286L, c.967A>G, K323E (human)
DNA:nonsense mutations: :multiple
OMIM
ClinVar
CTD
RGD
PMID:2249879, PMID:6308626, PMID:7452889, PMID:8181962, PMID:15661753, PMID:16518403, PMID:16936732, PMID:17182750, PMID:18806293, PMID:20108004, PMID:20513133, PMID:21541267, PMID:22440158, PMID:23847193, PMID:24033266, PMID:24652797, PMID:25741868, PMID:26054779 RGD:11040768, RGD:7242707 NCBI chrNW_004955437:461,235...466,908 JBrowse link
G Cfi complement factor I susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
RGD
CTD
PMID:15173250, PMID:16621965, PMID:18557729, PMID:18825487, PMID:19877009, PMID:20016463, PMID:20106822, PMID:20203157, PMID:20513133, PMID:20595690, PMID:22710145, PMID:23307876, PMID:23314101, PMID:23431077, PMID:23685748, PMID:23787556, PMID:24033266, PMID:24034049, PMID:24036952, PMID:24161037, PMID:25037630, PMID:25135378, PMID:25741868, PMID:25758434, PMID:27268256, PMID:28282489, PMID:28492532 RGD:6906889 NCBI chrNW_004955496:492,217...553,398 JBrowse link
G Dgke diacylglycerol kinase epsilon ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7
ClinVar Annotator: match by term: atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD
ClinVar
PMID:23542698, PMID:24511134, PMID:24747643, PMID:25741868, PMID:29590070, PMID:30311386 NCBI chrNW_004955451:5,966,773...5,988,004
Ensembl chrNW_004955451:5,969,070...5,988,004
JBrowse link
G Thbd thrombomodulin susceptibility
severity
no_association
ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
DNA:missense mutations:CDS:multiple
DNA:SNPs:5' utr, 3' utr:multiple
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
RGD
CTD
PMID:7811989, PMID:10460600, PMID:11986219, PMID:12139752, PMID:17677000, PMID:19625716, PMID:20595690, PMID:23332921, PMID:24933457, PMID:25135378, PMID:25741868, PMID:28492532 RGD:11038684, RGD:11038691 NCBI chrNW_004955415:30,222,830...30,226,406 JBrowse link
atypical teratoid rhabdoid tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alk ALK receptor tyrosine kinase ISO ClinVar Annotator: match by term: Atypical teratoid rhabdoid tumor ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004955469:11,049,373...11,751,235
Ensembl chrNW_004955469:11,047,048...11,548,233
JBrowse link
G Atrx ATRX chromatin remodeler ISO ClinVar Annotator: match by term: Atypical teratoid rhabdoid tumor ClinVar PMID:7697714, PMID:8968741, PMID:18414213, PMID:22995991, PMID:24082139, PMID:24728327, PMID:25741868, PMID:26467025, PMID:28293299, PMID:28492530, PMID:28492532, PMID:29304373, PMID:29602769, PMID:29910053 NCBI chrNW_004955557:947,368...1,252,701
Ensembl chrNW_004955557:947,167...1,252,724
JBrowse link
G Derl3 derlin 3 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955455:8,415,868...8,418,753
Ensembl chrNW_004955455:8,415,839...8,421,762
JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO OMIM NCBI chrNW_004955455:8,420,263...8,457,105
Ensembl chrNW_004955455:8,415,839...8,457,097
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Atypical teratoid rhabdoid tumor ClinVar PMID:1565143, PMID:1591732, PMID:7565304, PMID:7783166, PMID:8550239, PMID:8718514, PMID:9218725, PMID:9242456, PMID:9364015, PMID:9667734, PMID:10519380, PMID:10922393, PMID:11370630, PMID:12826609, PMID:12885464, PMID:12917626, PMID:15722483, PMID:15925506, PMID:15951970, PMID:16401470, PMID:16494995, PMID:16551709, PMID:17015838, PMID:17311302, PMID:17606709, PMID:18511570, PMID:20128691, PMID:20522432, PMID:21343334, PMID:21761402, PMID:23538418, PMID:24033266, PMID:24122735, PMID:24835218, PMID:25157968, PMID:25741868, PMID:26205489, PMID:26225655, PMID:26619011, PMID:26786923, PMID:27621308, PMID:28492532 NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
JBrowse link
Autoimmune Interstitial Lung, Joint, and Kidney Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Copa COPI coat complex subunit alpha ISO OMIM NCBI chrNW_004955468:12,062,942...12,111,048
Ensembl chrNW_004955468:12,059,089...12,111,805
JBrowse link
autosomal dominant Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a3 collagen type IV alpha 3 chain ISO OMIM NCBI chrNW_004955453:7,261,278...7,351,414 JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant
ClinVar Annotator: match by term: Alport syndrome, autosomal dominant
ClinVar PMID:9792860, PMID:11961012, PMID:12631110, PMID:12748344, PMID:15618242, PMID:19129241, PMID:21897443, PMID:24033266, PMID:24052634, PMID:24633401, PMID:25525159, PMID:25596306, PMID:25741868, PMID:26467025, PMID:26809805, PMID:28492532 NCBI chrNW_004955453:7,405,167...7,524,038
Ensembl chrNW_004955453:7,420,203...7,520,200
JBrowse link
G Myh9 myosin heavy chain 9 ISO DNA:missense mutation:exon:4270G>C,D1424H (human) RGD PMID:12500226 RGD:6902925 NCBI chrNW_004955413:22,881,759...22,972,182
Ensembl chrNW_004955413:22,881,045...22,972,450
JBrowse link
Autosomal Dominant Hypocalcemia, with Bartter Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium sensing receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome
CTD
ClinVar
PMID:11152759, PMID:12107202, PMID:12191970, PMID:12241879, PMID:15005845, PMID:17048213, PMID:25741868 NCBI chrNW_004955427:21,486,608...21,574,017
Ensembl chrNW_004955427:21,486,427...21,575,210
JBrowse link
autosomal dominant hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf23 fibroblast growth factor 23 ISO OMIM NCBI chrNW_004955413:2,182,459...2,192,279
Ensembl chrNW_004955413:2,182,459...2,192,279
JBrowse link
autosomal dominant polycystic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg2 ATP binding cassette subfamily G member 2 (Junior blood group) ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955474:12,365,903...12,408,715 JBrowse link
G Angpt2 angiopoietin 2 ISO protein:increased expression:bile duct (rat) RGD PMID:16628643 RGD:2314213 NCBI chrNW_004955403:54,139,823...54,193,740
Ensembl chrNW_004955403:54,139,823...54,195,032
JBrowse link
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12089381 NCBI chrNW_004955419:26,801,924...26,852,116
Ensembl chrNW_004955419:26,801,925...26,851,627
JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25877301 NCBI chrNW_004955495:7,959,033...7,989,216
Ensembl chrNW_004955495:7,957,510...7,988,498
JBrowse link
G Bricd5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955442:15,054,116...15,056,506
Ensembl chrNW_004955442:15,055,513...15,060,526
JBrowse link
G C9 complement C9 disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chrNW_004955426:23,790,792...23,824,117 JBrowse link
G Caskin1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955442:15,075,427...15,092,786
Ensembl chrNW_004955442:15,030,219...15,092,786
JBrowse link
G Cd14 CD14 molecule disease_progression ISO protein:altered localization:kidney,urine RGD PMID:20555320 RGD:7204130 NCBI chrNW_004955418:73,736...75,345
Ensembl chrNW_004955418:73,897...75,224
JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO protein:decreased expression:kidney RGD PMID:17714589 RGD:2289666 NCBI chrNW_004955437:6,254,638...6,261,278
Ensembl chrNW_004955437:6,254,309...6,261,479
JBrowse link
G Cfb complement factor B disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chrNW_004955437:461,235...466,908 JBrowse link
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955474:2,188,090...2,200,284 JBrowse link
G Dnase1l2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955442:15,028,168...15,031,110
Ensembl chrNW_004955442:15,028,168...15,031,110
JBrowse link
G Dspp dentin sialophosphoprotein ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955474:2,254,842...2,259,303 JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955442:15,031,210...15,041,437
Ensembl chrNW_004955442:15,030,363...15,041,877
JBrowse link
G Edn1 endothelin 1 ISO mRNA, protein:increased expression:kidney (human) RGD PMID:12629276 RGD:4144854 NCBI chrNW_004955465:2,287,906...2,314,945
Ensembl chrNW_004955465:2,287,798...2,314,753
JBrowse link
G Fam13a family with sequence similarity 13 member A ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955474:11,615,090...11,712,766
Ensembl chrNW_004955474:11,614,830...11,714,369
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO protein: increased expression: kidney RGD PMID:16049073 RGD:7242198 NCBI chrNW_004955523:307,181...310,728
Ensembl chrNW_004955523:305,728...310,728
JBrowse link
G Ganab glucosidase II alpha subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant
CTD
ClinVar
NCBI chrNW_004955599:556,510...569,891
Ensembl chrNW_004955599:556,362...573,353
JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chrNW_004955453:15,109,711...15,112,438
Ensembl chrNW_004955453:15,109,711...15,112,438
JBrowse link
G Gprin3 GPRIN family member 3 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955405:253,917...265,309
Ensembl chrNW_004955405:254,105...256,414
JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO protein:increased expression:kidney: RGD PMID:12388382 RGD:7245969 NCBI chrNW_004955408:11,047,679...11,070,492 JBrowse link
G Herc3 HECT and RLD domain containing E3 ubiquitin protein ligase 3 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955474:11,725,323...11,871,132 JBrowse link
G Herc5 HECT and RLD domain containing E3 ubiquitin protein ligase 5 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955474:11,954,915...11,991,849 JBrowse link
G Hsd17b11 hydroxysteroid 17-beta dehydrogenase 11 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955474:2,477,670...2,510,424
Ensembl chrNW_004955474:2,472,876...2,512,651
JBrowse link
G Hsd17b13 hydroxysteroid 17-beta dehydrogenase 13 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955474:2,532,213...2,554,324
Ensembl chrNW_004955474:2,532,213...2,555,260
JBrowse link
G Ibsp integrin binding sialoprotein ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955474:2,074,659...2,086,289
Ensembl chrNW_004955474:2,074,659...2,086,289
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:decreased expression:urine (human) RGD PMID:9090470 RGD:6909172 NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471
JBrowse link
G Itga8 integrin subunit alpha 8 ISO mRNA:increased expression:kidney RGD PMID:18277079 RGD:7257723 NCBI chrNW_004955429:11,932,764...12,120,757
Ensembl chrNW_004955429:11,932,570...12,120,821
JBrowse link
G Klhl8 kelch like family member 8 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955474:2,652,992...2,710,616
Ensembl chrNW_004955474:2,652,992...2,710,616
JBrowse link
G Lrp2 LDL receptor related protein 2 ISO RGD PMID:11841627 RGD:1641842 NCBI chrNW_004955449:5,155,109...5,314,886
Ensembl chrNW_004955449:5,160,946...5,314,948
JBrowse link
G Lrp5 LDL receptor related protein 5 susceptibility ISO DNA:missense mutation:cds:multiple mutations (human) RGD PMID:25920554 RGD:11553546 NCBI chrNW_004955422:17,394,371...17,475,244
Ensembl chrNW_004955422:17,394,371...17,505,763
JBrowse link
G Mepe matrix extracellular phosphoglycoprotein ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955474:2,048,883...2,064,515 JBrowse link
G Mlst8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955442:15,056,363...15,060,300
Ensembl chrNW_004955442:15,056,363...15,060,300
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:plasma (human) RGD PMID:10644865 RGD:7207194 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:23195001 RGD:7245504 NCBI chrNW_004955486:2,487,642...2,599,694
Ensembl chrNW_004955486:2,487,642...2,599,694
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:kidney (mouse)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18356167, PMID:25877301 RGD:7207457 NCBI chrNW_004955461:2,714,022...2,718,872
Ensembl chrNW_004955461:2,714,022...2,718,982
JBrowse link
G Nap1l5 nucleosome assembly protein 1 like 5 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955474:11,743,565...11,745,311 JBrowse link
G Nudt9 nudix hydrolase 9 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955474:2,402,400...2,438,145
Ensembl chrNW_004955474:2,397,665...2,438,048
JBrowse link
G Pgp phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955442:15,051,149...15,053,123
Ensembl chrNW_004955442:15,051,183...15,052,289
JBrowse link
G Pigy phosphatidylinositol glycan anchor biosynthesis class Y ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955474:11,945,871...11,946,419
Ensembl chrNW_004955474:11,944,302...11,947,092
JBrowse link
G Pitx2 paired like homeodomain 2 ISO mRNA:increased expression:kidney RGD PMID:20926632 RGD:5131995 NCBI chrNW_004955457:15,803,493...15,823,193
Ensembl chrNW_004955457:15,803,219...15,823,310
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting severity ISO DNA:mutations:multiple
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant
DNA:missense mutation:cds:p.R3277C (mouse)
CTD Direct Evidence: marker/mechanism
DNA:mutations:exons, intron:multiple
RGD
ClinVar
CTD
PMID:7581371, PMID:8004675, PMID:8554072, PMID:9521593, PMID:10200984, PMID:10364515, PMID:10854095, PMID:10987650, PMID:11058904, PMID:11115377, PMID:11216660, PMID:11558899, PMID:11571556, PMID:11691639, PMID:11840199, PMID:11857740, PMID:11967008, PMID:12007219, PMID:12070253, PMID:12089381, PMID:12482949, PMID:12842373, PMID:15772804, PMID:16430766, PMID:17574468, PMID:17582161, PMID:18077784, PMID:18640754, PMID:18837007, PMID:19165178, PMID:19401297, PMID:19686598, PMID:20558538, PMID:20981092, PMID:21115670, PMID:22008521, PMID:22090377, PMID:22185115, PMID:22333914, PMID:22383692, PMID:22508176, PMID:22608885, PMID:23064367, PMID:23300259, PMID:23431072, PMID:23760289, PMID:24033266, PMID:24374109, PMID:24694054, PMID:25333066, PMID:25646624, PMID:25741868, PMID:25877301, PMID:26139440, PMID:26453610, PMID:26467025, PMID:26632257, PMID:26661679, PMID:27499327, PMID:27567292, PMID:27884173, PMID:27894351, PMID:28887310, PMID:30333007 RGD:1601399, RGD:7175279, RGD:7175280 NCBI chrNW_004955442:15,132,555...15,178,377
Ensembl chrNW_004955442:15,145,640...15,178,377
JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel onset ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant
DNA:mutations:multiple
CTD
ClinVar
RGD
PMID:8650545, PMID:9573526, PMID:9856513, PMID:9856528, PMID:10411676, PMID:10497221, PMID:10541293, PMID:10760080, PMID:11007674, PMID:11095651, PMID:11967008, PMID:11968093, PMID:12089381, PMID:12707387, PMID:12842373, PMID:14993477, PMID:15001556, PMID:15192819, PMID:15772804, PMID:15775720, PMID:16223735, PMID:16430766, PMID:16540757, PMID:17100995, PMID:17429049, PMID:17574468, PMID:17582161, PMID:18257781, PMID:18664456, PMID:18837007, PMID:19491093, PMID:19556541, PMID:19936001, PMID:20168298, PMID:20881056, PMID:20950398, PMID:21115670, PMID:21551026, PMID:22008521, PMID:22034641, PMID:22185115, PMID:22383692, PMID:22508176, PMID:22863349, PMID:22995991, PMID:23300259, PMID:23376035, PMID:24374109, PMID:24611717, PMID:24658975, PMID:24719335, PMID:24925719, PMID:25333066, PMID:25574838, PMID:25741868, PMID:25877301, PMID:26275819, PMID:26364947, PMID:26467025, PMID:26632257, PMID:26692149, PMID:27401137, PMID:27499327, PMID:27567292, PMID:27782177, PMID:27884173, PMID:27894351, PMID:28356211, PMID:28492532, PMID:28887310, PMID:29529603, PMID:30333007, PMID:30820006, PMID:30883612 RGD:7175273, RGD:7175279 NCBI chrNW_004955474:1,831,221...1,868,170
Ensembl chrNW_004955474:1,833,701...1,868,817
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant
ClinVar PMID:11898128, PMID:11919560, PMID:12506140, PMID:12846734, PMID:12874454, PMID:15108277, PMID:15108281, PMID:15696446, PMID:15805161, PMID:16133180, PMID:16199545, PMID:16523049, PMID:19914852, PMID:19940839, PMID:19940939, PMID:20413436, PMID:21274727, PMID:25124979, PMID:25701400, PMID:25741868, PMID:26695994, PMID:27225849, PMID:28375157, PMID:28492532, PMID:29956005, PMID:30311386 NCBI chrNW_004955411:5,988,100...6,434,369
Ensembl chrNW_004955411:5,990,316...6,432,301
JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:20210794 NCBI chrNW_004955429:14,814,690...14,936,869
Ensembl chrNW_004955429:14,873,908...14,937,387
JBrowse link
G Ppm1k protein phosphatase, Mg2+/Mn2+ dependent 1K ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955474:12,229,658...12,250,783
Ensembl chrNW_004955474:12,229,090...12,253,542
JBrowse link
G Pyurf PIGY upstream reading frame ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955474:11,944,579...11,945,906 JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955442:15,114,333...15,119,481
Ensembl chrNW_004955442:15,114,333...15,120,123
JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 ISO protein:increased expression, increased activity:kidney RGD PMID:16221708 RGD:1643017 NCBI chrNW_004955451:3,181,085...3,225,610 JBrowse link
G Serping1 serpin family G member 1 disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chrNW_004955511:2,545,337...2,557,850
Ensembl chrNW_004955511:2,545,285...2,557,982
JBrowse link
G Slc34a1 solute carrier family 34 member 1 disease_progression ISO mRNA, protein:altered expression:renal cortex (rat) RGD PMID:11004225 RGD:7242933 NCBI chrNW_004955408:29,626,775...29,640,811
Ensembl chrNW_004955408:29,626,775...29,640,875
JBrowse link
G Snca synuclein alpha ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955405:854,011...962,741
Ensembl chrNW_004955405:853,946...965,403
JBrowse link
G Sparcl1 SPARC like 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955474:2,352,662...2,387,237
Ensembl chrNW_004955474:2,370,237...2,391,285
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant RGD
ClinVar
PMID:20926632, PMID:25741868 RGD:5131995 NCBI chrNW_004955474:1,914,477...1,922,025
Ensembl chrNW_004955474:1,913,829...1,922,016
JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO protein:increased expression:kidney, epithelial cell RGD PMID:16399078 RGD:7243978 NCBI chrNW_004955458:4,833,417...4,847,956
Ensembl chrNW_004955458:4,833,515...4,843,273
JBrowse link
G Tigd2 tigger transposable element derived 2 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955405:80,872...84,184
Ensembl chrNW_004955405:80,872...84,184
JBrowse link
G Traf7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955442:15,092,955...15,112,842
Ensembl chrNW_004955442:15,092,955...15,112,840
JBrowse link
autosomal dominant pseudohypoaldosteronism type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cul3 cullin 3 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant
ClinVar Annotator: match by term: Pseudohypoaldosteronism type 1 autosomal dominant
ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004955453:9,546,554...9,629,976
Ensembl chrNW_004955453:9,564,522...9,629,976
JBrowse link
G Klhl3 kelch like family member 3 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chrNW_004955408:32,596,497...32,719,967
Ensembl chrNW_004955408:32,596,497...32,721,059
JBrowse link
G Nr3c2 nuclear receptor subfamily 3 group C member 2 ISO OMIM NCBI chrNW_004955471:3,059,210...3,397,894
Ensembl chrNW_004955471:3,061,735...3,395,520
JBrowse link
G Stx16 syntaxin 16 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar NCBI chrNW_004955445:884,372...910,010 JBrowse link
autosomal dominant Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO OMIM NCBI chrNW_004955514:3,902,508...3,924,281
Ensembl chrNW_004955514:3,902,454...3,924,610
JBrowse link
autosomal recessive Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a3 collagen type IV alpha 3 chain ISO OMIM NCBI chrNW_004955453:7,261,278...7,351,414 JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO OMIM NCBI chrNW_004955453:7,405,167...7,524,038
Ensembl chrNW_004955453:7,420,203...7,520,200
JBrowse link
autosomal recessive cutis laxa type IC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp4 latent transforming growth factor beta binding protein 4 ISO OMIM NCBI chrNW_004955578:685,960...712,809
Ensembl chrNW_004955578:686,211...712,794
JBrowse link
autosomal recessive hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive ClinVar NCBI chrNW_004955474:2,188,090...2,200,284 JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive ClinVar PMID:24033266, PMID:28492532 NCBI chrNW_004955436:12,416,147...12,477,214
Ensembl chrNW_004955436:12,415,737...12,480,359
JBrowse link
autosomal recessive osteopetrosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ca2 carbonic anhydrase 2 ISO OMIM NCBI chrNW_004955417:3,388,110...3,402,798
Ensembl chrNW_004955417:3,386,087...3,402,363
JBrowse link
autosomal recessive polycystic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 ISO protein:increased serine phosphorylation:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chrNW_004955538:3,208,711...3,224,386
Ensembl chrNW_004955538:3,208,710...3,229,904
JBrowse link
G Aqp1 aquaporin 1 (Colton blood group) ISO CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression, altered location:bile duct, epithelial cell
CTD
RGD
PMID:18988797 RGD:2307071 NCBI chrNW_004955410:32,066,196...32,078,661 JBrowse link
G C3 complement C3 ISO mRNA, protein:increased expression, increased activity:kidney RGD PMID:17960140 RGD:7175542 NCBI chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697
JBrowse link
G Cd14 CD14 molecule severity ISO RGD PMID:20555320 RGD:7204130 NCBI chrNW_004955418:73,736...75,345
Ensembl chrNW_004955418:73,897...75,224
JBrowse link
G Cdc25a cell division cycle 25A treatment ISO protein:increased expression:cholangiocyte: RGD PMID:22155366 RGD:14700990 NCBI chrNW_004955420:24,345,002...24,361,802
Ensembl chrNW_004955420:24,344,388...24,362,596
JBrowse link
G Cftr CF transmembrane conductance regulator ISO mRNA, protein:increased expression:bile duct epithelium
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18988797 RGD:2307071 NCBI chrNW_004955432:23,179,645...23,328,347
Ensembl chrNW_004955432:23,178,866...23,328,382
JBrowse link
G Cys1 cystin 1 ISO RGD PMID:11854326 RGD:7175541 NCBI chrNW_004955487:5,455,820...5,461,362 JBrowse link
G Dzip1l DAZ interacting zinc finger protein 1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:28530676 NCBI chrNW_004955501:895,245...965,626
Ensembl chrNW_004955501:897,692...965,626
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9486961 NCBI chrNW_004955456:321,222...456,431 JBrowse link
G Eln elastin ISO RGD PMID:21478483 RGD:7207865 NCBI chrNW_004955456:13,788,992...13,818,836 JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chrNW_004955453:15,109,711...15,112,438
Ensembl chrNW_004955453:15,109,711...15,112,438
JBrowse link
G Ift88 intraflagellar transport 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8191288, PMID:8608416 NCBI chrNW_004955497:1,338,959...1,454,788
Ensembl chrNW_004955497:1,338,904...1,455,122
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO protein:increased serine phosphorylation:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chrNW_004955486:2,487,642...2,599,694
Ensembl chrNW_004955486:2,487,642...2,599,694
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:kidney (mouse) RGD PMID:3479800 RGD:7207453 NCBI chrNW_004955461:2,714,022...2,718,872
Ensembl chrNW_004955461:2,714,022...2,718,982
JBrowse link
G Nphp3 nephrocystin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12089381 NCBI chrNW_004955501:5,799,879...5,837,022 JBrowse link
G Panx1 pannexin 1 ISO RGD PMID:31630543 RGD:14995937 NCBI chrNW_004955414:405,483...448,470
Ensembl chrNW_004955414:401,188...448,470
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO protein:increased expression:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chrNW_004955420:8,355,415...8,427,024
Ensembl chrNW_004955420:8,356,353...8,427,024
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease ClinVar PMID:10729710, PMID:11115377, PMID:11967008, PMID:17574468, PMID:17582161, PMID:19515475, PMID:21551026, PMID:22031115, PMID:22508176, PMID:24374109, PMID:25333066, PMID:25741868, PMID:26453610, PMID:26467025, PMID:26632257, PMID:29100090 NCBI chrNW_004955442:15,132,555...15,178,377
Ensembl chrNW_004955442:15,145,640...15,178,377
JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease ClinVar PMID:12707387, PMID:25741868, PMID:28492532, PMID:29529603, PMID:30333007 NCBI chrNW_004955474:1,831,221...1,868,170
Ensembl chrNW_004955474:1,833,701...1,868,817
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin severity
susceptibility
ISO protein:decreased expression:kidney
ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease
ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I
ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT HEPATIC DISEASE
DNA:missense mutations:cds:
DNA:deletion:exon:
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutations: :multiple
DNA:splice site mutation:intron:IVS35-2A>T
RGD
ClinVar
CTD
PMID:1189128, PMID:11898128, PMID:11919560, PMID:12506140, PMID:12846734, PMID:12874454, PMID:12925574, PMID:14741187, PMID:14971004, PMID:14983006, PMID:15108277, PMID:15108281, PMID:15696446, PMID:15698423, PMID:15706593, PMID:15805161, PMID:16133180, PMID:16199545, PMID:16523049, PMID:16632497, PMID:16876319, PMID:17519956, PMID:18414213, PMID:18503009, PMID:18988797, PMID:19021639, PMID:19176689, PMID:19524688, PMID:19914852, PMID:19940839, PMID:19940939, PMID:20413436, PMID:20460933, PMID:20575693, PMID:21046169, PMID:21228398, PMID:21274727, PMID:21493627, PMID:21685914, PMID:21790888, PMID:21896375, PMID:21945273, PMID:22034641, PMID:22995991, PMID:23041322, PMID:23265383, PMID:23389334, PMID:23582048, PMID:23757202, PMID:24033266, PMID:24121792, PMID:24162162, PMID:24336431, PMID:24710345, PMID:24984783, PMID:25114813, PMID:25124979, PMID:25153916, PMID:25193386, PMID:25326637, PMID:25525159, PMID:25646624, PMID:25701400, PMID:25741868, PMID:25771912, PMID:25966130, PMID:26139440, PMID:26385851, PMID:26489027, PMID:26489029, PMID:26633542, PMID:26673778, PMID:26695994, PMID:26721323, PMID:27151922, PMID:27225849, PMID:27491411, PMID:27577217, PMID:27595491, PMID:27752906, PMID:27894351, PMID:28170084, PMID:28375157, PMID:28492532, PMID:28518170, PMID:28555180, PMID:28578020, PMID:28851938, PMID:28862642, PMID:29520754, PMID:29643536, PMID:29801666, PMID:29956005, PMID:30311386, PMID:30507656, PMID:30510609, PMID:30566001, PMID:30650191, PMID:31395954, PMID:32576985 RGD:11062506, RGD:14700917, RGD:1642441, RGD:70439 NCBI chrNW_004955411:5,988,100...6,434,369
Ensembl chrNW_004955411:5,990,316...6,432,301
JBrowse link
G Slc4a2 solute carrier family 4 member 2 ISO CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression, altered localization:cholangiocyte, basolateral plasma membrane
CTD
RGD
PMID:18988797 RGD:2307071 NCBI chrNW_004955491:5,498,472...5,513,389
Ensembl chrNW_004955491:5,499,033...5,517,319
JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18385429 NCBI chrNW_004955445:19,213,210...19,227,670
Ensembl chrNW_004955445:19,215,161...19,228,695
JBrowse link
G Tmem67 transmembrane protein 67 ISO RGD PMID:30705305 RGD:14995942 NCBI chrNW_004955417:10,097,488...10,137,959
Ensembl chrNW_004955417:10,097,472...10,138,644
JBrowse link
autosomal recessive pseudohypoaldosteronism type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive
ClinVar Annotator: match by term: Pseudohypoaldosteronism type 1 autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1
ClinVar PMID:25741868 NCBI chrNW_004955413:4,031,659...4,038,396
Ensembl chrNW_004955413:4,031,754...4,038,992
JBrowse link
G Scnn1a sodium channel epithelial 1 alpha subunit ISO OMIM NCBI chrNW_004955413:4,000,083...4,023,596
Ensembl chrNW_004955413:3,999,613...4,023,596
JBrowse link
G Scnn1b sodium channel epithelial 1 beta subunit ISO OMIM NCBI chrNW_004955493:1,937,507...1,956,248
Ensembl chrNW_004955493:1,904,220...1,956,303
JBrowse link
G Scnn1g sodium channel epithelial 1 gamma subunit ISO OMIM NCBI chrNW_004955493:1,787,693...1,813,085
Ensembl chrNW_004955493:1,784,885...1,813,205
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive ClinVar NCBI chrNW_004955413:3,982,670...3,996,320
Ensembl chrNW_004955413:3,981,400...3,996,021
JBrowse link
Azotemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6338847 NCBI chrNW_004955406:40,016,624...40,026,286
Ensembl chrNW_004955406:40,016,630...40,026,286
JBrowse link
Balkan nephropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22071594 NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
JBrowse link
Bartter disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bsnd barttin CLCNK type accessory beta subunit ISO Bartter syndrome with sensorineural deafness, OMIM:602522, DNA:point mutation:A1T, R8W, DNA:deletion:exon
ClinVar Annotator: match by term: Bartter's syndrome
RGD
ClinVar
PMID:11687798 RGD:1600603 NCBI chrNW_004955464:4,459,686...4,468,749
Ensembl chrNW_004955464:4,459,628...4,468,927
JBrowse link
G Kcnj1 potassium inwardly rectifying channel subfamily J member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Antenatal Bartter Syndrome
CTD
ClinVar
PMID:10561751, PMID:12911542, PMID:16982955, PMID:22275899, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chrNW_004955412:29,801,022...29,832,153
Ensembl chrNW_004955412:29,801,022...29,829,674
JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:929154, PMID:3519017, PMID:15976003 NCBI chrNW_004955406:40,016,624...40,026,286
Ensembl chrNW_004955406:40,016,630...40,026,286
JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO CTD Direct Evidence: marker/mechanism
antenatal Bartter syndrome type 1,OMIM:601678;DNA:point mutation:exon:D648N, V272F
CTD
RGD
PMID:8640224, PMID:10561751 RGD:1624188 NCBI chrNW_004955409:5,597,033...5,680,009
Ensembl chrNW_004955409:5,597,033...5,680,009
JBrowse link
Bartter disease type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc12a1 solute carrier family 12 member 1 ISO OMIM NCBI chrNW_004955409:5,597,033...5,680,009
Ensembl chrNW_004955409:5,597,033...5,680,009
JBrowse link
Bartter disease type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj1 potassium inwardly rectifying channel subfamily J member 1 ISO OMIM NCBI chrNW_004955412:29,801,022...29,832,153
Ensembl chrNW_004955412:29,801,022...29,829,674
JBrowse link
Bartter disease type 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bsnd barttin CLCNK type accessory beta subunit ISO OMIM NCBI chrNW_004955464:4,459,686...4,468,749
Ensembl chrNW_004955464:4,459,628...4,468,927
JBrowse link
Bartter disease type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maged2 MAGE family member D2 ISO OMIM NCBI chrNW_004955475:2,038,189...2,046,240
Ensembl chrNW_004955475:2,038,189...2,046,290
JBrowse link
benign familial hematuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a3 collagen type IV alpha 3 chain ISO OMIM NCBI chrNW_004955453:7,261,278...7,351,414 JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO OMIM NCBI chrNW_004955453:7,405,167...7,524,038
Ensembl chrNW_004955453:7,420,203...7,520,200
JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Familial hematuria ClinVar NCBI chrNW_004955490:7,168,725...7,409,655
Ensembl chrNW_004955490:7,168,676...7,409,887
JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Familial hematuria ClinVar NCBI chrNW_004955528:1,713,110...1,753,374
Ensembl chrNW_004955528:1,713,125...1,753,116
JBrowse link
Bifid Nose with or without Anorectal And Renal Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frem1 FRAS1 related extracellular matrix 1 ISO OMIM NCBI chrNW_004955434:17,754,002...17,901,416
Ensembl chrNW_004955434:17,753,925...17,901,407
JBrowse link
bladder calculus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22232670 NCBI chrNW_004955410:20,428,531...20,459,482 JBrowse link
bladder carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Bladder carcinoma ClinVar PMID:7773297, PMID:8589699, PMID:8845844, PMID:9438390, PMID:9843049, PMID:10471491, PMID:11038465, PMID:11055896, PMID:11314002, PMID:11429702, PMID:11879084, PMID:12009017, PMID:15772091, PMID:15880580, PMID:16841094, PMID:16912704, PMID:17384684, PMID:18000903, PMID:19088846, PMID:19331127, PMID:19381019, PMID:19749790, PMID:20453470, PMID:20542753, PMID:21273588, PMID:21510009, PMID:22869148, PMID:23200862, PMID:24476948, PMID:25157968, PMID:25606676, PMID:25741868, PMID:26619011, PMID:28249712, PMID:28492532, PMID:30311386 NCBI chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Bladder carcinoma ClinVar PMID:16443854, PMID:18039947, PMID:19382114, PMID:21850009, PMID:22499344, PMID:22683711, PMID:22926243, PMID:24033266, PMID:25157968, PMID:25741868, PMID:26619011 NCBI chrNW_004955476:11,508,446...11,510,333
Ensembl chrNW_004955476:11,508,126...11,510,333
JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Bladder carcinoma ClinVar PMID:16443854, PMID:18039947, PMID:19382114, PMID:21850009, PMID:22499344, PMID:22683711, PMID:22926243, PMID:24033266, PMID:25157968, PMID:25741868, PMID:26619011 NCBI chrNW_004955476:11,493,299...11,507,022
Ensembl chrNW_004955476:11,491,688...11,506,700
JBrowse link
bladder disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrm3 cholinergic receptor muscarinic 3 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:17922784, PMID:22077972 RGD:5133442 NCBI chrNW_004955492:958,347...1,429,832
Ensembl chrNW_004955492:958,949...960,721
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:urinary bladder RGD PMID:17763394 RGD:2315846 NCBI chrNW_004955428:17,840,554...17,894,779 JBrowse link
G Ins insulin ISO CTD Direct Evidence: therapeutic CTD PMID:2055425 NCBI chrNW_004955422:13,909,408...13,910,419
Ensembl chrNW_004955422:13,909,407...13,910,419
JBrowse link
G Ngf nerve growth factor ISO associated with Diabetes Mellitus, Experimental RGD PMID:15448108 RGD:7242800 NCBI chrNW_004955435:18,581,889...18,633,330
Ensembl chrNW_004955435:18,581,808...18,601,059
JBrowse link
G Rassf1 Ras association domain family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23527093 NCBI chrNW_004955532:2,132,892...2,142,106
Ensembl chrNW_004955532:2,132,822...2,142,106
JBrowse link
G Rgs2 regulator of G protein signaling 2 treatment ISO associated with hypertension RGD PMID:19689474 RGD:9684972 NCBI chrNW_004955406:30,261,757...30,265,389
Ensembl chrNW_004955406:30,261,757...30,266,005
JBrowse link
G Rgs3 regulator of G protein signaling 3 treatment ISO associated with hypertension RGD PMID:19689474 RGD:9684972 NCBI chrNW_004955419:13,918,274...14,042,090
Ensembl chrNW_004955419:13,919,051...14,056,521
JBrowse link
G Rgs4 regulator of G protein signaling 4 treatment ISO associated with hypertension RGD PMID:19689474 RGD:9684972 NCBI chrNW_004955462:13,340,812...13,347,598
Ensembl chrNW_004955462:13,338,960...13,347,610
JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO associated with Spinal Cord Injuries;protein:decreased expression:axon terminus RGD PMID:17229408 RGD:5686699 NCBI chrNW_004955556:696,779...698,869
Ensembl chrNW_004955556:696,974...698,566
JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23527093 NCBI chrNW_004955405:41,613,976...41,655,813
Ensembl chrNW_004955405:41,613,966...41,655,813
JBrowse link
G Vip vasoactive intestinal peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:18299998 NCBI chrNW_004955439:9,021,923...9,031,783
Ensembl chrNW_004955439:9,021,904...9,031,792
JBrowse link
bladder diverticulum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Diverticulum of bladder ClinVar PMID:25741868 NCBI chrNW_004955424:27,181,717...27,240,067
Ensembl chrNW_004955424:27,181,099...27,240,446
JBrowse link
BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna3 cholinergic receptor nicotinic alpha 3 subunit ISO OMIM NCBI chrNW_004955450:979,630...1,011,316
Ensembl chrNW_004955450:977,075...1,011,372
JBrowse link
bladder exstrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lztr1 leucine zipper like transcription regulator 1 ISO ClinVar Annotator: match by term: Bladder exstrophy ClinVar NCBI chrNW_004955442:19,315,427...19,333,361
Ensembl chrNW_004955442:19,315,427...19,333,522
JBrowse link
bladder exstrophy-epispadias-cloacal exstrophy complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fzd5 frizzled class receptor 5 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chrNW_004955457:7,282,403...7,288,918
Ensembl chrNW_004955457:7,282,403...7,288,918
JBrowse link
G Isl1 ISL LIM homeobox 1 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chrNW_004955446:15,824,956...15,835,000
Ensembl chrNW_004955446:15,824,035...15,835,046
JBrowse link
G Lrp10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chrNW_004955409:37,413,471...37,419,485
Ensembl chrNW_004955409:37,412,778...37,419,734
JBrowse link
G Tp63 tumor protein p63 ISO DNA:deletion, insertion, SNPs: :multiple RGD PMID:23284286 RGD:11568641 NCBI chrNW_004955420:18,178,639...18,384,786
Ensembl chrNW_004955420:18,176,155...18,384,786
JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: BLADDER EXSTROPHY AND EPISPADIAS COMPLEX ClinVar PMID:22581971, PMID:23401279, PMID:24398796, PMID:28492532, PMID:30426266 NCBI chrNW_004955453:14,528,373...14,540,801
Ensembl chrNW_004955453:14,528,153...14,540,818
JBrowse link
G Wnt11 Wnt family member 11 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chrNW_004955414:15,674,478...15,694,758
Ensembl chrNW_004955414:15,674,940...15,694,883
JBrowse link
G Wnt6 Wnt family member 6 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chrNW_004955453:14,547,427...14,560,001
Ensembl chrNW_004955453:14,545,700...14,560,976
JBrowse link
G Wnt7a Wnt family member 7A ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chrNW_004955429:12,647,993...12,693,998
Ensembl chrNW_004955429:12,647,993...12,694,895
JBrowse link
bladder neck obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adra1a adrenoceptor alpha 1A ISO RGD PMID:20886573 RGD:5688368 NCBI chrNW_004955403:49,394,173...49,485,881
Ensembl chrNW_004955403:49,399,127...49,485,934
JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment ISO RGD PMID:23313213 RGD:7257549 NCBI chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073
JBrowse link
G Col3a1 collagen type III alpha 1 chain treatment ISO RGD PMID:23313213 RGD:7257549 NCBI chrNW_004955403:9,720,831...9,758,019
Ensembl chrNW_004955403:9,721,114...9,757,887
JBrowse link
G Eln elastin treatment ISO RGD PMID:23313213 RGD:7257549 NCBI chrNW_004955456:13,788,992...13,818,836 JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:urinary bladder (rat) RGD PMID:12118092 RGD:9068887 NCBI chrNW_004955466:8,000,311...8,022,497
Ensembl chrNW_004955466:8,000,044...8,022,497
JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A ISO mRNA:increased expression:urinary bladder RGD PMID:23344575 RGD:7257660 NCBI chrNW_004955431:583,165...646,991
Ensembl chrNW_004955431:580,713...647,345
JBrowse link
G LOC102023780 aromatase ISO RGD PMID:21356374 RGD:7257709 NCBI chrNW_004955409:3,198,622...3,313,072
Ensembl chrNW_004955409:3,266,233...3,313,142
JBrowse link
G Mmp7 matrix metallopeptidase 7 treatment ISO RGD PMID:23313213 RGD:7257549 NCBI chrNW_004955412:5,780,772...5,792,485
Ensembl chrNW_004955412:5,778,502...5,792,445
JBrowse link
G Ngf nerve growth factor treatment ISO RGD PMID:22795377 RGD:7242774 NCBI chrNW_004955435:18,581,889...18,633,330
Ensembl chrNW_004955435:18,581,808...18,601,059
JBrowse link
G Nos3 nitric oxide synthase 3 ISO mRNA:decreased expression:urinary bladder RGD PMID:21256554 RGD:4891960 NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
JBrowse link
G Optn optineurin ISO protein:increased expression:urinary bladder: RGD PMID:16361812 RGD:7775024 NCBI chrNW_004955462:1,098,118...1,150,291
Ensembl chrNW_004955462:1,107,510...1,151,269
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15311063 NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171
JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:21060756 RGD:7175518 NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
JBrowse link
bladder urothelial carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actl7a actin like 7A ISO RGD PMID:29058301 RGD:13831338 NCBI chrNW_004955419:18,102,980...18,106,405
Ensembl chrNW_004955419:18,102,980...18,106,405
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma ClinVar PMID:17611497, PMID:18256540, PMID:18392055, PMID:18504432, PMID:18611285, PMID:19418217, PMID:19487299, PMID:19853286, PMID:20233444, PMID:20453058, PMID:21464312, PMID:21512767, PMID:21793738, PMID:22538770, PMID:22610119, PMID:22722201, PMID:22722839, PMID:22980975, PMID:23237847, PMID:23348505, PMID:23700467, PMID:23728071, PMID:23934607, PMID:24190505, PMID:24657128, PMID:25157968, PMID:26619011, PMID:28492532 NCBI chrNW_004955538:3,208,711...3,224,386
Ensembl chrNW_004955538:3,208,710...3,229,904
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma ClinVar PMID:12068308, PMID:12460918, PMID:12460919, PMID:12960123, PMID:14612909, PMID:14679157, PMID:14688025, PMID:15035987, PMID:16439621, PMID:16474404, PMID:17096326, PMID:17119447, PMID:17311103, PMID:17603483, PMID:18039235, PMID:18042262, PMID:18186519, PMID:18368129, PMID:18413255, PMID:18794803, PMID:19010912, PMID:19206169, PMID:19238210, PMID:19376813, PMID:19383316, PMID:19537845, PMID:19913317, PMID:20350999, PMID:20619739, PMID:21129611, PMID:21483012, PMID:21784453, PMID:22180495, PMID:22310681, PMID:22649091, PMID:22773810, PMID:23273605, PMID:23352452, PMID:23833300, PMID:24033266, PMID:25157968, PMID:25463315, PMID:25741868, PMID:26619011, PMID:28492532, PMID:29595366, PMID:30311386 NCBI chrNW_004955494:2,567,238...2,712,708 JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma ClinVar PMID:21390126, PMID:21680795, PMID:21796119, PMID:22832583, PMID:23334668, PMID:23685749, PMID:23778141, PMID:26087898, PMID:26619011, PMID:27257180, PMID:28492532, PMID:29551561 NCBI chrNW_004955442:13,559,496...13,691,913
Ensembl chrNW_004955442:13,559,496...13,692,004
JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma ClinVar PMID:9065402, PMID:9065403, PMID:9294210, PMID:10027390, PMID:10192393, PMID:10391090, PMID:10435629, PMID:10666372, PMID:11351304, PMID:11930117, PMID:11950921, PMID:12124804, PMID:15133491, PMID:24788118, PMID:25157968, PMID:26619011, PMID:26822237 NCBI chrNW_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma ClinVar PMID:16397024, PMID:18413839, PMID:22046346, PMID:22908275, PMID:23220880, PMID:25157968, PMID:26619011 NCBI chrNW_004955451:14,442,816...14,456,009
Ensembl chrNW_004955451:14,442,816...14,459,379
JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma ClinVar PMID:26619011 NCBI chrNW_004955458:3,683,126...3,701,752
Ensembl chrNW_004955458:3,683,126...3,702,978
JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma ClinVar PMID:25741868, PMID:26619011 NCBI chrNW_004955471:6,852,459...7,026,590
Ensembl chrNW_004955471:6,848,101...6,955,881
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 severity ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma
protein:increased expression:urothelial cells (human)
ClinVar
RGD
PMID:1908846, PMID:7773297, PMID:8589699, PMID:8845844, PMID:8858131, PMID:9438390, PMID:9677066, PMID:9843049, PMID:10073901, PMID:10471491, PMID:10696568, PMID:11038465, PMID:11241532, PMID:11429702, PMID:11529856, PMID:11879084, PMID:12833394, PMID:15772091, PMID:16841094, PMID:17384684, PMID:18642369, PMID:19088846, PMID:19331127, PMID:19381019, PMID:19749790, PMID:20542753, PMID:21273588, PMID:22869148, PMID:23200862, PMID:24476948, PMID:25157968, PMID:25606676, PMID:25741868, PMID:26619011, PMID:28249712, PMID:28492532, PMID:28507621, PMID:30311386 RGD:38500205 NCBI chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma ClinVar PMID:1904555, PMID:3510078, PMID:11150980, PMID:12210337, PMID:12835555, PMID:14608654, PMID:16155195, PMID:16170316, PMID:16329078, PMID:16372351, PMID:16443854, PMID:16835863, PMID:16881968, PMID:16969868, PMID:17054105, PMID:17211612, PMID:17250658, PMID:17384584, PMID:17412879, PMID:17979197, PMID:18039947, PMID:18042262, PMID:18247425, PMID:18470943, PMID:18978862, PMID:19206176, PMID:19213030, PMID:19255327, PMID:19371735, PMID:19382114, PMID:19669404, PMID:19773371, PMID:20660566, PMID:20859122, PMID:20979192, PMID:21438134, PMID:21495179, PMID:21834037, PMID:21850009, PMID:22087699, PMID:22256804, PMID:22317973, PMID:22499344, PMID:22683711, PMID:22726224, PMID:22926243, PMID:23093928, PMID:23096712, PMID:23406027, PMID:23429430, PMID:23751039, PMID:23884457, PMID:24006476, PMID:24033266, PMID:24129065, PMID:24169525, PMID:24224811, PMID:24390138, PMID:25157968, PMID:25326635, PMID:25695684, PMID:25741868, PMID:25914166, PMID:26619011, PMID:27195699, PMID:27589201, PMID:28027064, PMID:28139825, PMID:28390077, PMID:28492532, PMID:29073591, PMID:29493581, PMID:31775759, PMID:168335863 NCBI chrNW_004955476:11,508,446...11,510,333
Ensembl chrNW_004955476:11,508,126...11,510,333
JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma ClinVar PMID:18772396, PMID:19657110, PMID:19798509, PMID:19818334, PMID:20946881, PMID:21352804, PMID:21446021, PMID:22160010, PMID:22397365, PMID:22417203, PMID:22898539, PMID:23558169, PMID:24606448, PMID:25043048, PMID:25157968, PMID:25741868, PMID:26619011 NCBI chrNW_004955457:6,851,542...6,869,452
Ensembl chrNW_004955457:6,851,517...6,872,367
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma ClinVar PMID:2278970, PMID:3122217, PMID:12460918, PMID:15696205, PMID:16361624, PMID:16434492, PMID:16618717, PMID:18316791, PMID:18794081, PMID:19075190, PMID:19114683, PMID:19679400, PMID:20921462, PMID:20921465, PMID:21228335, PMID:22407852, PMID:22722830, PMID:23325582, PMID:25157968, PMID:26619011 NCBI chrNW_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758
JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma ClinVar PMID:1904555, PMID:3510078, PMID:11150980, PMID:12210337, PMID:12835555, PMID:14608654, PMID:16155195, PMID:16170316, PMID:16329078, PMID:16372351, PMID:16443854, PMID:16835863, PMID:16881968, PMID:16969868, PMID:17054105, PMID:17211612, PMID:17250658, PMID:17384584, PMID:17412879, PMID:17979197, PMID:18039947, PMID:18042262, PMID:18247425, PMID:18470943, PMID:18978862, PMID:19206176, PMID:19213030, PMID:19255327, PMID:19371735, PMID:19382114, PMID:19669404, PMID:19773371, PMID:20660566, PMID:20859122, PMID:20979192, PMID:21438134, PMID:21495179, PMID:21834037, PMID:21850009, PMID:22087699, PMID:22256804, PMID:22317973, PMID:22499344, PMID:22683711, PMID:22726224, PMID:22926243, PMID:23093928, PMID:23096712, PMID:23406027, PMID:23429430, PMID:23751039, PMID:23884457, PMID:24006476, PMID:24033266, PMID:24129065, PMID:24169525, PMID:24224811, PMID:24390138, PMID:25157968, PMID:25326635, PMID:25695684, PMID:25741868, PMID:25914166, PMID:26619011, PMID:27195699, PMID:27589201, PMID:28027064, PMID:28139825, PMID:28390077, PMID:28492532, PMID:29073591, PMID:29493581, PMID:31775759, PMID:168335863 NCBI chrNW_004955476:11,493,299...11,507,022
Ensembl chrNW_004955476:11,491,688...11,506,700
JBrowse link
G Map2k1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma ClinVar PMID:17366577, PMID:17551924, PMID:19915144, PMID:21107320, PMID:22197931, PMID:22588879, PMID:23569304, PMID:24033266, PMID:24803665, PMID:25157968, PMID:26619011, PMID:28049852 NCBI chrNW_004955450:9,181,851...9,205,277
Ensembl chrNW_004955450:9,181,851...9,239,648
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma ClinVar PMID:1654209, PMID:2278970, PMID:2407301, PMID:2674680, PMID:2989702, PMID:3102434, PMID:3122217, PMID:6587382, PMID:8120410, PMID:10821536, PMID:12460918, PMID:12727991, PMID:14508525, PMID:15899789, PMID:16273091, PMID:16291983, PMID:16434492, PMID:17332249, PMID:17517660, PMID:17699718, PMID:18375819, PMID:18390968, PMID:18633438, PMID:18668139, PMID:18948947, PMID:19075190, PMID:19657110, PMID:19775298, PMID:19880792, PMID:20130576, PMID:20149136, PMID:20179705, PMID:20406486, PMID:20619739, PMID:20736745, PMID:21079152, PMID:21107323, PMID:21305640, PMID:21576590, PMID:21729679, PMID:21829508, PMID:22407852, PMID:22499344, PMID:22718121, PMID:22761467, PMID:22773810, PMID:22962325, PMID:23076151, PMID:23392294, PMID:23400451, PMID:23414587, PMID:23431193, PMID:23515407, PMID:23538902, PMID:23569304, PMID:23614898, PMID:24006476, PMID:24033266, PMID:24148783, PMID:24370118, PMID:24671188, PMID:25157968, PMID:25348872, PMID:25695684, PMID:26619011, PMID:26821351, PMID:27050078, PMID:28492532, PMID:28780248 NCBI chrNW_004955435:18,001,517...18,009,105
Ensembl chrNW_004955435:18,001,517...18,009,103
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma ClinVar PMID:15016963, PMID:15254419, PMID:15520168, PMID:15608678, PMID:15647370, PMID:15805248, PMID:15930273, PMID:16353168, PMID:16847462, PMID:16906227, PMID:16930767, PMID:17376864, PMID:17673550, PMID:18371219, PMID:18676830, PMID:18725974, PMID:19029981, PMID:19223544, PMID:19366826, PMID:19513541, PMID:19671852, PMID:19903786, PMID:20177704, PMID:20453058, PMID:20619739, PMID:21430269, PMID:21558396, PMID:21824802, PMID:22120714, PMID:22162582, PMID:22162589, PMID:22228622, PMID:22271473, PMID:22357840, PMID:22658544, PMID:22729222, PMID:22729223, PMID:22729224, PMID:22949682, PMID:23066039, PMID:23100325, PMID:23246288, PMID:23408298, PMID:23754335, PMID:23888070, PMID:24033266, PMID:24265155, PMID:24497998, PMID:24559322, PMID:24782230, PMID:25157968, PMID:25557259, PMID:25741868, PMID:26266975, PMID:26266985, PMID:26301495, PMID:26593112, PMID:26619011, PMID:26822237, PMID:26851524, PMID:27426476, PMID:27626068, PMID:27631024, PMID:27870750, PMID:28492532, PMID:28941273, PMID:29446767, PMID:31775759 NCBI chrNW_004955420:8,355,415...8,427,024
Ensembl chrNW_004955420:8,356,353...8,427,024
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma ClinVar PMID:26619011, PMID:27535533, PMID:28492532, PMID:29706350 NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma ClinVar PMID:1349175, PMID:1359493, PMID:1565143, PMID:1565144, PMID:1569604, PMID:1591732, PMID:1631137, PMID:1631151, PMID:1644930, PMID:1673792, PMID:1679237, PMID:1683921, PMID:1686725, PMID:1737852, PMID:1918170, PMID:1978757, PMID:2046748, PMID:2259385, PMID:2531845, PMID:2554494, PMID:2826609, PMID:7565304, PMID:7651740, PMID:7707106, PMID:7732013, PMID:7750099, PMID:7783166, PMID:7791795, PMID:7881428, PMID:7887414, PMID:8023157, PMID:8062826, PMID:8080050, PMID:8099841, PMID:8118819, PMID:8164043, PMID:8242631, PMID:8336941, PMID:8364550, PMID:8401536, PMID:8423216, PMID:8425176, PMID:8479749, PMID:8527048, PMID:8550239, PMID:8633021, PMID:8718514, PMID:8825920, PMID:8829627, PMID:8869100, PMID:9020384, PMID:9096669, PMID:9157982, PMID:9218725, PMID:9242456, PMID:9268986, PMID:9290701, PMID:9364015, PMID:9407971, PMID:9525742, PMID:9546439, PMID:9569050, PMID:9572492, PMID:9598730, PMID:9627118, PMID:9632751, PMID:9635828, PMID:9662334, PMID:9667734, PMID:9825943, PMID:9839505, PMID:10064694, PMID:10229196, PMID:10411893, PMID:10432928, PMID:10519380, PMID:10567903, PMID:10589545, PMID:10713666, PMID:10761705, PMID:10797439, PMID:10864200, PMID:10871862, PMID:10914716, PMID:10922393, PMID:11051239, PMID:11051241, PMID:11139324, PMID:11180592, PMID:11370630, PMID:11429705, PMID:11479205, PMID:11593407, PMID:11782540, PMID:11793474, PMID:11896595, PMID:11920788, PMID:11920959, PMID:12007217, PMID:12034820, PMID:12076704, PMID:12124823, PMID:12406399, PMID:12509279, PMID:12672316, PMID:12695689, PMID:12726864, PMID:12826609, PMID:12885464, PMID:12901974, PMID:12909720, PMID:12917626, PMID:14559903, PMID:14584079, PMID:14673037, PMID:15004724, PMID:15017592, PMID:15037740, PMID:15381368, PMID:15390294, PMID:15580553, PMID:15607980, PMID:15607981, PMID:15722483, PMID:15825182, PMID:15850016, PMID:15925506, PMID:15951970, PMID:15977174, PMID:15982667, PMID:16288208, PMID:16312222, PMID:16337994, PMID:16401470, PMID:16489069, PMID:16494995, PMID:16508005, PMID:16551709, PMID:16682957, PMID:16736287, PMID:16818505, PMID:16827139, PMID:16861262, PMID:17015838, PMID:17311302, PMID:17390010, PMID:17401428, PMID:17417627, PMID:17427234, PMID:17540308, PMID:17541742, PMID:17567834, PMID:17572079, PMID:17606709, PMID:17636407, PMID:17724467, PMID:18208484, PMID:18307025, PMID:18453682, PMID:18511570, PMID:18555592, PMID:18628487, PMID:18685109, PMID:18989156, PMID:19012332, PMID:19101993, PMID:19147582, PMID:19171880, PMID:19336573, PMID:19367569, PMID:19378321, PMID:19468865, PMID:19556618, PMID:19681600, PMID:19834951, PMID:19850740, PMID:19913028, PMID:19930417, PMID:20013323, PMID:20028212, PMID:20113312, PMID:20127978, PMID:20128691, PMID:20234365, PMID:20308654, PMID:20407015, PMID:20505364, PMID:20506564, PMID:20516128, PMID:20522432, PMID:20693561, PMID:20805372, PMID:20878954, PMID:20972454, PMID:21056685, PMID:21059199, PMID:21115975, PMID:21159183, PMID:21187651, PMID:21232794, PMID:21305319, PMID:21319261, PMID:21343334, PMID:21356188, PMID:21470402, PMID:21483000, PMID:21484931, PMID:21514416, PMID:21519010, PMID:21535297, PMID:21552135, PMID:21601526, PMID:21626334, PMID:21674059, PMID:21747090, PMID:21761402, PMID:22006311, PMID:22052707, PMID:22090360, PMID:22109999, PMID:22110706, PMID:22114072, PMID:22186996, PMID:22198284, PMID:22233476, PMID:22265402, PMID:22672556, PMID:22710932, PMID:22713868, PMID:22768918, PMID:22811390, PMID:22844452, PMID:22847613, PMID:22866089, PMID:22887876, PMID:22899716, PMID:22915647, PMID:22919068, PMID:22923379, PMID:22983585, PMID:22999923, PMID:23031740, PMID:23161690, PMID:23165212, PMID:23172776, PMID:23175693, PMID:23246812, PMID:23259501, PMID:23263379, PMID:23265383, PMID:23315175, PMID:23334668, PMID:23355100, PMID:23406775, PMID:23538418, PMID:23625637, PMID:23630318, PMID:23667202, PMID:23792586, PMID:23894400, PMID:23950206, PMID:24033266, PMID:24038938, PMID:24122735, PMID:24381225, PMID:24384472, PMID:24395441, PMID:24487413, PMID:24501221, PMID:24573247, PMID:24590827, PMID:24603336, PMID:24641375, PMID:24651012, PMID:24651015, PMID:24677579, PMID:24702488, PMID:24728327, PMID:24766216, PMID:24810334, PMID:24835218, PMID:24940547, PMID:25119136, PMID:25157968, PMID:25293557, PMID:25294809, PMID:25339994, PMID:25503501, PMID:25504633, PMID:25525159, PMID:25584008, PMID:25584637, PMID:25587027, PMID:25619955, PMID:25634208, PMID:25691460, PMID:25741868, PMID:25787918, PMID:25896519, PMID:25925845, PMID:25927356, PMID:25945745, PMID:25952993, PMID:25980754, PMID:26014290, PMID:26024390, PMID:26205489, PMID:26225655, PMID:26230955, PMID:26270727, PMID:26425688, PMID:26467025, PMID:26497680, PMID:26554828, PMID:26556299, PMID:26585234, PMID:26619011, PMID:26659639, PMID:26681312, PMID:26781615, PMID:26786923, PMID:26787237, PMID:26822237, PMID:26845104, PMID:26878390, PMID:26911350, PMID:26976419, PMID:27022024, PMID:27077130, PMID:27179933, PMID:27189670, PMID:27276561, PMID:27276934, PMID:27374712, PMID:27463065, PMID:27489289, PMID:27493922, PMID:27523101, PMID:27533082, PMID:27616075, PMID:27621308, PMID:27622479, PMID:27680515, PMID:27683180, PMID:27724982, PMID:27895058, PMID:27959731, PMID:28135145, PMID:28152038, PMID:28279309, PMID:28369373, PMID:28453743, PMID:28472496, PMID:28476805, PMID:28492532, PMID:28724667, PMID:28802053, PMID:28861920, PMID:28915717, PMID:28975465, PMID:29025599, PMID:29070607, PMID:29126202, PMID:29324801, PMID:29416011, PMID:29470806, PMID:29478780, PMID:29489754, PMID:29752822, PMID:29753700, PMID:29979965, PMID:30076369, PMID:30087429, PMID:30128536, PMID:30216591, PMID:30224644, PMID:30297838, PMID:30311369, PMID:30327374, PMID:30352134, PMID:30450585, PMID:30630526, PMID:30720243, PMID:30840781, PMID:31775759 NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
JBrowse link
C1q Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qa complement C1q A chain ISO OMIM NCBI chrNW_004955452:2,753,362...2,756,220
Ensembl chrNW_004955452:2,752,970...2,756,488
JBrowse link
G C1qb complement C1q B chain ISO OMIM NCBI chrNW_004955452:2,765,844...2,771,695
Ensembl chrNW_004955452:2,769,752...2,772,534
JBrowse link
G C1qc complement C1q C chain ISO OMIM NCBI chrNW_004955452:2,759,079...2,762,522
Ensembl chrNW_004955452:2,758,821...2,762,522
JBrowse link
CAKUT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 susceptibility ISO DNA:SNPs: :rs2071047,rs17563(human) RGD PMID:24131739 RGD:13442498 NCBI chrNW_004955409:9,432,835...9,439,680
Ensembl chrNW_004955409:9,432,841...9,440,303
JBrowse link
G Bmp7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:27657687 NCBI chrNW_004955445:2,154,057...2,235,594
Ensembl chrNW_004955445:2,153,170...2,235,795
JBrowse link
G Cdc5l cell division cycle 5 like ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:27657687 NCBI chrNW_004955437:9,990,613...10,032,034
Ensembl chrNW_004955437:9,990,613...10,032,034
JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1 like ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:27657687 NCBI chrNW_004955568:1,132,594...1,189,176
Ensembl chrNW_004955568:1,132,857...1,189,024
JBrowse link
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:26942288, PMID:27657687 NCBI chrNW_004955527:19,069...45,951
Ensembl chrNW_004955527:19,069...45,951
JBrowse link
G Gdf6 growth differentiation factor 6 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:18425797, PMID:19129173, PMID:23307924, PMID:24033266, PMID:25741868, PMID:28492532, PMID:32737436 NCBI chrNW_004955417:12,152,448...12,169,173
Ensembl chrNW_004955417:12,152,448...12,169,362
JBrowse link
G Hnf1b HNF1 homeobox B ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:24429398, PMID:25741868 NCBI chrNW_004955451:320,283...371,420
Ensembl chrNW_004955451:320,283...371,420
JBrowse link
G Lifr LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868, PMID:28334964, PMID:28492532 NCBI chrNW_004955426:23,045,867...23,093,694
Ensembl chrNW_004955426:23,047,167...23,116,891
JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 NCBI chrNW_004955568:1,660,357...1,812,285
Ensembl chrNW_004955568:1,660,731...1,809,173
JBrowse link
G Nrip1 nuclear receptor interacting protein 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:28381549 NCBI chrNW_004955407:16,740,253...16,820,297
Ensembl chrNW_004955407:16,740,253...16,820,297
JBrowse link
G Ofd1 OFD1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004955519:4,433,747...4,470,842
Ensembl chrNW_004955519:4,433,855...4,471,070
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:27657687, PMID:28492532 NCBI chrNW_004955546:1,221,995...1,252,147
Ensembl chrNW_004955546:1,221,995...1,253,946
JBrowse link
G Six2 SIX homeobox 2 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:27657687 NCBI chrNW_004955441:12,029,530...12,033,214
Ensembl chrNW_004955441:12,029,480...12,033,214
JBrowse link
G Slit2 slit guidance ligand 2 ISO ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:25741868, PMID:26026792 NCBI chrNW_004955480:3,982,977...4,314,160
Ensembl chrNW_004955480:3,984,586...4,313,908
JBrowse link
G Srgap1 SLIT-ROBO Rho GTPase activating protein 1 ISO ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:25741868, PMID:26026792 NCBI chrNW_004955458:10,842,745...10,991,500
Ensembl chrNW_004955458:10,841,896...10,991,500
JBrowse link
G Tbx6 T-box transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30578417 NCBI chrNW_004955493:6,888,832...6,894,840
Ensembl chrNW_004955493:6,888,832...6,894,831
JBrowse link
CAKUT1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dstyk dual serine/threonine and tyrosine protein kinase ISO OMIM NCBI chrNW_004955406:40,922,972...40,971,433
Ensembl chrNW_004955406:40,922,972...40,971,582
JBrowse link
G Srgap1 SLIT-ROBO Rho GTPase activating protein 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1, susceptibility to ClinVar PMID:25741868, PMID:26026792 NCBI chrNW_004955458:10,842,745...10,991,500
Ensembl chrNW_004955458:10,841,896...10,991,500
JBrowse link
G Upk3a uroplakin 3A ISO ClinVar Annotator: match by term: Renal hypodysplasia, nonsyndromic, 1 ClinVar PMID:15888565, PMID:16731295 NCBI chrNW_004955413:29,673,160...29,679,604
Ensembl chrNW_004955413:29,672,970...29,682,245
JBrowse link
CAKUT2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO DNA:mutations:cds: c.485G> A (p.R162Q), c.1167T> C(human) RGD PMID:21927809 RGD:13446406 NCBI chrNW_004955409:9,432,835...9,439,680
Ensembl chrNW_004955409:9,432,841...9,440,303
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
JBrowse link
G Tbx18 T-box transcription factor 18 ISO OMIM NCBI chrNW_004955411:12,194,560...12,232,374
Ensembl chrNW_004955411:12,194,550...12,232,374
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chrNW_004955516:507,113...511,360
Ensembl chrNW_004955516:505,789...512,118
JBrowse link
CAKUT3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nrip1 nuclear receptor interacting protein 1 ISO OMIM NCBI chrNW_004955407:16,740,253...16,820,297
Ensembl chrNW_004955407:16,740,253...16,820,297
JBrowse link
calcium oxalate nephrolithiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ambp alpha-1-microglobulin/bikunin precursor ISO protein:increased expression:urine RGD PMID:15533056, PMID:16622176 RGD:6904147, RGD:6904219 NCBI chrNW_004955419:13,478,904...13,492,329
Ensembl chrNW_004955419:13,478,552...13,492,327
JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:increased expression:serum: RGD PMID:21908029 RGD:7207408 NCBI chrNW_004955545:2,381,091...2,382,114
Ensembl chrNW_004955545:2,381,156...2,381,978
JBrowse link
G Casr calcium sensing receptor susceptibility ISO associated with Hyperparathyroidism, Primary; DNA:snp:intron:IVS1 G>A rs1501899 (human)
DNA:missense mutation:cds:p.R990G (rs1042636)(human)
DNA:snp:intron:IVS4+11988A>G rs17251221 (human)
DNA:missense mutations:cds:p.A986S, p.E1011Q (human)
RGD PMID:17018660, PMID:20602573, PMID:21183554, PMID:21966463 RGD:13464331, RGD:7205445, RGD:7205446, RGD:7205447 NCBI chrNW_004955427:21,486,608...21,574,017
Ensembl chrNW_004955427:21,486,427...21,575,210
JBrowse link
G Cat catalase ISO RGD PMID:21557843 RGD:7205663 NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464
JBrowse link
G F2 coagulation factor II, thrombin ISO mRNA:decreased expression:kidney RGD PMID:16981243 RGD:6893592 NCBI chrNW_004955422:1,356,675...1,367,788
Ensembl chrNW_004955422:1,356,769...1,367,517
JBrowse link
G Fn1 fibronectin 1 ISO DNA:polymorphism: :
protein:increased expression:kidney
RGD PMID:11025758, PMID:19616291 RGD:7206842, RGD:7206846 NCBI chrNW_004955457:629,599...694,948
Ensembl chrNW_004955457:629,518...696,975
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*1 (human) RGD PMID:17258699 RGD:6907128 NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471
JBrowse link
G Pth parathyroid hormone ISO protein:decreased expression:serum (human) RGD PMID:23470222 RGD:7242417 NCBI chrNW_004955414:28,828,389...28,831,417
Ensembl chrNW_004955414:28,825,651...28,831,117
JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO OMIM NCBI chrNW_004955514:476,062...484,710
Ensembl chrNW_004955514:475,731...479,616
JBrowse link
Cardio-Renal Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Havcr1 hepatitis A virus cellular receptor 1 susceptibility ISO protein:increased expression:kidney tubule: RGD PMID:22367506, PMID:23220287 RGD:7245477, RGD:7245950 NCBI chrNW_004955408:11,047,679...11,070,492 JBrowse link
cataract 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc16a12 solute carrier family 16 member 12 ISO OMIM NCBI chrNW_004955425:3,474,814...3,560,138
Ensembl chrNW_004955425:3,509,142...3,560,138
JBrowse link
CD59 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd59 CD59 molecule (CD59 blood group) ISO OMIM NCBI chrNW_004955422:12,500,572...12,528,738 JBrowse link
chromophobe renal cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: Chromophobe renal cell carcinoma ClinVar PMID:9754819, PMID:15649945, PMID:19929997, PMID:21696527, PMID:22432108, PMID:25741868, PMID:28492532 NCBI chrNW_004955455:10,694,102...10,717,613
Ensembl chrNW_004955455:10,694,102...10,717,613
JBrowse link
G Hnf1b HNF1 homeobox B ISO ClinVar Annotator: match by term: Chromophobe renal cell carcinoma ClinVar PMID:15649945, PMID:16371430, PMID:25536396, PMID:25700310, PMID:25741868 NCBI chrNW_004955451:320,283...371,420
Ensembl chrNW_004955451:320,283...371,420
JBrowse link
Chromosome 11p Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar NCBI chrNW_004955476:9,850,110...10,054,313
Ensembl chrNW_004955476:9,849,365...10,054,583
JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:9727514, PMID:12868034, PMID:15086958, PMID:17417613, PMID:18776953, PMID:25741868, PMID:28492532 NCBI chrNW_004955476:10,058,979...10,074,668
Ensembl chrNW_004955476:10,058,961...10,074,162
JBrowse link
Chronic Allograft Nephropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco1 aconitase 1 ISO RGD PMID:20176611 RGD:11541086 NCBI chrNW_004955472:3,141,473...3,170,959
Ensembl chrNW_004955472:3,141,257...3,170,959
JBrowse link
G Alb albumin disease_progression ISO RGD PMID:24370342 RGD:11035281 NCBI chrNW_004955447:9,327...21,212 JBrowse link
G Clu clusterin treatment ISO RGD PMID:22494435 RGD:9068431 NCBI chrNW_004955403:50,160,598...50,175,876
Ensembl chrNW_004955403:50,160,598...50,175,876
JBrowse link
G Mmp7 matrix metallopeptidase 7 treatment ISO RGD PMID:18209025 RGD:9685339 NCBI chrNW_004955412:5,780,772...5,792,485
Ensembl chrNW_004955412:5,778,502...5,792,445
JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO RGD PMID:11889420 RGD:11080974 NCBI chrNW_004955460:8,328,400...8,346,755
Ensembl chrNW_004955460:8,326,891...8,346,550
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO mRNA:increased expression:kidney: RGD PMID:11889420, PMID:15785371 RGD:10449491, RGD:11080974 NCBI chrNW_004955413:25,150,702...25,166,987
Ensembl chrNW_004955413:25,148,062...25,166,987
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO RGD PMID:11889420 RGD:11080974 NCBI chrNW_004955447:16,570,652...16,613,410
Ensembl chrNW_004955447:16,569,909...16,612,373
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO RGD PMID:11889420 RGD:11080974 NCBI chrNW_004955415:4,365,848...4,403,317
Ensembl chrNW_004955415:4,365,743...4,403,587
JBrowse link
G Plau plasminogen activat