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.


show annotations for term's descendants           Sort by:
 
urinary system disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISS MouseDO NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Lzts2 leucine zipper tumor suppressor 2 ISS MouseDO NCBI chr 1:264,765,256...264,776,553
Ensembl chr 1:264,768,105...264,776,616
JBrowse link
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 chr 8:106,604,421...106,617,591
Ensembl chr 8:106,604,379...106,617,597
JBrowse link
G Wnt4 Wnt family member 4 ISO ClinVar Annotator: match by term: Serkal syndrome
ClinVar Annotator: match by OMIM:611812
OMIM
ClinVar
PMID:18179883, PMID:25741868 NCBI chr 5:155,649,238...155,668,065
Ensembl chr 5:155,649,217...155,672,579
JBrowse link
acute kidney failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chr 4:154,309,426...154,359,138
Ensembl chr 4:154,309,426...154,359,137
JBrowse link
G Ace angiotensin I converting enzyme treatment IMP RGD PMID:24502693 RGD:11039053 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Adrb2 adrenoceptor beta 2 treatment IEP
IMP
ISO
associated with endotoxemia; protein:increased expression:kidney
associated with Endotoxemia;
associated with Bacteremia;
RGD PMID:14747378, PMID:19020966, PMID:19887504, PMID:14747378 RGD:7175276, RGD:7175283, RGD:7175281, RGD:7175276 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Afm afamin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr14:19,078,678...19,132,212
Ensembl chr14:19,078,680...19,132,208
JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO RGD PMID:21811803 RGD:7243868 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Ahsg alpha-2-HS-glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr11:81,711,269...81,717,594 JBrowse link
G Alad aminolevulinate dehydratase IEP protein:decreased activity:kidney (rat) RGD PMID:19484701 RGD:4144146 NCBI chr 5:78,368,867...78,379,206
Ensembl chr 5:78,368,867...78,379,346
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:2048579, PMID:21259293, PMID:24361871, PMID:28885000 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Alox5 arachidonate 5-lipoxygenase IMP RGD PMID:19194548 RGD:2317536 NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
JBrowse link
G Ambp alpha-1-microglobulin/bikunin precursor ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:8963945, PMID:28885000, PMID:8963945 RGD:6904218 NCBI chr 5:78,975,690...78,986,021
Ensembl chr 5:78,975,678...78,985,990
JBrowse link
G Amn amnion associated transmembrane protein ISO CTD Direct Evidence: therapeutic CTD PMID:20514524 NCBI chr 6:135,724,455...135,731,896
Ensembl chr 6:135,724,455...135,731,896
JBrowse link
G Anxa1 annexin A1 treatment IDA RGD PMID:22101490 RGD:7421583 NCBI chr 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
JBrowse link
G Ar androgen receptor IEP RGD PMID:24503548 RGD:11570523 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Arg1 arginase 1 IEP mRNA:decreased expression:renal tubule (rat) RGD PMID:12371970 RGD:631989 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
JBrowse link
G Arg2 arginase 2 IEP mRNA:decreased expression:renal tubule (rat) RGD PMID:12371970 RGD:631989 NCBI chr 6:102,311,097...102,338,406
Ensembl chr 6:102,311,116...102,338,520
JBrowse link
G Atp5f1b ATP synthase F1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25666834 NCBI chr 7:2,504,708...2,511,748
Ensembl chr 7:2,504,695...2,511,749
JBrowse link
G Avp arginine vasopressin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2139164 NCBI chr 3:123,117,482...123,119,460
Ensembl chr 3:123,117,492...123,119,460
JBrowse link
G Avpr1a arginine vasopressin receptor 1A IMP RGD PMID:17347933 RGD:2300348 NCBI chr 7:67,341,366...67,345,290
Ensembl chr 7:67,341,080...67,345,308
JBrowse link
G B2m beta-2 microglobulin IEP
ISO
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD PMID:2689182, PMID:22005293, PMID:28885000, PMID:19536607 RGD:6482685 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
JBrowse link
G Bad BCL2-associated agonist of cell death treatment IEP RGD PMID:20037173 RGD:10053672 NCBI chr 1:222,198,516...222,207,459
Ensembl chr 1:222,198,534...222,207,453
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:20623750, PMID:20037173 RGD:10053672 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP protein:increased expression:kidney RGD PMID:20037173 RGD:10053672 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bcl2l1 Bcl2-like 1 IEP protein:increased expression:kidney RGD PMID:20037173 RGD:10053672 NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24975837 NCBI chr 6:129,399,468...129,429,676
Ensembl chr 6:129,399,468...129,429,676
JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Capn1 calpain 1 treatment IEP associated with Rhabdomyolysis; RGD PMID:24158126 RGD:13792553 NCBI chr 1:221,346,081...221,370,965
Ensembl chr 1:221,346,066...221,370,322
JBrowse link
G Casp1 caspase 1 IMP RGD PMID:16557226 RGD:2293624 NCBI chr 8:2,605,743...2,614,637
Ensembl chr 8:2,604,962...2,614,631
JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO protein:increased expression:kidney RGD PMID:22778179 RGD:7247739 NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO RGD PMID:20482449 RGD:6906908 NCBI chr10:70,869,516...70,871,066
Ensembl chr10:70,869,513...70,871,066
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased secretion:serum (mouse) RGD PMID:19508392 RGD:4889990 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26055553 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cct7 chaperonin containing TCP1 subunit 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31825490 NCBI chr 4:117,235,023...117,252,265
Ensembl chr 4:117,235,023...117,252,265
JBrowse link
G Cd44 CD44 molecule (Indian blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chr 3:92,695,083...92,783,820
Ensembl chr 3:92,696,313...92,783,658
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B IEP protein:decreased expression:kidney RGD PMID:16557226 RGD:2293624 NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
JBrowse link
G Clu clusterin IEP
ISO
protein:increased expression:urine
CTD Direct Evidence: marker/mechanism
CTD PMID:20118187, PMID:20623750, PMID:22005293, PMID:23052191, PMID:24361871, PMID:28885000, PMID:22581811 RGD:7245501 NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
JBrowse link
G Crp C-reactive protein IEP
ISO
protein:increased expression:serum
associated with Myocardial Infarction;
RGD PMID:22551254, PMID:22694718 RGD:6903282, RGD:6906888 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Csf1 colony stimulating factor 1 ISO RGD PMID:23143303 RGD:7257565 NCBI chr 2:210,522,370...210,550,546
Ensembl chr 2:210,522,375...210,550,560
JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO RGD PMID:23143303 RGD:7257565 NCBI chr18:56,414,493...56,458,300
Ensembl chr18:56,414,488...56,458,300
JBrowse link
G Cst3 cystatin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22005293, PMID:28885000 NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 ISO mRNA:increased expression:kidney, liver, spleen RGD PMID:21677145 RGD:7175314 NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 treatment ISO RGD PMID:19890363, PMID:18495746 RGD:7257732, RGD:7257735 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 treatment ISO RGD PMID:23981375, PMID:18495746 RGD:7257727, RGD:7257735 NCBI chr 8:62,451,360...62,458,244
Ensembl chr 8:62,451,329...62,458,301
JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 IDA RGD PMID:6223803 RGD:2307326 NCBI chr 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005
JBrowse link
G Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19814645 NCBI chr 1:147,713,879...147,814,410
Ensembl chr 1:147,713,892...147,888,007
JBrowse link
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19814645 NCBI chr 7:123,599,264...123,608,436
Ensembl chr 7:123,599,266...123,608,436
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 treatment IEP RGD PMID:24717297, PMID:24412858 RGD:14700914, RGD:14700920 NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
JBrowse link
G Cyp3a23-3a1 cytochrome P450, family 3, subfamily a, polypeptide 23-polypeptide 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20623750 NCBI chr12:11,053,888...11,082,742
Ensembl chr12:11,655,402...11,733,136
JBrowse link
G Ddit3 DNA-damage inducible transcript 3 IEP Protein:increased expression:renal tubule epithelium RGD PMID:15476864 RGD:1599736 NCBI chr 7:70,578,564...70,585,074
Ensembl chr 7:70,580,198...70,585,084
JBrowse link
G Ece1 endothelin converting enzyme 1 IMP
IEP
RGD PMID:11043448, PMID:10073607 RGD:7244180, RGD:7244185 NCBI chr 5:156,215,469...156,318,652
Ensembl chr 5:156,215,417...156,318,671
JBrowse link
G Edn1 endothelin 1 ISO mRNA, protein:increased expression:kidney (mouse)
CTD Direct Evidence: marker/mechanism
CTD PMID:9788586, PMID:19967049 RGD:4144852 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Egf epidermal growth factor ISO
IEP
mRNA:decreased expression:kidney RGD PMID:20482449, PMID:11340354 RGD:6906908, RGD:10395241 NCBI chr 2:68,820,616...68,895,537 JBrowse link
G Egfr epidermal growth factor receptor IEP
ISO
mRNA:increased expression:kidney
CTD Direct Evidence: therapeutic
CTD PMID:14638913, PMID:11340354 RGD:10395241 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Egln1 egl-9 family hypoxia-inducible factor 1 IEP mRNA, protein:decreased expression:kidney RGD PMID:19349364 RGD:11252083 NCBI chr19:57,660,194...57,701,158
Ensembl chr19:57,662,278...57,699,113
JBrowse link
G Egln3 egl-9 family hypoxia-inducible factor 3 IEP mRNA, protein:decreased expression:kidney RGD PMID:19349364 RGD:11252083 NCBI chr 6:75,050,329...75,075,795
Ensembl chr 6:75,050,329...75,075,795
JBrowse link
G Epas1 endothelial PAS domain protein 1 treatment IDA RGD PMID:16762988 RGD:10395386 NCBI chr 6:10,306,508...10,385,239
Ensembl chr 6:10,306,405...10,387,265
JBrowse link
G Ephx2 epoxide hydrolase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:26165641 NCBI chr15:42,757,241...42,794,211
Ensembl chr15:42,757,235...42,794,279
JBrowse link
G Epo erythropoietin treatment ISO CTD Direct Evidence: therapeutic CTD PMID:21847101, PMID:24561306, PMID:22209169, PMID:22235348 RGD:10400913, RGD:11041660 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:renal tubule (rat) RGD PMID:21374789 RGD:8663469 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Fga fibrinogen alpha chain IEP mRNA:increased expression:kidney (rat) RGD PMID:15805072 RGD:9685024 NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
JBrowse link
G Fis1 fission, mitochondrial 1 IEP protein:decreased expression:kidney (rat) RGD PMID:26480480 RGD:12910862 NCBI chr12:22,750,485...22,765,324
Ensembl chr12:22,750,485...22,765,308
JBrowse link
G Fn1 fibronectin 1 IEP protein:increased expression:kidney RGD PMID:12884040, PMID:11768240 RGD:7205684, RGD:729934 NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078
JBrowse link
G Fstl1 follistatin-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20861081 NCBI chr11:65,791,196...65,845,721
Ensembl chr11:65,782,567...65,845,418
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:602954, PMID:734759, PMID:4794122 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gas6 growth arrest specific 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19564549 NCBI chr16:81,213,364...81,243,824
Ensembl chr16:81,213,364...81,243,757
JBrowse link
G Gatm glycine amidinotransferase IEP protein:decreased activity:kidney (rat) RGD PMID:2752493 RGD:1599823 NCBI chr 3:114,711,570...114,728,155
Ensembl chr 3:114,711,562...114,728,410
JBrowse link
G Gc GC, vitamin D binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
JBrowse link
G Gfer growth factor, augmenter of liver regeneration treatment IEP
ISO
IDA
protein:increased expression:cortex of kidney,renal medulla:
CTD Direct Evidence: therapeutic
CTD PMID:20030531, PMID:20030531, PMID:20030531 RGD:9685736, RGD:9685736 NCBI chr10:14,059,347...14,061,703
Ensembl chr10:14,059,347...14,061,703
JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO RGD PMID:19625378 RGD:7242430 NCBI chr 4:145,674,157...145,678,066
Ensembl chr 4:145,674,157...145,678,066
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 IEP protein:decreased activity:kidney (rat) RGD PMID:23924727 RGD:13506245 NCBI chr19:9,587,637...9,613,323
Ensembl chr19:9,587,653...9,613,340
JBrowse link
G Gpnmb glycoprotein nmb ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chr 4:78,694,447...78,715,685
Ensembl chr 4:78,694,447...78,715,683
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:22785175 NCBI chr11:65,060,884...65,208,842
Ensembl chr11:65,066,235...65,209,268
JBrowse link
G Gsr glutathione-disulfide reductase IEP
ISO
glycerol-induced
protein:decreased activity:kidney:
RGD PMID:1870354, PMID:22286819 RGD:7257559, RGD:7257585 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Gsta1 glutathione S-transferase alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 9:27,366,404...27,381,004
Ensembl chr 9:27,368,272...27,452,902
JBrowse link
G Gstm2 glutathione S-transferase mu 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20623750 NCBI chr 2:210,778,041...210,782,807
Ensembl chr 2:210,720,704...210,782,856
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20623750, PMID:20798258 RGD:6903954 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 IEP
ISO
protein:increased expression:urine
CTD Direct Evidence: marker/mechanism
protein:increased expression:urine:
associated with Pyelonephritis;protein:increased expression:urine:
CTD PMID:20118187, PMID:21259293, PMID:21835770, PMID:22005293, PMID:23052191, PMID:23845967, PMID:24189134, PMID:24361871, PMID:24958931, PMID:28885000, PMID:23683031, PMID:23019274, PMID:23319831 RGD:7244370, RGD:7245495, RGD:7245472 NCBI chr10:31,813,819...31,860,934
Ensembl chr10:31,813,814...31,848,379
JBrowse link
G Hbegf heparin-binding EGF-like growth factor IEP
ISO
mRNA:increased expression:kidney
CTD Direct Evidence: marker/mechanism
CTD PMID:7635938, PMID:11340354 RGD:10395241 NCBI chr18:29,330,302...29,340,185
Ensembl chr18:29,329,764...29,340,403
JBrowse link
G Hdac2 histone deacetylase 2 treatment ISO associated with sepsis; RGD PMID:22933299 RGD:9590257 NCBI chr20:43,084,870...43,108,198
Ensembl chr20:43,084,870...43,108,198
JBrowse link
G Hdac3 histone deacetylase 3 IEP RGD PMID:21416250 RGD:10047111 NCBI chr18:31,073,057...31,094,347
Ensembl chr18:31,073,058...31,094,303
JBrowse link
G Hdac5 histone deacetylase 5 treatment ISO
IEP
associated with sepsis; RGD PMID:22933299, PMID:21416250 RGD:9590257, RGD:10047111 NCBI chr10:90,140,183...90,169,853
Ensembl chr10:90,140,183...90,151,042
JBrowse link
G Hes1 hes family bHLH transcription factor 1 IEP mRNA:increased expression:kidney collecting duct (rat)
protein:increased expression:kidney tubule (rat)
RGD PMID:24397211, PMID:24325066 RGD:9685383, RGD:9685389 NCBI chr11:74,312,837...74,315,249
Ensembl chr11:74,312,806...74,315,248
JBrowse link
G Hexb hexosaminidase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:22005293 NCBI chr 2:27,983,925...28,003,260
Ensembl chr 2:27,984,117...28,003,186
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha treatment IEP
IDA
mRNA:increased expression:renal cortex (rat) RGD PMID:18593636, PMID:16762988, PMID:15673301 RGD:9068894, RGD:10395386, RGD:10395376 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO associated with Sepsis RGD PMID:16557230 RGD:5508471 NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
JBrowse link
G Hmox1 heme oxygenase 1 treatment IMP
ISO
associated with Sepsis
CTD Direct Evidence: therapeutic
CTD PMID:21048024, PMID:23807243 RGD:10755583 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hp haptoglobin IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:28885000, PMID:19270397 RGD:11041863 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Hpx hemopexin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 1:170,423,558...170,431,066
Ensembl chr 1:170,423,483...170,431,073
JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12690470, PMID:19546256 NCBI chr20:4,875,834...4,881,751
Ensembl chr20:4,877,324...4,879,779
JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 IEP protein:increased expression:kidney, lysosome (rat) RGD PMID:14966137 RGD:7242786 NCBI chr 8:44,989,401...44,993,261
Ensembl chr 8:44,990,014...44,993,179
JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment IEP RGD PMID:22659586 RGD:7175102 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:7540432 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igf1r insulin-like growth factor 1 receptor IEP mRNA: decreased expression: kidney: both cortex and medulla RGD PMID:9767523 RGD:7242908 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Igfbp1 insulin-like growth factor binding protein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:7540432 NCBI chr14:87,448,716...87,453,783
Ensembl chr14:87,448,692...87,453,785
JBrowse link
G IgG-2a gamma-2a immunoglobulin heavy chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:28885000
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18460982 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il18 interleukin 18 ISO RGD PMID:11342578 RGD:6893450 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:21716595 RGD:6907069 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta IDA
ISO
IEP
mRNA:increased expression:kidney, liver, spleen (mouse)
protein:increased expression:kidney (rat)
RGD PMID:22750969, PMID:21677145, PMID:22286667, PMID:22659586 RGD:7175094, RGD:7175314, RGD:7175258, RGD:7175102 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO associated with Sepsis
associated with Asphyxia; rat model treated with human protein
RGD PMID:16763508, PMID:14610321, PMID:16259926 RGD:6907360, RGD:6907375, RGD:6907369 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il20 interleukin 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18496552 NCBI chr13:47,644,071...47,651,487
Ensembl chr13:47,644,071...47,647,715
JBrowse link
G Il6 interleukin 6 ISO associated with Acute Lung Injury;protein:increased expression:plasma
CTD Direct Evidence: therapeutic
CTD PMID:21570986, PMID:18074478 RGD:5128661 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12243603 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Klk1 kallikrein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18227104 NCBI chr 1:100,131,562...100,135,556
Ensembl chr 1:100,059,967...100,203,329
Ensembl chr 1:100,059,967...100,203,329
Ensembl chr 1:100,059,967...100,203,329
JBrowse link
G Kng2 kininogen 2 ISO CTD Direct Evidence: therapeutic CTD PMID:513486, PMID:3015452 NCBI chr11:81,509,185...81,516,759 JBrowse link
G Lcn2 lipocalin 2 IEP
ISO
protein:increased expression:urine
CTD Direct Evidence: marker/mechanism
CTD PMID:20623750, PMID:22005293, PMID:23052191, PMID:27888128, PMID:28885000, PMID:23683031 RGD:7244370 NCBI chr 3:11,414,189...11,417,534
Ensembl chr 3:11,414,186...11,417,546
JBrowse link
G Lgals3 galectin 3 IEP mRNA:increased expression:kidney RGD PMID:10980121 RGD:9685228 NCBI chr15:24,153,602...24,165,537
Ensembl chr15:24,141,651...24,165,537
JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29286200 NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551
JBrowse link
G Mb myoglobin ISO
IDA
protein: increased expression: serum RGD PMID:23497406, PMID:9822635 RGD:7244253, RGD:7244259 NCBI chr 7:118,101,633...118,108,864
Ensembl chr 7:118,101,634...118,108,864
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase IEP protein:increased expression:renal parenchyma (rat) RGD PMID:17940345 RGD:2317469 NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
JBrowse link
G Mfn1 mitofusin 1 IEP protein:decreased expression:kidney (rat) RGD PMID:26480480 RGD:12910862 NCBI chr 2:118,929,738...118,971,689
Ensembl chr 2:118,929,738...118,973,698
JBrowse link
G Mir10a microRNA 10a ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr10:84,165,950...84,166,059
Ensembl chr10:84,165,950...84,166,059
JBrowse link
G Mir122 microRNA 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr18:60,755,285...60,755,369 JBrowse link
G Mir140 microRNA 140 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr19:39,608,951...39,609,049
Ensembl chr19:39,608,951...39,609,049
JBrowse link
G Mir143 microRNA 143 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr18:56,971,273...56,971,377
Ensembl chr18:56,971,273...56,971,377
JBrowse link
G Mir146b microRNA 146b ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 1:266,089,488...266,089,575
Ensembl chr 1:266,089,488...266,089,575
JBrowse link
G Mir148a microRNA 148a ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 4:81,013,269...81,013,365
Ensembl chr 4:81,013,269...81,013,365
JBrowse link
G Mir151 microRNA 151 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 7:114,485,547...114,485,643 JBrowse link
G Mir152 microRNA 152 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32583487 NCBI chr10:84,719,319...84,719,403
Ensembl chr10:84,719,319...84,719,403
JBrowse link
G Mir192 microRNA 192 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 1:221,634,971...221,635,080
Ensembl chr 1:221,634,971...221,635,080
JBrowse link
G Mir23a microRNA 23a ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr19:25,318,582...25,318,656
Ensembl chr19:25,318,582...25,318,656
JBrowse link
G Mir25 microRNA 25 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr12:19,307,340...19,307,423
Ensembl chr12:19,307,340...19,307,423
JBrowse link
G Mir26a microRNA 26a EXP CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 8:127,714,441...127,714,530
Ensembl chr 8:127,714,441...127,714,530
JBrowse link
G Mir30a microRNA 30a ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 9:29,542,635...29,542,705
Ensembl chr 9:29,542,635...29,542,705
JBrowse link
G Mir30d microRNA 30d ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 7:109,286,463...109,286,544
Ensembl chr 7:109,286,463...109,286,544
JBrowse link
G Mir3473 microRNA 3473 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr13:44,719,335...44,719,401
Ensembl chr13:44,719,335...44,719,401
JBrowse link
G Mir486 microRNA 486 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 Ensembl chr16:73,680,363...73,680,490 JBrowse link
G Mir99a microRNA 99a ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr11:16,052,153...16,052,233
Ensembl chr11:16,052,153...16,052,233
JBrowse link
G Mirlet7i microRNA let-7i ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 7:66,802,731...66,802,815
Ensembl chr 7:66,802,732...66,802,821
JBrowse link
G Mpo myeloperoxidase ISO
IDA
DNA:haplotye: :
CTD Direct Evidence: marker/mechanism
CTD PMID:20623750, PMID:22739978, PMID:19793022 RGD:6909168, RGD:6909185 NCBI chr10:75,087,892...75,098,260
Ensembl chr10:75,087,892...75,098,260
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17387702 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mtor mechanistic target of rapamycin kinase IMP RGD PMID:23022334 RGD:7245507 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Muc20 mucin 20, cell surface associated ISO RGD PMID:14565953 RGD:7364790 NCBI chr11:71,222,602...71,236,223
Ensembl chr11:71,222,600...71,236,223
JBrowse link
G Mug1 murinoglobulin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 4:154,676,382...154,729,288
Ensembl chr 4:154,391,647...154,729,310
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor susceptibility ISO protein:decreased phosphorylation:kidney (mouse) RGD PMID:23228991 RGD:7207407 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 IEP RGD PMID:22160772 RGD:13801199 NCBI chr 1:264,298,671...264,303,712
Ensembl chr 1:264,298,669...264,303,762
JBrowse link
G Nes nestin IEP RGD PMID:24503548 RGD:11570523 NCBI chr 2:187,343,109...187,352,972
Ensembl chr 2:187,344,056...187,352,969
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 treatment IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:24958931, PMID:24291173 RGD:10412697 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29286200 NCBI chr 2:240,773,520...240,890,053
Ensembl chr 2:240,773,456...240,866,689
JBrowse link
G Nos1 nitric oxide synthase 1 IEP RGD PMID:14531809 RGD:13825139 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9810145 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nos3 nitric oxide synthase 3 ISO
IEP
CTD Direct Evidence: marker/mechanism
in females;mRNA:increased expression:cortex of kidney (rat)
CTD PMID:9788586, PMID:28947737 RGD:13450947 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Nppa natriuretic peptide A IEP
ISO
mRNA:increased expression:kidney
CTD Direct Evidence: marker/mechanism|therapeutic
CTD PMID:1825077, PMID:2948068, PMID:19298916, PMID:22209992 RGD:7247715 NCBI chr 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705
JBrowse link
G Nppb natriuretic peptide B ISO
IEP
associated with lung diseases;protein:increased expression:serum:
mRNA:increased expression:kidney
associated with Myocardial Infarction;protein:increased expression:serum:
associated with Pneumonia;protein:increased expression:serum:
RGD PMID:23837838, PMID:22209992, PMID:23192919, PMID:23415693 RGD:7247620, RGD:7247715, RGD:7247624, RGD:7247622 NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism CTD PMID:26723870, PMID:28230744 RGD:13440091 NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
JBrowse link
G Ocln occludin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19766176 NCBI chr 2:30,527,327...30,577,218
Ensembl chr 2:30,527,715...30,577,218
JBrowse link
G Orm1 orosomucoid 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 5:79,179,668...79,182,820
Ensembl chr 5:79,179,417...79,182,820
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO RGD PMID:21884784 RGD:5510015 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel IEP protein:altered localization RGD PMID:12089381 RGD:7175293 NCBI chr14:6,602,004...6,645,257
Ensembl chr14:6,602,004...6,645,257
JBrowse link
G Plat plasminogen activator, tissue type ISO protein:increased expression:plasma (human) RGD PMID:9767551 RGD:11541071 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Plg plasminogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 1:48,521,828...48,563,895
Ensembl chr 1:48,521,772...48,563,776
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:17216604 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma treatment IDA
ISO
CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:20623750, PMID:24011919, PMID:24433871, PMID:17494862 RGD:8553020 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO associated with Endotoxemia; mRNA:decreased expression:kidney (mouse) RGD PMID:21881206 RGD:7242026 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa treatment ISO RGD PMID:19092124 RGD:11250410 NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
JBrowse link
G Procr protein C receptor treatment IEP associated with Sepsis RGD PMID:23807243 RGD:10755583 NCBI chr 3:151,285,321...151,289,581
Ensembl chr 3:151,285,249...151,289,595
JBrowse link
G Ptafr platelet-activating factor receptor treatment IMP associated with Endotoxemia RGD PMID:2538527 RGD:10043182 NCBI chr 5:150,746,284...150,775,675
Ensembl chr 5:150,754,021...150,775,672
JBrowse link
G Ptger4 prostaglandin E receptor 4 treatment IMP RGD PMID:16871242 RGD:10003092 NCBI chr 2:54,951,625...54,966,470
Ensembl chr 2:54,952,821...54,963,448
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP RGD PMID:21893983 RGD:5508181 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Rapgef3 Rap guanine nucleotide exchange factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21745194 NCBI chr 7:139,232,263...139,254,668
Ensembl chr 7:139,232,251...139,254,551
JBrowse link
G Rb1 RB transcriptional corepressor 1 IEP associated with Sepsis;protein:increased phosphorylation:kidney RGD PMID:19428114 RGD:8547990 NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link
G Rup2 urinary protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 8:41,657,662...41,661,223
Ensembl chr 8:41,657,566...41,661,238
JBrowse link
G Scgb1a1 secretoglobin family 1A member 1 IEP associated with LPS induced endotoxemia RGD PMID:18824919 RGD:2313129 NCBI chr 1:225,279,698...225,283,246
Ensembl chr 1:225,279,676...225,283,326
JBrowse link
G Serpina1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
JBrowse link
G Serpinc1 serpin family C member 1 ISO associated with heart failure; protein:decreased activity:plasma: RGD PMID:26108065 RGD:11354006 NCBI chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192
JBrowse link
G Sirt1 sirtuin 1 severity IEP
ISO
protein:increased expression:kidney (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:21416250, PMID:21416250 RGD:10047111 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20623750 NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
JBrowse link
G Slc22a1 solute carrier family 22 member 1 treatment IDA RGD PMID:22414646 RGD:7243179 NCBI chr 1:48,273,639...48,300,645
Ensembl chr 1:48,273,611...48,300,655
JBrowse link
G Slc22a12 solute carrier family 22 member 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14655203 NCBI chr 1:221,910,787...221,919,277
Ensembl chr 1:221,910,767...221,919,301
JBrowse link
G Slc22a2 solute carrier family 22 member 2 treatment
susceptibility
IDA
ISO
IEP
DNA:SNP: :808G>T (rs316019) human
mRNA:decreased expression:kidney
RGD PMID:22414646, PMID:19625999, PMID:18612803 RGD:7243179, RGD:7243884, RGD:7243880 NCBI chr 1:48,318,025...48,360,219
Ensembl chr 1:48,317,995...48,360,261
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 chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11274264, PMID:20623750, PMID:22863853 RGD:6903264 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
JBrowse link
G Tf transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 8:111,694,570...111,721,275
Ensembl chr 8:111,673,547...111,721,333
JBrowse link
G Tff3 trefoil factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chr20:9,850,800...9,855,481
Ensembl chr20:9,850,803...9,855,481
JBrowse link
G Tgfa transforming growth factor alpha IEP mRNA:increased expression:kidney RGD PMID:11340354 RGD:10395241 NCBI chr 4:117,961,877...118,045,923
Ensembl chr 4:117,962,319...118,046,344
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10469268 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Thbd thrombomodulin treatment IDA
ISO
RGD PMID:19176699, PMID:17804460 RGD:5684994, RGD:5685010 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
G Tlr2 toll-like receptor 2 ISO associated with Sepsis
CTD Direct Evidence: marker/mechanism
CTD PMID:29286200, PMID:22655058 RGD:7207898 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr4 toll-like receptor 4 treatment ISO
IDA
associated with Sepsis
CTD Direct Evidence: marker/mechanism
CTD PMID:29286200, PMID:22655058, PMID:16638912, PMID:22266601 RGD:7207898, RGD:7241084, RGD:6892690 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tlr9 toll-like receptor 9 ISO associated with Sepsis RGD PMID:23548820 RGD:7245966 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO CTD Direct Evidence: marker/mechanism CTD PMID:16595132, PMID:18460982, PMID:20623750, PMID:21150875 RGD:7245548 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf12a TNF receptor superfamily member 12A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chr10:12,995,904...12,997,930
Ensembl chr10:12,995,904...12,997,930
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A susceptibility ISO associated with Acute Lung Injury
associated with Endotoxemia
associated with Shock, Septic;protein:increased expression:serum
RGD PMID:18074478, PMID:21150875, PMID:12023385, PMID:12500222 RGD:5128661, RGD:7245548, RGD:7245535, RGD:7245534 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
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:18074478, PMID:12500222, PMID:12865254 RGD:5128661, RGD:7245534, RGD:7245532 NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20603111 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Ttr transthyretin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3864191 NCBI chr 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Ugt1a9 UDP glucuronosyltransferase family 1 member A9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20623750 NCBI chr 9:95,161,157...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Uts2r urotensin 2 receptor IMP RGD PMID:15146030 RGD:2306847 NCBI chr10:110,364,291...110,365,451
Ensembl chr10:110,364,291...110,365,451
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:20943766, PMID:22808199 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Wnt4 Wnt family member 4 IDA RGD PMID:12707392 RGD:727218 NCBI chr 5:155,649,238...155,668,065
Ensembl chr 5:155,649,217...155,672,579
JBrowse link
G Xdh xanthine dehydrogenase treatment IDA
ISO
associated with Reperfusion Injury RGD PMID:22571266, PMID:18539378, PMID:19628223 RGD:7247641, RGD:7247656, RGD:7247650 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
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 IEP protein:decreased expression:kidney (rat) RGD PMID:21152904 RGD:5134352 NCBI chr 5:120,250,318...120,309,153
Ensembl chr 5:120,250,616...120,305,897
JBrowse link
G Bmp7 bone morphogenetic protein 7 IEP associated with Kidney Reperfusion Injury;protein:increased expression:kidney RGD PMID:16284088 RGD:1601494 NCBI chr 3:170,879,972...170,955,820
Ensembl chr 3:170,879,973...170,955,399
JBrowse link
G Cct7 chaperonin containing TCP1 subunit 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31825490 NCBI chr 4:117,235,023...117,252,265
Ensembl chr 4:117,235,023...117,252,265
JBrowse link
G Ciita class II, major histocompatibility complex, transactivator ISO mRNA:increased expression:kidney RGD PMID:9422398 RGD:7242901 NCBI chr10:5,212,621...5,260,641
Ensembl chr10:5,213,350...5,260,608
JBrowse link
G Fabp1 fatty acid binding protein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18368030 NCBI chr 4:99,063,181...99,066,957
Ensembl chr 4:99,063,181...99,066,954
JBrowse link
G Gsr glutathione-disulfide reductase ISO
IEP
protein:decreased activity:renal cortex: RGD PMID:17078987, PMID:12885594 RGD:7257555, RGD:7257573 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO protein:increased expression:kidney tubule, urine: RGD PMID:12081583 RGD:7245970 NCBI chr10:31,813,819...31,860,934
Ensembl chr10:31,813,814...31,848,379
JBrowse link
G Nog noggin IEP associated with Kidney Reperfusion Injury RGD PMID:16284088 RGD:1601494 NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:4358912, PMID:6254450 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19834340 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:19917352 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Tek TEK receptor tyrosine kinase IEP associated with Kidney Reperfusion Injury RGD PMID:16284088 RGD:1601494 NCBI chr 5:113,725,717...113,852,799
Ensembl chr 5:113,725,717...113,852,799
JBrowse link
acute pyelonephritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcr2 C-X-C motif chemokine receptor 2 susceptibility ISO DNA:polymorphism: :1208C>T (human) RGD PMID:22325052 RGD:7207860 NCBI chr 9:81,427,275...81,435,065
Ensembl chr 9:81,427,730...81,434,102
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 chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Tlr2 toll-like receptor 2 ISO RGD PMID:22194975 RGD:7207900 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr4 toll-like receptor 4 ISO RGD PMID:22194975 RGD:7207900 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
adenine phosphoribosyltransferase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aprt adenine phosphoribosyl transferase ISO ClinVar Annotator: match by OMIM:614723
ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency
ClinVar
OMIM
PMID:1353080, PMID:1673292, PMID:1985452, PMID:2135300, PMID:2227951, PMID:2502918, PMID:3343350, PMID:3554238, PMID:3680503, PMID:7685481, PMID:7915931, PMID:8882882, PMID:9298830, PMID:9521589, PMID:10393170, PMID:11243733, PMID:19435978, PMID:25741868, PMID:28492532 NCBI chr19:55,387,288...55,389,256
Ensembl chr19:55,387,288...55,389,256
JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency ClinVar PMID:25741868, PMID:28492532 NCBI chr19:55,391,004...55,423,328
Ensembl chr19:55,389,462...55,423,150
JBrowse link
AIDS-Associated Nephropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtr1a angiotensin II receptor, type 1a ISO RGD PMID:2 RGD:1303381 NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO RGD PMID:2 RGD:1303381 NCBI chr  X:119,389,480...119,393,845
Ensembl chr  X:119,390,013...119,393,842
JBrowse link
G Egf epidermal growth factor ISO RGD PMID:19357719 RGD:6906909 NCBI chr 2:68,820,616...68,895,537 JBrowse link
G Hp haptoglobin ISO protein:increased expression:urine RGD PMID:19279121 RGD:11041816 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:23678040, PMID:23678040 RGD:7245474, RGD:7245474 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Myh9 myosin, heavy chain 9 ISO protein:decreased expression:glomerulus RGD PMID:22313957 RGD:6903274 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
JBrowse link
G Notch4 notch receptor 4 IEP protein: increased expression: kidney RGD PMID:20706108 RGD:6480788 NCBI chr20:4,329,794...4,353,868
Ensembl chr20:4,329,811...4,353,785
JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin treatment ISO RGD PMID:19188342, PMID:17229913 RGD:38596324, RGD:38599164 NCBI chr 1:88,922,346...88,950,560
Ensembl chr 1:88,922,433...88,950,559
JBrowse link
Albuminuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme treatment ISO
IMP
associated with Diabetes Mellitus, Type 1;protein:increased activity:serum (human)
associated with Diabetic Nephropathies
CTD Direct Evidence: marker/mechanism
CTD PMID:23733546, PMID:1336356, PMID:16902320 RGD:7829770, RGD:12879427 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Adm adrenomedullin ISO associated with Hypertension RGD PMID:19424162 RGD:2313311 NCBI chr 1:175,443,189...175,447,260
Ensembl chr 1:175,445,088...175,447,259
JBrowse link
G Ager advanced glycosylation end product-specific receptor treatment ISO
IDA
associated with Diabetes Mellitus, Type 2; protein:increased expression:serum (human)
associated with Diabetes Mellitus, Experimental
associated with Diabetic Nephropathies
RGD PMID:21607631, PMID:21796806, PMID:20627935 RGD:7243944, RGD:7244184, RGD:7244135 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:12414515, PMID:18679781, PMID:21896938, PMID:15118671 RGD:1331525 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B ISO associated with Diabetes Mellitus, Experimental;human gene in a rat model RGD PMID:12166624 RGD:8548813 NCBI chr 4:61,706,866...61,720,959
Ensembl chr 4:61,706,864...61,720,956
JBrowse link
G Alb albumin ISO
IEP
associated with Diabetes Mellitus, Insulin-Dependent
associated with hypertension
RGD PMID:19414946, PMID:15102963 RGD:2306884, RGD:1601157 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphism:cds:p.R261Q (human) RGD PMID:18640486 RGD:2313875 NCBI chr10:56,851,734...56,864,049
Ensembl chr10:56,851,734...56,864,005
JBrowse link
G B2m beta-2 microglobulin ISO associated with HIV infections;protein:increased expression:urine RGD PMID:18469311 RGD:6482713 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 8:2,605,743...2,614,637
Ensembl chr 8:2,604,962...2,614,631
JBrowse link
G Casr calcium-sensing receptor IDA associated with Uremia RGD PMID:19188910 RGD:7205661 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:urine RGD PMID:21113841 RGD:5683918 NCBI chr10:70,870,926...70,886,357
Ensembl chr10:70,884,531...70,886,355
JBrowse link
G Cd38 CD38 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21992601 NCBI chr14:71,714,768...71,754,990
Ensembl chr14:71,715,269...71,754,672
JBrowse link
G Ciita class II, major histocompatibility complex, transactivator ISO DNA:polymorphism:promoter:-168A>G, in non-diabetic subjects (human) RGD PMID:17183695 RGD:5491201 NCBI chr10:5,212,621...5,260,641
Ensembl chr10:5,213,350...5,260,608
JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21752484 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
JBrowse link
G Crp C-reactive protein severity ISO associated with Anemia, Sickle Cell; protein:increased expression:serum
associated with hypertension
RGD PMID:20710104, PMID:20016210 RGD:6907441, RGD:6909147 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Csf1 colony stimulating factor 1 treatment IDA associated with Hypercholesterolemia and Diabetes Mellitus, Experimental RGD PMID:8573750 RGD:7257591 NCBI chr 2:210,522,370...210,550,546
Ensembl chr 2:210,522,375...210,550,560
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 chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
JBrowse link
G Ctsb cathepsin B IDA associated with Hypertension RGD PMID:19023196 RGD:2315726 NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612
JBrowse link
G Ctsl cathepsin L IDA associated with Hypertension RGD PMID:19023196 RGD:2315726 NCBI chr17:1,873,105...1,879,266
Ensembl chr17:1,872,848...1,879,279
JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 IMP RGD PMID:15939810 RGD:2307307 NCBI chr 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
JBrowse link
G Drd1 dopamine receptor D1 ISO DNA:polymorphism:5' utr:g.-94G>A rs5326 (human) RGD PMID:17353515 RGD:7248452 NCBI chr17:11,099,736...11,104,352
Ensembl chr17:11,101,306...11,103,541
JBrowse link
G Edn1 endothelin 1 IEP protein:increased expression:renal papilla (rat) RGD PMID:20666571 RGD:4144838 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Epo erythropoietin ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:urine,serum RGD PMID:16921186 RGD:2313841 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
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:8458188, PMID:8250495, PMID:9187410 RGD:2312410, RGD:2312407, RGD:2312406 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
G Fbn1 fibrillin 1 ISO associated with Hypertension RGD PMID:16380460 RGD:7365080 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 ISO associated with Diabetes Mellitus; protein:increased activity:serum RGD PMID:15890893 RGD:2315606 NCBI chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068
JBrowse link
G Gnaq G protein subunit alpha q ISO CTD Direct Evidence: marker/mechanism CTD PMID:16267159 NCBI chr 1:233,382,778...233,622,584
Ensembl chr 1:233,382,708...233,622,786
JBrowse link
G Gpc5 glypican 5 ISO CTD Direct Evidence: therapeutic CTD PMID:21441931 NCBI chr15:100,283,131...101,776,838 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 chr10:31,813,819...31,860,934
Ensembl chr10:31,813,814...31,848,379
JBrowse link
G Igf1 insulin-like growth factor 1 susceptibility ISO RGD PMID:16645019 RGD:1598420 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:23103566 RGD:7175089 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17167242 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9861226, PMID:29420703 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17065336, PMID:20175764, PMID:23159718, PMID:28130181, PMID:29988851 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
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 chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
JBrowse link
G Lrp2 LDL receptor related protein 2 IDA RGD PMID:12121845 RGD:1641839 NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551
JBrowse link
G Mir130a microRNA 130a ISO CTD Direct Evidence: marker/mechanism CTD PMID:24223694 NCBI chr 3:72,141,037...72,141,124
Ensembl chr 3:72,141,037...72,141,124
JBrowse link
G Mir145 microRNA 145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24223694 NCBI chr18:56,969,907...56,969,994
Ensembl chr18:56,969,907...56,969,994
JBrowse link
G Mir155 microRNA 155 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24223694 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mir322 microRNA 322 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24223694 NCBI chr  X:158,148,161...158,148,255
Ensembl chr  X:158,148,161...158,148,255
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 chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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 chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Myh9 myosin, heavy chain 9 ISO associated with hypertension;DNA:SNPs: : RGD PMID:19153477 RGD:6903241 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
JBrowse link
G Nck1 NCK adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr 8:108,787,797...108,847,779
Ensembl chr 8:108,787,798...108,847,779
JBrowse link
G Nck2 NCK adaptor protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr 9:50,246,767...50,373,307
Ensembl chr 9:50,247,692...50,373,284
JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15684566 NCBI chr13:73,929,136...73,941,522
Ensembl chr13:73,929,136...73,941,522
JBrowse link
G Pdpn podoplanin IEP RGD PMID:18199599 RGD:2292240 NCBI chr 5:161,947,137...161,981,441
Ensembl chr 5:161,947,137...161,981,441
JBrowse link
G Pon1 paraoxonase 1 ISO DNA:polymorphisms:promoter, cds (human) RGD PMID:16949520 RGD:2313272 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
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 chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17890881 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Pth parathyroid hormone ISO associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human) RGD PMID:23066118 RGD:7242730 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
G Pycard PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 1:199,438,029...199,439,062
Ensembl chr 1:199,437,832...199,439,210
JBrowse link
G Rab38 RAB38, member RAS oncogene family IAGP RGD PMID:15758045 RGD:1357409 NCBI chr 1:152,072,716...152,153,449
Ensembl chr 1:152,072,665...152,153,449
JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12414515, PMID:18679781 NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
JBrowse link
G Retn resistin ISO associated with Hypertension;protein:increased expression:blood RGD PMID:20203628 RGD:7207150 NCBI chr12:2,201,909...2,203,649
Ensembl chr12:2,201,891...2,204,249
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 chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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 chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Sh2b3 SH2B adaptor protein 3 IMP RGD PMID:25776069 RGD:13442483 NCBI chr12:40,261,990...40,265,757
Ensembl chr12:40,244,081...40,265,757
JBrowse link
G Sh2b3em1Mcwi SH2B adaptor protein 3; zinc finger nuclease induced mutant 1, Medical College of Wisconsin IMP RGD PMID:25776069 RGD:13442483
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17942768 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Spp1 secreted phosphoprotein 1 IEP RGD PMID:18443355 RGD:6903862 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17167242 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Trpc3 transient receptor potential cation channel, subfamily C, member 3 IEP associated with Hypertension;mRNA, protein:increased expression:kidney cortex RGD PMID:19887786 RGD:7247603 NCBI chr 2:123,329,954...123,467,574
Ensembl chr 2:123,329,875...123,407,496
JBrowse link
G Trpc5 transient receptor potential cation channel, subfamily C, member 5 ISO RGD PMID:24231357 RGD:10043830 NCBI chr  X:115,624,670...115,908,248
Ensembl chr  X:115,627,653...115,908,693
JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO
IEP
associated with Hypertension;mRNA:decreased expression:kidney cortex RGD PMID:21839714, PMID:19887786 RGD:7247445, RGD:7247603 NCBI chr 8:6,811,543...6,917,534
Ensembl chr 8:6,811,543...6,917,535
JBrowse link
G Tslp thymic stromal lymphopoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17686814 NCBI chr18:25,613,601...25,618,066
Ensembl chr18:25,613,831...25,617,361
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 chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
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 DNA:deletion, nonsense mutations
ClinVar Annotator: match by term: Alport syndrome
ClinVar Annotator: match by term: Alport syndrome, autosomal dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
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, PMID:7987301 RGD:1600924 NCBI chr 9:88,357,528...88,484,735
Ensembl chr 9:88,357,556...88,485,830
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 chr 9:88,314,763...88,357,183
Ensembl chr 9:88,232,455...88,357,182
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
ClinVar PMID:8651292, PMID:9848783, PMID:10563487, PMID:11223851, PMID:18083113, PMID:19919694, PMID:23572034, PMID:25741868, PMID:26467025, PMID:27627812, PMID:28492532, PMID:2349482 RGD:1600687 NCBI chr  X:112,769,595...112,983,720
Ensembl chr  X:112,769,645...112,983,685
JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:22937108 RGD:7175090 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO RGD PMID:16816359 RGD:7241212 NCBI chr 8:5,594,717...5,616,494
Ensembl chr 8:5,606,592...5,616,493
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO protein:increased expression:kidney RGD PMID:16509766 RGD:7241252 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Myh9 myosin, heavy chain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10973259 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: :HLA-DRB1*16 (human) RGD PMID:15182324 RGD:7365078 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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 ClinVar Annotator: match by term: Enamel-renal syndrome
ClinVar Annotator: match by term: Amelogenesis imperfecta and gingival fibromatosis syndrome
OMIM
ClinVar
PMID:18597613, PMID:21549343, PMID:21990045, PMID:23434854, PMID:23468644, PMID:24196488, PMID:25741868 NCBI chr10:97,962,467...98,017,171
Ensembl chr10:97,962,693...98,018,014
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 chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
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 chr  X:112,405,647...112,768,337
Ensembl chr  X:112,405,647...112,473,822
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 IEP protein:increased expression:kidney, urine
mRNA, protein:increased expression:liver, plasma
RGD PMID:21282555, PMID:7550093 RGD:5129185, RGD:11039051 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Agtr1a angiotensin II receptor, type 1a IEP protein:increased expression:kidney RGD PMID:21282555 RGD:5129185 NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
JBrowse link
G Bax BCL2 associated X, apoptosis regulator IEP mRNA, protein:increased expression:kidney RGD PMID:12234300 RGD:1579984 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP mRNA, protein:decreased expression:kidney RGD PMID:12234300 RGD:1579984 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Ccl17 C-C motif chemokine ligand 17 IEP mRNA:increased expression:glomerulus RGD PMID:20071465 RGD:4145614 NCBI chr19:10,619,220...10,620,671
Ensembl chr19:10,619,220...10,620,671
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment IEP
IDA
mRNA:increased expression:glomerulus RGD PMID:17898087, PMID:20071465, PMID:21894146 RGD:2307059, RGD:4145614, RGD:6218988 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl22 C-C motif chemokine ligand 22 IMP mRNA, protein:increased expression:glomerulus RGD PMID:12651599 RGD:2306306 NCBI chr19:10,674,189...10,681,145
Ensembl chr19:10,674,189...10,681,145
JBrowse link
G Ccl4 C-C motif chemokine ligand 4 IEP mRNA:increased expression:glomerulus RGD PMID:17898087 RGD:2307059 NCBI chr10:70,870,926...70,886,357
Ensembl chr10:70,884,531...70,886,355
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 IEP mRNA:increased expression:glomerulus RGD PMID:17898087 RGD:2307059 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Cd274 CD274 molecule treatment ISO RGD PMID:21965585 RGD:7248671 NCBI chr 1:247,519,890...247,539,659
Ensembl chr 1:247,519,939...247,537,943
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:15210767 RGD:7248442 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand IMP RGD PMID:15458437 RGD:5508170 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cd80 Cd80 molecule IMP RGD PMID:10712436 RGD:6902936 NCBI chr11:64,815,201...64,855,293
Ensembl chr11:64,827,635...64,855,353
JBrowse link
G Cfb complement factor B ISO RGD PMID:22492944 RGD:7242700 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Clu clusterin IEP protein:increased expression:urine RGD PMID:23791361 RGD:9068422 NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
JBrowse link
G Csf1 colony stimulating factor 1 treatment IDA RGD PMID:19242505 RGD:7257569 NCBI chr 2:210,522,370...210,550,546
Ensembl chr 2:210,522,375...210,550,560
JBrowse link
G Csf1r colony stimulating factor 1 receptor treatment IDA RGD PMID:19242505 RGD:7257569 NCBI chr18:56,414,493...56,458,300
Ensembl chr18:56,414,488...56,458,300
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 treatment ISO RGD PMID:10712436, PMID:8206086, PMID:10712436 RGD:6902936, RGD:11352257, RGD:6902936 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 IEP mRNA, protein:increased expression:glomerulus RGD PMID:19590241 RGD:4891946 NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 IEP mRNA, protein:increased expression:glomerulus RGD PMID:19590241 RGD:4891946 NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 IEP mRNA:increased expression:glomerulus RGD PMID:17557270 RGD:2306579 NCBI chr 4:149,261,044...149,273,891
Ensembl chr 4:149,261,044...149,273,891
JBrowse link
G Dusp1 dual specificity phosphatase 1 IEP mRNA:increased expression:glomerulus RGD PMID:8587253 RGD:633769 NCBI chr10:16,970,642...16,973,425
Ensembl chr10:16,970,626...16,973,418
JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa no_association ISO DNA:cnv: :
DNA:polymorphism:exon:(rs396991)(human)
RGD PMID:19946017, PMID:19640933 RGD:5508400, RGD:5508403 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
JBrowse link
G Gp6 glycoprotein VI ISO RGD PMID:20651232 RGD:7242710 NCBI chr 1:72,994,977...73,064,639
Ensembl chr 1:73,040,901...73,064,641
JBrowse link
G Il10 interleukin 10 treatment IDA RGD PMID:23826305 RGD:7365004 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il17a interleukin 17A treatment IDA RGD PMID:23826305 RGD:7365004 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il18 interleukin 18 ISO RGD PMID:22046355 RGD:6893447 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1b interleukin 1 beta ISO
IEP
mRNA:increased expression:kidney (mouse)
mRNA, protein:increased expression:kidney
RGD PMID:22046355, PMID:9198037 RGD:6893447, RGD:7401232 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist IDA RGD PMID:20071465 RGD:4145614 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il4 interleukin 4 IMP
IDA
RGD PMID:9350645, PMID:17898087 RGD:2317673, RGD:2307059 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Itga4 integrin subunit alpha 4 treatment IDA
IMP
RGD PMID:9032136, PMID:7679412 RGD:2308810, RGD:9698425 NCBI chr 3:66,178,745...66,265,547
Ensembl chr 3:66,193,059...66,263,960
JBrowse link
G Mapk14 mitogen activated protein kinase 14 IEP RGD PMID:21894146 RGD:6218988 NCBI chr20:5,933,290...5,995,137
Ensembl chr20:5,933,303...5,995,137
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 IEP RGD PMID:21894146 RGD:6218988 NCBI chr16:9,620,854...9,709,342
Ensembl chr16:9,625,177...9,709,347
JBrowse link
G Mif macrophage migration inhibitory factor IDA RGD PMID:10780884 RGD:1642011 NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
JBrowse link
G Mmp12 matrix metallopeptidase 12 IEP RGD PMID:21894146 RGD:6218988 NCBI chr 8:5,594,717...5,616,494
Ensembl chr 8:5,606,592...5,616,493
JBrowse link
G Mmp14 matrix metallopeptidase 14 IEP mRNA:increased expression:kidney, macrophage RGD PMID:10878552 RGD:2314954 NCBI chr15:33,074,441...33,083,666
Ensembl chr15:33,074,441...33,083,655
JBrowse link
G Nos2 nitric oxide synthase 2 IEP RGD PMID:21894146 RGD:6218988 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nppb natriuretic peptide B ISO RGD PMID:11729234 RGD:7248605 NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
JBrowse link
G Pdcd1 programmed cell death 1 treatment IEP RGD PMID:21965585 RGD:7248671 NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO RGD PMID:17888025 RGD:5563035 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Ptk2b protein tyrosine kinase 2 beta IEP protein:increased expression:glomerulus RGD PMID:11774117 RGD:729912 NCBI chr15:42,827,306...42,947,796
Ensembl chr15:42,827,310...42,947,656
JBrowse link
G Rapgef1 Rap guanine nucleotide exchange factor 1 IEP protein:increased expression:renal glomerulus RGD PMID:18784646 RGD:11534983 NCBI chr 3:8,189,594...8,307,077
Ensembl chr 3:8,192,575...8,304,976
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism (human) RGD PMID:21569485 RGD:5147561 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Selp selectin P IDA RGD PMID:21894146 RGD:6218988 NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
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 chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
G Slit2 slit guidance ligand 2 IEP mRNA:decreased expression:kidney, glomerulus RGD PMID:15215188 RGD:2316132 NCBI chr14:66,831,848...67,171,491
Ensembl chr14:66,831,848...67,170,361
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:20504883 RGD:6903276 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
JBrowse link
G Syk spleen associated tyrosine kinase IMP RGD PMID:21894146 RGD:6218988 NCBI chr17:12,614,311...12,669,568
Ensembl chr17:12,614,311...12,669,573
JBrowse link
G Tnf tumor necrosis factor IEP RGD PMID:21894146 RGD:6218988 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO protein:increased expression:urine, serum: RGD PMID:23460853 RGD:7241232 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
G Xcl1 X-C motif chemokine ligand 1 IEP mRNA:increased expression:glomerulus RGD PMID:9717977 RGD:8693304 NCBI chr13:83,199,402...83,202,845
Ensembl chr13:83,199,264...83,202,864
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 chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6734075 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8225663 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Prkab1 protein kinase AMP-activated non-catalytic subunit beta 1 treatment ISO RGD PMID:27782167 RGD:39128183 NCBI chr12:46,316,298...46,326,789
Ensembl chr12:46,316,236...46,326,790
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 chr 6:111,271,283...111,296,013
Ensembl chr 6:111,271,240...111,295,994
JBrowse link
G Vps33b VPS33B, late endosome and lysosome associated ISO ClinVar Annotator: match by term: Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 NCBI chr 1:142,060,955...142,083,955
Ensembl chr 1:142,060,955...142,083,953
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 chr 6:111,271,283...111,296,013
Ensembl chr 6:111,271,240...111,295,994
JBrowse link
G Vps33b VPS33B, late endosome and lysosome associated ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 OMIM
ClinVar
PMID:8151641, PMID:11668108, PMID:15052268, PMID:16896922, PMID:17994566, PMID:18853461, PMID:19274792, PMID:21851503, PMID:22753090, PMID:24782640, PMID:24917129, PMID:25741868, PMID:28492532, PMID:31479177 NCBI chr 1:142,060,955...142,083,955
Ensembl chr 1:142,060,955...142,083,953
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 ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 2 ClinVar
OMIM
PMID:20190753, PMID:25741868, PMID:28492532 NCBI chr 6:111,271,283...111,296,013
Ensembl chr 6:111,271,240...111,295,994
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 chr 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
JBrowse link
G Baat bile acid CoA:amino acid N-acyltransferase ISO ClinVar Annotator: match by term: atypical hemolytic uremic syndrome ClinVar NCBI chr 5:64,768,397...64,777,368
Ensembl chr 5:64,768,401...64,777,368
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 chr20:4,542,340...4,561,152
Ensembl chr20:4,542,340...4,561,152
JBrowse link
G C3 complement C3 susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612925
DNA:missense mutations: :p.F603V, p.R1042L, p.I1157T (human)
ClinVar
CTD
OMIM
PMID:1976733, PMID:14639503, PMID:17634448, PMID:18325906, PMID:18796626, PMID:19168221, PMID:20301541, 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, PMID:17517971, PMID:20513133 RGD:7364995, RGD:11040768 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 ClinVar NCBI chr 4:155,681,767...155,691,240
Ensembl chr 4:155,684,029...155,690,869
JBrowse link
G Cd46 CD46 molecule susceptibility
severity
ISO ClinVar Annotator: match by OMIM:612922
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
CTD Direct Evidence: marker/mechanism
protein:increased expression:peripheral blood mononuclear cell (human)
DNA:snp:intron:c.IVS8+23T>G (rs2724374) (human)
DNA:missense mutations:cds:p.R69W, p.A304V (human)
DNA:mutations:cds:multiple (human)
ClinVar
OMIM
CTD
PMID:270646, PMID:3480783, PMID:9551389, PMID:10528197, PMID:14566051, PMID:14615110, PMID:16621965, PMID:16762990, PMID:16882452, PMID:17089378, PMID:20513133, 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, PMID:16353080, PMID:20513133, PMID:17914026, PMID:20595690 RGD:11352810, RGD:11040768, RGD:11352768, RGD:11038684 NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
JBrowse link
G Cfb complement factor B susceptibility ISO DNA, protein:mutations:cds: c.858C>G, F286L, c.967A>G, K323E (human)
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations: :multiple
ClinVar Annotator: match by OMIM:612924
ClinVar
OMIM
CTD
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, PMID:17182750, PMID:20513133 RGD:7242707, RGD:11040768 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Cfh complement factor H susceptibility ISO
IMP
DNA:missense mutation
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations, missense mutations, splice-site mutation: :multiple
ClinVar Annotator: match by OMIM:235400
DNA:deletion:Cds:
DNA:SNPs,Haplotype::
ClinVar
OMIM
CTD
PMID:646435, PMID:8072530, PMID:9551389, PMID:9811382, PMID:9848786, PMID:10577907, PMID:10762557, PMID:11158219, PMID:11170895, PMID:11170896, PMID:11978762, PMID:12424708, PMID:12697737, PMID:14978182, PMID:15761120, PMID:15870199, PMID:16299065, PMID:16619239, PMID:17018561, PMID:17947292, PMID:18252712, PMID:18268093, PMID:18557729, PMID:19190809, PMID:19259132, PMID:19297022, PMID:21415311, PMID:21909106, PMID:22019782, PMID:22171659, PMID:22223606, PMID:22389686, PMID:22403278, PMID:22456601, PMID:23852337, PMID:24036949, PMID:24498017, PMID:25037630, PMID:25741868, PMID:25814826, PMID:25880396, PMID:26559391, PMID:28492532, PMID:10577907, PMID:9811382, PMID:23243267, PMID:20513133, PMID:17517971, PMID:17517971, PMID:17517971 RGD:1599886, RGD:11041172, RGD:11041162, RGD:11040768, RGD:7364995, RGD:7364995, RGD:7364995 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
JBrowse link
G Cfhr1 complement factor H-related 1 susceptibility ISO ClinVar Annotator: match by OMIM:235400
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to
DNA:deletion
ClinVar
CTD
OMIM
PMID:16998489, PMID:17367211, PMID:18006700, PMID:20843825, PMID:23243267 RGD:11041162 NCBI chr13:56,862,666...56,877,650
Ensembl chr13:56,836,994...56,877,650
JBrowse link
G Cfi complement factor I susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612923
ClinVar
CTD
OMIM
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, PMID:15173250 RGD:6906889 NCBI chr 2:235,264,149...235,305,779
Ensembl chr 2:235,264,219...235,305,781
JBrowse link
G Dgke diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: atypical hemolytic-uremic syndrome
ClinVar
CTD
PMID:23542698, PMID:24511134, PMID:24747643, PMID:25741868, PMID:29590070, PMID:30311386 NCBI chr10:76,375,981...76,408,224
Ensembl chr10:76,386,471...76,407,989
JBrowse link
G RGD1564614 similar to complement factor H-related protein susceptibility ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to
ClinVar
CTD
OMIM
PMID:16998489, PMID:17367211, PMID:18006700, PMID:20843825 NCBI chr13:56,889,669...56,958,549
Ensembl chr13:56,889,669...56,958,561
JBrowse link
G Thbd thrombomodulin susceptibility
no_association
severity
ISO ClinVar Annotator: match by OMIM:612926
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA:SNPs:5' utr, 3' utr:multiple
DNA:missense mutations:CDS:multiple
ClinVar
OMIM
CTD
PMID:7811989, PMID:10460600, PMID:11986219, PMID:12139752, PMID:17677000, PMID:19625716, PMID:23332921, PMID:24933457, PMID:25135378, PMID:25741868, PMID:28492532, PMID:19625716, PMID:19625716, PMID:20595690 RGD:11038691, RGD:11038691, RGD:11038684 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
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 chr 6:22,696,415...23,203,791
Ensembl chr 6:22,696,397...23,203,775
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 chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878
JBrowse link
G Derl3 derlin 3 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 ClinVar PMID:28492532 NCBI chr20:13,692,102...13,707,645
Ensembl chr20:13,704,314...13,706,205
JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1
ClinVar Annotator: match by term: Malignant rhabdoid tumor, somatic
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:609322
OMIM
ClinVar
PMID:9671307, PMID:10521299, PMID:10739763, PMID:12226744, PMID:18414213, PMID:18647326, PMID:19124645, PMID:21208904, PMID:24123847, PMID:24728327, PMID:25741868, PMID:28492532 NCBI chr20:13,679,955...13,702,821
Ensembl chr20:13,680,716...13,704,931
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 chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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 ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease OMIM
ClinVar
PMID:25741868, PMID:25894502, PMID:28492532, PMID:29137621 NCBI chr13:90,467,285...90,508,894
Ensembl chr13:90,467,265...90,508,932
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 ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant
ClinVar Annotator: match by term: Renal failure and sensorineural hearing loss
ClinVar Annotator: match by term: Alport syndrome, autosomal dominant
OMIM
ClinVar
PMID:1400291, PMID:7987301, PMID:7987396, PMID:9195222, PMID:9269635, PMID:11044206, PMID:11134255, PMID:11961012, PMID:12028435, PMID:14582039, PMID:14871398, PMID:15954103, PMID:17216251, PMID:20847057, PMID:21897443, PMID:22887978, PMID:24033266, PMID:24052634, PMID:24130771, PMID:24633401, PMID:24854265, PMID:25229338, PMID:25307543, PMID:25575550, PMID:25596306, PMID:25741868, PMID:26346198, PMID:26467025, PMID:26809805, PMID:26934356, PMID:27281700, PMID:27391953, PMID:27932480, PMID:28117080, PMID:28492532, PMID:28542346, PMID:28658201, PMID:29098738, PMID:29204651, PMID:29271581, PMID:29854973, PMID:30311386, PMID:30406062, PMID:30828794, PMID:31306228 NCBI chr 9:88,357,528...88,484,735
Ensembl chr 9:88,357,556...88,485,830
JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Alport syndrome, autosomal dominant
ClinVar Annotator: match by term: Alport syndrome 3, 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 chr 9:88,314,763...88,357,183
Ensembl chr 9:88,232,455...88,357,182
JBrowse link
G Myh9 myosin, heavy chain 9 ISO DNA:missense mutation:exon:4270G>C,D1424H (human) RGD PMID:12500226 RGD:6902925 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
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 ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11152759, PMID:12107202, PMID:12191970, PMID:12241879, PMID:15005845, PMID:17048213, PMID:25741868 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
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 DNA:missense mutations:exon:p.R176Q (527G>A), p.R179W (535C>T), p.R179Q (536G>A) (human)
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant
DNA:missense mutation:cds:526C>T,p.R176W (human)
ClinVar Annotator: match by OMIM:193100
ClinVar
OMIM
PMID:1353055, PMID:5173181, PMID:9024275, PMID:11062477, PMID:11409890, PMID:11737582, PMID:11805436, PMID:12050201, PMID:12130585, PMID:12711740, PMID:12851820, PMID:12874285, PMID:15182416, PMID:15590700, PMID:15628294, PMID:15836777, PMID:15885032, PMID:16436388, PMID:17227222, PMID:17452648, PMID:17623664, PMID:17992255, PMID:18682534, PMID:18982401, PMID:21880793, PMID:22419710, PMID:24033266, PMID:25445451, PMID:26186302, PMID:26467025, PMID:28492532, PMID:11062477, PMID:19655082 RGD:1598933, RGD:10044239 NCBI chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082
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 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:88,765,441...88,890,268
Ensembl chr 4:88,832,178...88,890,621
JBrowse link
G Angpt2 angiopoietin 2 IEP protein:increased expression:bile duct (rat) RGD PMID:16628643 RGD:2314213 NCBI chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195
JBrowse link
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12089381 NCBI chr 5:62,642,974...62,684,387
Ensembl chr 5:62,640,645...62,683,964
JBrowse link
G Bicc1 BicC family RNA binding protein 1 ISS MouseDO NCBI chr20:18,780,605...18,940,429
Ensembl chr20:18,780,605...18,940,408
JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25877301 NCBI chr 7:14,222,101...14,303,055
Ensembl chr 7:14,222,101...14,303,055
JBrowse link
G Bricd5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr10:13,839,599...13,841,132
Ensembl chr10:13,839,956...13,841,018
JBrowse link
G C9 complement C9 disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr 2:55,775,562...55,823,807
Ensembl chr 2:55,775,274...55,823,826
JBrowse link
G Caskin1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr10:13,853,107...13,874,254
Ensembl chr10:13,854,339...13,874,254
JBrowse link
G Cd14 CD14 molecule disease_progression ISO protein:altered localization:kidney,urine RGD PMID:20555320 RGD:7204130 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A IEP protein:decreased expression:kidney RGD PMID:17714589 RGD:2289666 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Cfb complement factor B disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:6,889,851...6,923,961
Ensembl chr14:6,889,856...6,900,733
JBrowse link
G Dnase1l2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr10:13,812,335...13,814,514
Ensembl chr10:13,812,707...13,814,304
JBrowse link
G Dspp dentin sialophosphoprotein ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:6,926,972...6,933,079
Ensembl chr14:6,926,976...6,933,070
JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr10:13,812,335...13,835,847
Ensembl chr10:13,815,293...13,826,945
JBrowse link
G Edn1 endothelin 1 ISO mRNA, protein:increased expression:kidney (human) RGD PMID:12629276 RGD:4144854 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
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 chr 4:89,183,180...89,281,282
Ensembl chr 4:89,183,768...89,281,222
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO protein: increased expression: kidney RGD PMID:16049073 RGD:7242198 NCBI chr 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
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 chr 1:225,096,558...225,116,384
Ensembl chr 1:225,096,598...225,116,378
JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr 9:81,555,914...81,560,931
Ensembl chr 9:81,559,605...81,560,594
JBrowse link
G Gprin3 GPRIN family member 3 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:89,690,678...89,778,302
Ensembl chr 4:89,693,280...89,695,928
JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO protein:increased expression:kidney: RGD PMID:12388382 RGD:7245969 NCBI chr10:31,813,819...31,860,934
Ensembl chr10:31,813,814...31,848,379
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 chr 4:89,078,670...89,169,150
Ensembl chr 4:89,078,711...89,169,146
JBrowse link
G Herc6 HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:88,606,851...88,649,424
Ensembl chr 4:88,607,518...88,649,216
JBrowse link
G Hsd17b11 hydroxysteroid (17-beta) dehydrogenase 11 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:7,054,724...7,104,567
Ensembl chr14:7,073,445...7,104,566
JBrowse link
G Hsd17b13 hydroxysteroid (17-beta) dehydrogenase 13 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:7,113,544...7,128,218
Ensembl chr14:7,113,544...7,128,218
JBrowse link
G Ibsp integrin-binding sialoprotein ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:6,801,200...6,813,987
Ensembl chr14:6,801,204...6,813,945
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:decreased expression:urine (human) RGD PMID:9090470 RGD:6909172 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Itga8 integrin subunit alpha 8 ISO mRNA:increased expression:kidney RGD PMID:18277079 RGD:7257723 NCBI chr17:79,321,893...79,676,927
Ensembl chr17:79,321,900...79,676,499
JBrowse link
G Klhl8 kelch-like family member 8 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:7,169,517...7,215,025
Ensembl chr14:7,169,519...7,215,025
JBrowse link
G Lrp2 LDL receptor related protein 2 IEP RGD PMID:11841627 RGD:1641842 NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551
JBrowse link
G Lrp5 LDL receptor related protein 5 susceptibility IAGP DNA:missense mutation:cds:multiple mutations (human) RGD PMID:25920554 RGD:11553546 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
JBrowse link
G Mepe matrix extracellular phosphoglycoprotein ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:6,782,011...6,793,561
Ensembl chr14:6,782,012...6,793,558
JBrowse link
G Mlst8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr10:13,839,250...13,845,001
Ensembl chr10:13,839,250...13,845,001
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:serum (human) RGD PMID:10644865 RGD:7207194 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:plasma (human) RGD PMID:10644865 RGD:7207194 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:23195001 RGD:7245504 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:kidney (mouse)
CTD Direct Evidence: marker/mechanism
CTD PMID:25877301, PMID:18356167 RGD:7207457 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
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 chr 4:89,149,314...89,152,511
Ensembl chr 4:89,149,317...89,151,184
JBrowse link
G Nphp3 nephrocystin 3 ISS MouseDO NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745
JBrowse link
G Nudt9 nudix hydrolase 9 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:7,036,809...7,054,739
Ensembl chr14:7,036,820...7,054,548
JBrowse link
G Pgp phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr10:13,836,105...13,838,731
Ensembl chr10:13,836,128...13,838,765
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 chr 8:23,167,974...23,170,215
Ensembl chr 8:23,167,974...23,170,209
JBrowse link
G Pitx2 paired-like homeodomain 2 IEP mRNA:increased expression:kidney RGD PMID:20926632 RGD:5131995 NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting severity ISO DNA:mutations:exons, intron:multiple
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.R3277C (mouse)
DNA:mutations:multiple
ClinVar
CTD
PMID:7581371, PMID:8004675, 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, PMID:8554072, PMID:23064367, PMID:21115670 RGD:1601399, RGD:7175280, RGD:7175279 NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008
JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel onset ISO DNA:mutations:multiple
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
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: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, PMID:22863349, PMID:21115670 RGD:7175273, RGD:7175279 NCBI chr14:6,602,004...6,645,257
Ensembl chr14:6,602,004...6,645,257
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 chr 9:26,164,969...26,736,704 JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:20210794 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
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 chr 4:88,694,395...88,721,374
Ensembl chr 4:88,694,583...88,718,533
JBrowse link
G Pyurf PIGY upstream reading frame ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:88,584,242...88,587,877
Ensembl chr 4:88,584,242...88,587,877
JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr10:13,894,271...13,898,578
Ensembl chr10:13,893,290...13,898,855
JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 IEP protein:increased expression, increased activity:kidney RGD PMID:16221708 RGD:1643017 NCBI chr10:73,824,200...73,865,503
Ensembl chr10:73,824,202...73,865,364
JBrowse link
G Serping1 serpin family G member 1 disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr 3:72,161,230...72,171,109
Ensembl chr 3:72,161,189...72,171,078
JBrowse link
G Slc34a1 solute carrier family 34 member 1 disease_progression IEP mRNA, protein:altered expression:renal cortex (rat) RGD PMID:11004225 RGD:7242933 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
G Snca synuclein alpha ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
JBrowse link
G Sparcl1 SPARC like 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:6,994,261...7,025,309
Ensembl chr14:6,994,190...7,025,308
JBrowse link
G Spp1 secreted phosphoprotein 1 IEP
ISO
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868, PMID:20926632 RGD:5131995 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO protein:increased expression:kidney, epithelial cell RGD PMID:16399078 RGD:7243978 NCBI chr 7:70,946,228...70,963,542
Ensembl chr 7:70,946,228...70,964,484
JBrowse link
G Tigd2 tigger transposable element derived 2 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:89,535,418...89,538,535
Ensembl chr 4:89,536,647...89,538,227
JBrowse link
G Traf7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr10:13,874,444...13,893,090
Ensembl chr10:13,874,456...13,892,997
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 PMID:25741868, PMID:28492532 NCBI chr 9:86,044,485...86,129,066
Ensembl chr 9:86,044,485...86,129,329
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 chr17:6,924,423...7,029,374
Ensembl chr17:6,935,860...7,029,240
JBrowse link
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1
ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant
ClinVar Annotator: match by term: Pseudohypoaldosteronism type 1 autosomal dominant
ClinVar
OMIM
PMID:9662404, PMID:11134129, PMID:11344206, PMID:12483305, PMID:12679457, PMID:12788847, PMID:14715854, PMID:15126534, PMID:16611713, PMID:16757525, PMID:16954160, PMID:19571553, PMID:20030467, PMID:24033266, PMID:25251996, PMID:25741868, PMID:27780983, PMID:28492532, PMID:30763456, PMID:9662404 RGD:1600930 NCBI chr19:34,408,275...34,761,003
Ensembl chr19:34,448,289...34,752,695
JBrowse link
G Stx16 syntaxin 16 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar NCBI chr 3:172,154,739...172,183,699
Ensembl chr 3:172,154,754...172,183,732
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 ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION
ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant
ClinVar Annotator: match by OMIM:614296
OMIM
ClinVar
PMID:10679252, PMID:11295831, PMID:12022290, PMID:15605410, PMID:16648378, PMID:17492394, PMID:18544103, PMID:19877185, PMID:20069065, PMID:20875904, PMID:21067485, PMID:21143470, PMID:21538838, PMID:21917145, PMID:22238590, PMID:24033266, PMID:24890733, PMID:25133958, PMID:25388789, PMID:25741868, PMID:26435059, PMID:26467025, PMID:26875006, PMID:27395765, PMID:28432734, PMID:28468959, PMID:28492532, PMID:29529044 NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
JBrowse link
autosomal recessive Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccr1 C-C motif chemokine receptor 1 ISO RGD PMID:15716328 RGD:5688157 NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Alport syndrome, autosomal recessive
ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
OMIM
ClinVar
PMID:1400291, PMID:7633417, PMID:7780062, PMID:7987301, PMID:7987396, PMID:8956999, PMID:9195222, PMID:9269635, PMID:9647515, PMID:11044206, PMID:11134255, PMID:11961012, PMID:12028435, PMID:14582039, PMID:14871398, PMID:15954103, PMID:17216251, PMID:17396119, PMID:18436078, PMID:20847057, PMID:21897443, PMID:22887978, PMID:23297803, PMID:23927549, PMID:23967202, PMID:24033266, PMID:24033287, PMID:24052634, PMID:24130771, PMID:24633401, PMID:24854265, PMID:24944784, PMID:25229338, PMID:25307543, PMID:25381091, PMID:25407002, PMID:25450602, PMID:25525159, PMID:25575550, PMID:25596306, PMID:25741868, PMID:25888712, PMID:26277931, PMID:26346198, PMID:26467025, PMID:26594346, PMID:26795916, PMID:26809805, PMID:27281700, PMID:27627812, PMID:27796712, PMID:27859054, PMID:27932480, PMID:28117080, PMID:28492532, PMID:28542346, PMID:28570636, PMID:28658201, PMID:29127259, PMID:29204651, PMID:29270492, PMID:29271581, PMID:29854973, PMID:29946535, PMID:30311386, PMID:30406062, PMID:30881523, PMID:31807928, PMID:32860008 NCBI chr 9:88,357,528...88,484,735
Ensembl chr 9:88,357,556...88,485,830
JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Alport syndrome, autosomal recessive
ClinVar Annotator: match by term: Alport syndrome type 2
OMIM
ClinVar
PMID:7987396, PMID:8787673, PMID:9195222, PMID:9792860, PMID:11961012, PMID:12028435, PMID:12325029, PMID:12631110, PMID:12748344, PMID:14582039, PMID:15618242, PMID:15954103, PMID:16338941, PMID:17216251, PMID:17396119, PMID:19129241, PMID:19675380, PMID:20029656, PMID:21196518, PMID:21897443, PMID:22887978, PMID:23349334, PMID:23967202, PMID:24033266, PMID:24033287, PMID:24052634, PMID:24522496, PMID:24633401, PMID:24854265, PMID:25229338, PMID:25307543, PMID:25381091, PMID:25514610, PMID:25525159, PMID:25596306, PMID:25741868, PMID:25755845, PMID:26467025, PMID:26809805, PMID:26934356, PMID:27281700, PMID:28117080, PMID:28492532, PMID:28542346, PMID:28632965, PMID:28968992, PMID:29098738, PMID:29801666, PMID:30311386 NCBI chr 9:88,314,763...88,357,183
Ensembl chr 9:88,232,455...88,357,182
JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISS OMIM:203780 MouseDO NCBI chr 6:26,585,713...26,600,265
Ensembl chr 6:26,587,443...26,599,511
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 ClinVar Annotator: match by term: Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
ClinVar Annotator: match by OMIM:613177
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:19836010, PMID:22829427, PMID:23440719, PMID:24033266, PMID:25741868, PMID:28492532, PMID:31115174 NCBI chr 1:84,118,046...84,152,095
Ensembl chr 1:84,118,046...84,150,084
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
ISS
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
OMIM:241520 | OMIM:613312
ClinVar
MouseDO
NCBI chr14:6,889,851...6,923,961
Ensembl chr14:6,889,856...6,900,733
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO
ISS
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
OMIM:241520 | OMIM:613312
ClinVar
MouseDO
PMID:24033266, PMID:28492532 NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
JBrowse link
autosomal recessive osteopetrosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Car2 carbonic anhydrase 2 ISO ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis
ClinVar Annotator: match by OMIM:259730
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:1301935, PMID:1542674, PMID:1928091, PMID:4624444, PMID:5041390, PMID:7627193, PMID:8127074, PMID:8128957, PMID:8834238, PMID:12566520, PMID:18060825, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 2:88,097,740...88,112,868
Ensembl chr 2:88,097,720...88,113,029
JBrowse link
autosomal recessive polycystic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme IMP
IEP
mRNA:increased expression:kidney (rat) RGD PMID:20229187, PMID:20798958 RGD:2325220, RGD:12879406 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Akt1 AKT serine/threonine kinase 1 IDA protein:increased serine phosphorylation:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
G Aqp1 aquaporin 1 IEP
ISO
mRNA, protein:increased expression, altered location:bile duct, epithelial cell
CTD Direct Evidence: marker/mechanism
CTD PMID:18988797, PMID:18988797 RGD:2307071 NCBI chr 4:85,551,503...85,563,683
Ensembl chr 4:85,551,502...85,569,360
JBrowse link
G Arl3 ADP ribosylation factor like GTPase 3 ISS OMIM:263200 MouseDO NCBI chr 1:266,287,015...266,333,099
Ensembl chr 1:266,287,017...266,333,105
JBrowse link
G Bicc1 BicC family RNA binding protein 1 ISS OMIM:263200 MouseDO NCBI chr20:18,780,605...18,940,429
Ensembl chr20:18,780,605...18,940,408
JBrowse link
G C3 complement C3 ISO mRNA, protein:increased expression, increased activity:kidney RGD PMID:17960140, PMID:17960140 RGD:7175542, RGD:7175542 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Cd14 CD14 molecule severity ISO RGD PMID:20555320, PMID:20555320 RGD:7204130, RGD:7204130 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Cdc25a cell division cycle 25A treatment IEP
IMP
ISO
protein:increased expression:cholangiocyte: RGD PMID:22155366, PMID:22155366, PMID:22155366, PMID:22155366 RGD:14700990, RGD:14700990, RGD:14700990, RGD:14700990 NCBI chr 8:117,953,223...117,971,552
Ensembl chr 8:117,953,444...117,971,519
JBrowse link
G Cftr CF transmembrane conductance regulator IEP
ISO
mRNA, protein:increased expression:bile duct epithelium
CTD Direct Evidence: marker/mechanism
CTD PMID:18988797, PMID:18988797 RGD:2307071 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
G Cyp4a1 cytochrome P450, family 4, subfamily a, polypeptide 1 IEP mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 5:134,492,734...134,507,158
Ensembl chr 5:134,492,756...134,507,154
JBrowse link
G Cyp4a2 cytochrome P450, family 4, subfamily a, polypeptide 2 IEP mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 5:134,196,910...134,207,888
Ensembl chr 5:134,196,912...134,207,863
JBrowse link
G Cyp4a3 cytochrome P450, family 4, subfamily a, polypeptide 3 IEP mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 5:134,468,666...134,484,851
Ensembl chr 5:134,469,270...134,484,839
JBrowse link
G Cyp4a8 cytochrome P450, family 4, subfamily a, polypeptide 8 IEP mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 5:133,978,953...134,008,255
Ensembl chr 5:133,978,954...134,008,255
JBrowse link
G Cys1 cystin 1 ISO
ISS
OMIM:263200 MouseDO PMID:11854326 RGD:7175541 NCBI chr 6:43,844,937...43,862,131
Ensembl chr 6:43,844,937...43,862,131
JBrowse link
G Dzip1l DAZ interacting zinc finger protein 1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:28530676 NCBI chr 8:107,875,659...107,916,298
Ensembl chr 8:107,875,991...107,916,294
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9486961 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Eln elastin IEP RGD PMID:21478483 RGD:7207865 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr 9:81,555,914...81,560,931
Ensembl chr 9:81,559,605...81,560,594
JBrowse link
G Ift88 intraflagellar transport 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8191288, PMID:8608416 NCBI chr15:37,690,417...37,786,855
Ensembl chr15:37,691,345...37,784,924
JBrowse link
G Mtor mechanistic target of rapamycin kinase IDA protein:increased serine phosphorylation:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:kidney (mouse) RGD PMID:3479800 RGD:7207453 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Nek1 NIMA-related kinase 1 ISS OMIM:263200 MouseDO NCBI chr16:32,321,010...32,439,421
Ensembl chr16:32,321,010...32,439,421
JBrowse link
G Nek8 NIMA-related kinase 8 ISS OMIM:263200 MouseDO NCBI chr10:65,404,489...65,439,059
Ensembl chr10:65,425,771...65,437,143
JBrowse link
G Nphp3 nephrocystin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12089381 NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745
JBrowse link
G Panx1 Pannexin 1 IEP RGD PMID:31630543 RGD:14995937 NCBI chr 8:13,567,185...13,606,040
Ensembl chr 8:13,566,739...13,606,040
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha IEP protein:increased expression:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO
ISS
ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease
OMIM:263200
ClinVar
MouseDO
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 chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008
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 chr14:6,602,004...6,645,257
Ensembl chr14:6,602,004...6,645,257
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin susceptibility
severity
ISO
IEP
IAGP
DNA:missense mutations, nonsense mutations: :multiple
ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease
ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I
DNA:missense mutations:cds:
DNA:deletion:exon:
ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT HEPATIC DISEASE
ClinVar Annotator: match by OMIM:263200
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1
protein:decreased expression:kidney
DNA:splice site mutation:intron:IVS35-2A>T
ClinVar
CTD
PMID:1189128, PMID:11898128, PMID:11919560, PMID:12506140, PMID:12846734, PMID:12874454, PMID:12925574, PMID:14741187, PMID:14971004, PMID:15108277, PMID:15108281, PMID:15696446, PMID:15698423, PMID:15706593, PMID:15805161, PMID:16133180, PMID:16199545, PMID:16523049, PMID:16632497, PMID:16876319, 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, PMID:11919560, PMID:12874454, PMID:17519956, PMID:14983006, PMID:11919560 RGD:70439, RGD:11062506, RGD:14700917, RGD:1642441, RGD:70439 NCBI chr 9:26,164,969...26,736,704 JBrowse link
G Pkhd1pck polycystic kidney and hepatic disease 1,polycystic kidney disease IAGP RGD PMID:11919560 RGD:70439
G Sclt1 sodium channel and clathrin linker 1 ISS OMIM:263200 MouseDO NCBI chr 2:128,523,376...128,675,668
Ensembl chr 2:128,523,636...128,675,408
JBrowse link
G Slc4a2 solute carrier family 4 member 2 IEP
ISO
mRNA, protein:increased expression, altered localization:cholangiocyte, basolateral plasma membrane
CTD Direct Evidence: marker/mechanism
CTD PMID:18988797, PMID:18988797 RGD:2307071 NCBI chr 4:7,264,677...7,282,355
Ensembl chr 4:7,264,683...7,281,223
JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18385429 NCBI chr 3:153,547,807...153,595,643
Ensembl chr 3:153,580,861...153,595,642
JBrowse link
G Tmem67 transmembrane protein 67 IAGP RGD PMID:30705305 RGD:14995942 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
G Tmem67wpk transmembrane protein 67; wpk mutant IAGP RGD PMID:30705305 RGD:14995942
G Tsc1 TSC complex subunit 1 ISS OMIM:263200 MouseDO NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
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 PMID:25741868 NCBI chr 4:157,822,838...157,829,291
Ensembl chr 4:157,822,840...157,829,241
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism type 1 autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1
ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive
ClinVar
OMIM
PMID:1506904, PMID:8589714, PMID:10510337, PMID:10523338, PMID:10586178, PMID:11978598, PMID:15734793, PMID:16249274, PMID:19462466, PMID:20194130, PMID:21889619, PMID:21917531, PMID:23149595, PMID:24033266, PMID:25741868, PMID:26668308, PMID:28492532 NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049
JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism type 1 autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1
ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive
ClinVar
OMIM
PMID:8589714, PMID:9118951, PMID:9576123, PMID:9674649, PMID:10523338, PMID:11439319, PMID:15661075, PMID:16207733, PMID:18507830, PMID:19017867, PMID:19462466, PMID:21504729, PMID:24033266, PMID:25333069, PMID:25741868, PMID:25900089, PMID:26038974, PMID:26467025, PMID:28492532 NCBI chr 1:191,829,547...191,883,991
Ensembl chr 1:191,829,555...191,884,298
JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism type 1 autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1
ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive
ClinVar
OMIM
PMID:8640238, PMID:10391210, PMID:11231969, PMID:12473862, PMID:15198480, PMID:17460608, PMID:17634077, PMID:18507830, PMID:19462466, PMID:21956615, PMID:22995991, PMID:23149595, PMID:24033266, PMID:24882431, PMID:25741868, PMID:25900089, PMID:26135620, PMID:26467025, PMID:26537344, PMID:27884173, PMID:28492532, PMID:28497567, PMID:29229744, PMID:31655555 NCBI chr 1:191,704,397...191,738,271
Ensembl chr 1:191,704,311...191,738,268
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive ClinVar NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
Azotemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gh1 growth hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14728886 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6338847 NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
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 chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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 subunit beta ISO Bartter syndrome with sensorineural deafness, OMIM:602522, DNA:point mutation:A1T, R8W, DNA:deletion:exon
ClinVar Annotator: match by term: Bartter's syndrome
ClinVar PMID:11687798 RGD:1600603 NCBI chr 5:126,071,849...126,080,647
Ensembl chr 5:126,071,846...126,080,698
JBrowse link
G Clcnkb chloride voltage-gated channel Kb ISO CTD Direct Evidence: marker/mechanism CTD PMID:10561751 NCBI chr 5:159,950,384...159,973,576
Ensembl chr 5:159,950,392...159,962,676
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 chr 8:33,490,280...33,519,127
Ensembl chr 8:33,514,042...33,518,165
JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:929154, PMID:3519017, PMID:15976003 NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO antenatal Bartter syndrome type 1,OMIM:601678;DNA:point mutation:exon:D648N, V272F
CTD Direct Evidence: marker/mechanism
CTD PMID:10561751, PMID:8640224 RGD:1624188 NCBI chr 3:117,421,531...117,498,372
Ensembl chr 3:117,421,604...117,498,367
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 ClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal
ClinVar Annotator: match by OMIM:601678
OMIM
ClinVar
PMID:8640224, PMID:9355073, PMID:9585600, PMID:12761241, PMID:15167446, PMID:18391953, PMID:19096086, PMID:19513753, PMID:19602640, PMID:20219833, PMID:21157372, PMID:21209010, PMID:23897314, PMID:24033266, PMID:24253496, PMID:24550759, PMID:25326637, PMID:25741868, PMID:26467025, PMID:26963954, PMID:28000888, PMID:28095294, PMID:28492532, PMID:28893421, PMID:30113482 NCBI chr 3:117,421,531...117,498,372
Ensembl chr 3:117,421,604...117,498,367
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 ClinVar Annotator: match by term: Bartter syndrome, type 2, antenatal
ClinVar Annotator: match by OMIM:241200
OMIM
ClinVar
PMID:8841184, PMID:9002665, PMID:9015377, PMID:9580661, PMID:9727001, PMID:10049979, PMID:11318951, PMID:12911542, PMID:18391953, PMID:19096086, PMID:19602640, PMID:20699659, PMID:22245519, PMID:25741868, PMID:26467025, PMID:28492532, PMID:32590952 NCBI chr 8:33,490,280...33,519,127
Ensembl chr 8:33,514,042...33,518,165
JBrowse link
Bartter disease type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Bartter syndrome type 3 ClinVar PMID:25741868 NCBI chr 5:159,931,497...159,946,483
Ensembl chr 5:159,931,511...159,946,446
JBrowse link
G Clcnkb chloride voltage-gated channel Kb ISO ClinVar Annotator: match by term: Bartter syndrome type 3
ClinVar Annotator: match by OMIM:607364
OMIM
ClinVar
PMID:9326936, PMID:10831588, PMID:10906158, PMID:11102542, PMID:11734858, PMID:17185149, PMID:21631963, PMID:23991001, PMID:24033266, PMID:24058621, PMID:24830959, PMID:25326637, PMID:25525159, PMID:25741868, PMID:25810436, PMID:26467025, PMID:28288174, PMID:28555925, PMID:32576985 NCBI chr 5:159,950,384...159,973,576
Ensembl chr 5:159,950,392...159,962,676
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 subunit beta ISO ClinVar Annotator: match by term: Bartter disease type 4a
ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS
ClinVar Annotator: match by OMIM:602522
OMIM
ClinVar
PMID:9463315, PMID:11687798, PMID:11734858, PMID:12574213, PMID:16328537, PMID:16572343, PMID:16583241, PMID:16773427, PMID:16935888, PMID:17954364, PMID:18776122, PMID:19025784, PMID:19096086, PMID:19646679, PMID:21269598, PMID:21541222, PMID:21865213, PMID:23967202, PMID:24033266, PMID:24902942, PMID:25741868, PMID:26467025, PMID:26537508, PMID:28012523, PMID:28492532, PMID:29254190, PMID:30174009 NCBI chr 5:126,071,849...126,080,647
Ensembl chr 5:126,071,846...126,080,698
JBrowse link
Bartter disease type 4b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by OMIM:613090
ClinVar Annotator: match by term: Bartter syndrome, type 4b
ClinVar
OMIM
PMID:15044642, PMID:18310267, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 5:159,931,497...159,946,483
Ensembl chr 5:159,931,511...159,946,446
JBrowse link
G Clcnkb chloride voltage-gated channel Kb ISO OMIM NCBI chr 5:159,950,384...159,973,576
Ensembl chr 5:159,950,392...159,962,676
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 ClinVar Annotator: match by term: Bartter syndrome, type 5, antenatal, transient ClinVar
OMIM
PMID:27120771 NCBI chr 5:33,174,539...33,182,715
Ensembl chr 5:33,174,542...33,182,715
JBrowse link
Bartter Syndrome Type 3, with Hypocalciuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnkb chloride voltage-gated channel Kb ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria
ClinVar PMID:15531551, PMID:16902263, PMID:20810575, PMID:26920127, PMID:28492532 NCBI chr 5:159,950,384...159,973,576
Ensembl chr 5:159,950,392...159,962,676
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 ClinVar Annotator: match by term: Benign familial hematuria
ClinVar Annotator: match by OMIM:141200
ClinVar
OMIM
PMID:11961012, PMID:25307543, PMID:25741868, PMID:19357112 RGD:7242047 NCBI chr 9:88,357,528...88,484,735
Ensembl chr 9:88,357,556...88,485,830
JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Benign familial hematuria
ClinVar Annotator: match by synonym: THIN MEMBRANE NEPHROPATHY
ClinVar
OMIM
PMID:8787673, PMID:9792860, PMID:11961012, PMID:12325029, PMID:14582039, PMID:16338941, PMID:17216251, PMID:24052634, PMID:25525159, PMID:25741868, PMID:26467025, PMID:26809805, PMID:28492532, PMID:30311386, PMID:19357112 RGD:7242047 NCBI chr 9:88,314,763...88,357,183
Ensembl chr 9:88,232,455...88,357,182
JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Familial hematuria ClinVar NCBI chr  X:112,769,595...112,983,720
Ensembl chr  X:112,769,645...112,983,685
JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Familial hematuria ClinVar NCBI chr 3:175,553,042...175,601,112
Ensembl chr 3:175,553,045...175,601,127
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 ClinVar Annotator: match by term: Bifid nose with or without anorectal and renal anomalies
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:608980
OMIM
ClinVar
CTD
PMID:11822703, PMID:19732862, PMID:23221805, PMID:25741868 NCBI chr 5:101,018,009...101,166,794
Ensembl chr 5:101,020,448...101,166,651
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 chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
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 chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
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 chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
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 chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
JBrowse link
G Pmf1 polyamine-modulated factor 1 disease_progression ISO RGD PMID:22682992 RGD:30296649 NCBI chr 2:187,751,770...187,771,933
Ensembl chr 2:187,751,776...187,771,865
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 CTD PMID:22077972, PMID:17922784 RGD:5133442 NCBI chr17:63,990,599...64,463,222
Ensembl chr17:63,990,599...63,994,169
JBrowse link
G Fgf2 fibroblast growth factor 2 IEP associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:urinary bladder RGD PMID:17763394 RGD:2315846 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:2055425 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Myocd myocardin ISS MouseDO NCBI chr10:51,682,053...51,781,458
Ensembl chr10:51,683,540...51,778,986
JBrowse link
G Ngf nerve growth factor ISO associated with Diabetes Mellitus, Experimental RGD PMID:15448108 RGD:7242800 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
G Rassf1 Ras association domain family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23527093 NCBI chr 8:116,307,149...116,318,289
Ensembl chr 8:116,307,141...116,318,289
JBrowse link
G Rgs2 regulator of G-protein signaling 2 treatment IEP associated with hypertension RGD PMID:19689474 RGD:9684972 NCBI chr13:60,846,458...60,849,061
Ensembl chr13:60,846,308...60,849,094
JBrowse link
G Rgs3 regulator of G-protein signaling 3 treatment IEP associated with hypertension RGD PMID:19689474 RGD:9684972 NCBI chr 5:78,429,017...78,567,281
Ensembl chr 5:78,428,669...78,567,288
JBrowse link
G Rgs4 regulator of G-protein signaling 4 treatment IEP associated with hypertension RGD PMID:19689474 RGD:9684972 NCBI chr13:88,054,817...88,061,108
Ensembl chr13:88,054,817...88,061,108
JBrowse link
G Slc18a3 solute carrier family 18 member A3 IEP associated with Spinal Cord Injuries;protein:decreased expression:axon terminus RGD PMID:17229408 RGD:5686699 NCBI chr16:8,682,668...8,685,529
Ensembl chr16:8,682,669...8,685,529
JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23527093 NCBI chr 7:23,543,125...23,594,170
Ensembl chr 7:23,544,215...23,594,133
JBrowse link
G Vip vasoactive intestinal peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:18299998 NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582
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 chr14:113,202,382...113,294,993
Ensembl chr14:113,202,419...113,295,014
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 ClinVar Annotator: match by term: Acontractile detrusor
ClinVar Annotator: match by term: CHRNA3-related condition
ClinVar
OMIM
PMID:25741868, PMID:31708116 NCBI chr 8:59,594,007...59,607,122
Ensembl chr 8:59,592,403...59,607,275
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 chr11:87,381,638...87,397,849
Ensembl chr11:87,381,899...87,397,498
JBrowse link
G Tp63 tumor protein p63 ISS OMIM:600057 MouseDO NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
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 chr 9:71,443,784...71,445,541
Ensembl chr 9:71,443,588...71,445,739
JBrowse link
G Isl1 ISL LIM homeobox 1 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr 2:48,488,911...48,501,217
Ensembl chr 2:48,487,736...48,501,436
JBrowse link
G Lrp10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr15:33,107,706...33,114,831
Ensembl chr15:33,108,671...33,114,829
JBrowse link
G Tp63 tumor protein p63 ISO DNA:deletion, insertion, SNPs: :multiple RGD PMID:23284286 RGD:11568641 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
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 chr 9:82,053,581...82,066,047
Ensembl chr 9:82,053,581...82,066,047
JBrowse link
G Wnt11 Wnt family member 11 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr 1:163,794,136...163,813,756
Ensembl chr 1:163,797,660...163,813,756
JBrowse link
G Wnt3 Wnt family member 3 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr10:91,830,709...91,874,907
Ensembl chr10:91,830,654...91,874,793
JBrowse link
G Wnt6 Wnt family member 6 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr 9:82,033,543...82,047,172
Ensembl chr 9:82,033,543...82,047,166
JBrowse link
G Wnt7a Wnt family member 7A ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr 4:122,994,425...123,040,609
Ensembl chr 4:122,994,425...123,040,609
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 IMP RGD PMID:20886573 RGD:5688368 NCBI chr15:43,296,997...43,398,314
Ensembl chr15:43,298,794...43,392,451
JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment IEP RGD PMID:23313213 RGD:7257549 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col3a1 collagen type III alpha 1 chain treatment IEP RGD PMID:23313213 RGD:7257549 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO RGD PMID:21356374 RGD:7257709 NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
JBrowse link
G Eln elastin treatment IEP RGD PMID:23313213 RGD:7257549 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha IEP protein:increased expression:urinary bladder (rat) RGD PMID:12118092 RGD:9068887 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A IEP mRNA:increased expression:urinary bladder RGD PMID:23344575 RGD:7257660 NCBI chr15:56,666,152...56,732,469
Ensembl chr15:56,666,012...56,735,382
JBrowse link
G Mmp7 matrix metallopeptidase 7 treatment IEP RGD PMID:23313213 RGD:7257549 NCBI chr 8:5,893,253...5,900,965
Ensembl chr 8:5,893,249...5,901,049
JBrowse link
G Ngf nerve growth factor treatment IDA RGD PMID:22795377 RGD:7242774 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
G Nos3 nitric oxide synthase 3 IEP mRNA:decreased expression:urinary bladder RGD PMID:21256554 RGD:4891960 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Optn optineurin IEP protein:increased expression:urinary bladder: RGD PMID:16361812 RGD:7775024 NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15311063 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Sod2 superoxide dismutase 2 IEP RGD PMID:21060756 RGD:7175518 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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 chr 5:73,494,582...73,498,012
Ensembl chr 5:73,496,027...73,497,609
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma ClinVar