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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
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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: non-neoplastic urinary tract disease;   urinary tract disease;   urinary tract diseases;   urologic disease;   urologic diseases;   urological disease;   urological diseases
 primary_id: MESH:D014570
 xref: NCI:C27599
For additional species annotation, visit the Alliance of Genome Resources.



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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 chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
JBrowse link
G Lzts2 leucine zipper tumor suppressor 2 ISS MouseDO NCBI chr 1:243,876,665...243,888,489
Ensembl chr 1:243,880,022...243,888,423
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 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291
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 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859
JBrowse link
acute cystitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lcn2 lipocalin 2 disease_progression ISO associated with urinary tract infection; RGD PMID:25398327 RGD:126779559 NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
JBrowse link
G Ace angiotensin I converting enzyme treatment IMP RGD PMID:24502693 RGD:11039053 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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 chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
JBrowse link
G Afm afamin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr14:17,531,026...17,563,868
Ensembl chr14:17,531,024...17,563,870
JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO RGD PMID:21811803 RGD:7243868 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Ahsg alpha-2-HS-glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr11:78,117,903...78,145,956 JBrowse link
G Alad aminolevulinate dehydratase IEP protein:decreased activity:kidney (rat) RGD PMID:19484701 RGD:4144146 NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:2048579 PMID:21259293 PMID:24361871 PMID:28885000 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
JBrowse link
G Alox5 arachidonate 5-lipoxygenase IMP RGD PMID:19194548 RGD:2317536 NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
JBrowse link
G Ambp alpha-1-microglobulin/bikunin precursor ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD
PMID:8963945 PMID:28885000 PMID:8963945 RGD:6904218 NCBI chr 5:76,568,094...76,578,416
Ensembl chr 5:76,568,094...76,578,331
JBrowse link
G Amn amnion associated transmembrane protein ISO CTD Direct Evidence: therapeutic CTD PMID:20514524 NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815
JBrowse link
G Anxa1 annexin A1 treatment IDA RGD PMID:22101490 RGD:7421583 NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
JBrowse link
G Ar androgen receptor IEP RGD PMID:24503548 RGD:11570523 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
JBrowse link
G Arg1 arginase 1 IEP mRNA:decreased expression:renal tubule (rat) RGD PMID:12371970 RGD:631989 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
JBrowse link
G Arg2 arginase 2 IEP mRNA:decreased expression:renal tubule (rat) RGD PMID:12371970 RGD:631989 NCBI chr 6:97,936,002...97,961,379
Ensembl chr 6:97,936,002...97,961,378
JBrowse link
G Atp5f1b ATP synthase F1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25666834 NCBI chr 7:515,454...521,858
Ensembl chr 7:515,460...567,273
JBrowse link
G Avp arginine vasopressin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2139164 NCBI chr 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425
JBrowse link
G Avpr1a arginine vasopressin receptor 1A IMP RGD PMID:17347933 RGD:2300348 NCBI chr 7:58,114,306...58,118,230
Ensembl chr 7:58,114,284...58,122,215
JBrowse link
G B2m beta-2 microglobulin IEP
ISO
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:2689182 PMID:22005293 PMID:28885000 PMID:19536607 RGD:6482685 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
JBrowse link
G Bad BCL2-associated agonist of cell death treatment IEP RGD PMID:20037173 RGD:10053672 NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:20623750 PMID:20037173 RGD:10053672 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP protein:increased expression:kidney RGD PMID:20037173 RGD:10053672 NCBI chr13:22,689,783...22,853,920 JBrowse link
G Bcl2l1 Bcl2-like 1 IEP protein:increased expression:kidney RGD PMID:20037173 RGD:10053672 NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24975837 NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G Capn1 calpain 1 treatment IEP associated with Rhabdomyolysis; RGD PMID:24158126 RGD:13792553 NCBI chr 1:203,275,912...203,300,848
Ensembl chr 1:203,277,344...203,300,177
JBrowse link
G Casp1 caspase 1 IMP RGD PMID:16557226 RGD:2293624 NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO protein:increased expression:kidney RGD PMID:22778179 RGD:7247739 NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO RGD PMID:20482449 RGD:6906908 NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased secretion:serum (mouse) RGD PMID:19508392 RGD:4889990 NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26055553 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Cct7 chaperonin containing TCP1 subunit 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31825490 NCBI chr 4:117,989,232...118,006,478
Ensembl chr 4:117,989,232...118,006,580
JBrowse link
G Cd44 CD44 molecule (Indian blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B IEP protein:decreased expression:kidney RGD PMID:16557226 RGD:2293624 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
JBrowse link
G Clu clusterin IEP
ISO
protein:increased expression:urine
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:20118187 PMID:20623750 PMID:22005293 PMID:23052191 PMID:24361871 More... RGD:7245501 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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 chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Csf1 colony stimulating factor 1 ISO RGD PMID:23143303 RGD:7257565 NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO RGD PMID:23143303 RGD:7257565 NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
JBrowse link
G Cst3 cystatin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22005293 PMID:28885000 NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 ISO mRNA:increased expression:kidney, liver, spleen RGD PMID:21677145 RGD:7175314 NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 IDA RGD PMID:6223803 RGD:2307326 NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
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 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
JBrowse link
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19814645 NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
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 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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 chr12:9,256,159...9,285,020
Ensembl chr12:9,254,475...9,285,030
JBrowse link
G Ddit3 DNA-damage inducible transcript 3 IEP Protein:increased expression:renal tubule epithelium RGD PMID:15476864 RGD:1599736 NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
JBrowse link
G Ece1 endothelin converting enzyme 1 IMP
IEP
RGD PMID:11043448 PMID:10073607 RGD:7244180, RGD:7244185 NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
JBrowse link
G Edn1 endothelin 1 ISO mRNA, protein:increased expression:kidney (mouse)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:9788586 PMID:19967049 RGD:4144852 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Egf epidermal growth factor ISO
IEP
mRNA:decreased expression:kidney RGD PMID:20482449 PMID:11340354 RGD:6906908, RGD:10395241 NCBI chr 2:218,219,408...218,302,370
Ensembl chr 2:218,219,415...218,302,064
JBrowse link
G Egfr epidermal growth factor receptor IEP
ISO
mRNA:increased expression:kidney
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:14638913 PMID:11340354 RGD:10395241 NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Egln1 egl-9 family hypoxia-inducible factor 1 IEP mRNA, protein:decreased expression:kidney RGD PMID:19349364 RGD:11252083 NCBI chr19:52,867,914...52,907,169 JBrowse link
G Egln3 egl-9 family hypoxia-inducible factor 3 IEP mRNA, protein:decreased expression:kidney RGD PMID:19349364 RGD:11252083 NCBI chr 6:71,650,297...71,675,766
Ensembl chr 6:71,650,297...71,675,766
JBrowse link
G Epas1 endothelial PAS domain protein 1 treatment IDA RGD PMID:16762988 RGD:10395386 NCBI chr 6:7,790,236...7,871,246
Ensembl chr 6:7,790,647...7,871,228
JBrowse link
G Ephx2 epoxide hydrolase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:26165641 NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615
JBrowse link
G Epo erythropoietin treatment ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:21847101 PMID:24561306 PMID:22209169 PMID:22235348 RGD:10400913, RGD:11041660 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:renal tubule (rat) RGD PMID:21374789 RGD:8663469 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Fga fibrinogen alpha chain IEP mRNA:increased expression:kidney (rat) RGD PMID:15805072 RGD:9685024 NCBI chr 2:168,365,364...168,381,533
Ensembl chr 2:168,374,120...168,381,528
JBrowse link
G Fis1 fission, mitochondrial 1 IEP protein:decreased expression:kidney (rat) RGD PMID:26480480 RGD:12910862 NCBI chr12:19,708,558...19,723,392
Ensembl chr12:19,708,558...19,723,377
JBrowse link
G Fn1 fibronectin 1 IEP protein:increased expression:kidney RGD PMID:12884040 PMID:11768240 RGD:7205684, RGD:729934 NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
JBrowse link
G Fstl1 follistatin-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20861081 NCBI chr11:62,895,391...62,948,581
Ensembl chr11:62,779,783...62,948,677
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:602954 PMID:734759 PMID:4794122 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
G Gas6 growth arrest specific 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19564549 NCBI chr16:76,045,430...76,075,904
Ensembl chr16:76,045,426...76,075,904
JBrowse link
G Gatm glycine amidinotransferase IEP protein:decreased activity:kidney (rat) RGD PMID:2752493 RGD:1599823 NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129
JBrowse link
G Gc GC, vitamin D binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
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
RGD
PMID:20030531 PMID:20030531 PMID:20030531 RGD:9685736, RGD:9685736 NCBI chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869
JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO RGD PMID:19625378 RGD:7242430 NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 IEP protein:decreased activity:kidney (rat) RGD PMID:23924727 RGD:13506245 NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994
JBrowse link
G Gpnmb glycoprotein nmb ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chr 4:78,010,247...78,031,491
Ensembl chr 4:78,010,197...78,049,367
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:22785175 NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646
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 chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
JBrowse link
G Gsta1 glutathione S-transferase alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 9:23,703,476...23,720,121
Ensembl chr 9:23,703,477...23,720,121
JBrowse link
G Gstm2 glutathione S-transferase mu 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20623750 NCBI chr 2:195,624,015...195,628,774 JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:20623750 PMID:20798258 RGD:6903954 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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
RGD
PMID:20118187 PMID:21259293 PMID:21835770 PMID:22005293 PMID:23052191 More... RGD:7244370, RGD:7245495, RGD:7245472 NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
JBrowse link
G Hbegf heparin-binding EGF-like growth factor IEP
ISO
mRNA:increased expression:kidney
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:7635938 PMID:11340354 RGD:10395241 NCBI chr18:28,106,284...28,116,167
Ensembl chr18:28,105,760...28,116,441
JBrowse link
G Hdac2 histone deacetylase 2 treatment ISO associated with sepsis; RGD PMID:22933299 RGD:9590257 NCBI chr20:40,548,250...40,571,609
Ensembl chr20:40,548,250...40,571,609
JBrowse link
G Hdac3 histone deacetylase 3 IEP RGD PMID:21416250 RGD:10047111 NCBI chr18:29,770,637...29,789,850
Ensembl chr18:29,770,636...29,793,856
JBrowse link
G Hdac5 histone deacetylase 5 treatment ISO
IEP
associated with sepsis; RGD PMID:22933299 PMID:21416250 RGD:9590257, RGD:10047111 NCBI chr10:87,152,978...87,187,921
Ensembl chr10:87,152,978...87,188,235
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 chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192
JBrowse link
G Hexb hexosaminidase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:22005293 NCBI chr 2:28,483,997...28,504,165
Ensembl chr 2:28,484,012...28,504,223
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 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO associated with Sepsis RGD PMID:16557230 RGD:5508471 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
JBrowse link
G Hmox1 heme oxygenase 1 treatment IMP
ISO
associated with Sepsis
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:21048024 PMID:23807243 RGD:10755583 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Hp haptoglobin IEP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:28885000 PMID:19270397 RGD:11041863 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
JBrowse link
G Hpx hemopexin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 1:159,932,819...159,940,327
Ensembl chr 1:159,932,755...159,940,328
JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12690470 PMID:19546256
G Hspa8 heat shock protein family A (Hsp70) member 8 IEP protein:increased expression:kidney, lysosome (rat) RGD PMID:14966137 RGD:7242786 NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259
JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment IEP RGD PMID:22659586 RGD:7175102 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:7540432 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
JBrowse link
G Igfbp1 insulin-like growth factor binding protein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:7540432 NCBI chr14:82,047,415...82,052,482
Ensembl chr14:82,047,415...82,052,482
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 chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il18 interleukin 18 ISO RGD PMID:11342578 RGD:6893450 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:21716595 RGD:6907069 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il20 interleukin 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18496552 NCBI chr13:42,380,981...42,384,625
Ensembl chr13:42,380,981...42,384,625
JBrowse link
G Il6 interleukin 6 ISO associated with Acute Lung Injury;protein:increased expression:plasma
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:21570986 PMID:18074478 RGD:5128661 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12243603 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
JBrowse link
G Jak2 Janus kinase 2 treatment ISO associated with Carcinoma, Lewis Lung, human cells in mouse model RGD PMID:31250048 RGD:149735351 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
JBrowse link
G Klk1 kallikrein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18227104 NCBI chr 1:94,642,722...94,646,714
Ensembl chr 1:94,642,687...94,646,754
JBrowse link
G Kng2 kininogen 2 ISO CTD Direct Evidence: therapeutic CTD PMID:513486 PMID:3015452 NCBI chr11:77,913,876...77,936,247 JBrowse link
G Lcn2 lipocalin 2 IEP
ISO
protein:increased expression:urine
associated with open cardiac surgeries;protein:increased expression:urine:
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:20623750 PMID:22005293 PMID:23052191 PMID:27888128 PMID:28885000 More... RGD:7244370, RGD:126781714, RGD:125973912 NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
JBrowse link
G Lgals3 galectin 3 IEP mRNA:increased expression:kidney RGD PMID:10980121 RGD:9685228 NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025
JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29286200 NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
JBrowse link
G Mb myoglobin ISO
IDA
protein: increased expression: serum RGD PMID:23497406 PMID:9822635 RGD:7244253, RGD:7244259 NCBI chr 7:108,759,903...108,767,134
Ensembl chr 7:108,759,904...108,767,383
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase IEP protein:increased expression:renal parenchyma (rat) RGD PMID:17940345 RGD:2317469 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
JBrowse link
G Mfn1 mitofusin 1 IEP protein:decreased expression:kidney (rat) RGD PMID:26480480 RGD:12910862 NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640
JBrowse link
G Mir10a microRNA 10a ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr10:81,283,171...81,283,280
Ensembl chr10:81,283,171...81,283,280
JBrowse link
G Mir122 microRNA 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr18:58,758,703...58,758,787 JBrowse link
G Mir140 microRNA 140 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr19:35,465,577...35,465,675
Ensembl chr19:35,465,577...35,465,675
JBrowse link
G Mir143 microRNA 143 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr18:55,101,006...55,101,110
Ensembl chr18:55,101,006...55,101,110
JBrowse link
G Mir146b microRNA 146b ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 1:245,203,438...245,203,525
Ensembl chr 1:245,203,438...245,203,525
JBrowse link
G Mir148a microRNA 148a ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 4:80,333,762...80,333,858
Ensembl chr 4:80,333,762...80,333,858
JBrowse link
G Mir151 microRNA 151 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 7:105,172,377...105,172,473 JBrowse link
G Mir152 microRNA 152 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32583487 NCBI chr10:81,832,936...81,833,020
Ensembl chr10:81,832,936...81,833,020
JBrowse link
G Mir192 microRNA 192 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055
JBrowse link
G Mir23a microRNA 23a ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr19:23,954,997...23,955,071
Ensembl chr19:23,954,997...23,955,071
JBrowse link
G Mir25 microRNA 25 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr12:17,042,932...17,043,015
Ensembl chr12:17,042,932...17,043,015
JBrowse link
G Mir26a microRNA 26a EXP CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 8:118,755,289...118,755,378
Ensembl chr 8:118,755,289...118,755,378
JBrowse link
G Mir30a microRNA 30a ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 9:25,737,600...25,737,670
Ensembl chr 9:25,737,600...25,737,670
JBrowse link
G Mir30d microRNA 30d ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 7:100,136,391...100,136,472
Ensembl chr 7:100,136,391...100,136,472
JBrowse link
G Mir3473 microRNA 3473 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr13:39,499,246...39,499,312
Ensembl chr13:39,499,246...39,499,312
JBrowse link
G Mir486 microRNA 486 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439
G Mir99a microRNA 99a ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr11:16,200,443...16,200,523
Ensembl chr11:16,200,443...16,200,523
JBrowse link
G Mirlet7i microRNA let-7i ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 7:58,642,485...58,642,569
Ensembl chr 7:58,642,480...58,642,571
JBrowse link
G Mpo myeloperoxidase ISO
IDA
DNA:haplotye: :
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:20623750 PMID:22739978 PMID:19793022 RGD:6909168, RGD:6909185 NCBI chr10:72,594,458...72,608,862
Ensembl chr10:72,594,661...72,604,819
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17387702 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Mtor mechanistic target of rapamycin kinase IMP RGD PMID:23022334 RGD:7245507 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
JBrowse link
G Muc20 mucin 20, cell surface associated ISO RGD PMID:14565953 RGD:7364790 NCBI chr11:67,987,729...68,003,997
Ensembl chr11:67,987,800...68,001,495
JBrowse link
G Mug1 murinoglobulin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 4:155,076,270...155,130,051
Ensembl chr 4:155,076,312...155,130,051
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor susceptibility ISO protein:decreased phosphorylation:kidney (mouse) RGD PMID:23228991 RGD:7207407 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
JBrowse link
G Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 IEP RGD PMID:22160772 RGD:13801199 NCBI chr 1:243,408,659...243,413,701
Ensembl chr 1:243,408,619...243,413,817
JBrowse link
G Nes nestin IEP RGD PMID:24503548 RGD:11570523 NCBI chr 2:173,437,867...173,447,777
Ensembl chr 2:173,438,734...173,447,777
JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 treatment IEP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:24958931 PMID:24291173 RGD:10412697 NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29286200 NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
JBrowse link
G Nos1 nitric oxide synthase 1 IEP RGD PMID:14531809 RGD:13825139 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9810145 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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
RGD
PMID:9788586 PMID:28947737 RGD:13450947 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Nppa natriuretic peptide A IEP
ISO
mRNA:increased expression:kidney
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
RGD
PMID:1825077 PMID:2948068 PMID:19298916 PMID:22209992 RGD:7247715 NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
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 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:26723870 PMID:28230744 RGD:13440091 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
JBrowse link
G Ocln occludin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19766176 NCBI chr 2:31,657,217...31,707,466
Ensembl chr 2:31,657,220...31,764,150
JBrowse link
G Orm1 orosomucoid 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 5:76,766,637...76,776,149
Ensembl chr 5:76,772,941...76,776,154
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO RGD PMID:21884784 RGD:5510015 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel IEP protein:altered localization RGD PMID:12089381 RGD:7175293 NCBI chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825
JBrowse link
G Plat plasminogen activator, tissue type ISO protein:increased expression:plasma (human) RGD PMID:9767551 RGD:11541071 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
JBrowse link
G Plg plasminogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:17216604 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma treatment IDA
ISO
CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD
PMID:20623750 PMID:24011919 PMID:24433871 PMID:17494862 RGD:8553020 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO associated with Endotoxemia; mRNA:decreased expression:kidney (mouse) RGD PMID:21881206 RGD:7242026 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa treatment ISO RGD PMID:19092124 RGD:11250410 NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
JBrowse link
G Procr protein C receptor treatment IEP associated with Sepsis RGD PMID:23807243 RGD:10755583 NCBI chr 3:144,254,596...144,258,863
Ensembl chr 3:144,254,380...144,258,903
JBrowse link
G Ptafr platelet-activating factor receptor treatment IMP associated with Endotoxemia RGD PMID:2538527 RGD:10043182 NCBI chr 5:144,765,770...144,795,057
Ensembl chr 5:144,765,976...144,795,251
JBrowse link
G Ptger4 prostaglandin E receptor 4 treatment IMP RGD PMID:16871242 RGD:10003092 NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP RGD PMID:21893983 RGD:5508181 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Rapgef3 Rap guanine nucleotide exchange factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21745194 NCBI chr 7:128,875,772...128,898,203
Ensembl chr 7:128,875,773...128,898,521
JBrowse link
G Rb1 RB transcriptional corepressor 1 IEP associated with Sepsis;protein:increased phosphorylation:kidney RGD PMID:19428114 RGD:8547990 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
JBrowse link
G Ren renin exacerbates ISO Associated with toxic shock syndrome;protein:increased expression:blood plasma (human) RGD PMID:30407370 RGD:125097506 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
JBrowse link
G Rup2 urinary protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 8:35,336,764...35,340,345
Ensembl chr 8:35,336,764...35,489,103
JBrowse link
G Scgb1a1 secretoglobin family 1A member 1 IEP associated with LPS induced endotoxemia RGD PMID:18824919 RGD:2313129 NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610
JBrowse link
G Serpina1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
JBrowse link
G Serpinc1 serpin family C member 1 ISO associated with heart failure; protein:decreased activity:plasma: RGD PMID:26108065 RGD:11354006 NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
JBrowse link
G Sirt1 sirtuin 1 severity IEP
ISO
protein:increased expression:kidney (rat)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:21416250 PMID:21416250 RGD:10047111 NCBI chr20:25,307,143...25,329,260
Ensembl chr20:25,306,917...25,329,260
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20623750 NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
JBrowse link
G Slc22a1 solute carrier family 22 member 1 treatment IDA RGD PMID:22414646 RGD:7243179 NCBI chr 1:48,076,657...48,103,679
Ensembl chr 1:48,076,666...48,103,678
JBrowse link
G Slc22a12 solute carrier family 22 member 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14655203 NCBI chr 1:203,845,039...203,852,496
Ensembl chr 1:203,845,048...203,853,555
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 1:48,121,061...48,163,268
Ensembl chr 1:48,121,061...48,163,268
JBrowse link
G Slc22a24 solute carrier family 22, member 24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23649842 PMID:26230185 NCBI chr 1:204,910,450...204,965,538 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 chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11274264 PMID:20623750 PMID:22863853 RGD:6903264 NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
JBrowse link
G Tf transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
JBrowse link
G Tff3 trefoil factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054
JBrowse link
G Tgfa transforming growth factor alpha IEP mRNA:increased expression:kidney RGD PMID:11340354 RGD:10395241 NCBI chr 4:118,618,043...118,700,897
Ensembl chr 4:118,618,269...118,700,894
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10469268 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Thbd thrombomodulin treatment IDA
ISO
RGD PMID:19176699 PMID:17804460 RGD:5684994, RGD:5685010 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
JBrowse link
G Tlr2 toll-like receptor 2 ISO associated with Sepsis
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:29286200 PMID:22655058 RGD:7207898 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tlr4 toll-like receptor 4 treatment ISO
IDA
associated with Sepsis
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:29286200 PMID:22655058 PMID:16638912 PMID:22266601 RGD:7207898, RGD:7241084, RGD:6892690 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tlr9 toll-like receptor 9 ISO associated with Sepsis RGD PMID:23548820 RGD:7245966 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16595132 PMID:18460982 PMID:20623750 PMID:21150875 RGD:7245548 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfrsf12a TNF receptor superfamily member 12A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chr10:12,707,077...12,709,071
Ensembl chr10:12,689,890...12,709,045
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 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20603111 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Ttr transthyretin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3864191 NCBI chr 9:88,801,344...88,808,465 JBrowse link
G Ugt1a9 UDP glucuronosyltransferase family 1 member A9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20623750 NCBI chr 9:88,696,981...88,808,465 JBrowse link
G Uts2r urotensin 2 receptor IMP RGD PMID:15146030 RGD:2306847 NCBI chr10:106,438,092...106,439,252
Ensembl chr10:106,438,092...106,439,252
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:20943766 PMID:22808199 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Wnt4 Wnt family member 4 IDA RGD PMID:12707392 RGD:727218 NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859
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 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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 5:116,039,222...116,099,064
Ensembl chr 5:116,039,616...116,098,618
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 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788
JBrowse link
G Cct7 chaperonin containing TCP1 subunit 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31825490 NCBI chr 4:117,989,232...118,006,478
Ensembl chr 4:117,989,232...118,006,580
JBrowse link
G Ciita class II, major histocompatibility complex, transactivator ISO mRNA:increased expression:kidney RGD PMID:9422398 RGD:7242901 NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
JBrowse link
G Fabp1 fatty acid binding protein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18368030 NCBI chr 4:103,191,015...103,194,791
Ensembl chr 4:103,191,006...103,194,788
JBrowse link
G Gsr glutathione-disulfide reductase ISO
IEP
protein:decreased activity:renal cortex: RGD PMID:17078987 PMID:12885594 RGD:7257555, RGD:7257573 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO protein:increased expression:kidney tubule, urine: RGD PMID:12081583 RGD:7245970 NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
JBrowse link
G Nog noggin IEP associated with Kidney Reperfusion Injury RGD PMID:16284088 RGD:1601494 NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:4358912 PMID:6254450 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19834340 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:19917352 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Tek TEK receptor tyrosine kinase IEP associated with Kidney Reperfusion Injury RGD PMID:16284088 RGD:1601494 NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804
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 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
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 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G Tlr2 toll-like receptor 2 ISO RGD PMID:22194975 RGD:7207900 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tlr4 toll-like receptor 4 ISO RGD PMID:22194975 RGD:7207900 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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 More... NCBI chr19:50,626,436...50,628,404
Ensembl chr19:50,626,202...50,628,431
JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr19:50,628,639...50,662,477
Ensembl chr19:50,628,552...50,662,246
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 chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO RGD PMID:2 RGD:1303381 NCBI chr  X:112,119,673...112,124,060
Ensembl chr  X:112,120,228...112,124,057
JBrowse link
G Egf epidermal growth factor ISO RGD PMID:19357719 RGD:6906909 NCBI chr 2:218,219,408...218,302,370
Ensembl chr 2:218,219,415...218,302,064
JBrowse link
G Hp haptoglobin ISO protein:increased expression:urine RGD PMID:19279121 RGD:11041816 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:23678040 PMID:23678040 RGD:7245474, RGD:7245474 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
JBrowse link
G Myh9 myosin, heavy chain 9 ISO protein:decreased expression:glomerulus RGD PMID:22313957 RGD:6903274 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
JBrowse link
G Notch4 notch receptor 4 IEP protein: increased expression: kidney RGD PMID:20706108 RGD:6480788 NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin treatment ISO RGD PMID:19188342 PMID:17229913 RGD:38596324, RGD:38599164 NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078
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
RGD
PMID:23733546 PMID:1336356 PMID:16902320 RGD:7829770, RGD:12879427 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Adm adrenomedullin ISO associated with Hypertension RGD PMID:19424162 RGD:2313311 NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
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 chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:12414515 PMID:18679781 PMID:21896938 PMID:15118671 RGD:1331525 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157
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 chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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 chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542
JBrowse link
G B2m beta-2 microglobulin ISO associated with HIV infections;protein:increased expression:urine RGD PMID:18469311 RGD:6482713 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
JBrowse link
G Casr calcium-sensing receptor IDA associated with Uremia RGD PMID:19188910 RGD:7205661 NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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 chr10:68,466,469...68,467,941
Ensembl chr10:68,452,052...68,468,231
JBrowse link
G Cd38 CD38 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21992601 NCBI chr14:67,172,062...67,212,328
Ensembl chr14:67,172,063...67,211,986
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 chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21752484 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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 chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Csf1 colony stimulating factor 1 treatment IDA associated with Hypercholesterolemia and Diabetes Mellitus, Experimental RGD PMID:8573750 RGD:7257591 NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
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 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
JBrowse link
G Ctsb cathepsin B IDA associated with Hypertension RGD PMID:19023196 RGD:2315726 NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
JBrowse link
G Ctsl cathepsin L IDA associated with Hypertension RGD PMID:19023196 RGD:2315726 NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548
JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 IMP RGD PMID:15939810 RGD:2307307 NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
JBrowse link
G Drd1 dopamine receptor D1 ISO DNA:polymorphism:5' utr:g.-94G>A rs5326 (human) RGD PMID:17353515 RGD:7248452 NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002
JBrowse link
G Edn1 endothelin 1 IEP protein:increased expression:renal papilla (rat) RGD PMID:20666571 RGD:4144838 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Epo erythropoietin ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:urine,serum RGD PMID:16921186 RGD:2313841 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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 chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
JBrowse link
G Fbn1 fibrillin 1 ISO associated with Hypertension RGD PMID:16380460 RGD:7365080 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 ISO associated with Diabetes Mellitus; protein:increased activity:serum RGD PMID:15890893 RGD:2315606 NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442
JBrowse link
G Gnaq G protein subunit alpha q ISO CTD Direct Evidence: marker/mechanism CTD PMID:16267159 NCBI chr 1:213,425,631...213,671,947
Ensembl chr 1:213,424,465...213,667,672
JBrowse link
G Gpc5 glypican 5 ISO CTD Direct Evidence: therapeutic CTD PMID:21441931 NCBI chr15:92,207,275...93,644,054
Ensembl chr15:92,239,176...93,643,282
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 chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
JBrowse link
G Igf1 insulin-like growth factor 1 susceptibility ISO RGD PMID:16645019 RGD:1598420 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:23103566 RGD:7175089 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17167242 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9861226 PMID:29420703 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
JBrowse link
G Lrp2 LDL receptor related protein 2 IDA RGD PMID:12121845 RGD:1641839 NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
JBrowse link
G Mir130a microRNA 130a ISO CTD Direct Evidence: marker/mechanism CTD PMID:24223694 NCBI chr 3:69,822,542...69,822,629
Ensembl chr 3:69,822,542...69,822,629
JBrowse link
G Mir145 microRNA 145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24223694 NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
JBrowse link
G Mir155 microRNA 155 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24223694 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
JBrowse link
G Mir322 microRNA 322 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24223694 NCBI chr  X:132,806,594...132,806,688 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 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Myh9 myosin, heavy chain 9 ISO associated with hypertension;DNA:SNPs: : RGD PMID:19153477 RGD:6903241 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
JBrowse link
G Nck1 NCK adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr 8:101,018,610...101,079,237
Ensembl chr 8:101,018,702...101,079,300
JBrowse link
G Nck2 NCK adaptor protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr 9:45,713,979...45,840,330
Ensembl chr 9:45,714,883...45,840,307
JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15684566 NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313
JBrowse link
G Nr4a1 nuclear receptor subfamily 4, group A, member 1 IMP compared to FHH RGD PMID:24722447 RGD:12910103 NCBI chr 7:132,368,399...132,389,300
Ensembl chr 7:132,374,840...132,389,297
JBrowse link
G Nr4a1m1Mcwi nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin IMP compared to FHH RGD PMID:24722447 RGD:12910103
G Pdpn podoplanin IEP RGD PMID:18199599 RGD:2292240 NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656
JBrowse link
G Pon1 paraoxonase 1 ISO DNA:polymorphisms:promoter, cds (human) RGD PMID:16949520 RGD:2313272 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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 chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17890881 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Pth parathyroid hormone ISO associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human) RGD PMID:23066118 RGD:7242730 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
JBrowse link
G Pycard PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 1:182,601,657...182,603,013
Ensembl chr 1:182,601,174...182,602,955
JBrowse link
G Rab38 RAB38, member RAS oncogene family IAGP compared to FHH-Tg(CAG-Rab38)1Mcwi, FHH.BN-(D1Hmgc14-D1Hmgc15)/Mcwi RGD PMID:15758045 PMID:23291471 RGD:1357409, RGD:13782139 NCBI chr 1:142,182,566...142,262,923
Ensembl chr 1:142,182,556...142,262,924
JBrowse link
G Rab38em1Mcwi RAB38, member RAS oncogene family; zinc finger nuclease induced mutant 1, Medical College of Wisconsin IAGP compared to FHH-Tg(CAG-Rab38)1Mcwi, FHH.BN-(D1Hmgc14-D1Hmgc15)/Mcwi RGD PMID:23291471 RGD:13782139
G Rag1 recombination activating 1 IMP RGD PMID:23364523 RGD:7207429 NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
JBrowse link
G Rag1em1Mcwi recombination activating gene 1; zinc finger nuclease induced mutant 1, Medical College of Wisconsin IMP as compare to o.4% NaCl diet RGD PMID:23364523 RGD:7207429
G Rag1em2Mcwi recombination activating gene 1; zinc finger nuclease induced mutant 2, Medical College of Wisconsin IMP RGD PMID:23364523 RGD:7207429
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12414515 PMID:18679781 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
JBrowse link
G Retn resistin ISO associated with Hypertension;protein:increased expression:blood RGD PMID:20203628 RGD:7207150 NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620
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 chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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 chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
JBrowse link
G Sh2b3 SH2B adaptor protein 3 IMP RGD PMID:25776069 RGD:13442483 NCBI chr12:34,749,849...34,753,616
Ensembl chr12:34,731,911...34,753,616
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 Shc1 SHC adaptor protein 1 ameliorates IMP RGD PMID:27270176 RGD:12792230 NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536
JBrowse link
G Shc1em4Mcwi SHC adaptor protein 1; ZFN induced mutant 4, Medical College of Wisconsin ameliorates IMP RGD PMID:27270176 RGD:12792230
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17942768 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Spp1 secreted phosphoprotein 1 IEP RGD PMID:18443355 RGD:6903862 NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
JBrowse link
G Tmem63c transmembrane protein 63c IEP mRNA:increased expression:kidney,renal glomerulus (rat) RGD PMID:30900988 RGD:15023481 NCBI chr 6:106,667,389...106,738,778
Ensembl chr 6:106,672,934...106,736,990
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17167242 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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 2:119,481,313...119,619,333
Ensembl chr 2:119,481,400...119,558,855
JBrowse link
G Trpc5 transient receptor potential cation channel, subfamily C, member 5 ISO RGD PMID:24231357 RGD:10043830 NCBI chr  X:107,946,163...108,230,978
Ensembl chr  X:107,939,131...108,230,991
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 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
JBrowse link
G Tslp thymic stromal lymphopoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17686814 NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
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 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
JBrowse link
Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn14 claudin 14 ISO ClinVar Annotator: match by term: Alport syndrome ClinVar PMID:30311386 NCBI chr11:33,232,281...33,329,440
Ensembl chr11:33,232,220...33,329,171
JBrowse link
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: Congenital hereditary hematuria
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1400291 PMID:7987301 PMID:7987396 PMID:8956999 PMID:9195222 More... RGD:1600924 NCBI chr 9:83,875,958...84,004,955
Ensembl chr 9:83,875,561...84,001,895
JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Alport syndrome ClinVar PMID:1721625 PMID:9792860 PMID:11134255 PMID:11685592 PMID:11961012 More... NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
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
RGD
PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651292 PMID:8651296 More... RGD:1600687 NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692
JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:22937108 RGD:7175090 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO RGD PMID:16816359 RGD:7241212 NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO protein:increased expression:kidney RGD PMID:16509766 RGD:7241252 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
JBrowse link
G Myh9 myosin, heavy chain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10973259 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Alport syndrome ClinVar PMID:30311386 NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: :HLA-DRB1*16 (human) RGD PMID:15182324 RGD:7365078 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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: Amelogenesis imperfecta type 1G
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 More... NCBI chr10:94,638,836...94,697,814
Ensembl chr10:94,642,850...94,697,672
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 type 1G
ClinVar Annotator: match by term: Amelogenesis imperfecta and gingival fibromatosis syndrome
ClinVar PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 More... NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
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:104,766,463...105,117,499
Ensembl chr  X:104,766,957...105,117,500
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 chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Agtr1a angiotensin II receptor, type 1a IEP protein:increased expression:kidney RGD PMID:21282555 RGD:5129185 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
JBrowse link
G Bax BCL2 associated X, apoptosis regulator IEP mRNA, protein:increased expression:kidney RGD PMID:12234300 RGD:1579984 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP mRNA, protein:decreased expression:kidney RGD PMID:12234300 RGD:1579984 NCBI chr13:22,689,783...22,853,920 JBrowse link
G Ccl17 C-C motif chemokine ligand 17 IEP mRNA:increased expression:glomerulus RGD PMID:20071465 RGD:4145614 NCBI chr19:10,202,317...10,203,768
Ensembl chr19:10,202,128...10,203,819
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 chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccl22 C-C motif chemokine ligand 22 IMP mRNA, protein:increased expression:glomerulus RGD PMID:12651599 RGD:2306306 NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
JBrowse link
G Ccl4 C-C motif chemokine ligand 4 IEP mRNA:increased expression:glomerulus RGD PMID:17898087 RGD:2307059 NCBI chr10:68,466,469...68,467,941
Ensembl chr10:68,452,052...68,468,231
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 IEP mRNA:increased expression:glomerulus RGD PMID:17898087 RGD:2307059 NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Cd274 CD274 molecule treatment ISO RGD PMID:21965585 RGD:7248671 NCBI chr 1:227,116,627...227,137,379
Ensembl chr 1:227,116,649...227,134,450
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:15210767 RGD:7248442 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cd40lg CD40 ligand IMP RGD PMID:15458437 RGD:5508170 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cd80 Cd80 molecule IMP RGD PMID:10712436 RGD:6902936 NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
JBrowse link
G Cfb complement factor B ISO RGD PMID:22492944 RGD:7242700 NCBI chr20:3,970,643...3,976,510 JBrowse link
G Clu clusterin IEP protein:increased expression:urine RGD PMID:23791361 RGD:9068422 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
JBrowse link
G Csf1 colony stimulating factor 1 treatment IDA RGD PMID:19242505 RGD:7257569 NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
JBrowse link
G Csf1r colony stimulating factor 1 receptor treatment IDA RGD PMID:19242505 RGD:7257569 NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 IEP mRNA, protein:increased expression:glomerulus RGD PMID:19590241 RGD:4891946 NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 IEP mRNA, protein:increased expression:glomerulus RGD PMID:19590241 RGD:4891946 NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 IEP mRNA:increased expression:glomerulus RGD PMID:17557270 RGD:2306579 NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168
JBrowse link
G Dusp1 dual specificity phosphatase 1 IEP mRNA:increased expression:glomerulus RGD PMID:8587253 RGD:633769 NCBI chr10:16,680,489...16,683,276 JBrowse link
G Fcgr3a Fc gamma receptor IIIa no_association ISO DNA:cnv: :
DNA:polymorphism:exon:(rs396991)(human)
RGD PMID:19946017 PMID:19640933 RGD:5508400, RGD:5508403 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
JBrowse link
G Gp6 glycoprotein VI ISO RGD PMID:20651232 RGD:7242710 NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326
JBrowse link
G Il10 interleukin 10 treatment IDA RGD PMID:23826305 RGD:7365004 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il17a interleukin 17A treatment IDA RGD PMID:23826305 RGD:7365004 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
JBrowse link
G Il18 interleukin 18 ISO RGD PMID:22046355 RGD:6893447 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1rn interleukin 1 receptor antagonist IDA RGD PMID:20071465 RGD:4145614 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il4 interleukin 4 IMP
IDA
RGD PMID:9350645 PMID:17898087 RGD:2317673, RGD:2307059 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Itga4 integrin subunit alpha 4 treatment IDA
IMP
RGD PMID:9032136 PMID:7679412 RGD:2308810, RGD:9698425 NCBI chr 3:64,162,764...64,235,010
Ensembl chr 3:64,163,085...64,233,715
JBrowse link
G Mapk14 mitogen activated protein kinase 14 IEP RGD PMID:21894146 RGD:6218988 NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 IEP RGD PMID:21894146 RGD:6218988 NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
JBrowse link
G Mif macrophage migration inhibitory factor IDA RGD PMID:10780884 RGD:1642011 NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
JBrowse link
G Mmp12 matrix metallopeptidase 12 IEP RGD PMID:21894146 RGD:6218988 NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
JBrowse link
G Mmp14 matrix metallopeptidase 14 IEP mRNA:increased expression:kidney, macrophage RGD PMID:10878552 RGD:2314954 NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
JBrowse link
G Nos2 nitric oxide synthase 2 IEP RGD PMID:21894146 RGD:6218988 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Nppb natriuretic peptide B ISO RGD PMID:11729234 RGD:7248605 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
JBrowse link
G Pdcd1 programmed cell death 1 treatment IEP RGD PMID:21965585 RGD:7248671 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO RGD PMID:17888025 RGD:5563035 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
JBrowse link
G Ptk2b protein tyrosine kinase 2 beta IEP protein:increased expression:glomerulus RGD PMID:11774117 RGD:729912 NCBI chr15:40,360,722...40,481,235
Ensembl chr15:40,360,723...40,481,282
JBrowse link
G Rapgef1 Rap guanine nucleotide exchange factor 1 IEP protein:increased expression:renal glomerulus RGD PMID:18784646 RGD:11534983 NCBI chr 3:12,898,349...13,016,234
Ensembl chr 3:12,898,266...13,013,984
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism (human) RGD PMID:21569485 RGD:5147561 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Selp selectin P IDA RGD PMID:21894146 RGD:6218988 NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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 chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
JBrowse link
G Slit2 slit guidance ligand 2 IEP mRNA:decreased expression:kidney, glomerulus RGD PMID:15215188 RGD:2316132 NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:20504883 RGD:6903276 NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
JBrowse link
G Syk spleen associated tyrosine kinase IMP RGD PMID:21894146 RGD:6218988 NCBI chr17:12,604,615...12,678,437
Ensembl chr17:12,604,619...12,661,410
JBrowse link
G Tnf tumor necrosis factor IEP RGD PMID:21894146 RGD:6218988 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO protein:increased expression:urine, serum: RGD PMID:23460853 RGD:7241232 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
JBrowse link
G Xcl1 X-C motif chemokine ligand 1 IEP mRNA:increased expression:glomerulus RGD PMID:9717977 RGD:8693304 NCBI chr13:77,248,865...77,252,308
Ensembl chr13:77,248,717...77,252,329
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 chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6734075 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8225663 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
JBrowse link
G Prkab1 protein kinase AMP-activated non-catalytic subunit beta 1 treatment ISO RGD PMID:27782167 RGD:39128183 NCBI chr12:40,588,140...40,598,673
Ensembl chr12:40,588,211...40,598,661
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 6:106,888,284...106,913,139
Ensembl chr 6:106,888,284...106,913,117
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 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
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 6:106,888,284...106,913,139
Ensembl chr 6:106,888,284...106,913,117
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 More... NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
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 6:106,888,284...106,913,139
Ensembl chr 6:106,888,284...106,913,117
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)
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar
RGD
PMID:12753286 PMID:17187257 PMID:17627784 PMID:23715102 PMID:25741868 More... RGD:10449096 NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
JBrowse link
G Baat bile acid CoA:amino acid N-acyltransferase ISO ClinVar Annotator: match by term: atypical hemolytic uremic syndrome ClinVar NCBI chr 5:63,851,668...63,860,641
Ensembl chr 5:63,850,705...63,860,685
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 More... NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505
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
RGD
PMID:1976733 PMID:14639503 PMID:17634448 PMID:18325906 PMID:18796626 More... RGD:7364995, RGD:11040768 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 ClinVar NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701
JBrowse link
G Cd46 CD46 molecule susceptibility
severity
ISO ClinVar Annotator: match by OMIM:612922
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 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
RGD
PMID:270646 PMID:3480783 PMID:9551389 PMID:10528197 PMID:14566051 More... RGD:11352810, RGD:11040768, RGD:11352768, RGD:11038684 NCBI chr13:106,575,586...106,606,325 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
OMIM
CTD
RGD
PMID:2249879 PMID:6308626 PMID:7452889 PMID:8181962 PMID:16518403 More... RGD:7242707, RGD:11040768 NCBI chr20:3,970,643...3,976,510 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: 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
RGD
PMID:646435 PMID:8072530 PMID:9551389 PMID:9811382 PMID:9848786 More... RGD:1599886, RGD:11041172, RGD:11041162, RGD:11040768, RGD:7364995, RGD:7364995, RGD:7364995 NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
JBrowse link
G Cfhr1 complement factor H-related 1 susceptibility ISO ClinVar Annotator: match by OMIM:235400
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to
DNA:deletion
ClinVar
CTD
OMIM
RGD
PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 PMID:25741868 More... RGD:11041162 NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592
JBrowse link
G Cfi complement factor I susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612923
ClinVar
CTD
OMIM
RGD
PMID:15173250 PMID:16621965 PMID:18557729 PMID:18825487 PMID:19877009 More... RGD:6906889 NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561
JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 ClinVar PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651296 PMID:8940267 More... NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692
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 NCBI chr10:73,852,679...73,877,334
Ensembl chr10:73,855,583...73,877,100
JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome ClinVar PMID:16311595 PMID:16714133 PMID:17768669 PMID:17853453 PMID:18164228 More... NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601
JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome ClinVar NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786
JBrowse link
G Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome ClinVar PMID:28492532 PMID:28844315 NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146
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
RGD
PMID:7811989 PMID:9157575 PMID:9236408 PMID:10460600 PMID:11245641 More... RGD:11038691, RGD:11038691, RGD:11038684 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
JBrowse link
atypical teratoid rhabdoid tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 More... NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
JBrowse link
G Derl3 derlin 3 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 ClinVar PMID:28492532 NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027
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:9536098 PMID:9671307 PMID:9892189 PMID:10521299 PMID:10739763 More... NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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:9536098 PMID:17576681 PMID:25741868 PMID:25894502 PMID:27577878 More... NCBI chr13:84,546,483...84,586,879
Ensembl chr13:84,545,943...84,586,874
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:8956999 PMID:9195222 More... NCBI chr 9:83,875,958...84,004,955
Ensembl chr 9:83,875,561...84,001,895
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:9536098 PMID:9792860 PMID:11961012 PMID:12631110 PMID:12748344 More... NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
JBrowse link
G Myh9 myosin, heavy chain 9 ISO DNA:missense mutation:exon:4270G>C,D1424H (human) RGD PMID:12500226 RGD:6902925 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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 More... NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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
RGD
PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 More... RGD:1598933, RGD:10044239 NCBI chr 4:159,914,393...159,922,073
Ensembl chr 4:159,914,272...159,923,821
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 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
JBrowse link
G Angpt2 angiopoietin 2 IEP protein:increased expression:bile duct (rat) RGD PMID:16628643 RGD:2314213 NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
JBrowse link
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12089381 NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596
JBrowse link
G Bicc1 BicC family RNA binding protein 1 ISS MouseDO NCBI chr20:17,449,644...17,686,775
Ensembl chr20:17,449,560...17,686,776
JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25877301 NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
JBrowse link
G Bricd5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr10:13,498,726...13,500,259
Ensembl chr10:13,498,381...13,500,259
JBrowse link
G C9 complement C9 disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr 2:55,573,094...55,621,345
Ensembl chr 2:55,572,992...55,621,338
JBrowse link
G Caskin1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr10:13,512,684...13,533,380
Ensembl chr10:13,513,465...13,533,377
JBrowse link
G Cd14 CD14 molecule disease_progression ISO protein:altered localization:kidney,urine RGD PMID:20555320 RGD:7204130 NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A IEP protein:decreased expression:kidney RGD PMID:17714589 RGD:2289666 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
JBrowse link
G Cfb complement factor B disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr20:3,970,643...3,976,510 JBrowse link
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:5,528,441...5,542,078
Ensembl chr14:5,528,431...5,539,323
JBrowse link
G Dnase1l2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr10:13,471,850...13,473,447
Ensembl chr10:13,471,479...13,473,763
JBrowse link
G Dspp dentin sialophosphoprotein ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr10:13,471,478...13,495,018
Ensembl chr10:13,474,456...13,485,974
JBrowse link
G Edn1 endothelin 1 ISO mRNA, protein:increased expression:kidney (human) RGD PMID:12629276 RGD:4144854 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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 4:88,056,521...88,155,782
Ensembl chr 4:88,058,403...88,155,860
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO protein: increased expression: kidney RGD PMID:16049073 RGD:7242198 NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
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 1:205,793,810...205,813,701
Ensembl chr 1:205,793,895...205,813,695
JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr 9:75,862,151...75,863,140
Ensembl chr 9:75,860,677...75,863,168
JBrowse link
G Gprin3 GPRIN family member 3 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:88,563,708...88,657,603
Ensembl chr 4:88,563,607...88,657,429
JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO protein:increased expression:kidney: RGD PMID:12388382 RGD:7245969 NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
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 4:87,952,202...88,042,492
Ensembl chr 4:87,952,274...88,042,488
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 4:87,524,470...87,566,895
Ensembl chr 4:87,524,493...87,581,744
JBrowse link
G Hsd17b11 hydroxysteroid (17-beta) dehydrogenase 11 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:5,693,304...5,743,157
Ensembl chr14:5,711,964...5,743,161
JBrowse link
G Hsd17b13 hydroxysteroid (17-beta) dehydrogenase 13 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:5,751,697...5,766,809
Ensembl chr14:5,752,132...5,768,166
JBrowse link
G Ibsp integrin-binding sialoprotein ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:5,439,825...5,452,570
Ensembl chr14:5,439,829...5,452,693
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:decreased expression:urine (human) RGD PMID:9090470 RGD:6909172 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Itga8 integrin subunit alpha 8 ISO mRNA:increased expression:kidney RGD PMID:18277079 RGD:7257723 NCBI chr17:75,304,004...75,501,510
Ensembl chr17:75,304,008...75,501,510
JBrowse link
G Klhl8 kelch-like family member 8 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:5,807,795...5,853,325
Ensembl chr14:5,807,907...5,853,294
JBrowse link
G Lcn2 lipocalin 2 disease_progression ISO protein:increased expression:serum, urine RGD PMID:20921623 PMID:22258321 RGD:126781837, RGD:126790531 NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
JBrowse link
G Lrp2 LDL receptor related protein 2 IEP RGD PMID:11841627 RGD:1641842 NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
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 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
JBrowse link
G Mepe matrix extracellular phosphoglycoprotein ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:5,420,634...5,432,186
Ensembl chr14:5,420,635...5,432,183
JBrowse link
G Mlst8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr10:13,498,377...13,504,128
Ensembl chr10:13,498,388...13,504,128
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:serum (human) RGD PMID:10644865 RGD:7207194 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:plasma (human) RGD PMID:10644865 RGD:7207194 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:23195001 RGD:7245504 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:kidney (mouse)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:25877301 PMID:18356167 RGD:7207457 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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 4:88,022,670...88,024,988
Ensembl chr 4:88,022,569...88,024,654
JBrowse link
G Nphp3 nephrocystin 3 ISS MouseDO NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
JBrowse link
G Nudt9 nudix hydrolase 9 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:5,675,376...5,693,332
Ensembl chr14:5,675,382...5,693,142
JBrowse link
G Pgp phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr10:13,495,232...13,497,858
Ensembl chr10:13,494,291...13,497,858
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 8:20,689,621...20,691,863
Ensembl chr 8:20,689,502...20,692,585
JBrowse link
G Pitx2 paired-like homeodomain 2 IEP mRNA:increased expression:kidney RGD PMID:20926632 RGD:5131995 NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting severity ISO DNA:mutations:exons, intron:multiple
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease
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
RGD
PMID:7581371 PMID:8004675 PMID:9521593 PMID:10200984 PMID:10364515 More... RGD:1601399, RGD:7175280, RGD:7175279 NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel onset ISO DNA:mutations:multiple
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:8650545 PMID:9536098 PMID:9573526 PMID:9949210 PMID:10411676 More... RGD:7175273, RGD:7175279 NCBI chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 ClinVar PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 More... NCBI chr 9:22,547,396...23,037,443 JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:20210794 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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 4:87,612,198...87,638,993
Ensembl chr 4:87,612,204...87,636,152
JBrowse link
G Pyurf PIGY upstream open reading frame ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:87,501,859...87,505,494
Ensembl chr 4:87,501,859...87,505,494
JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr10:13,553,395...13,558,063
Ensembl chr10:13,553,395...13,558,030
JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 IEP protein:increased expression, increased activity:kidney RGD PMID:16221708 RGD:1643017 NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908
JBrowse link
G Serping1 serpin family G member 1 disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034
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 chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
JBrowse link
G Snca synuclein alpha ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262
JBrowse link
G Sparcl1 SPARC like 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:5,632,816...5,663,866
Ensembl chr14:5,632,569...5,663,865
JBrowse link
G Spp1 secreted phosphoprotein 1 IEP
ISO
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar
RGD
PMID:25741868 PMID:20926632 RGD:5131995 NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495
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 4:88,414,366...88,417,458
Ensembl chr 4:88,414,518...88,417,785
JBrowse link
G Traf7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr10:13,533,570...13,552,290
Ensembl chr10:13,533,570...13,552,203
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 PMID:30311385 NCBI chr 9:81,592,641...81,670,428
Ensembl chr 9:81,592,641...81,670,462
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 chr17:6,523,089...6,645,971
Ensembl chr17:6,521,912...6,642,154
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
RGD
PMID:9662404 PMID:11134129 PMID:11344206 PMID:12483305 PMID:12679457 More... RGD:1600930 NCBI chr19:30,715,648...31,059,885
Ensembl chr19:30,715,648...31,059,885
JBrowse link
G Stx16 syntaxin 16 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar NCBI chr 3:162,853,764...162,882,489
Ensembl chr 3:162,853,782...162,882,489
JBrowse link
Autosomal Dominant Tubulointerstitial Kidney Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Umod uromodulin ISO ClinVar Annotator: match by term: Uromodulin-associated kidney disease
ClinVar Annotator: match by term: MEDULLARY CYSTIC KIDNEY DISEASE 2, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: UMOD-Associated Kidney Disease
ClinVar Annotator: match by term: Familial juvenile gout
ClinVar Annotator: match by term: HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1
ClinVar Annotator: match by OMIM:162000
ClinVar
OMIM
RGD
PMID:7396593 PMID:10330352 PMID:12205338 PMID:12471200 PMID:12519891 More... RGD:737832 NCBI chr 1:173,816,341...173,829,681
Ensembl chr 1:173,816,339...173,830,302
JBrowse link
Autosomal Dominant Tubulointerstitial Kidney Disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Muc1 mucin 1, cell surface associated ISO DNA:mutation::
ClinVar Annotator: match by term: Medullary cystic kidney disease 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:174000
ClinVar
CTD
OMIM
RGD
PMID:15384011 PMID:23396133 PMID:25741868 PMID:33532864 PMID:23396133 RGD:7244289 NCBI chr 2:174,635,559...174,640,738
Ensembl chr 2:174,635,995...174,640,733
JBrowse link
Autosomal Dominant Tubulointerstitial Kidney Disease 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ren renin ISO ClinVar Annotator: match by term: Hyperuricemic nephropathy, familial juvenile, 2
ClinVar Annotator: match by OMIM:613092
OMIM
ClinVar
PMID:16116425 PMID:19664745 PMID:25741868 PMID:28492532 PMID:33532864 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
JBrowse link
Autosomal Dominant Tubulointerstitial Kidney Disease 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec61a1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Hyperuricemic nephropathy, familial juvenile, 4 ClinVar
OMIM
PMID:27392076 NCBI chr 4:120,973,519...120,987,871
Ensembl chr 4:120,960,626...120,987,925
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: Wolfram-like syndrome, autosomal dominant
ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION
ClinVar Annotator: match by OMIM:614296
OMIM
ClinVar
PMID:10679252 PMID:11295831 PMID:15605410 PMID:16648378 PMID:17492394 More... NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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 8:123,556,286...123,561,841 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 More... NCBI chr 9:83,875,958...84,004,955
Ensembl chr 9:83,875,561...84,001,895
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 More... NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISS OMIM:203780 MouseDO NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244
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:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 1:82,600,136...82,634,346
Ensembl chr 1:82,600,136...82,632,178
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 chr14:5,528,441...5,542,078
Ensembl chr14:5,528,431...5,539,323
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:9662402 PMID:10453738 PMID:11771660 PMID:16025115 PMID:16609882 More... NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
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 More... NCBI chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818
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 chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Akt1 AKT serine/threonine kinase 1 IDA protein:increased serine phosphorylation:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
JBrowse link
G Aqp1 aquaporin 1 IEP
ISO
mRNA, protein:increased expression, altered location:bile duct, epithelial cell
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:18988797 PMID:18988797 RGD:2307071 NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690
JBrowse link
G Arl3 ADP ribosylation factor like GTPase 3 ISS OMIM:263200 MouseDO NCBI chr 1:245,400,659...245,446,673
Ensembl chr 1:245,400,550...245,446,820
JBrowse link
G Bicc1 BicC family RNA binding protein 1 ISS OMIM:263200 MouseDO NCBI chr20:17,449,644...17,686,775
Ensembl chr20:17,449,560...17,686,776
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 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G Cd14 CD14 molecule severity ISO RGD PMID:20555320 PMID:20555320 RGD:7204130, RGD:7204130 NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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 8:109,864,356...109,882,734
Ensembl chr 8:109,864,478...109,882,701
JBrowse link
G Cftr CF transmembrane conductance regulator IEP
ISO
mRNA, protein:increased expression:bile duct epithelium
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:18988797 PMID:18988797 RGD:2307071 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
JBrowse link
G Cyp4a1 cytochrome P450, family 4, subfamily a, polypeptide 1 IEP mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 5:129,123,323...129,137,464
Ensembl chr 5:129,123,336...129,137,464
JBrowse link
G Cyp4a2 cytochrome P450, family 4, subfamily a, polypeptide 2 IEP mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 5:128,922,355...128,934,188
Ensembl chr 5:128,923,615...128,934,165
JBrowse link
G Cyp4a3 cytochrome P450, family 4, subfamily a, polypeptide 3 IEP mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 5:129,097,571...129,115,488
Ensembl chr 5:129,097,926...129,115,463
JBrowse link
G Cyp4a8 cytochrome P450, family 4, subfamily a, polypeptide 8 IEP mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 5:128,702,130...128,733,476
Ensembl chr 5:128,702,131...128,733,476
JBrowse link
G Cys1 cystin 1 ISO
ISS
OMIM:263200 MouseDO
RGD
PMID:11854326 RGD:7175541 NCBI chr 6:41,300,836...41,318,071
Ensembl chr 6:41,300,836...41,318,071
JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease ClinVar PMID:29068549 NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183
JBrowse link
G Dzip1l DAZ interacting zinc finger protein 1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:28530676 NCBI chr 8:100,188,414...100,229,077
Ensembl chr 8:100,194,999...100,228,988
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9486961 NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Eln elastin IEP RGD PMID:21478483 RGD:7207865 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr 9:75,862,151...75,863,140
Ensembl chr 9:75,860,677...75,863,168
JBrowse link
G Ift88 intraflagellar transport 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8191288 PMID:8608416 NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147
JBrowse link
G Mtor mechanistic target of rapamycin kinase IDA protein:increased serine phosphorylation:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:kidney (mouse) RGD PMID:3479800 RGD:7207453 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
JBrowse link
G Nek1 NIMA-related kinase 1 ISS OMIM:263200 MouseDO NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723
JBrowse link
G Nek8 NIMA-related kinase 8 ISS OMIM:263200 MouseDO NCBI chr10:63,060,868...63,073,546
Ensembl chr10:63,061,253...63,072,416
JBrowse link
G Nphp3 nephrocystin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12089381 NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
JBrowse link
G Panx1 Pannexin 1 IEP RGD PMID:31630543 RGD:14995937 NCBI chr 8:11,851,176...11,889,774
Ensembl chr 8:11,850,730...11,889,774
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 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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:25741868 PMID:26467025 PMID:29100090 NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease ClinVar PMID:25741868 NCBI chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin susceptibility
severity
ISO
IAGP
IEP
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
RGD
PMID:1189128 PMID:9536098 PMID:11898128 PMID:11919560 PMID:12506140 More... RGD:70439, RGD:70439, RGD:11062506, RGD:14700917, RGD:1642441, RGD:70439 NCBI chr 9:22,547,396...23,037,443 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 2:124,605,445...124,763,964
Ensembl chr 2:124,605,658...124,764,065
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
RGD
PMID:18988797 PMID:18988797 RGD:2307071 NCBI chr 4:10,736,419...10,754,407
Ensembl chr 4:10,736,425...10,752,965
JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18385429 NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476
JBrowse link
G Tmem67 transmembrane protein 67 IAGP RGD PMID:30705305 PMID:11095650 PMID:15052665 RGD:14995942, RGD:1300514, RGD:15014788 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
JBrowse link
G Tmem67wpk transmembrane protein 67; wpk mutant IAGP RGD PMID:30705305 PMID:11095650 PMID:15052665 RGD:14995942, RGD:1300514, RGD:15014788
G Tsc1 TSC complex subunit 1 ISS OMIM:263200 MouseDO NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
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 4:158,108,884...158,115,339
Ensembl chr 4:158,108,886...158,121,539
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 More... NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
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 More... NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451
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 More... NCBI chr 1:176,304,942...176,338,816
Ensembl chr 1:176,304,942...176,338,816
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive ClinVar NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn2 claudin 2 ISO ClinVar Annotator: match by term: AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS ClinVar
OMIM
PMID:31320686 NCBI chr  X:103,459,870...103,473,794
Ensembl chr  X:103,459,780...103,474,838
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 chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6338847 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
JBrowse link
bacteriuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clec4m C-type lectin domain family 4 member M ISO associated with Escherichia Coli Infections RGD PMID:31998663 RGD:41410804 NCBI chr12:1,915,902...1,924,529
Ensembl chr12:1,915,919...1,924,539
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 chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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 syndrome
ClinVar Annotator: match by term: Bartter's syndrome
ClinVar
RGD
PMID:11687798 PMID:16583241 PMID:16773427 PMID:17954364 PMID:18776122 More... RGD:1600603 NCBI chr 5:121,251,774...121,260,571
Ensembl chr 5:121,251,774...121,260,571
JBrowse link
G Clcnkb chloride voltage-gated channel Kb ISO CTD Direct Evidence: marker/mechanism CTD PMID:10561751 NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153
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 More... NCBI chr 8:30,779,883...30,808,607
Ensembl chr 8:30,753,617...30,813,796
JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:929154 PMID:3519017 PMID:15976003 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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
RGD
PMID:10561751 PMID:8640224 RGD:1624188 NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899
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:9536098 PMID:9585600 PMID:12761241 More... NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899
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 More... NCBI chr 8:30,779,883...30,808,607
Ensembl chr 8:30,753,617...30,813,796
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 5:153,691,208...153,706,295
Ensembl chr 5:153,691,209...153,706,148
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 More... NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153
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 More... NCBI chr 5:121,251,774...121,260,571
Ensembl chr 5:121,251,774...121,260,571
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 5:153,691,208...153,706,295
Ensembl chr 5:153,691,209...153,706,148
JBrowse link
G Clcnkb chloride voltage-gated channel Kb ISO ClinVar Annotator: match by term: Bartter syndrome, type 4b OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:26467025 NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153
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  X:19,733,593...19,741,769
Ensembl chr  X:19,733,597...19,740,477
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:25741868 PMID:26920127 More... NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153
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: Microscopic hematuria
ClinVar Annotator: match by term: Benign familial hematuria
ClinVar Annotator: match by OMIM:141200
ClinVar
OMIM
RGD
PMID:11134255 PMID:11961012 PMID:24052634 PMID:25307543 PMID:25741868 More... RGD:7242047 NCBI chr 9:83,875,958...84,004,955
Ensembl chr 9:83,875,561...84,001,895
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
RGD
PMID:8787673 PMID:9792860 PMID:11961012 PMID:12325029 PMID:12631110 More... RGD:7242047 NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Familial hematuria
ClinVar Annotator: match by term: Microscopic hematuria
ClinVar PMID:8648925 PMID:25741868 PMID:30311386 NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692
JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Familial hematuria ClinVar NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451
JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO ClinVar Annotator: match by term: Microscopic hematuria ClinVar PMID:25741868 NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438
JBrowse link
Bifid Nose with or without Anorectal and Renal Anomalies