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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: Urinary Tract Diseases;   Urologic Disease;   Urological Disease;   Urological Diseases;   non-neoplastic urinary tract disease;   urinary tract disease;   urologic diseases
 primary_id: MESH:D014570
 alt_id: DOID:9002766;   RDO:0002081;   RDO:9003320
 xref: NCI:C27599
For additional species annotation, visit the Alliance of Genome Resources.


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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 IEA MouseDO NCBI chr14:46,383,525...46,390,669
Ensembl chr14:46,383,520...46,390,669
JBrowse link
G Lzts2 leucine zipper, putative tumor suppressor 2 IEA MouseDO NCBI chr19:45,015,176...45,027,115
Ensembl chr19:45,014,414...45,027,111
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 9:98,588,730...98,601,679
Ensembl chr 9:98,588,730...98,601,660
JBrowse link
G Wnt4 wingless-type MMTV integration site 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 4:137,277,635...137,299,501
Ensembl chr 4:137,277,489...137,299,726
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 6:121,636,165...121,679,238
Ensembl chr 6:121,635,376...121,679,227
JBrowse link
G Ace angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 treatment ISO RGD PMID:24502693 RGD:11039053 NCBI chr11:105,967,948...105,989,964
Ensembl chr11:105,967,945...105,989,964
JBrowse link
G Adrb2 adrenergic receptor, beta 2 treatment 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 chr18:62,177,713...62,179,981
Ensembl chr18:62,177,816...62,179,959
JBrowse link
G Afm afamin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 5:90,518,949...90,553,544
Ensembl chr 5:90,518,932...90,553,543
JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO RGD PMID:21811803 RGD:7243868 NCBI chr17:34,597,460...34,600,937
Ensembl chr17:34,597,862...34,600,936
JBrowse link
G Ahsg alpha-2-HS-glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr16:22,892,015...22,899,451
Ensembl chr16:22,891,277...22,899,449
JBrowse link
G Alad aminolevulinate, delta-, dehydratase ISO protein:decreased activity:kidney (rat) RGD PMID:19484701 RGD:4144146 NCBI chr 4:62,505,984...62,520,063
Ensembl chr 4:62,509,169...62,519,918
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:2048579, PMID:21259293, PMID:24361871, PMID:28885000 NCBI chr 5:90,460,870...90,476,602
Ensembl chr 5:90,460,897...90,476,602
JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO RGD PMID:19194548 RGD:2317536 NCBI chr 6:116,410,071...116,461,178
Ensembl chr 6:116,410,077...116,461,178
JBrowse link
G Ambp alpha 1 microglobulin/bikunin precursor ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:8963945, PMID:28885000, PMID:8963945 RGD:6904218 NCBI chr 4:63,143,275...63,154,172
Ensembl chr 4:63,143,275...63,154,799
JBrowse link
G Amn amnionless ISO CTD Direct Evidence: therapeutic CTD PMID:20514524 NCBI chr12:111,271,096...111,276,426
Ensembl chr12:111,271,095...111,276,426
JBrowse link
G Anxa1 annexin A1 treatment ISO RGD PMID:22101490 RGD:7421583 NCBI chr19:20,373,434...20,390,671
Ensembl chr19:20,373,428...20,390,944
JBrowse link
G Ar androgen receptor ISO RGD PMID:24503548 RGD:11570523 NCBI chr  X:98,148,757...98,323,218
Ensembl chr  X:98,148,769...98,323,215
JBrowse link
G Arg1 arginase, liver ISO mRNA:decreased expression:renal tubule (rat) RGD PMID:12371970 RGD:631989 NCBI chr10:24,915,207...24,927,470
Ensembl chr10:24,915,221...24,927,484
JBrowse link
G Arg2 arginase type II ISO mRNA:decreased expression:renal tubule (rat) RGD PMID:12371970 RGD:631989 NCBI chr12:79,130,788...79,156,301
Ensembl chr12:79,130,777...79,156,301
JBrowse link
G Atp5b ATP synthase, H+ transporting mitochondrial F1 complex, beta subunit ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:25666834 NCBI chr10:128,083,307...128,090,388
Ensembl chr10:128,083,273...128,090,391
JBrowse link
G Avp arginine vasopressin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2139164 NCBI chr 2:130,580,620...130,582,588
Ensembl chr 2:130,580,620...130,582,554
JBrowse link
G Avpr1a arginine vasopressin receptor 1A ISO RGD PMID:17347933 RGD:2300348 NCBI chr10:122,448,499...122,453,453
Ensembl chr10:122,448,499...122,453,452
JBrowse link
G B2m beta-2 microglobulin ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD PMID:2689182, PMID:22005293, PMID:28885000, PMID:19536607 RGD:6482685 NCBI chr 2:122,147,687...122,153,082
Ensembl chr 2:122,147,686...122,153,083
JBrowse link
G Bad BCL2-associated agonist of cell death treatment ISO RGD PMID:20037173 RGD:10053672 NCBI chr19:6,941,861...6,951,905
Ensembl chr19:6,941,861...6,951,899
JBrowse link
G Bax BCL2-associated X protein treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:20623750, PMID:20037173 RGD:10053672 NCBI chr 7:45,461,695...45,466,903
Ensembl chr 7:45,461,697...45,466,898
JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 ISO protein:increased expression:kidney RGD PMID:20037173 RGD:10053672 NCBI chr 1:106,538,176...106,714,290
Ensembl chr 1:106,538,178...106,714,274
JBrowse link
G Bcl2l1 BCL2-like 1 ISO protein:increased expression:kidney RGD PMID:20037173 RGD:10053672 NCBI chr 2:152,758,732...152,833,803
Ensembl chr 2:152,780,668...152,831,728
JBrowse link
G Bdkrb2 bradykinin receptor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24975837 NCBI chr12:105,563,172...105,595,244
Ensembl chr12:105,563,226...105,595,237
JBrowse link
G C3 complement component 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr17:57,203,967...57,228,136
Ensembl chr17:57,203,970...57,228,136
JBrowse link
G Capn1 calpain 1 treatment ISO associated with Rhabdomyolysis; RGD PMID:24158126 RGD:13792553 NCBI chr19:5,988,545...6,015,825
Ensembl chr19:5,988,545...6,015,897
JBrowse link
G Casp1 caspase 1 ISO RGD PMID:16557226 RGD:2293624 NCBI chr 9:5,298,517...5,307,281
Ensembl chr 9:5,298,508...5,307,290
JBrowse link
G Ccl11 chemokine (C-C motif) ligand 11 IEP protein:increased expression:kidney RGD PMID:22778179 RGD:7247739 NCBI chr11:82,057,832...82,062,955
Ensembl chr11:82,057,823...82,062,955
JBrowse link
G Ccl3 chemokine (C-C motif) ligand 3 ISO RGD PMID:20482449 RGD:6906908 NCBI chr11:83,647,843...83,649,378
Ensembl chr11:83,647,844...83,649,355
JBrowse link
G Ccl5 chemokine (C-C motif) ligand 5 IEP protein:increased secretion:serum (mouse) RGD PMID:19508392 RGD:4889990 NCBI chr11:83,525,778...83,530,518
Ensembl chr11:83,525,778...83,530,518
JBrowse link
G Ccr5 chemokine (C-C motif) receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26055553 NCBI chr 9:124,121,543...124,127,183
Ensembl chr 9:124,121,543...124,147,699
JBrowse link
G Cct7 chaperonin containing Tcp1, subunit 7 (eta) ISO CTD Direct Evidence: marker/mechanism CTD PMID:31825490 NCBI chr 6:85,451,505...85,468,477
Ensembl chr 6:85,451,514...85,468,475
JBrowse link
G Cd44 CD44 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chr 2:102,811,141...102,901,669
Ensembl chr 2:102,811,141...102,901,665
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO protein:decreased expression:kidney RGD PMID:16557226 RGD:2293624 NCBI chr 6:134,920,401...134,925,525
Ensembl chr 6:134,920,401...134,925,513
JBrowse link
G Ces1c carboxylesterase 1C EXP CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 8:93,099,015...93,131,283
Ensembl chr 8:93,099,015...93,131,283
JBrowse link
G Clu clusterin ISO protein:increased expression:urine
CTD Direct Evidence: marker/mechanism
CTD PMID:20118187, PMID:20623750, PMID:22005293, PMID:23052191, PMID:24361871, PMID:28885000, PMID:22581811 RGD:7245501 NCBI chr14:65,968,483...65,981,548
Ensembl chr14:65,968,483...65,981,547
JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 3:19,956,933...20,009,750
Ensembl chr 3:19,957,054...20,009,145
JBrowse link
G Crp C-reactive protein, pentraxin-related ISO protein:increased expression:serum
associated with Myocardial Infarction;
RGD PMID:22551254, PMID:22694718 RGD:6903282, RGD:6906888 NCBI chr 1:172,698,056...172,699,966
Ensembl chr 1:172,698,055...172,833,031
JBrowse link
G Csf1 colony stimulating factor 1 (macrophage) IMP RGD PMID:23143303 RGD:7257565 NCBI chr 3:107,741,048...107,760,469
Ensembl chr 3:107,741,048...107,760,469
JBrowse link
G Csf1r colony stimulating factor 1 receptor IMP RGD PMID:23143303 RGD:7257565 NCBI chr18:61,105,572...61,131,139
Ensembl chr18:61,100,598...61,132,149
JBrowse link
G Cst3 cystatin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22005293, PMID:28885000 NCBI chr 2:148,871,722...148,875,512
Ensembl chr 2:148,871,722...148,875,692
JBrowse link
G Cxcl1 chemokine (C-X-C motif) ligand 1 IEP mRNA:increased expression:kidney, liver, spleen RGD PMID:21677145 RGD:7175314 NCBI chr 5:90,891,245...90,893,121
Ensembl chr 5:90,891,241...90,893,115
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 treatment IDA RGD PMID:19890363, PMID:18495746 RGD:7257732, RGD:7257735 NCBI chr 9:57,687,928...57,703,824
Ensembl chr 9:57,687,928...57,703,824
JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 treatment IDA RGD PMID:23981375, PMID:18495746 RGD:7257727, RGD:7257735 NCBI chr 9:57,676,937...57,683,655
Ensembl chr 9:57,676,937...57,683,703
JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO RGD PMID:6223803 RGD:2307326 NCBI chr10:127,048,246...127,054,884
Ensembl chr10:127,048,250...127,053,006
JBrowse link
G Cyp2c38 cytochrome P450, family 2, subfamily c, polypeptide 38 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19814645 NCBI chr19:39,389,556...39,463,103
Ensembl chr19:39,389,556...39,463,075
JBrowse link
G Cyp2c65 cytochrome P450, family 2, subfamily c, polypeptide 65 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19814645 NCBI chr19:39,061,006...39,093,948
Ensembl chr19:39,061,015...39,093,944
JBrowse link
G Cyp2c66 cytochrome P450, family 2, subfamily c, polypeptide 66 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19814645 NCBI chr19:39,113,898...39,186,756
Ensembl chr19:39,113,898...39,187,072
JBrowse link
G Cyp2d22 cytochrome P450, family 2, subfamily d, polypeptide 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19814645 NCBI chr15:82,370,527...82,380,260
Ensembl chr15:82,370,527...82,380,260
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 treatment ISO RGD PMID:24717297, PMID:24412858 RGD:14700914, RGD:14700920 NCBI chr 7:140,763,819...140,774,990
Ensembl chr 7:140,763,739...140,774,987
JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO Protein:increased expression:renal tubule epithelium RGD PMID:15476864 RGD:1599736 NCBI chr10:127,290,793...127,296,291
Ensembl chr10:127,290,774...127,296,288
Ensembl chr10:127,290,774...127,296,288
JBrowse link
G Ece1 endothelin converting enzyme 1 ISO RGD PMID:11043448, PMID:10073607 RGD:7244180, RGD:7244185 NCBI chr 4:137,862,237...137,965,229
Ensembl chr 4:137,862,237...137,965,229
JBrowse link
G Edn1 endothelin 1 IEP
ISO
mRNA, protein:increased expression:kidney (mouse)
CTD Direct Evidence: marker/mechanism
CTD PMID:9788586, PMID:19967049 RGD:4144852 NCBI chr13:42,301,476...42,307,990
Ensembl chr13:42,301,476...42,307,990
JBrowse link
G Egf epidermal growth factor ISO mRNA:decreased expression:kidney RGD PMID:20482449, PMID:11340354 RGD:6906908, RGD:10395241 NCBI chr 3:129,677,574...129,755,322
Ensembl chr 3:129,677,565...129,755,316
JBrowse link
G Egfr epidermal growth factor receptor ISO mRNA:increased expression:kidney
CTD Direct Evidence: therapeutic
CTD PMID:14638913, PMID:11340354 RGD:10395241 NCBI chr11:16,752,203...16,913,907
Ensembl chr11:16,752,203...16,918,158
JBrowse link
G Egln1 egl-9 family hypoxia-inducible factor 1 ISO mRNA, protein:decreased expression:kidney RGD PMID:19349364 RGD:11252083 NCBI chr 8:124,908,587...124,949,254
Ensembl chr 8:124,908,587...124,949,324
JBrowse link
G Egln3 egl-9 family hypoxia-inducible factor 3 ISO mRNA, protein:decreased expression:kidney RGD PMID:19349364 RGD:11252083 NCBI chr12:54,178,981...54,203,874
Ensembl chr12:54,178,981...54,203,860
JBrowse link
G Epas1 endothelial PAS domain protein 1 treatment ISO RGD PMID:16762988 RGD:10395386 NCBI chr17:86,753,864...86,833,410
Ensembl chr17:86,753,700...86,833,410
JBrowse link
G Ephx2 epoxide hydrolase 2, cytoplasmic ISO CTD Direct Evidence: therapeutic CTD PMID:26165641 NCBI chr14:66,084,372...66,124,522
Ensembl chr14:66,084,374...66,124,500
JBrowse link
G Epo erythropoietin treatment ISO CTD Direct Evidence: therapeutic CTD PMID:21847101, PMID:24561306, PMID:22209169, PMID:22235348 RGD:10400913, RGD:11041660 NCBI chr 5:137,483,020...137,485,816
Ensembl chr 5:137,483,020...137,533,242
JBrowse link
G Fas Fas (TNF receptor superfamily member 6) ISO protein:increased expression:renal tubule (rat) RGD PMID:21374789 RGD:8663469 NCBI chr19:34,290,647...34,327,775
Ensembl chr19:34,290,666...34,327,772
JBrowse link
G Fga fibrinogen alpha chain ISO mRNA:increased expression:kidney (rat) RGD PMID:15805072 RGD:9685024 NCBI chr 3:83,026,153...83,033,627
Ensembl chr 3:83,026,076...83,033,627
JBrowse link
G Fis1 fission, mitochondrial 1 ISO protein:decreased expression:kidney (rat) RGD PMID:26480480 RGD:12910862 NCBI chr 5:136,953,275...136,966,234
Ensembl chr 5:136,953,275...136,966,234
JBrowse link
G Fn1 fibronectin 1 ISO protein:increased expression:kidney RGD PMID:12884040, PMID:11768240 RGD:7205684, RGD:729934 NCBI chr 1:71,585,473...71,653,280
Ensembl chr 1:71,585,520...71,653,200
JBrowse link
G Fstl1 follistatin-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20861081 NCBI chr16:37,777,055...37,836,516
Ensembl chr16:37,776,873...37,836,514
JBrowse link
G G6pdx glucose-6-phosphate dehydrogenase X-linked ISO CTD Direct Evidence: marker/mechanism CTD PMID:602954, PMID:734759, PMID:4794122 NCBI chr  X:74,409,483...74,428,880
Ensembl chr  X:74,409,483...74,429,194
JBrowse link
G Gas6 growth arrest specific 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19564549 NCBI chr 8:13,465,374...13,494,535
Ensembl chr 8:13,465,374...13,494,490
JBrowse link
G Gatm glycine amidinotransferase (L-arginine:glycine amidinotransferase) ISO protein:decreased activity:kidney (rat) RGD PMID:2752493 RGD:1599823 NCBI chr 2:122,594,473...122,611,277
Ensembl chr 2:122,594,467...122,611,303
JBrowse link
G Gc vitamin D binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 5:89,417,511...89,457,898
Ensembl chr 5:89,417,522...89,457,898
JBrowse link
G Gfer growth factor, augmenter of liver regeneration treatment ISO protein:increased expression:cortex of kidney,renal medulla:
CTD Direct Evidence: therapeutic
CTD PMID:20030531, PMID:20030531, PMID:20030531 RGD:9685736, RGD:9685736 NCBI chr17:24,693,190...24,696,156
Ensembl chr17:24,693,187...24,696,156
JBrowse link
G Ghrl ghrelin IDA RGD PMID:19625378 RGD:7242430 NCBI chr 6:113,716,119...113,719,911
Ensembl chr 6:113,716,119...113,719,880
JBrowse link
G Got2 glutamatic-oxaloacetic transaminase 2, mitochondrial ISO protein:decreased activity:kidney (rat) RGD PMID:23924727 RGD:13506245 NCBI chr 8:95,864,133...95,888,401
Ensembl chr 8:95,864,134...95,888,547
JBrowse link
G Gpnmb glycoprotein (transmembrane) nmb ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chr 6:49,036,518...49,058,182
Ensembl chr 6:49,036,546...49,070,929
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:22785175 NCBI chr16:38,089,001...38,246,084
Ensembl chr16:38,089,001...38,246,084
JBrowse link
G Gsr glutathione reductase ISO
IEP
glycerol-induced
protein:decreased activity:kidney:
RGD PMID:1870354, PMID:22286819 RGD:7257559, RGD:7257585 NCBI chr 8:33,653,238...33,698,162
Ensembl chr 8:33,652,523...33,698,163
JBrowse link
G Gstm2 glutathione S-transferase, mu 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20623750 NCBI chr 3:107,981,702...107,986,420
Ensembl chr 3:107,981,702...107,986,453
JBrowse link
G Gstp1 glutathione S-transferase, pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20623750, PMID:20798258 RGD:6903954 NCBI chr19:4,035,411...4,037,912
Ensembl chr19:4,035,407...4,037,985
JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO
IEP
protein:increased expression:urine
CTD Direct Evidence: marker/mechanism
protein:increased expression:urine:
associated with Pyelonephritis;protein:increased expression:urine:
CTD PMID:20118187, PMID:21259293, PMID:21835770, PMID:22005293, PMID:23052191, PMID:23845967, PMID:24189134, PMID:24361871, PMID:24958931, PMID:28885000, PMID:23683031, PMID:23019274, PMID:23319831 RGD:7244370, RGD:7245495, RGD:7245472 NCBI chr11:46,739,822...46,779,578
Ensembl chr11:46,735,080...46,779,578
JBrowse link
G Hbegf heparin-binding EGF-like growth factor ISO mRNA:increased expression:kidney
CTD Direct Evidence: marker/mechanism
CTD PMID:7635938, PMID:11340354 RGD:10395241 NCBI chr18:36,504,927...36,515,805
Ensembl chr18:36,504,927...36,515,805
JBrowse link
G Hdac2 histone deacetylase 2 treatment IEP associated with sepsis; RGD PMID:22933299 RGD:9590257 NCBI chr10:36,974,297...37,001,889
Ensembl chr10:36,974,544...37,001,889
JBrowse link
G Hdac3 histone deacetylase 3 ISO RGD PMID:21416250 RGD:10047111 NCBI chr18:37,936,971...37,955,015
Ensembl chr18:37,935,844...37,955,016
JBrowse link
G Hdac5 histone deacetylase 5 treatment IEP
ISO
associated with sepsis; RGD PMID:22933299, PMID:21416250 RGD:9590257, RGD:10047111 NCBI chr11:102,195,747...102,230,172
Ensembl chr11:102,194,432...102,230,166
JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO mRNA:increased expression:kidney collecting duct (rat)
protein:increased expression:kidney tubule (rat)
RGD PMID:24397211, PMID:24325066 RGD:9685383, RGD:9685389 NCBI chr16:30,065,357...30,067,796
Ensembl chr16:30,064,384...30,067,796
JBrowse link
G Hexb hexosaminidase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22005293 NCBI chr13:97,176,331...97,198,357
Ensembl chr13:97,176,331...97,198,357
JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit treatment ISO mRNA:increased expression:renal cortex (rat) RGD PMID:18593636, PMID:16762988, PMID:15673301 RGD:9068894, RGD:10395386, RGD:10395376 NCBI chr12:73,901,324...73,947,554
Ensembl chr12:73,901,375...73,947,530
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-Coenzyme A reductase IMP associated with Sepsis RGD PMID:16557230 RGD:5508471 NCBI chr13:96,648,962...96,670,936
Ensembl chr13:96,648,967...96,670,936
JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO associated with Sepsis
CTD Direct Evidence: therapeutic
CTD PMID:21048024, PMID:23807243 RGD:10755583 NCBI chr 8:75,093,618...75,100,593
Ensembl chr 8:75,093,621...75,100,589
JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000, PMID:19270397 RGD:11041863 NCBI chr 8:109,575,128...109,579,172
Ensembl chr 8:109,575,128...109,579,172
JBrowse link
G Hpx hemopexin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 7:105,591,611...105,600,116
Ensembl chr 7:105,591,613...105,600,137
JBrowse link
G Hspa1a heat shock protein 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12690470, PMID:19546256 NCBI chr17:34,969,359...34,972,156
Ensembl chr17:34,969,190...34,972,156
JBrowse link
G Hspa8 heat shock protein 8 ISO protein:increased expression:kidney, lysosome (rat) RGD PMID:14966137 RGD:7242786 NCBI chr 9:40,801,276...40,805,202
Ensembl chr 9:40,800,984...40,810,087
JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment ISO RGD PMID:22659586 RGD:7175102 NCBI chr 9:21,015,940...21,028,814
Ensembl chr 9:21,015,985...21,028,817
JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:7540432 NCBI chr10:87,858,265...87,937,047
Ensembl chr10:87,858,265...87,937,042
JBrowse link
G Igf1r insulin-like growth factor I receptor ISO mRNA: decreased expression: kidney: both cortex and medulla RGD PMID:9767523 RGD:7242908 NCBI chr 7:67,952,257...68,233,668
Ensembl chr 7:67,952,827...68,233,668
JBrowse link
G Igfbp1 insulin-like growth factor binding protein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:7540432 NCBI chr11:7,197,787...7,202,546
Ensembl chr11:7,197,782...7,202,546
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18460982 NCBI chr 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
JBrowse link
G Il18 interleukin 18 IMP RGD PMID:11342578 RGD:6893450 NCBI chr 9:50,554,700...50,581,841
Ensembl chr 9:50,554,827...50,581,840
JBrowse link
G Il1a interleukin 1 alpha IMP RGD PMID:21716595 RGD:6907069 NCBI chr 2:129,299,609...129,310,186
Ensembl chr 2:129,299,610...129,309,972
JBrowse link
G Il1b interleukin 1 beta ISO
IEP
IDA
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 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO
IDA
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 2:24,336,860...24,351,491
Ensembl chr 2:24,336,853...24,351,494
JBrowse link
G Il20 interleukin 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18496552 NCBI chr 1:130,906,985...130,911,296
Ensembl chr 1:130,906,985...130,911,451
JBrowse link
G Il6 interleukin 6 ISO associated with Acute Lung Injury;protein:increased expression:plasma
CTD Direct Evidence: therapeutic
CTD PMID:21570986, PMID:18074478 RGD:5128661 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Ins2 insulin II ISO CTD Direct Evidence: marker/mechanism CTD PMID:12243603 NCBI chr 7:142,678,656...142,679,726
Ensembl chr 7:142,678,656...142,743,381
JBrowse link
G Klk1 kallikrein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18227104 NCBI chr 7:44,225,360...44,229,622
Ensembl chr 7:44,225,360...44,229,618
JBrowse link
G Kng2 kininogen 2 ISO CTD Direct Evidence: therapeutic CTD PMID:513486, PMID:3015452 NCBI chr16:22,985,852...23,029,101
Ensembl chr16:22,985,854...23,029,482
JBrowse link
G Lcn2 lipocalin 2 ISO protein:increased expression:urine
CTD Direct Evidence: marker/mechanism
CTD PMID:20623750, PMID:22005293, PMID:23052191, PMID:27888128, PMID:28885000, PMID:23683031 RGD:7244370 NCBI chr 2:32,384,637...32,387,739
Ensembl chr 2:32,384,633...32,388,252
JBrowse link
G Lgals3 lectin, galactose binding, soluble 3 ISO mRNA:increased expression:kidney RGD PMID:10980121 RGD:9685228 NCBI chr14:47,373,860...47,386,167
Ensembl chr14:47,367,751...47,386,160
JBrowse link
G Lrp2 low density lipoprotein receptor-related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29286200 NCBI chr 2:69,424,335...69,586,029
Ensembl chr 2:69,424,340...69,586,065
JBrowse link
G Mb myoglobin ISO protein: increased expression: serum RGD PMID:23497406, PMID:9822635 RGD:7244253, RGD:7244259 NCBI chr15:77,015,487...77,050,668
Ensembl chr15:77,015,487...77,050,670
JBrowse link
G Met met proto-oncogene ISO protein:increased expression:renal parenchyma (rat) RGD PMID:17940345 RGD:2317469 NCBI chr 6:17,463,349...17,573,980
Ensembl chr 6:17,463,800...17,573,980
JBrowse link
G Mfn1 mitofusin 1 ISO protein:decreased expression:kidney (rat) RGD PMID:26480480 RGD:12910862 NCBI chr 3:32,529,443...32,579,225
Ensembl chr 3:32,529,465...32,579,239
JBrowse link
G Mir10a microRNA 10a ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr11:96,317,165...96,317,274
Ensembl chr11:96,317,165...96,317,274
JBrowse link
G Mir122 microRNA 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr18:65,248,861...65,248,926
Ensembl chr18:65,248,861...65,248,926
JBrowse link
G Mir140 microRNA 140 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 8:107,551,244...107,551,313
Ensembl chr 8:107,551,244...107,551,313
JBrowse link
G Mir143 microRNA 143 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr18:61,649,196...61,649,258
Ensembl chr18:61,649,196...61,649,258
JBrowse link
G Mir146b microRNA 146b ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr19:46,342,762...46,342,870
Ensembl chr19:46,342,762...46,342,870
JBrowse link
G Mir148a microRNA 148a ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 6:51,269,812...51,269,910
Ensembl chr 6:51,269,812...51,269,910
JBrowse link
G Mir151 microRNA 151 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr15:73,254,815...73,254,882
Ensembl chr15:73,254,815...73,254,882
JBrowse link
G Mir152 microRNA 152 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32583487 NCBI chr11:96,850,393...96,850,465
Ensembl chr11:96,850,393...96,850,465
JBrowse link
G Mir192 microRNA 192 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr19:6,264,844...6,264,932
Ensembl chr19:6,264,844...6,264,932
JBrowse link
G Mir215 microRNA 215 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 1:185,313,581...185,313,692
Ensembl chr 1:185,313,581...185,313,692
JBrowse link
G Mir23a microRNA 23a ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 8:84,208,518...84,208,592
Ensembl chr 8:84,208,518...84,208,592
JBrowse link
G Mir25 microRNA 25 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 5:138,165,321...138,165,404
Ensembl chr 5:138,165,321...138,165,404
JBrowse link
G Mir26a-1 microRNA 26a-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 9:119,031,796...119,031,885
Ensembl chr 9:119,031,796...119,031,885
JBrowse link
G Mir30a microRNA 30a ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 1:23,272,269...23,272,339
Ensembl chr 1:23,272,269...23,272,339
JBrowse link
G Mir30d microRNA 30d ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr15:68,341,208...68,341,289
Ensembl chr15:68,341,208...68,341,289
JBrowse link
G Mir486 microRNA 486 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 8:23,142,555...23,142,682
Ensembl chr 8:23,142,555...23,142,682
JBrowse link
G Mir99a microRNA 99a ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr16:77,598,936...77,599,000
Ensembl chr16:77,598,936...77,599,000
JBrowse link
G Mirlet7i microRNA let7i ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr10:122,985,640...122,985,724
Ensembl chr10:122,985,640...122,985,724
JBrowse link
G Mpo myeloperoxidase ISO DNA:haplotye: :
CTD Direct Evidence: marker/mechanism
CTD PMID:20623750, PMID:22739978, PMID:19793022 RGD:6909168, RGD:6909185 NCBI chr11:87,793,784...87,804,412
Ensembl chr11:87,793,581...87,804,413
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17387702 NCBI chr 4:148,039,077...148,059,562
Ensembl chr 4:148,039,077...148,059,551
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:23022334 RGD:7245507 NCBI chr 4:148,448,582...148,557,685
Ensembl chr 4:148,448,611...148,557,683
JBrowse link
G Muc20 mucin 20 IEP RGD PMID:14565953 RGD:7364790 NCBI chr16:32,777,419...32,797,435
Ensembl chr16:32,777,419...32,797,435
JBrowse link
G Mug1 murinoglobulin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 6:121,838,496...121,889,057
Ensembl chr 6:121,838,541...121,889,057
JBrowse link
G Myc myelocytomatosis oncogene susceptibility IEP protein:decreased phosphorylation:kidney (mouse) RGD PMID:23228991 RGD:7207407 NCBI chr15:61,985,341...61,990,361
Ensembl chr15:61,985,391...61,990,374
JBrowse link
G Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 ISO RGD PMID:22160772 RGD:13801199 NCBI chr19:44,548,571...44,555,442
Ensembl chr19:44,548,572...44,555,440
JBrowse link
G Nes nestin ISO RGD PMID:24503548 RGD:11570523 NCBI chr 3:87,971,093...87,980,451
Ensembl chr 3:87,971,078...87,980,451
JBrowse link
G Nfe2l2 nuclear factor, erythroid derived 2, like 2 treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:24958931, PMID:24291173 RGD:10412697 NCBI chr 2:75,675,513...75,704,663
Ensembl chr 2:75,675,513...75,704,641
JBrowse link
G Nfkb1 nuclear factor of kappa light polypeptide gene enhancer in B cells 1, p105 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29286200 NCBI chr 3:135,584,655...135,691,969
Ensembl chr 3:135,584,655...135,691,547
JBrowse link
G Nos1 nitric oxide synthase 1, neuronal ISO RGD PMID:14531809 RGD:13825139 NCBI chr 5:117,866,839...117,958,840
Ensembl chr 5:117,781,032...117,958,840
JBrowse link
G Nos2 nitric oxide synthase 2, inducible ISO CTD Direct Evidence: marker/mechanism CTD PMID:9810145 NCBI chr11:78,920,787...78,960,226
Ensembl chr11:78,920,787...78,960,254
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO CTD Direct Evidence: marker/mechanism
in females;mRNA:increased expression:cortex of kidney (rat)
CTD PMID:9788586, PMID:28947737 RGD:13450947 NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
G Nppa natriuretic peptide type A ISO mRNA:increased expression:kidney
CTD Direct Evidence: marker/mechanism|therapeutic
CTD PMID:1825077, PMID:2948068, PMID:19298916, PMID:22209992 RGD:7247715 NCBI chr 4:148,000,722...148,002,074
Ensembl chr 4:148,000,722...148,002,079
JBrowse link
G Nppb natriuretic peptide type B ISO 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 4:147,985,786...147,987,205
Ensembl chr 4:147,985,788...147,987,205
JBrowse link
G Nqo1 NAD(P)H dehydrogenase, quinone 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:26723870, PMID:28230744 RGD:13440091 NCBI chr 8:107,388,225...107,403,205
Ensembl chr 8:107,388,225...107,403,206
JBrowse link
G Ocln occludin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19766176 NCBI chr13:100,496,504...100,552,718
Ensembl chr13:100,496,507...100,552,718
JBrowse link
G Orm1 orosomucoid 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 4:63,344,556...63,348,163
Ensembl chr 4:63,344,560...63,348,163
JBrowse link
G Parp1 poly (ADP-ribose) polymerase family, member 1 IMP RGD PMID:21884784 RGD:5510015 NCBI chr 1:180,568,891...180,600,999
Ensembl chr 1:180,568,924...180,601,254
JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel ISO protein:altered localization RGD PMID:12089381 RGD:7175293 NCBI chr 5:104,453,982...104,505,819
Ensembl chr 5:104,459,450...104,505,819
JBrowse link
G Plat plasminogen activator, tissue ISO protein:increased expression:plasma (human) RGD PMID:9767551 RGD:11541071 NCBI chr 8:22,757,722...22,782,848
Ensembl chr 8:22,757,727...22,782,844
JBrowse link
G Plg plasminogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr17:12,378,609...12,419,384
Ensembl chr17:12,378,608...12,419,385
JBrowse link
G Pomc pro-opiomelanocortin-alpha ISO CTD Direct Evidence: therapeutic CTD PMID:17216604 NCBI chr12:3,954,945...3,960,643
Ensembl chr12:3,954,951...3,960,642
JBrowse link
G Pparg peroxisome proliferator activated receptor gamma treatment ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:20623750, PMID:24011919, PMID:24433871, PMID:17494862 RGD:8553020 NCBI chr 6:115,360,879...115,490,404
Ensembl chr 6:115,360,951...115,490,399
JBrowse link
G Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha IEP
IMP
associated with Endotoxemia; mRNA:decreased expression:kidney (mouse) RGD PMID:21881206, PMID:21881206 RGD:7242026, RGD:7242026 NCBI chr 5:51,454,249...52,115,853
Ensembl chr 5:51,454,250...51,567,726
JBrowse link
G Proc protein C treatment ISO RGD PMID:19092124 RGD:11250410 NCBI chr18:32,123,126...32,139,570
Ensembl chr18:32,123,126...32,139,570
JBrowse link
G Procr protein C receptor, endothelial treatment ISO associated with Sepsis RGD PMID:23807243 RGD:10755583 NCBI chr 2:155,751,125...155,755,478
Ensembl chr 2:155,751,117...155,755,471
JBrowse link
G Ptafr platelet-activating factor receptor treatment ISO associated with Endotoxemia RGD PMID:2538527 RGD:10043182 NCBI chr 4:132,564,067...132,582,683
Ensembl chr 4:132,564,067...132,582,683
JBrowse link
G Ptger4 prostaglandin E receptor 4 (subtype EP4) treatment ISO RGD PMID:16871242 RGD:10003092 NCBI chr15:5,233,399...5,244,187
Ensembl chr15:5,206,661...5,244,187
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:21893983 RGD:5508181 NCBI chr 1:150,100,031...150,108,234
Ensembl chr 1:150,100,031...150,108,227
JBrowse link
G Rapgef3 Rap guanine nucleotide exchange factor (GEF) 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21745194 NCBI chr15:97,744,770...97,768,419
Ensembl chr15:97,744,770...97,767,972
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO associated with Sepsis;protein:increased phosphorylation:kidney RGD PMID:19428114 RGD:8547990 NCBI chr14:73,192,858...73,325,951
Ensembl chr14:73,183,673...73,325,822
JBrowse link
G Scgb1a1 secretoglobin, family 1A, member 1 (uteroglobin) ISO associated with LPS induced endotoxemia RGD PMID:18824919 RGD:2313129 NCBI chr19:9,083,642...9,087,956
Ensembl chr19:9,083,636...9,087,958
JBrowse link
G Serpinc1 serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1 ISO associated with heart failure; protein:decreased activity:plasma: RGD PMID:26108065 RGD:11354006 NCBI chr 1:160,978,583...161,002,543
Ensembl chr 1:160,978,585...161,005,863
JBrowse link
G Sirt1 sirtuin 1 severity ISO protein:increased expression:kidney (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:21416250, PMID:21416250 RGD:10047111 NCBI chr10:63,319,005...63,339,035
Ensembl chr10:63,319,005...63,381,704
JBrowse link
G Slc11a1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20623750 NCBI chr 1:74,375,014...74,386,057
Ensembl chr 1:74,375,195...74,386,062
JBrowse link
G Slc22a1 solute carrier family 22 (organic cation transporter), member 1 treatment ISO RGD PMID:22414646 RGD:7243179 NCBI chr17:12,648,874...12,675,838
Ensembl chr17:12,648,869...12,675,829
JBrowse link
G Slc22a12 solute carrier family 22 (organic anion/cation transporter), member 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14655203 NCBI chr19:6,535,854...6,543,070
Ensembl chr19:6,535,845...6,543,032
JBrowse link
G Slc22a2 solute carrier family 22 (organic cation transporter), member 2 treatment
susceptibility
ISO DNA:SNP: :808G>T (rs316019) human
mRNA:decreased expression:kidney
RGD PMID:22414646, PMID:19625999, PMID:18612803 RGD:7243179, RGD:7243884, RGD:7243880 NCBI chr17:12,584,189...12,628,489
Ensembl chr17:12,584,132...12,628,488
JBrowse link
G Slc34a1 solute carrier family 34 (sodium phosphate), member 1 disease_progression IEP associated with Sepsis; protein:decreased expression:renal proximal tubule (mouse) RGD PMID:19729856 RGD:7242943 NCBI chr13:55,399,622...55,414,695
Ensembl chr13:55,398,187...55,415,592
JBrowse link
G Sod1 superoxide dismutase 1, soluble ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr16:90,220,762...90,226,333
Ensembl chr16:90,220,754...90,226,329
JBrowse link
G Spp1 secreted phosphoprotein 1 IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:11274264, PMID:20623750, PMID:22863853 RGD:6903264 NCBI chr 5:104,435,111...104,441,053
Ensembl chr 5:104,435,118...104,441,050
JBrowse link
G Tff3 trefoil factor 3, intestinal ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chr17:31,125,306...31,129,611
Ensembl chr17:31,125,306...31,129,646
JBrowse link
G Tgfa transforming growth factor alpha ISO mRNA:increased expression:kidney RGD PMID:11340354 RGD:10395241 NCBI chr 6:86,195,038...86,275,744
Ensembl chr 6:86,195,223...86,275,719
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10469268 NCBI chr 7:25,687,002...25,705,077
Ensembl chr 7:25,687,002...25,705,077
JBrowse link
G Thbd thrombomodulin treatment ISO RGD PMID:19176699, PMID:17804460 RGD:5684994, RGD:5685010 NCBI chr 2:148,404,471...148,408,188
Ensembl chr 2:148,404,466...148,408,188
JBrowse link
G Tlr2 toll-like receptor 2 IMP
ISO
associated with Sepsis
CTD Direct Evidence: marker/mechanism
CTD PMID:29286200, PMID:22655058 RGD:7207898 NCBI chr 3:83,836,272...83,841,824
Ensembl chr 3:83,836,272...83,841,767
JBrowse link
G Tlr4 toll-like receptor 4 treatment IMP
ISO
IEP
associated with Sepsis
CTD Direct Evidence: marker/mechanism
CTD PMID:29286200, PMID:22655058, PMID:16638912, PMID:22266601 RGD:7207898, RGD:7241084, RGD:6892690 NCBI chr 4:66,827,551...66,846,581
Ensembl chr 4:66,827,584...66,930,284
JBrowse link
G Tlr9 toll-like receptor 9 IMP associated with Sepsis RGD PMID:23548820 RGD:7245966 NCBI chr 9:106,222,598...106,226,876
Ensembl chr 9:106,222,598...106,226,883
JBrowse link
G Tnf tumor necrosis factor susceptibility IMP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:16595132, PMID:18460982, PMID:20623750, PMID:21150875 RGD:7245548 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Tnfrsf12a tumor necrosis factor receptor superfamily, member 12a ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chr17:23,675,445...23,677,449
Ensembl chr17:23,675,445...23,677,468
JBrowse link
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a susceptibility ISO
IMP
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 6:125,349,723...125,362,483
Ensembl chr 6:125,349,362...125,362,484
JBrowse link
G Tnfrsf1b tumor necrosis factor receptor superfamily, member 1b ISO
IMP
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 4:145,212,368...145,246,870
Ensembl chr 4:145,213,463...145,246,870
JBrowse link
G Trf transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 9:103,208,876...103,230,286
Ensembl chr 9:103,204,001...103,230,444
JBrowse link
G Trp53 transformation related protein 53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20603111 NCBI chr11:69,580,348...69,591,873
Ensembl chr11:69,580,359...69,591,873
JBrowse link
G Ttr transthyretin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr18:20,664,209...20,674,326
Ensembl chr18:20,665,280...20,674,321
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase 1 family, polypeptide A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3864191 NCBI chr 1:88,211,959...88,220,002
Ensembl chr 1:88,211,959...88,218,997
JBrowse link
G Ugt1a9 UDP glucuronosyltransferase 1 family, polypeptide A9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20623750 NCBI chr 1:88,070,779...88,220,002
Ensembl chr 1:88,070,800...88,218,997
JBrowse link
G Uox urate oxidase ISO CTD Direct Evidence: therapeutic CTD PMID:16313266 NCBI chr 3:146,597,149...146,631,483
Ensembl chr 3:146,570,426...146,632,305
JBrowse link
G Uts2r urotensin 2 receptor ISO RGD PMID:15146030 RGD:2306847 NCBI chr11:121,160,271...121,161,973
Ensembl chr11:121,160,271...121,161,973
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:20943766, PMID:22808199 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
JBrowse link
G Wnt4 wingless-type MMTV integration site family, member 4 ISO RGD PMID:12707392 RGD:727218 NCBI chr 4:137,277,635...137,299,501
Ensembl chr 4:137,277,489...137,299,726
JBrowse link
G Xdh xanthine dehydrogenase treatment ISO
IDA
associated with Reperfusion Injury RGD PMID:22571266, PMID:18539378, PMID:19628223 RGD:7247641, RGD:7247656, RGD:7247650 NCBI chr17:73,883,895...73,950,397
Ensembl chr17:73,883,895...73,950,196
JBrowse link
acute kidney tubular necrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak4 adenylate kinase 4 ISO protein:decreased expression:kidney (rat) RGD PMID:21152904 RGD:5134352 NCBI chr 4:101,416,478...101,467,771
Ensembl chr 4:101,419,277...101,466,995
JBrowse link
G Bmp7 bone morphogenetic protein 7 ISO associated with Kidney Reperfusion Injury;protein:increased expression:kidney RGD PMID:16284088 RGD:1601494 NCBI chr 2:172,868,012...172,940,321
Ensembl chr 2:172,868,012...172,940,321
JBrowse link
G Cct7 chaperonin containing Tcp1, subunit 7 (eta) ISO CTD Direct Evidence: marker/mechanism CTD PMID:31825490 NCBI chr 6:85,451,505...85,468,477
Ensembl chr 6:85,451,514...85,468,475
JBrowse link
G Ciita class II transactivator IEP mRNA:increased expression:kidney RGD PMID:9422398 RGD:7242901 NCBI chr16:10,480,014...10,531,064
Ensembl chr16:10,480,059...10,528,418
JBrowse link
G Fabp1 fatty acid binding protein 1, liver ISO CTD Direct Evidence: therapeutic CTD PMID:18368030 NCBI chr 6:71,199,879...71,205,034
Ensembl chr 6:71,199,827...71,205,023
JBrowse link
G Gsr glutathione reductase IMP
ISO
protein:decreased activity:renal cortex: RGD PMID:17078987, PMID:12885594 RGD:7257555, RGD:7257573 NCBI chr 8:33,653,238...33,698,162
Ensembl chr 8:33,652,523...33,698,163
JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO protein:increased expression:kidney tubule, urine: RGD PMID:12081583 RGD:7245970 NCBI chr11:46,739,822...46,779,578
Ensembl chr11:46,735,080...46,779,578
JBrowse link
G Nog noggin ISO associated with Kidney Reperfusion Injury RGD PMID:16284088 RGD:1601494 NCBI chr11:89,300,638...89,302,559
Ensembl chr11:89,300,638...89,302,332
JBrowse link
G Pomc pro-opiomelanocortin-alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:4358912, PMID:6254450 NCBI chr12:3,954,945...3,960,643
Ensembl chr12:3,954,951...3,960,642
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19834340 NCBI chr15:85,734,910...85,806,851
Ensembl chr15:85,734,983...85,802,819
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO CTD Direct Evidence: therapeutic CTD PMID:19917352 NCBI chr17:13,007,839...13,018,119
Ensembl chr17:13,006,846...13,040,063
JBrowse link
G Tek TEK receptor tyrosine kinase ISO associated with Kidney Reperfusion Injury RGD PMID:16284088 RGD:1601494 NCBI chr 4:94,739,086...94,874,976
Ensembl chr 4:94,739,289...94,874,976
JBrowse link
acute pyelonephritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcr2 chemokine (C-X-C motif) receptor 2 susceptibility ISO DNA:polymorphism:3' utr:1208C>T (human) RGD PMID:22325052 RGD:7207860 NCBI chr 1:74,153,994...74,161,246
Ensembl chr 1:74,153,989...74,161,246
JBrowse link
Acute Tubulointerstitial Nephritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A-I ISO RGD PMID:22659101 RGD:7241207 NCBI chr 9:46,228,630...46,230,469
Ensembl chr 9:46,228,580...46,230,466
JBrowse link
G Tlr2 toll-like receptor 2 IMP RGD PMID:22194975 RGD:7207900 NCBI chr 3:83,836,272...83,841,824
Ensembl chr 3:83,836,272...83,841,767
JBrowse link
G Tlr4 toll-like receptor 4 IMP RGD PMID:22194975 RGD:7207900 NCBI chr 4:66,827,551...66,846,581
Ensembl chr 4:66,827,584...66,930,284
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
IEA
ClinVar Annotator: match by OMIM:614723
ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency
ClinVar
MouseDO
OMIM
PMID:1353080, PMID:1673292, PMID:1985452, PMID:2135300, PMID:2227951, PMID:2502918, PMID:3343350, PMID:3554238, PMID:3680503, PMID:7685481, PMID:7915931, PMID:8882882, PMID:9298830, PMID:9521589, PMID:10393170, PMID:11243733, PMID:19435978, PMID:25741868, PMID:28492532 NCBI chr 8:122,574,637...122,576,907
Ensembl chr 8:122,574,635...122,576,909
JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfate sulfatase ISO ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency ClinVar PMID:25741868, PMID:28492532 NCBI chr 8:122,578,237...122,611,701
Ensembl chr 8:122,578,242...122,611,463
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 IMP RGD PMID:2 RGD:1303381 NCBI chr13:30,336,356...30,382,867
Ensembl chr13:30,336,441...30,382,867
JBrowse link
G Agtr2 angiotensin II receptor, type 2 IDA RGD PMID:2 RGD:1303381 NCBI chr  X:21,484,624...21,488,833
Ensembl chr  X:21,484,544...21,489,164
JBrowse link
G Egf epidermal growth factor ISO RGD PMID:19357719 RGD:6906909 NCBI chr 3:129,677,574...129,755,322
Ensembl chr 3:129,677,565...129,755,316
JBrowse link
G Hp haptoglobin ISO protein:increased expression:urine RGD PMID:19279121 RGD:11041816 NCBI chr 8:109,575,128...109,579,172
Ensembl chr 8:109,575,128...109,579,172
JBrowse link
G Mtor mechanistic target of rapamycin kinase IMP
ISO
RGD PMID:23678040, PMID:23678040 RGD:7245474, RGD:7245474 NCBI chr 4:148,448,582...148,557,685
Ensembl chr 4:148,448,611...148,557,683
JBrowse link
G Myh9 myosin, heavy polypeptide 9, non-muscle ISO protein:decreased expression:glomerulus RGD PMID:22313957 RGD:6903274 NCBI chr15:77,760,585...77,842,175
Ensembl chr15:77,760,587...77,842,175
JBrowse link
G Notch4 notch 4 ISO protein: increased expression: kidney RGD PMID:20706108, PMID:20706108 RGD:6480788, RGD:6480788 NCBI chr17:34,564,286...34,588,543
Ensembl chr17:34,564,268...34,588,503
JBrowse link
G Nphs1 nephrosis 1, nephrin treatment IEP RGD PMID:19188342, PMID:17229913 RGD:38596324, RGD:38599164 NCBI chr 7:30,458,207...30,488,623
Ensembl chr 7:30,458,315...30,487,223
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 (peptidyl-dipeptidase A) 1 treatment ISO associated with Diabetes Mellitus, Type 1;protein:increased activity:serum (human)
associated with Diabetic Nephropathies
CTD Direct Evidence: marker/mechanism
CTD PMID:23733546, PMID:1336356, PMID:16902320 RGD:7829770, RGD:12879427 NCBI chr11:105,967,948...105,989,964
Ensembl chr11:105,967,945...105,989,964
JBrowse link
G Adm adrenomedullin ISO associated with Hypertension RGD PMID:19424162 RGD:2313311 NCBI chr 7:110,627,657...110,629,820
Ensembl chr 7:110,627,661...110,629,820
JBrowse link
G Ager advanced glycosylation end product-specific receptor treatment ISO
IMP
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 chr17:34,597,460...34,600,937
Ensembl chr17:34,597,862...34,600,936
JBrowse link
G Agt angiotensinogen (serpin peptidase inhibitor, clade A, member 8) ISO CTD Direct Evidence: marker/mechanism CTD PMID:12414515, PMID:18679781, PMID:21896938, PMID:15118671 RGD:1331525 NCBI chr 8:124,556,587...124,569,706
Ensembl chr 8:124,556,534...124,569,706
JBrowse link
G Akr1b3 aldo-keto reductase family 1, member B3 (aldose reductase) ISO associated with Diabetes Mellitus, Experimental;human gene in a rat model RGD PMID:12166624 RGD:8548813 NCBI chr 6:34,303,930...34,317,489
Ensembl chr 6:34,302,434...34,317,478
JBrowse link
G Alb albumin ISO associated with Diabetes Mellitus, Insulin-Dependent
associated with hypertension
RGD PMID:19414946, PMID:15102963 RGD:2306884, RGD:1601157 NCBI chr 5:90,460,870...90,476,602
Ensembl chr 5:90,460,897...90,476,602
JBrowse link
G Alox12 arachidonate 12-lipoxygenase ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphism:cds:p.R261Q (human) RGD PMID:18640486 RGD:2313875 NCBI chr11:70,241,457...70,255,380
Ensembl chr11:70,241,457...70,255,353
JBrowse link
G B2m beta-2 microglobulin ISO associated with HIV infections;protein:increased expression:urine RGD PMID:18469311 RGD:6482713 NCBI chr 2:122,147,687...122,153,082
Ensembl chr 2:122,147,686...122,153,083
JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 9:5,298,517...5,307,281
Ensembl chr 9:5,298,508...5,307,290
JBrowse link
G Casr calcium-sensing receptor ISO associated with Uremia RGD PMID:19188910 RGD:7205661 NCBI chr16:36,490,585...36,562,141
Ensembl chr16:36,493,696...36,562,141
JBrowse link
G Ccl4 chemokine (C-C motif) ligand 4 ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:urine RGD PMID:21113841 RGD:5683918 NCBI chr11:83,648,624...83,664,683
Ensembl chr11:83,662,584...83,664,683
JBrowse link
G Cd38 CD38 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:21992601 NCBI chr 5:43,868,809...43,912,374
Ensembl chr 5:43,868,553...43,912,375
JBrowse link
G Ciita class II transactivator ISO DNA:polymorphism:promoter:-168A>G, in non-diabetic subjects (human) RGD PMID:17183695 RGD:5491201 NCBI chr16:10,480,014...10,531,064
Ensembl chr16:10,480,059...10,528,418
JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21752484 NCBI chr 3:19,956,933...20,009,750
Ensembl chr 3:19,957,054...20,009,145
JBrowse link
G Crp C-reactive protein, pentraxin-related severity ISO associated with Anemia, Sickle Cell; protein:increased expression:serum
associated with hypertension
RGD PMID:20710104, PMID:20016210 RGD:6907441, RGD:6909147 NCBI chr 1:172,698,056...172,699,966
Ensembl chr 1:172,698,055...172,833,031
JBrowse link
G Csf1 colony stimulating factor 1 (macrophage) treatment ISO associated with Hypercholesterolemia and Diabetes Mellitus, Experimental RGD PMID:8573750 RGD:7257591 NCBI chr 3:107,741,048...107,760,469
Ensembl chr 3:107,741,048...107,760,469
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 2:148,871,722...148,875,512
Ensembl chr 2:148,871,722...148,875,692
JBrowse link
G Ctsb cathepsin B ISO associated with Hypertension RGD PMID:19023196 RGD:2315726 NCBI chr14:63,122,462...63,145,923
Ensembl chr14:63,122,462...63,145,923
JBrowse link
G Ctsl cathepsin L ISO associated with Hypertension RGD PMID:19023196 RGD:2315726 NCBI chr13:64,361,890...64,370,772
Ensembl chr13:64,359,337...64,370,890
JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO RGD PMID:15939810 RGD:2307307 NCBI chr15:74,850,618...74,856,231
Ensembl chr15:74,851,010...74,856,318
JBrowse link
G Drd1 dopamine receptor D1 ISO DNA:polymorphism:5' utr:g.-94G>A rs5326 (human) RGD PMID:17353515 RGD:7248452 NCBI chr13:54,051,183...54,055,658
Ensembl chr13:54,051,183...54,055,705
JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:renal papilla (rat) RGD PMID:20666571 RGD:4144838 NCBI chr13:42,301,476...42,307,990
Ensembl chr13:42,301,476...42,307,990
JBrowse link
G Epo erythropoietin ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:urine,serum RGD PMID:16921186 RGD:2313841 NCBI chr 5:137,483,020...137,485,816
Ensembl chr 5:137,483,020...137,533,242
JBrowse link
G F7 coagulation factor VII severity
no_association
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:9187410, PMID:8250495 RGD:2312410, RGD:2312406, RGD:2312407 NCBI chr 8:13,025,506...13,035,809
Ensembl chr 8:13,026,034...13,035,809
JBrowse link
G Fbn1 fibrillin 1 IMP associated with Hypertension RGD PMID:16380460 RGD:7365080 NCBI chr 2:125,300,594...125,506,485
Ensembl chr 2:125,300,594...125,507,993
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 ISO associated with Diabetes Mellitus; protein:increased activity:serum RGD PMID:15890893 RGD:2315606 NCBI chr10:75,561,076...75,586,193
Ensembl chr10:75,561,604...75,586,200
JBrowse link
G Gnaq guanine nucleotide binding protein, alpha q polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:16267159 NCBI chr19:16,132,684...16,388,520
Ensembl chr19:16,132,831...16,387,463
JBrowse link
G Gpc5 glypican 5 ISO CTD Direct Evidence: therapeutic CTD PMID:21441931 NCBI chr14:115,092,201...116,525,192
Ensembl chr14:115,092,215...116,525,179
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 chr11:46,739,822...46,779,578
Ensembl chr11:46,735,080...46,779,578
JBrowse link
G Igf1 insulin-like growth factor 1 susceptibility ISO RGD PMID:16645019 RGD:1598420 NCBI chr10:87,858,265...87,937,047
Ensembl chr10:87,858,265...87,937,042
JBrowse link
G Il1b interleukin 1 beta IDA RGD PMID:23103566 RGD:7175089 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17167242 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Ins2 insulin II ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:9861226, PMID:29420703 NCBI chr 7:142,678,656...142,679,726
Ensembl chr 7:142,678,656...142,743,381
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 4:101,717,137...101,815,352
Ensembl chr 4:101,717,404...101,815,352
JBrowse link
G Lipc lipase, hepatic ISO associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma (human) RGD PMID:8666151 RGD:2308836 NCBI chr 9:70,798,128...70,952,221
Ensembl chr 9:70,798,128...70,952,226
JBrowse link
G Lrp2 low density lipoprotein receptor-related protein 2 ISO RGD PMID:12121845 RGD:1641839 NCBI chr 2:69,424,335...69,586,029
Ensembl chr 2:69,424,340...69,586,065
JBrowse link
G Mir130a microRNA 130a ISO CTD Direct Evidence: marker/mechanism CTD PMID:24223694 NCBI chr 2:84,741,115...84,741,178
Ensembl chr 2:84,741,115...84,741,178
JBrowse link
G Mir145a microRNA 145a ISO CTD Direct Evidence: marker/mechanism CTD PMID:24223694 NCBI chr18:61,647,825...61,647,894
Ensembl chr18:61,647,825...61,647,894
JBrowse link
G Mir155 microRNA 155 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24223694 NCBI chr16:84,714,140...84,714,204
Ensembl chr16:84,714,140...84,714,204
JBrowse link
G Mir322 microRNA 322 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24223694 NCBI chr  X:53,054,255...53,054,349
Ensembl chr  X:53,054,255...53,054,349
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 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
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 4:148,039,077...148,059,562
Ensembl chr 4:148,039,077...148,059,551
JBrowse link
G Myh9 myosin, heavy polypeptide 9, non-muscle ISO associated with hypertension;DNA:SNPs: : RGD PMID:19153477 RGD:6903241 NCBI chr15:77,760,585...77,842,175
Ensembl chr15:77,760,587...77,842,175
JBrowse link
G Nck1 non-catalytic region of tyrosine kinase adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr 9:100,494,302...100,546,134
Ensembl chr 9:100,492,293...100,546,134
JBrowse link
G Nck2 non-catalytic region of tyrosine kinase adaptor protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr 1:43,445,483...43,570,518
Ensembl chr 1:43,444,579...43,570,515
JBrowse link
G Nphs2 nephrosis 2, podocin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15684566 NCBI chr 1:156,310,535...156,328,035
Ensembl chr 1:156,310,727...156,328,035
JBrowse link
G Pdpn podoplanin ISO RGD PMID:18199599 RGD:2292240 NCBI chr 4:143,267,409...143,299,564
Ensembl chr 4:143,267,431...143,299,564
JBrowse link
G Pon1 paraoxonase 1 ISO DNA:polymorphisms:promoter, cds (human) RGD PMID:16949520 RGD:2313272 NCBI chr 6:5,168,090...5,193,987
Ensembl chr 6:5,168,090...5,193,946
JBrowse link
G Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha ISO associated with Diabetes Mellitus, Type 2; DNA:snp:cds:g.75919G>A rs8192678 (human) RGD PMID:22684233 RGD:7242025 NCBI chr 5:51,454,249...52,115,853
Ensembl chr 5:51,454,250...51,567,726
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17890881 NCBI chr 1:150,100,031...150,108,234
Ensembl chr 1:150,100,031...150,108,227
JBrowse link
G Pth parathyroid hormone ISO associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human) RGD PMID:23066118 RGD:7242730 NCBI chr 7:113,385,576...113,388,672
Ensembl chr 7:113,385,580...113,388,570
JBrowse link
G Pycard PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 7:127,991,373...127,993,867
Ensembl chr 7:127,989,708...127,993,867
JBrowse link
G Rab38 RAB38, member RAS oncogene family ISO RGD PMID:15758045 RGD:1357409 NCBI chr 7:88,430,273...88,491,572
Ensembl chr 7:88,430,273...88,491,572
JBrowse link
G Ren1 renin 1 structural ISO CTD Direct Evidence: marker/mechanism CTD PMID:12414515, PMID:18679781 NCBI chr 1:133,350,674...133,360,320
Ensembl chr 1:133,350,510...133,360,325
JBrowse link
G Ren2 renin 2 tandem duplication of Ren1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12586211, PMID:27428043
G Retn resistin ISO associated with Hypertension;protein:increased expression:blood RGD PMID:20203628 RGD:7207150 NCBI chr 8:3,655,770...3,659,818
Ensembl chr 8:3,655,770...3,660,110
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 ISO associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human) RGD PMID:9201602 RGD:8547710 NCBI chr 5:137,061,504...137,072,272
Ensembl chr 5:137,061,504...137,072,268
JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 treatment ISO associated with Diabetes Mellitus, Experimental; human gene in a rat model RGD PMID:16731830 RGD:8554875 NCBI chr11:75,410,029...75,422,623
Ensembl chr11:75,409,769...75,422,701
JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO RGD PMID:25776069 RGD:13442483 NCBI chr 5:121,815,481...121,837,645
Ensembl chr 5:121,815,488...121,837,646
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:17942768 NCBI chr17:13,007,839...13,018,119
Ensembl chr17:13,006,846...13,040,063
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:18443355 RGD:6903862 NCBI chr 5:104,435,111...104,441,053
Ensembl chr 5:104,435,118...104,441,050
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17167242 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Trpc3 transient receptor potential cation channel, subfamily C, member 3 ISO associated with Hypertension;mRNA, protein:increased expression:kidney cortex RGD PMID:19887786 RGD:7247603 NCBI chr 3:36,620,482...36,690,429
Ensembl chr 3:36,620,482...36,690,167
JBrowse link
G Trpc5 transient receptor potential cation channel, subfamily C, member 5 IMP RGD PMID:24231357 RGD:10043830 NCBI chr  X:144,377,327...144,688,180
Ensembl chr  X:144,381,671...144,688,180
JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 IGI
ISO
associated with Hypertension;mRNA:decreased expression:kidney cortex RGD PMID:21839714, PMID:19887786 RGD:7247445, RGD:7247603 NCBI chr 9:8,543,867...8,680,752
Ensembl chr 9:8,544,142...8,680,741
JBrowse link
G Tslp thymic stromal lymphopoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17686814 NCBI chr18:32,815,383...32,819,799
Ensembl chr18:32,815,383...32,819,797
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 3:116,110,020...116,129,688
Ensembl chr 3:116,109,949...116,129,688
JBrowse link
Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a3 collagen, type IV, alpha 3 susceptibility ISO DNA:deletion, nonsense mutations
ClinVar Annotator: match by term: Alport syndrome
ClinVar Annotator: match by term: Alport syndrome, autosomal dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11134255, PMID:12028435, PMID:12631109, PMID:14582039, PMID:14871398, PMID:15880327, PMID:15954103, PMID:17216251, PMID:18385178, PMID:19525337, PMID:20847057, PMID:21862460, PMID:22887978, PMID:23967202, PMID:24033266, PMID:24052634, PMID:24854265, PMID:25229338, PMID:25307543, PMID:25407002, PMID:25514610, PMID:25596306, PMID:25741868, PMID:25888712, PMID:26346198, PMID:26467025, PMID:26795916, PMID:26809805, PMID:26934356, PMID:27391953, PMID:27627812, PMID:27859054, PMID:28492532, PMID:28632965, PMID:7987301 RGD:1600924 NCBI chr 1:82,586,921...82,722,059
Ensembl chr 1:82,586,921...82,722,059
JBrowse link
G Col4a4 collagen, type IV, alpha 4 ISO ClinVar Annotator: match by term: Alport syndrome
ClinVar Annotator: match by term: Alport syndrome, autosomal recessive
ClinVar PMID:1721625, PMID:9792860, PMID:11134255, PMID:11685592, PMID:11961012, PMID:12028435, PMID:12631110, PMID:14582039, PMID:14871398, PMID:15618242, PMID:15880327, PMID:17216251, PMID:17396119, PMID:19129241, PMID:19675380, PMID:20029656, PMID:22887978, PMID:23349334, PMID:23967202, PMID:24033266, PMID:24130771, PMID:25381091, PMID:25514610, PMID:25575550, PMID:25741868, PMID:25755845, PMID:26467025, PMID:26809805, PMID:26934356, PMID:27884173, PMID:28059119, PMID:28492532, PMID:28780565, PMID:29098738 NCBI chr 1:82,448,419...82,587,034
Ensembl chr 1:82,448,423...82,586,849
JBrowse link
G Col4a5 collagen, type IV, alpha 5 ISO Alport Syndrome, OMIM:301050, DNA:deletion:exons
ClinVar Annotator: match by term: Alport syndrome
ClinVar PMID:8651292, PMID:9848783, PMID:10563487, PMID:11223851, PMID:18083113, PMID:19919694, PMID:23572034, PMID:25741868, PMID:26467025, PMID:27627812, PMID:28492532, PMID:2349482 RGD:1600687 NCBI chr  X:141,475,370...141,689,236
Ensembl chr  X:141,475,385...141,689,234
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO DNA:polymorphism: :HLA-DRB1*16 (human) RGD PMID:15182324 RGD:7365078 NCBI chr17:34,305,867...34,316,674
Ensembl chr17:34,305,867...34,316,674
JBrowse link
G Il1b interleukin 1 beta IDA RGD PMID:22937108 RGD:7175090 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Mmp12 matrix metallopeptidase 12 IEP RGD PMID:16816359 RGD:7241212 NCBI chr 9:7,344,397...7,360,461
Ensembl chr 9:7,344,381...7,369,499
JBrowse link
G Mmp3 matrix metallopeptidase 3 IEP protein:increased expression:kidney RGD PMID:16509766 RGD:7241252 NCBI chr 9:7,445,822...7,455,975
Ensembl chr 9:7,445,822...7,455,975
JBrowse link
G Myh9 myosin, heavy polypeptide 9, non-muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:10973259 NCBI chr15:77,760,585...77,842,175
Ensembl chr15:77,760,587...77,842,175
JBrowse link
amelogenesis imperfecta type 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20a FAM20A, golgi associated secretory pathway pseudokinase ISO ClinVar Annotator: match by term: Enamel-renal syndrome
ClinVar Annotator: match by term: Amelogenesis imperfecta and gingival fibromatosis syndrome
OMIM
ClinVar
PMID:18597613, PMID:21549343, PMID:21990045, PMID:23434854, PMID:23468644, PMID:24196488, PMID:25741868 NCBI chr11:109,669,746...109,723,163
Ensembl chr11:109,669,749...109,722,279
JBrowse link
G Prkar1a protein kinase, cAMP dependent regulatory, type I, alpha ISO ClinVar Annotator: match by term: Enamel-renal syndrome
ClinVar Annotator: match by term: Amelogenesis imperfecta and gingival fibromatosis syndrome
ClinVar PMID:21990045, PMID:23434854, PMID:23468644, PMID:24196488, PMID:25741868 NCBI chr11:109,649,023...109,669,663
Ensembl chr11:109,649,405...109,669,656
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 ISO OMIM NCBI chr  X:141,165,403...141,474,095
Ensembl chr  X:141,165,403...141,474,076
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 (serpin peptidase inhibitor, clade A, member 8) ISO protein:increased expression:kidney, urine
mRNA, protein:increased expression:liver, plasma
RGD PMID:21282555, PMID:7550093 RGD:5129185, RGD:11039051 NCBI chr 8:124,556,587...124,569,706
Ensembl chr 8:124,556,534...124,569,706
JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO protein:increased expression:kidney RGD PMID:21282555 RGD:5129185 NCBI chr13:30,336,356...30,382,867
Ensembl chr13:30,336,441...30,382,867
JBrowse link
G Bax BCL2-associated X protein ISO mRNA, protein:increased expression:kidney RGD PMID:12234300 RGD:1579984 NCBI chr 7:45,461,695...45,466,903
Ensembl chr 7:45,461,697...45,466,898
JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 ISO mRNA, protein:decreased expression:kidney RGD PMID:12234300 RGD:1579984 NCBI chr 1:106,538,176...106,714,290
Ensembl chr 1:106,538,178...106,714,274
JBrowse link
G Ccl17 chemokine (C-C motif) ligand 17 ISO mRNA:increased expression:glomerulus RGD PMID:20071465 RGD:4145614 NCBI chr 8:94,809,380...94,812,038
Ensembl chr 8:94,810,453...94,812,036
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 treatment ISO mRNA:increased expression:glomerulus RGD PMID:17898087, PMID:20071465, PMID:21894146 RGD:2307059, RGD:4145614, RGD:6218988 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Ccl22 chemokine (C-C motif) ligand 22 ISO mRNA, protein:increased expression:glomerulus RGD PMID:12651599 RGD:2306306 NCBI chr 8:94,745,684...94,751,388
Ensembl chr 8:94,745,590...94,751,699
JBrowse link
G Ccl4 chemokine (C-C motif) ligand 4 ISO mRNA:increased expression:glomerulus RGD PMID:17898087 RGD:2307059 NCBI chr11:83,648,624...83,664,683
Ensembl chr11:83,662,584...83,664,683
JBrowse link
G Ccl5 chemokine (C-C motif) ligand 5 ISO mRNA:increased expression:glomerulus RGD PMID:17898087 RGD:2307059 NCBI chr11:83,525,778...83,530,518
Ensembl chr11:83,525,778...83,530,518
JBrowse link
G Cd274 CD274 antigen treatment IMP RGD PMID:21965585 RGD:7248671 NCBI chr19:29,362,107...29,388,095
Ensembl chr19:29,367,455...29,388,095
JBrowse link
G Cd40 CD40 antigen IMP RGD PMID:15210767 RGD:7248442 NCBI chr 2:165,055,614...165,071,654
Ensembl chr 2:165,055,627...165,072,948
JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:15458437 RGD:5508170 NCBI chr  X:57,212,143...57,224,042
Ensembl chr  X:57,212,143...57,224,042
JBrowse link
G Cd80 CD80 antigen ISO RGD PMID:10712436 RGD:6902936 NCBI chr16:38,457,430...38,495,958
Ensembl chr16:38,455,561...38,496,335
JBrowse link
G Cfb complement factor B IMP RGD PMID:22492944 RGD:7242700 NCBI chr17:34,856,374...34,862,514
Ensembl chr17:34,856,374...34,862,518
JBrowse link
G Clu clusterin ISO protein:increased expression:urine RGD PMID:23791361 RGD:9068422 NCBI chr14:65,968,483...65,981,548
Ensembl chr14:65,968,483...65,981,547
JBrowse link
G Csf1 colony stimulating factor 1 (macrophage) treatment ISO RGD PMID:19242505 RGD:7257569 NCBI chr 3:107,741,048...107,760,469
Ensembl chr 3:107,741,048...107,760,469
JBrowse link
G Csf1r colony stimulating factor 1 receptor treatment ISO RGD PMID:19242505 RGD:7257569 NCBI chr18:61,105,572...61,131,139
Ensembl chr18:61,100,598...61,132,149
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 treatment IMP
ISO
RGD PMID:10712436, PMID:8206086, PMID:10712436 RGD:6902936, RGD:11352257, RGD:6902936 NCBI chr 1:60,909,025...60,915,832
Ensembl chr 1:60,887,000...60,915,832
JBrowse link
G Cx3cl1 chemokine (C-X3-C motif) ligand 1 ISO mRNA, protein:increased expression:glomerulus RGD PMID:19590241 RGD:4891946 NCBI chr 8:94,772,180...94,782,427
Ensembl chr 8:94,772,009...94,782,427
JBrowse link
G Cx3cr1 chemokine (C-X3-C motif) receptor 1 ISO mRNA, protein:increased expression:glomerulus RGD PMID:19590241 RGD:4891946 NCBI chr 9:120,048,683...120,068,296
Ensembl chr 9:119,901,616...120,069,879
JBrowse link
G Cxcl12 chemokine (C-X-C motif) ligand 12 ISO mRNA:increased expression:glomerulus RGD PMID:17557270 RGD:2306579 NCBI chr 6:117,168,535...117,181,368
Ensembl chr 6:117,168,535...117,181,367
JBrowse link
G Dusp1 dual specificity phosphatase 1 ISO mRNA:increased expression:glomerulus RGD PMID:8587253 RGD:633769 NCBI chr17:26,505,591...26,508,472
Ensembl chr17:26,505,590...26,562,128
JBrowse link
G Fcgr4 Fc receptor, IgG, low affinity IV no_association ISO DNA:cnv: :
DNA:polymorphism:exon:(rs396991)(human)
RGD PMID:19946017, PMID:19640933 RGD:5508400, RGD:5508403 NCBI chr 1:171,018,926...171,029,761
Ensembl chr 1:171,018,920...171,029,761
JBrowse link
G Gp6 glycoprotein 6 (platelet) IMP RGD PMID:20651232 RGD:7242710 NCBI chr 7:4,362,853...4,397,851
Ensembl chr 7:4,363,965...4,397,744
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO DNA:polymorphism (human) RGD PMID:21569485 RGD:5147561 NCBI chr17:34,305,867...34,316,674
Ensembl chr17:34,305,867...34,316,674
JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:23826305 RGD:7365004 NCBI chr 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
JBrowse link
G Il17a interleukin 17A treatment ISO RGD PMID:23826305 RGD:7365004 NCBI chr 1:20,730,905...20,734,496
Ensembl chr 1:20,730,905...20,734,496
JBrowse link
G Il18 interleukin 18 IMP RGD PMID:22046355 RGD:6893447 NCBI chr 9:50,554,700...50,581,841
Ensembl chr 9:50,554,827...50,581,840
JBrowse link
G Il1b interleukin 1 beta IEP
ISO
mRNA:increased expression:kidney (mouse)
mRNA, protein:increased expression:kidney
RGD PMID:22046355, PMID:9198037 RGD:6893447, RGD:7401232 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO RGD PMID:20071465 RGD:4145614 NCBI chr 2:24,336,860...24,351,491
Ensembl chr 2:24,336,853...24,351,494
JBrowse link
G Il4 interleukin 4 ISO RGD PMID:9350645, PMID:17898087 RGD:2317673, RGD:2307059 NCBI chr11:53,612,460...53,618,665
Ensembl chr11:53,602,982...53,618,669
JBrowse link
G Itga4 integrin alpha 4 treatment ISO RGD PMID:9032136, PMID:7679412 RGD:2308810, RGD:9698425 NCBI chr 2:79,255,426...79,333,114
Ensembl chr 2:79,255,426...79,333,123
JBrowse link
G Mapk14 mitogen-activated protein kinase 14 ISO RGD PMID:21894146 RGD:6218988 NCBI chr17:28,691,342...28,748,405
Ensembl chr17:28,691,329...28,748,406
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:21894146 RGD:6218988 NCBI chr14:33,377,898...33,447,353
Ensembl chr14:33,377,898...33,447,158
JBrowse link
G Mif macrophage migration inhibitory factor (glycosylation-inhibiting factor) ISO RGD PMID:10780884 RGD:1642011 NCBI chr10:75,859,353...75,860,277
Ensembl chr10:75,859,353...75,860,240
JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO RGD PMID:21894146 RGD:6218988 NCBI chr 9:7,344,397...7,360,461
Ensembl chr 9:7,344,381...7,369,499
JBrowse link
G Mmp14 matrix metallopeptidase 14 (membrane-inserted) ISO mRNA:increased expression:kidney, macrophage RGD PMID:10878552 RGD:2314954 NCBI chr14:54,431,598...54,442,456
Ensembl chr14:54,431,612...54,445,364
JBrowse link
G Nos2 nitric oxide synthase 2, inducible ISO RGD PMID:21894146 RGD:6218988 NCBI chr11:78,920,787...78,960,226
Ensembl chr11:78,920,787...78,960,254
JBrowse link
G Nppb natriuretic peptide type B IDA RGD PMID:11729234 RGD:7248605 NCBI chr 4:147,985,786...147,987,205
Ensembl chr 4:147,985,788...147,987,205
JBrowse link
G Pdcd1 programmed cell death 1 treatment ISO RGD PMID:21965585 RGD:7248671 NCBI chr 1:94,038,305...94,052,553
Ensembl chr 1:94,038,305...94,052,553
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha IDA RGD PMID:17888025 RGD:5563035 NCBI chr15:85,734,910...85,806,851
Ensembl chr15:85,734,983...85,802,819
JBrowse link
G Ptk2b PTK2 protein tyrosine kinase 2 beta ISO protein:increased expression:glomerulus RGD PMID:11774117 RGD:729912 NCBI chr14:66,153,257...66,281,100
Ensembl chr14:66,153,257...66,281,052
JBrowse link
G Rapgef1 Rap guanine nucleotide exchange factor (GEF) 1 ISO protein:increased expression:renal glomerulus RGD PMID:18784646 RGD:11534983 NCBI chr 2:29,619,720...29,740,364
Ensembl chr 2:29,619,720...29,740,978
JBrowse link
G Selp selectin, platelet ISO RGD PMID:21894146 RGD:6218988 NCBI chr 1:164,115,264...164,150,026
Ensembl chr 1:164,115,264...164,150,026
JBrowse link
G Slc34a1 solute carrier family 34 (sodium phosphate), member 1 IEP protein:decreased expression:kidney, brush border membrane (mouse) RGD PMID:19193726 RGD:7242947 NCBI chr13:55,399,622...55,414,695
Ensembl chr13:55,398,187...55,415,592
JBrowse link
G Slit2 slit guidance ligand 2 ISO mRNA:decreased expression:kidney, glomerulus RGD PMID:15215188 RGD:2316132 NCBI chr 5:47,981,291...48,307,735
Ensembl chr 5:47,983,138...48,307,733
JBrowse link
G Spp1 secreted phosphoprotein 1 IEP RGD PMID:20504883 RGD:6903276 NCBI chr 5:104,435,111...104,441,053
Ensembl chr 5:104,435,118...104,441,050
JBrowse link
G Syk spleen tyrosine kinase ISO RGD PMID:21894146 RGD:6218988 NCBI chr13:52,582,610...52,648,792
Ensembl chr13:52,583,173...52,648,792
JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:21894146 RGD:6218988 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 IEP protein:increased expression:urine, serum: RGD PMID:23460853 RGD:7241232 NCBI chr 3:116,110,020...116,129,688
Ensembl chr 3:116,109,949...116,129,688
JBrowse link
G Xcl1 chemokine (C motif) ligand 1 ISO mRNA:increased expression:glomerulus RGD PMID:9717977 RGD:8693304 NCBI chr 1:164,931,644...164,935,522
Ensembl chr 1:164,931,644...164,935,527
JBrowse link
anuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen (serpin peptidase inhibitor, clade A, member 8) ISO CTD Direct Evidence: therapeutic CTD PMID:8527259 NCBI chr 8:124,556,587...124,569,706
Ensembl chr 8:124,556,534...124,569,706
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6734075 NCBI chr 5:90,460,870...90,476,602
Ensembl chr 5:90,460,897...90,476,602
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8225663 NCBI chr14:20,836,662...20,843,388
Ensembl chr14:20,836,660...20,843,385
JBrowse link
G Prkab1 protein kinase, AMP-activated, beta 1 non-catalytic subunit treatment IMP RGD PMID:27782167 RGD:39128183 NCBI chr 5:116,013,586...116,024,503
Ensembl chr 5:116,013,586...116,024,508
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
IEA
CTD Direct Evidence: marker/mechanism
OMIM:208085 | OMIM:613404
CTD
MouseDO
PMID:20190753 NCBI chr12:87,238,875...87,266,378
Ensembl chr12:87,238,868...87,266,256
JBrowse link
G Vps33b vacuolar protein sorting 33B ISO
IEA
ClinVar Annotator: match by term: Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
CTD Direct Evidence: marker/mechanism
OMIM:208085 | OMIM:613404
ClinVar
CTD
MouseDO
PMID:25741868 NCBI chr 7:80,269,621...80,291,579
Ensembl chr 7:80,269,649...80,291,754
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 chr12:87,238,875...87,266,378
Ensembl chr12:87,238,868...87,266,256
JBrowse link
G Vps33b vacuolar protein sorting 33B ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 OMIM
ClinVar
PMID:8151641, PMID:11668108, PMID:15052268, PMID:16896922, PMID:17994566, PMID:18853461, PMID:19274792, PMID:21851503, PMID:22753090, PMID:24782640, PMID:24917129, PMID:25741868, PMID:28492532, PMID:31479177 NCBI chr 7:80,269,621...80,291,579
Ensembl chr 7:80,269,649...80,291,754
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 chr12:87,238,875...87,266,378
Ensembl chr12:87,238,868...87,266,256
JBrowse link
atypical hemolytic-uremic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 13 ISO protein:decreased activity:serum (human) RGD PMID:12640381 RGD:10449096 NCBI chr 2:26,973,361...27,009,625
Ensembl chr 2:26,973,416...27,009,628
JBrowse link
G Baat bile acid-Coenzyme A: amino acid N-acyltransferase ISO ClinVar Annotator: match by term: atypical hemolytic uremic syndrome ClinVar NCBI chr 4:49,489,416...49,507,915
Ensembl chr 4:49,489,422...49,506,557
JBrowse link
G C2 complement component 2 (within H-2S) ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar PMID:2249879, PMID:6308626, PMID:8181962, PMID:16518403, PMID:16936732, PMID:18806293, PMID:20108004, PMID:20513133, PMID:21541267, PMID:22440158, PMID:24033266, PMID:24652797, PMID:25741868 NCBI chr17:34,862,602...34,882,100
Ensembl chr17:34,862,604...34,898,265
JBrowse link
G C3 complement component 3 susceptibility IGI
ISO
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612925
DNA:missense mutations: :p.F603V, p.R1042L, p.I1157T (human)
ClinVar
CTD
OMIM
PMID:1976733, PMID:14639503, PMID:17634448, PMID:18325906, PMID:18796626, PMID:19168221, PMID:20301541, PMID:20595690, PMID:23314101, PMID:23431077, PMID:24036949, PMID:24036950, PMID:24036952, PMID:24736606, PMID:24845532, PMID:25608561, PMID:25741868, PMID:25951460, PMID:26613027, PMID:28492532, PMID:17517971, PMID:20513133 RGD:7364995, RGD:11040768 NCBI chr17:57,203,967...57,228,136
Ensembl chr17:57,203,970...57,228,136
JBrowse link
G C3ar1 complement component 3a receptor 1 ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 ClinVar NCBI chr 6:122,847,140...122,856,157
Ensembl chr 6:122,847,138...122,856,161
JBrowse link
G Cd46 CD46 antigen, complement regulatory protein susceptibility
severity
ISO ClinVar Annotator: match by OMIM:612922
ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
protein:increased expression:peripheral blood mononuclear cell (human)
DNA:snp:intron:c.IVS8+23T>G (rs2724374) (human)
DNA:missense mutations:cds:p.R69W, p.A304V (human)
DNA:mutations:cds:multiple (human)
ClinVar
OMIM
CTD
PMID:270646, PMID:3480783, PMID:9551389, PMID:10528197, PMID:14566051, PMID:14615110, PMID:16621965, PMID:16762990, PMID:16882452, PMID:17089378, PMID:20513133, PMID:21706448, PMID:23431077, PMID:23731345, PMID:24033266, PMID:24161037, PMID:24247905, PMID:24944786, PMID:25381125, PMID:25525159, PMID:25741868, PMID:25899302, PMID:26054645, PMID:26307634, PMID:26559391, PMID:28056875, PMID:28492532, PMID:16353080, PMID:20513133, PMID:17914026, PMID:20595690 RGD:11352810, RGD:11040768, RGD:11352768, RGD:11038684 NCBI chr 1:195,038,971...195,098,784
Ensembl chr 1:195,036,826...195,092,249
JBrowse link
G Cfb complement factor B susceptibility ISO DNA, protein:mutations:cds: c.858C>G, F286L, c.967A>G, K323E (human)
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations: :multiple
ClinVar Annotator: match by OMIM:612924
ClinVar
OMIM
CTD
PMID:2249879, PMID:6308626, PMID:7452889, PMID:8181962, PMID:15661753, PMID:16518403, PMID:16936732, PMID:17182750, PMID:18806293, PMID:20108004, PMID:20513133, PMID:21541267, PMID:22440158, PMID:23847193, PMID:24033266, PMID:24652797, PMID:25741868, PMID:26054779, PMID:17182750, PMID:20513133 RGD:7242707, RGD:11040768 NCBI chr17:34,856,374...34,862,514
Ensembl chr17:34,856,374...34,862,518
JBrowse link
G Cfh complement component factor h susceptibility ISO
IEA
DNA:missense mutation
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations, missense mutations, splice-site mutation: :multiple
ClinVar Annotator: match by OMIM:235400
DNA:SNPs,Haplotype::
ClinVar
MouseDO
OMIM
CTD
PMID:646435, PMID:8072530, PMID:9551389, PMID:9811382, PMID:9848786, PMID:10577907, PMID:10762557, PMID:11158219, PMID:11170895, PMID:11170896, PMID:11978762, PMID:12424708, PMID:12697737, PMID:14978182, PMID:15761120, PMID:15870199, PMID:16299065, PMID:16619239, PMID:17018561, PMID:17947292, PMID:18252712, PMID:18268093, PMID:18557729, PMID:19190809, PMID:19259132, PMID:19297022, PMID:21415311, PMID:21909106, PMID:22019782, PMID:22171659, PMID:22223606, PMID:22389686, PMID:22403278, PMID:22456601, PMID:23852337, PMID:24036949, PMID:24498017, PMID:25037630, PMID:25741868, PMID:25814826, PMID:25880396, PMID:26559391, PMID:28492532, PMID:10577907, PMID:9811382, PMID:23243267, PMID:20513133, PMID:17517971 RGD:1599886, RGD:11041172, RGD:11041162, RGD:11040768, RGD:7364995 NCBI chr 1:140,085,855...140,183,411
Ensembl chr 1:140,084,708...140,183,764
JBrowse link
G Cfhr1 complement factor H-related 1 susceptibility ISO ClinVar Annotator: match by OMIM:235400
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to
DNA:deletion
ClinVar
CTD
OMIM
PMID:16998489, PMID:17367211, PMID:18006700, PMID:20843825, PMID:23243267 RGD:11041162 NCBI chr 1:139,547,064...139,560,222
Ensembl chr 1:139,547,053...139,560,272
JBrowse link
G Cfhr2 complement factor H-related 2 susceptibility ISO ClinVar Annotator: match by OMIM:235400
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to
ClinVar
CTD
OMIM
PMID:16998489, PMID:17367211, PMID:18006700, PMID:20843825 NCBI chr 1:139,810,292...139,858,699
Ensembl chr 1:139,804,167...139,858,718
Ensembl chr 1:139,804,167...139,858,718
JBrowse link
G Cfi complement component factor i susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612923
ClinVar
CTD
OMIM
PMID:15173250, PMID:16621965, PMID:18557729, PMID:18825487, PMID:19877009, PMID:20016463, PMID:20106822, PMID:20203157, PMID:20513133, PMID:20595690, PMID:22710145, PMID:23307876, PMID:23314101, PMID:23431077, PMID:23685748, PMID:23787556, PMID:24033266, PMID:24034049, PMID:24036952, PMID:24161037, PMID:25037630, PMID:25135378, PMID:25741868, PMID:25758434, PMID:27268256, PMID:28282489, PMID:28492532, PMID:15173250 RGD:6906889 NCBI chr 3:129,836,727...129,875,332
Ensembl chr 3:129,835,884...129,875,332
JBrowse link
G Dgke diacylglycerol kinase, epsilon ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: atypical hemolytic-uremic syndrome
ClinVar
CTD
PMID:23542698, PMID:24511134, PMID:24747643, PMID:25741868, PMID:29590070, PMID:30311386 NCBI chr11:89,035,179...89,060,795
Ensembl chr11:89,035,179...89,066,850
JBrowse link
G Thbd thrombomodulin susceptibility
no_association
severity
ISO ClinVar Annotator: match by OMIM:612926
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA:SNPs:5' utr, 3' utr:multiple
DNA:missense mutations:CDS:multiple
ClinVar
OMIM
CTD
PMID:7811989, PMID:10460600, PMID:11986219, PMID:12139752, PMID:17677000, PMID:19625716, PMID:23332921, PMID:24933457, PMID:25135378, PMID:25741868, PMID:28492532, PMID:19625716, PMID:19625716, PMID:20595690 RGD:11038691, RGD:11038691, RGD:11038684 NCBI chr 2:148,404,471...148,408,188
Ensembl chr 2:148,404,466...148,408,188
JBrowse link
atypical teratoid rhabdoid tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alk anaplastic lymphoma kinase ISO ClinVar Annotator: match by term: Atypical teratoid rhabdoid tumor ClinVar PMID:25741868, PMID:28492532 NCBI chr17:71,868,988...72,604,702
Ensembl chr17:71,868,972...72,604,627
JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Atypical teratoid rhabdoid tumor ClinVar PMID:7697714, PMID:8968741, PMID:18414213, PMID:22995991, PMID:24082139, PMID:24728327, PMID:25741868, PMID:26467025, PMID:28293299, PMID:28492530, PMID:28492532, PMID:29304373, PMID:29602769, PMID:29910053 NCBI chr  X:105,797,615...105,929,372
Ensembl chr  X:105,797,615...105,929,403
JBrowse link
G Derl3 Der1-like domain family, member 3 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 ClinVar PMID:28492532 NCBI chr10:75,893,398...75,895,941
Ensembl chr10:75,893,413...75,895,941
JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO
IEA
ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1
OMIM:609322
ClinVar Annotator: match by term: Malignant rhabdoid tumor, somatic
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:609322
OMIM
ClinVar
MouseDO
PMID:9671307, PMID:10521299, PMID:10739763, PMID:12226744, PMID:18414213, PMID:18647326, PMID:19124645, PMID:21208904, PMID:24123847, PMID:24728327, PMID:25741868, PMID:28492532 NCBI chr10:75,896,769...75,921,614
Ensembl chr10:75,896,769...75,921,617
JBrowse link
G Trp53 transformation related protein 53 ISO ClinVar Annotator: match by term: Atypical teratoid rhabdoid tumor ClinVar PMID:1565143, PMID:1591732, PMID:7565304, PMID:7783166, PMID:8550239, PMID:8718514, PMID:9218725, PMID:9242456, PMID:9364015, PMID:9667734, PMID:10519380, PMID:10922393, PMID:11370630, PMID:12826609, PMID:12885464, PMID:12917626, PMID:15722483, PMID:15925506, PMID:15951970, PMID:16401470, PMID:16494995, PMID:16551709, PMID:17015838, PMID:17311302, PMID:17606709, PMID:18511570, PMID:20128691, PMID:20522432, PMID:21343334, PMID:21761402, PMID:23538418, PMID:24033266, PMID:24122735, PMID:24835218, PMID:25157968, PMID:25741868, PMID:26205489, PMID:26225655, PMID:26619011, PMID:26786923, PMID:27621308, PMID:28492532 NCBI chr11:69,580,348...69,591,873
Ensembl chr11:69,580,359...69,591,873
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 coatomer protein complex subunit alpha ISO ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease OMIM
ClinVar
PMID:25741868, PMID:25894502, PMID:28492532, PMID:29137621 NCBI chr 1:172,082,529...172,122,332
Ensembl chr 1:172,082,529...172,122,330
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 ISO ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant
ClinVar Annotator: match by term: Renal failure and sensorineural hearing loss
ClinVar Annotator: match by term: Alport syndrome, autosomal dominant
OMIM
ClinVar
PMID:1400291, PMID:7987301, PMID:7987396, PMID:9195222, PMID:9269635, PMID:11044206, PMID:11134255, PMID:11961012, PMID:12028435, PMID:14582039, PMID:14871398, PMID:15954103, PMID:17216251, PMID:20847057, PMID:21897443, PMID:22887978, PMID:24033266, PMID:24052634, PMID:24130771, PMID:24633401, PMID:24854265, PMID:25229338, PMID:25307543, PMID:25575550, PMID:25596306, PMID:25741868, PMID:26346198, PMID:26467025, PMID:26809805, PMID:26934356, PMID:27281700, PMID:27391953, PMID:27932480, PMID:28117080, PMID:28492532, PMID:28542346, PMID:28658201, PMID:29098738, PMID:29204651, PMID:29271581, PMID:29854973, PMID:30311386, PMID:30406062, PMID:30828794, PMID:31306228 NCBI chr 1:82,586,921...82,722,059
Ensembl chr 1:82,586,921...82,722,059
JBrowse link
G Col4a4 collagen, type IV, alpha 4 ISO ClinVar Annotator: match by term: Alport syndrome, autosomal dominant
ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant
ClinVar PMID:9792860, PMID:11961012, PMID:12631110, PMID:12748344, PMID:15618242, PMID:19129241, PMID:21897443, PMID:24033266, PMID:24052634, PMID:24633401, PMID:25525159, PMID:25596306, PMID:25741868, PMID:26467025, PMID:26809805, PMID:28492532 NCBI chr 1:82,448,419...82,587,034
Ensembl chr 1:82,448,423...82,586,849
JBrowse link
G Myh9 myosin, heavy polypeptide 9, non-muscle ISO DNA:missense mutation:exon:4270G>C,D1424H (human) RGD PMID:12500226 RGD:6902925 NCBI chr15:77,760,585...77,842,175
Ensembl chr15:77,760,587...77,842,175
JBrowse link
Autosomal Dominant Hypocalcemia, with Bartter Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11152759, PMID:12107202, PMID:12191970, PMID:12241879, PMID:15005845, PMID:17048213, PMID:25741868 NCBI chr16:36,490,585...36,562,141
Ensembl chr16:36,493,696...36,562,141
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
IEA
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
OMIM:193100
DNA:missense mutation:cds:526C>T,p.R176W (human)
ClinVar Annotator: match by OMIM:193100
ClinVar
MouseDO
OMIM
PMID:1353055, PMID:5173181, PMID:9024275, PMID:11062477, PMID:11409890, PMID:11737582, PMID:11805436, PMID:12050201, PMID:12130585, PMID:12711740, PMID:12851820, PMID:12874285, PMID:15182416, PMID:15590700, PMID:15628294, PMID:15836777, PMID:15885032, PMID:16436388, PMID:17227222, PMID:17452648, PMID:17623664, PMID:17992255, PMID:18682534, PMID:18982401, PMID:21880793, PMID:22419710, PMID:24033266, PMID:25445451, PMID:26186302, PMID:26467025, PMID:28492532, PMID:11062477, PMID:19655082 RGD:1598933, RGD:10044239 NCBI chr 6:127,072,902...127,082,296
Ensembl chr 6:127,072,902...127,081,408
JBrowse link
autosomal dominant polycystic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg2 ATP binding cassette subfamily G member 2 (Junior blood group) ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 6:58,584,491...58,692,451
Ensembl chr 6:58,584,523...58,695,676
JBrowse link
G Angpt2 angiopoietin 2 ISO protein:increased expression:bile duct (rat) RGD PMID:16628643 RGD:2314213 NCBI chr 8:18,690,263...18,741,562
Ensembl chr 8:18,690,263...18,741,562
JBrowse link
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12089381 NCBI chr 4:47,015,365...47,057,327
Ensembl chr 4:47,015,669...47,057,427
JBrowse link
G Bicc1 BicC family RNA binding protein 1 IEA MouseDO NCBI chr10:70,922,830...71,159,690
Ensembl chr10:70,922,832...71,159,700
JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25877301 NCBI chr17:32,196,272...32,284,743
Ensembl chr17:32,196,274...32,284,722
JBrowse link
G Bricd5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr17:24,473,487...24,475,471
Ensembl chr17:24,473,884...24,475,469
JBrowse link
G C9 complement component 9 disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr15:6,445,346...6,498,825
Ensembl chr15:6,445,327...6,498,751
JBrowse link
G Caskin1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr17:24,487,897...24,508,909
Ensembl chr17:24,488,601...24,508,671
JBrowse link
G Cd14 CD14 antigen disease_progression ISO protein:altered localization:kidney,urine RGD PMID:20555320 RGD:7204130 NCBI chr18:36,725,064...36,726,815
Ensembl chr18:36,725,067...36,726,798
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A (P21) ISO protein:decreased expression:kidney RGD PMID:17714589 RGD:2289666 NCBI chr17:29,090,979...29,100,722
Ensembl chr17:29,090,976...29,100,727
JBrowse link
G Cfb complement factor B disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr17:34,856,374...34,862,514
Ensembl chr17:34,856,374...34,862,518
JBrowse link
G Dmp1 dentin matrix protein 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 5:104,197,575...104,214,102
Ensembl chr 5:104,202,613...104,214,102
JBrowse link
G Dnase1l2 deoxyribonuclease 1-like 2 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr17:24,440,087...24,443,763
Ensembl chr17:24,440,081...24,443,105
JBrowse link
G Dspp dentin sialophosphoprotein ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 5:104,170,703...104,180,127
Ensembl chr 5:104,170,712...104,180,127
JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr17:24,443,778...24,455,392
Ensembl chr17:24,443,778...24,470,313
JBrowse link
G Edn1 endothelin 1 ISO mRNA, protein:increased expression:kidney (human) RGD PMID:12629276 RGD:4144854 NCBI chr13:42,301,476...42,307,990
Ensembl chr13:42,301,476...42,307,990
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 6:58,933,536...59,024,502
Ensembl chr 6:58,932,090...59,024,549
JBrowse link
G Fos FBJ osteosarcoma oncogene ISO protein: increased expression: kidney RGD PMID:16049073 RGD:7242198 NCBI chr12:85,473,890...85,477,274
Ensembl chr12:85,473,890...85,477,273
JBrowse link
G Ganab alpha glucosidase 2 alpha neutral subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant
CTD
ClinVar
NCBI chr19:8,898,057...8,916,742
Ensembl chr19:8,898,071...8,916,672
JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr 1:74,278,600...74,279,589
Ensembl chr 1:74,278,550...74,279,624
JBrowse link
G Gprin3 GPRIN family member 3 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 6:59,344,500...59,426,306
Ensembl chr 6:59,347,226...59,426,294
JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 IEP protein:increased expression:kidney: RGD PMID:12388382 RGD:7245969 NCBI chr11:46,739,822...46,779,578
Ensembl chr11:46,735,080...46,779,578
JBrowse link
G Herc3 hect domain and RLD 3 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 6:58,831,455...58,920,398
Ensembl chr 6:58,831,465...58,920,398
JBrowse link
G Herc6 hect domain and RLD 6 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 6:57,580,992...57,665,136
Ensembl chr 6:57,581,000...57,664,632
JBrowse link
G Hsd17b11 hydroxysteroid (17-beta) dehydrogenase 11 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 5:103,989,765...104,021,796
Ensembl chr 5:103,989,762...104,021,919
JBrowse link
G Hsd17b13 hydroxysteroid (17-beta) dehydrogenase 13 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 5:103,955,442...103,977,388
Ensembl chr 5:103,955,440...103,977,410
JBrowse link
G Ibsp integrin binding sialoprotein ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 5:104,299,287...104,311,472
Ensembl chr 5:104,299,171...104,311,469
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:decreased expression:urine (human) RGD PMID:9090470 RGD:6909172 NCBI chr 2:24,336,860...24,351,491
Ensembl chr 2:24,336,853...24,351,494
JBrowse link
G Itga8 integrin alpha 8 ISO mRNA:increased expression:kidney RGD PMID:18277079 RGD:7257723 NCBI chr 2:12,106,632...12,301,985
Ensembl chr 2:12,106,632...12,301,922
JBrowse link
G Klhl8 kelch-like 8 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 5:103,862,050...103,911,259
Ensembl chr 5:103,861,973...103,911,259
JBrowse link
G Lrp2 low density lipoprotein receptor-related protein 2 ISO RGD PMID:11841627 RGD:1641842 NCBI chr 2:69,424,335...69,586,029
Ensembl chr 2:69,424,340...69,586,065
JBrowse link
G Lrp5 low density lipoprotein receptor-related protein 5 susceptibility IAGP DNA:missense mutation:cds:multiple mutations (human) RGD PMID:25920554 RGD:11553546 NCBI chr19:3,584,825...3,686,585
Ensembl chr19:3,584,828...3,686,564
JBrowse link
G Mepe matrix extracellular phosphoglycoprotein with ASARM motif (bone) ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 5:104,325,329...104,338,611
Ensembl chr 5:104,325,329...104,338,611
JBrowse link
G Mlst8 MTOR associated protein, LST8 homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr17:24,473,550...24,479,114
Ensembl chr17:24,473,551...24,479,078
JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) ISO protein:increased expression:serum (human) RGD PMID:10644865 RGD:7207194 NCBI chr 9:7,464,141...7,476,869
Ensembl chr 9:7,464,141...7,476,869
JBrowse link
G Mmp1b matrix metallopeptidase 1b (interstitial collagenase) ISO protein:increased expression:serum (human) RGD PMID:10644865 RGD:7207194 NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:plasma (human) RGD PMID:10644865 RGD:7207194 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:23195001 RGD:7245504 NCBI chr 4:148,448,582...148,557,685
Ensembl chr 4:148,448,611...148,557,683
JBrowse link
G Myc myelocytomatosis oncogene IEP
IEA
ISO
mRNA:increased expression:kidney (mouse)
CTD Direct Evidence: marker/mechanism
MouseDO
CTD
PMID:25877301, PMID:18356167 RGD:7207457 NCBI chr15:61,985,341...61,990,361
Ensembl chr15:61,985,391...61,990,374
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 6:58,905,233...58,907,126
Ensembl chr 6:58,905,233...58,907,076
JBrowse link
G Nphp3 nephronophthisis 3 (adolescent) IEA MouseDO NCBI chr 9:104,002,544...104,043,811
Ensembl chr 9:104,002,544...104,043,818
JBrowse link
G Nudt9 nudix (nucleoside diphosphate linked moiety X)-type motif 9 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 5:104,045,538...104,065,378
Ensembl chr 5:104,046,306...104,065,379
JBrowse link
G Pgp phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr17:24,470,426...24,473,110
Ensembl chr17:24,470,392...24,473,110
JBrowse link
G Pigyl phosphatidylinositol glycan anchor biosynthesis, class Y-like ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 9:22,156,846...22,158,355
Ensembl chr 9:22,156,846...22,158,358
JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 ISO mRNA:increased expression:kidney RGD PMID:20926632 RGD:5131995 NCBI chr 3:129,199,878...129,219,594
Ensembl chr 3:129,199,878...129,219,591
JBrowse link
G Pkd1 polycystin 1, transient receptor poteintial channel interacting severity ISO
IAGP
DNA:mutations:exons, intron:multiple
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.R3277C (mouse)
DNA:mutations:multiple
ClinVar
CTD
PMID:7581371, PMID:8004675, PMID:9521593, PMID:10200984, PMID:10364515, PMID:10854095, PMID:10987650, PMID:11058904, PMID:11115377, PMID:11216660, PMID:11558899, PMID:11571556, PMID:11691639, PMID:11840199, PMID:11857740, PMID:11967008, PMID:12007219, PMID:12070253, PMID:12089381, PMID:12482949, PMID:12842373, PMID:15772804, PMID:16430766, PMID:17574468, PMID:17582161, PMID:18077784, PMID:18640754, PMID:18837007, PMID:19165178, PMID:19401297, PMID:19686598, PMID:20558538, PMID:20981092, PMID:21115670, PMID:22008521, PMID:22090377, PMID:22185115, PMID:22333914, PMID:22383692, PMID:22508176, PMID:22608885, PMID:23064367, PMID:23300259, PMID:23431072, PMID:23760289, PMID:24033266, PMID:24374109, PMID:24694054, PMID:25333066, PMID:25646624, PMID:25741868, PMID:25877301, PMID:26139440, PMID:26453610, PMID:26467025, PMID:26632257, PMID:26661679, PMID:27499327, PMID:27567292, PMID:27884173, PMID:27894351, PMID:28887310, PMID:30333007, PMID:8554072, PMID:23064367, PMID:21115670 RGD:1601399, RGD:7175280, RGD:7175279 NCBI chr17:24,548,689...24,596,514
Ensembl chr17:24,549,834...24,596,508
JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel onset ISO
IEA
DNA:mutations:multiple
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
MouseDO
PMID:8650545, PMID:9573526, PMID:9856513, PMID:9856528, PMID:10411676, PMID:10497221, PMID:10541293, PMID:10760080, PMID:11007674, PMID:11095651, PMID:11967008, PMID:11968093, PMID:12089381, PMID:12707387, PMID:12842373, PMID:14993477, PMID:15001556, PMID:15192819, PMID:15772804, PMID:15775720, PMID:16223735, PMID:16430766, PMID:16540757, PMID:17100995, PMID:17429049, PMID:17574468, PMID:17582161, PMID:18257781, PMID:18664456, PMID:18837007, PMID:19491093, PMID:19556541, PMID:19936001, PMID:20168298, PMID:20881056, PMID:20950398, PMID:21551026, PMID:22008521, PMID:22034641, PMID:22185115, PMID:22383692, PMID:22508176, PMID:22863349, PMID:22995991, PMID:23300259, PMID:23376035, PMID:24374109, PMID:24611717, PMID:24658975, PMID:24719335, PMID:24925719, PMID:25333066, PMID:25574838, PMID:25741868, PMID:25877301, PMID:26275819, PMID:26364947, PMID:26467025, PMID:26632257, PMID:26692149, PMID:27401137, PMID:27499327, PMID:27567292, PMID:27782177, PMID:27884173, PMID:27894351, PMID:28356211, PMID:28492532, PMID:28887310, PMID:29529603, PMID:30333007, PMID:30820006, PMID:30883612, PMID:22863349, PMID:21115670 RGD:7175273, RGD:7175279 NCBI chr 5:104,453,982...104,505,819
Ensembl chr 5:104,459,450...104,505,819
JBrowse link
G Pkhd1 polycystic kidney and hepatic disease 1 ISO ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant
ClinVar PMID:11898128, PMID:11919560, PMID:12506140, PMID:12846734, PMID:12874454, PMID:15108277, PMID:15108281, PMID:15696446, PMID:15805161, PMID:16133180, PMID:16199545, PMID:16523049, PMID:19914852, PMID:19940839, PMID:19940939, PMID:20413436, PMID:21274727, PMID:25124979, PMID:25701400, PMID:25741868, PMID:26695994, PMID:27225849, PMID:28375157, PMID:28492532, PMID:29956005, PMID:30311386 NCBI chr 1:20,057,779...20,618,082
Ensembl chr 1:20,057,779...20,618,064
JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:20210794 NCBI chr 6:115,360,879...115,490,404
Ensembl chr 6:115,360,951...115,490,399
JBrowse link
G Ppm1k protein phosphatase 1K (PP2C domain containing) ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 6:57,506,502...57,535,552
Ensembl chr 6:57,506,502...57,535,468
JBrowse link
G Pyurf Pigy upstream reading frame ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 6:57,684,739...57,692,078
Ensembl chr 6:57,686,576...57,692,078
JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr17:24,529,054...24,533,747
Ensembl chr17:24,527,241...24,534,210
JBrowse link
G Rps6kb1 ribosomal protein S6 kinase, polypeptide 1 ISO protein:increased expression, increased activity:kidney RGD PMID:16221708 RGD:1643017 NCBI chr11:86,498,869...86,544,885
Ensembl chr11:86,498,871...86,544,805
JBrowse link
G Serping1 serine (or cysteine) peptidase inhibitor, clade G, member 1 disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr 2:84,765,360...84,775,444
Ensembl chr 2:84,765,387...84,775,444
JBrowse link
G Slc34a1 solute carrier family 34 (sodium phosphate), member 1 disease_progression ISO mRNA, protein:altered expression:renal cortex (rat) RGD PMID:11004225 RGD:7242933 NCBI chr13:55,399,622...55,414,695
Ensembl chr13:55,398,187...55,415,592
JBrowse link
G Snca synuclein, alpha ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 6:60,731,573...60,829,855
Ensembl chr 6:60,731,575...60,829,855
JBrowse link
G Sparcl1 SPARC-like 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 5:104,079,108...104,114,088
Ensembl chr 5:104,079,111...104,113,733
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868, PMID:20926632 RGD:5131995 NCBI chr 5:104,435,111...104,441,053
Ensembl chr 5:104,435,118...104,441,050
JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO protein:increased expression:kidney, epithelial cell RGD PMID:16399078 RGD:7243978 NCBI chr10:127,642,955...127,660,987
Ensembl chr10:127,642,986...127,660,957
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 6:59,208,870...59,212,033
Ensembl chr 6:59,208,870...59,212,033
JBrowse link
G Traf7 TNF receptor-associated factor 7 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr17:24,508,850...24,527,938
Ensembl chr17:24,508,562...24,527,938
JBrowse link
autosomal dominant pseudohypoaldosteronism type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cul3 cullin 3 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:25741868, PMID:28492532 NCBI chr 1:80,264,923...80,340,690
Ensembl chr 1:80,264,923...80,340,480
JBrowse link
G Klhl3 kelch-like 3 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr13:58,000,226...58,123,477
Ensembl chr13:58,000,228...58,113,592
JBrowse link
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 ISO
IEA
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
OMIM:177735
ClinVar
MouseDO
OMIM
PMID:9662404, PMID:11134129, PMID:11344206, PMID:12483305, PMID:12679457, PMID:12788847, PMID:14715854, PMID:15126534, PMID:16611713, PMID:16757525, PMID:16954160, PMID:19571553, PMID:20030467, PMID:24033266, PMID:25251996, PMID:25741868, PMID:27780983, PMID:28492532, PMID:30763456, PMID:9662404 RGD:1600930 NCBI chr 8:76,898,083...77,245,012
Ensembl chr 8:76,899,442...77,245,012
JBrowse link
G Stx16 syntaxin 16 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar NCBI chr 2:174,076,260...174,099,771
Ensembl chr 2:174,076,308...174,099,771
JBrowse link
autosomal dominant Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION
ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant
ClinVar Annotator: match by OMIM:614296
OMIM
ClinVar
PMID:10679252, PMID:11295831, PMID:12022290, PMID:15605410, PMID:16648378, PMID:17492394, PMID:18544103, PMID:19877185, PMID:20069065, PMID:20875904, PMID:21067485, PMID:21143470, PMID:21538838, PMID:21917145, PMID:22238590, PMID:24033266, PMID:24890733, PMID:25133958, PMID:25388789, PMID:25741868, PMID:26435059, PMID:26467025, PMID:26875006, PMID:27395765, PMID:28432734, PMID:28468959, PMID:28492532, PMID:29529044 NCBI chr 5:36,966,104...36,988,982
Ensembl chr 5:36,966,104...36,989,205
JBrowse link
autosomal recessive Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccr1 chemokine (C-C motif) receptor 1 IMP RGD PMID:15716328 RGD:5688157 NCBI chr 9:123,962,126...123,968,692
Ensembl chr 9:123,962,124...123,968,692
JBrowse link
G Col4a3 collagen, type IV, alpha 3 ISO
IEA
ClinVar Annotator: match by term: Alport syndrome, autosomal recessive
ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
OMIM:203780
OMIM
ClinVar
MouseDO
PMID:1400291, PMID:7633417, PMID:7780062, PMID:7987301, PMID:7987396, PMID:8956999, PMID:9195222, PMID:9269635, PMID:9647515, PMID:11044206, PMID:11134255, PMID:11961012, PMID:12028435, PMID:14582039, PMID:14871398, PMID:15954103, PMID:17216251, PMID:17396119, PMID:18436078, PMID:20847057, PMID:21897443, PMID:22887978, PMID:23297803, PMID:23927549, PMID:23967202, PMID:24033266, PMID:24033287, PMID:24052634, PMID:24130771, PMID:24633401, PMID:24854265, PMID:24944784, PMID:25229338, PMID:25307543, PMID:25381091, PMID:25407002, PMID:25450602, PMID:25525159, PMID:25575550, PMID:25596306, PMID:25741868, PMID:25888712, PMID:26277931, PMID:26346198, PMID:26467025, PMID:26594346, PMID:26795916, PMID:26809805, PMID:27281700, PMID:27627812, PMID:27796712, PMID:27859054, PMID:27932480, PMID:28117080, PMID:28492532, PMID:28542346, PMID:28570636, PMID:28658201, PMID:29127259, PMID:29204651, PMID:29270492, PMID:29271581, PMID:29854973, PMID:29946535, PMID:30311386, PMID:30406062, PMID:30881523, PMID:31807928, PMID:32860008 NCBI chr 1:82,586,921...82,722,059
Ensembl chr 1:82,586,921...82,722,059
JBrowse link
G Col4a4 collagen, type IV, alpha 4 ISO
IEA
ClinVar Annotator: match by term: Alport syndrome, autosomal recessive
ClinVar Annotator: match by term: Alport syndrome type 2
OMIM:203780
OMIM
ClinVar
MouseDO
PMID:7987396, PMID:8787673, PMID:9195222, PMID:9792860, PMID:11961012, PMID:12028435, PMID:12325029, PMID:12631110, PMID:12748344, PMID:14582039, PMID:15618242, PMID:15954103, PMID:16338941, PMID:17216251, PMID:17396119, PMID:19129241, PMID:19675380, PMID:20029656, PMID:21196518, PMID:21897443, PMID:22887978, PMID:23349334, PMID:23967202, PMID:24033266, PMID:24033287, PMID:24052634, PMID:24522496, PMID:24633401, PMID:24854265, PMID:25229338, PMID:25307543, PMID:25381091, PMID:25514610, PMID:25525159, PMID:25596306, PMID:25741868, PMID:25755845, PMID:26467025, PMID:26809805, PMID:26934356, PMID:27281700, PMID:28117080, PMID:28492532, PMID:28542346, PMID:28632965, PMID:28968992, PMID:29098738, PMID:29801666, PMID:30311386 NCBI chr 1:82,448,419...82,587,034
Ensembl chr 1:82,448,423...82,586,849
JBrowse link
G Mpv17 MpV17 mitochondrial inner membrane protein IEA OMIM:203780 MouseDO NCBI chr 5:31,140,663...31,154,251
Ensembl chr 5:31,140,654...31,154,251
JBrowse link
autosomal recessive cutis laxa type IC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp4 latent transforming growth factor beta binding protein 4 ISO ClinVar Annotator: match by term: Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
ClinVar Annotator: match by OMIM:613177
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:19836010, PMID:22829427, PMID:23440719, PMID:24033266, PMID:25741868, PMID:28492532, PMID:31115174 NCBI chr 7:27,305,140...27,339,720
Ensembl chr 7:27,305,136...27,337,692
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 protein 1 ISO
ISS
IEA
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
OMIM:241520 | OMIM:613312
ClinVar
MouseDO
NCBI chr 5:104,197,575...104,214,102
Ensembl chr 5:104,202,613...104,214,102
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO
ISS
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
OMIM:241520 | OMIM:613312
ClinVar
MouseDO
PMID:24033266, PMID:28492532 NCBI chr10:24,637,914...24,712,159
Ensembl chr10:24,637,914...24,712,159
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
IEA
ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis
OMIM:259730
ClinVar Annotator: match by OMIM:259730
ClinVar Annotator: match by null
OMIM
ClinVar
MouseDO
PMID:1301935, PMID:1542674, PMID:1928091, PMID:4624444, PMID:5041390, PMID:7627193, PMID:8127074, PMID:8128957, PMID:8834238, PMID:12566520, PMID:18060825, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 3:14,886,269...14,900,770
Ensembl chr 3:14,886,273...14,900,770
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 (peptidyl-dipeptidase A) 1 ISO mRNA:increased expression:kidney (rat) RGD PMID:20229187, PMID:20798958 RGD:2325220, RGD:12879406 NCBI chr11:105,967,948...105,989,964
Ensembl chr11:105,967,945...105,989,964
JBrowse link
G Akt1 thymoma viral proto-oncogene 1 ISO protein:increased serine phosphorylation:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr12:112,653,821...112,674,884
Ensembl chr12:112,653,821...112,674,884
JBrowse link
G Aqp1 aquaporin 1 ISO mRNA, protein:increased expression, altered location:bile duct, epithelial cell
CTD Direct Evidence: marker/mechanism
CTD PMID:18988797, PMID:18988797 RGD:2307071 NCBI chr 6:55,336,299...55,348,555
Ensembl chr 6:55,336,432...55,348,555
JBrowse link
G Arl3 ADP-ribosylation factor-like 3 IEA OMIM:263200 MouseDO NCBI chr19:46,531,109...46,573,182
Ensembl chr19:46,531,096...46,573,198
JBrowse link
G Bicc1 BicC family RNA binding protein 1 IEA OMIM:263200 MouseDO NCBI chr10:70,922,830...71,159,690
Ensembl chr10:70,922,832...71,159,700
JBrowse link
G C3 complement component 3 IEP
ISO
mRNA, protein:increased expression, increased activity:kidney RGD PMID:17960140, PMID:17960140 RGD:7175542, RGD:7175542 NCBI chr17:57,203,967...57,228,136
Ensembl chr17:57,203,970...57,228,136
JBrowse link
G Cd14 CD14 antigen severity IEP
ISO
RGD PMID:20555320, PMID:20555320 RGD:7204130, RGD:7204130 NCBI chr18:36,725,064...36,726,815
Ensembl chr18:36,725,067...36,726,798
JBrowse link
G Cdc25a cell division cycle 25A treatment ISO
IEP
protein:increased expression:cholangiocyte: RGD PMID:22155366, PMID:22155366, PMID:22155366, PMID:22155366 RGD:14700990, RGD:14700990, RGD:14700990, RGD:14700990 NCBI chr 9:109,875,518...109,893,895
Ensembl chr 9:109,875,579...109,893,895
JBrowse link
G Cftr cystic fibrosis transmembrane conductance regulator ISO mRNA, protein:increased expression:bile duct epithelium
CTD Direct Evidence: marker/mechanism
CTD PMID:18988797, PMID:18988797 RGD:2307071 NCBI chr 6:18,170,687...18,322,770
Ensembl chr 6:18,170,687...18,322,768
JBrowse link
G Cyp4a10 cytochrome P450, family 4, subfamily a, polypeptide 10 ISO mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 4:115,518,287...115,533,649
Ensembl chr 4:115,518,264...115,533,649
JBrowse link
G Cyp4a12b cytochrome P450, family 4, subfamily a, polypeptide 12B ISO mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 4:115,411,624...115,439,034
Ensembl chr 4:115,411,624...115,439,034
JBrowse link
G Cyp4a14 cytochrome P450, family 4, subfamily a, polypeptide 14 ISO mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 4:115,486,200...115,496,158
Ensembl chr 4:115,486,200...115,496,142
JBrowse link
G Cys1 cystin 1 IAGP
IEA
OMIM:263200 MouseDO PMID:11854326 RGD:7175541 NCBI chr12:24,665,833...24,681,886
Ensembl chr12:24,665,833...24,681,813
JBrowse link
G Dzip1l DAZ interacting protein 1-like ISO
IEA
CTD Direct Evidence: marker/mechanism
OMIM:263200
CTD
MouseDO
PMID:28530676 NCBI chr 9:99,629,501...99,670,075
Ensembl chr 9:99,629,496...99,669,256
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9486961 NCBI chr11:16,752,203...16,913,907
Ensembl chr11:16,752,203...16,918,158
JBrowse link
G Eln elastin ISO RGD PMID:21478483 RGD:7207865 NCBI chr 5:134,702,595...134,747,368
Ensembl chr 5:134,702,593...134,747,323
JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr 1:74,278,600...74,279,589
Ensembl chr 1:74,278,550...74,279,624
JBrowse link
G Ift88 intraflagellar transport 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8191288, PMID:8608416 NCBI chr14:57,424,064...57,517,936
Ensembl chr14:57,424,062...57,517,936
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO protein:increased serine phosphorylation:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr 4:148,448,582...148,557,685
Ensembl chr 4:148,448,611...148,557,683
JBrowse link
G Myc myelocytomatosis oncogene IEP mRNA:increased expression:kidney (mouse) RGD PMID:3479800 RGD:7207453 NCBI chr15:61,985,341...61,990,361
Ensembl chr15:61,985,391...61,990,374
JBrowse link
G Nek1 NIMA (never in mitosis gene a)-related expressed kinase 1 IEA OMIM:263200 MouseDO NCBI chr 8:60,993,157...61,131,349
Ensembl chr 8:60,993,195...61,131,346
JBrowse link
G Nek8 NIMA (never in mitosis gene a)-related expressed kinase 8 IEA OMIM:263200 MouseDO NCBI chr11:78,166,106...78,176,695
Ensembl chr11:78,166,106...78,176,675
JBrowse link
G Nphp3 nephronophthisis 3 (adolescent) ISO CTD Direct Evidence: marker/mechanism CTD PMID:12089381 NCBI chr 9:104,002,544...104,043,811
Ensembl chr 9:104,002,544...104,043,818
JBrowse link
G Panx1 pannexin 1 ISO RGD PMID:31630543 RGD:14995937 NCBI chr 9:15,005,785...15,045,478
Ensembl chr 9:15,002,128...15,045,478
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO protein:increased expression:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr 3:32,397,065...32,466,112
Ensembl chr 3:32,397,671...32,468,486
JBrowse link
G Pkd1 polycystin 1, transient receptor poteintial channel interacting ISO
IEA
ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease
OMIM:263200
ClinVar
MouseDO
PMID:10729710, PMID:11115377, PMID:11967008, PMID:17574468, PMID:17582161, PMID:19515475, PMID:21551026, PMID:22031115, PMID:22508176, PMID:24374109, PMID:25333066, PMID:25741868, PMID:26453610, PMID:26467025, PMID:26632257, PMID:29100090 NCBI chr17:24,548,689...24,596,514
Ensembl chr17:24,549,834...24,596,508
JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease ClinVar PMID:12707387, PMID:25741868, PMID:28492532, PMID:29529603, PMID:30333007 NCBI chr 5:104,453,982...104,505,819
Ensembl chr 5:104,459,450...104,505,819
JBrowse link
G Pkhd1 polycystic kidney and hepatic disease 1 susceptibility
severity
ISO
IMP
IEA
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
OMIM:263200
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
MouseDO
CTD
PMID:1189128, PMID:11898128, PMID:11919560, PMID:12506140, PMID:12846734, PMID:12874454, PMID:12925574, PMID:14741187, PMID:14971004, PMID:15108277, PMID:15108281, PMID:15696446, PMID:15698423, PMID:15706593, PMID:15805161, PMID:16133180, PMID:16199545, PMID:16523049, PMID:16632497, PMID:16876319, PMID:18414213, PMID:18503009, PMID:18988797, PMID:19021639, PMID:19176689, PMID:19524688, PMID:19914852, PMID:19940839, PMID:19940939, PMID:20413436, PMID:20460933, PMID:20575693, PMID:21046169, PMID:21228398, PMID:21274727, PMID:21493627, PMID:21685914, PMID:21790888, PMID:21896375, PMID:21945273, PMID:22034641, PMID:22995991, PMID:23041322, PMID:23265383, PMID:23389334, PMID:23582048, PMID:23757202, PMID:24033266, PMID:24121792, PMID:24162162, PMID:24336431, PMID:24710345, PMID:24984783, PMID:25114813, PMID:25124979, PMID:25153916, PMID:25193386, PMID:25326637, PMID:25525159, PMID:25646624, PMID:25701400, PMID:25741868, PMID:25771912, PMID:25966130, PMID:26139440, PMID:26385851, PMID:26489027, PMID:26489029, PMID:26633542, PMID:26673778, PMID:26695994, PMID:26721323, PMID:27151922, PMID:27225849, PMID:27491411, PMID:27577217, PMID:27595491, PMID:27752906, PMID:27894351, PMID:28170084, PMID:28375157, PMID:28492532, PMID:28518170, PMID:28555180, PMID:28578020, PMID:28851938, PMID:28862642, PMID:29520754, PMID:29643536, PMID:29801666, PMID:29956005, PMID:30311386, PMID:30507656, PMID:30510609, PMID:30566001, PMID:30650191, PMID:31395954, PMID:32576985, PMID:11919560, PMID:12874454, PMID:17519956, PMID:14983006, PMID:11919560 RGD:70439, RGD:11062506, RGD:14700917, RGD:1642441, RGD:70439 NCBI chr 1:20,057,779...20,618,082
Ensembl chr 1:20,057,779...20,618,064
JBrowse link
G Sclt1 sodium channel and clathrin linker 1 IEA OMIM:263200 MouseDO NCBI chr 3:41,626,705...41,742,551
Ensembl chr 3:41,626,720...41,742,514
JBrowse link
G Slc4a2 solute carrier family 4 (anion exchanger), member 2 ISO mRNA, protein:increased expression, altered localization:cholangiocyte, basolateral plasma membrane
CTD Direct Evidence: marker/mechanism
CTD PMID:18988797, PMID:18988797 RGD:2307071 NCBI chr 5:24,423,761...24,440,947
Ensembl chr 5:24,423,837...24,440,950
JBrowse link
G Src Rous sarcoma oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:18385429 NCBI chr 2:157,423,906...157,471,838
Ensembl chr 2:157,418,444...157,471,862
JBrowse link
G Tmem67 transmembrane protein 67 ISO RGD PMID:30705305 RGD:14995942 NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,355...12,090,020
JBrowse link
G Tsc1 TSC complex subunit 1 IEA OMIM:263200 MouseDO NCBI chr 2:28,640,993...28,691,172
Ensembl chr 2:28,641,228...28,691,167
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 B 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 6:125,306,571...125,313,885
Ensembl chr 6:125,306,571...125,313,885
JBrowse link
G Scnn1a sodium channel, nonvoltage-gated 1 alpha ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism type 1 autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1
ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive
ClinVar
OMIM
PMID:1506904, PMID:8589714, PMID:10510337, PMID:10523338, PMID:10586178, PMID:11978598, PMID:15734793, PMID:16249274, PMID:19462466, PMID:20194130, PMID:21889619, PMID:21917531, PMID:23149595, PMID:24033266, PMID:25741868, PMID:26668308, PMID:28492532 NCBI chr 6:125,314,271...125,344,943
Ensembl chr 6:125,320,659...125,344,943
JBrowse link
G Scnn1b sodium channel, nonvoltage-gated 1 beta ISO
IEA
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
OMIM:264350
ClinVar
OMIM
MouseDO
PMID:8589714, PMID:9118951, PMID:9576123, PMID:9674649, PMID:10523338, PMID:11439319, PMID:15661075, PMID:16207733, PMID:18507830, PMID:19017867, PMID:19462466, PMID:21504729, PMID:24033266, PMID:25333069, PMID:25741868, PMID:25900089, PMID:26038974, PMID:26467025, PMID:28492532 NCBI chr 7:121,865,038...121,918,728
Ensembl chr 7:121,865,038...121,918,514
JBrowse link
G Scnn1g sodium channel, nonvoltage-gated 1 gamma ISO
IEA
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
OMIM:264350
ClinVar
OMIM
MouseDO
PMID:8640238, PMID:10391210, PMID:11231969, PMID:12473862, PMID:15198480, PMID:17460608, PMID:17634077, PMID:18507830, PMID:19462466, PMID:21956615, PMID:22995991, PMID:23149595, PMID:24033266, PMID:24882431, PMID:25741868, PMID:25900089, PMID:26135620, PMID:26467025, PMID:26537344, PMID:27884173, PMID:28492532, PMID:28497567, PMID:29229744, PMID:31655555 NCBI chr 7:121,734,420...121,768,482
Ensembl chr 7:121,734,479...121,768,475
JBrowse link
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive ClinVar NCBI chr 6:125,349,723...125,362,483
Ensembl chr 6:125,349,362...125,362,484
JBrowse link
Azotemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gh growth hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:14728886 NCBI chr11:106,300,261...106,303,703
Ensembl chr11:106,300,271...106,301,865
JBrowse link
G Ren1 renin 1 structural ISO CTD Direct Evidence: marker/mechanism CTD PMID:6338847 NCBI chr 1:133,350,674...133,360,320
Ensembl chr 1:133,350,510...133,360,325
JBrowse link
Balkan nephropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trp53 transformation related protein 53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22071594 NCBI chr11:69,580,348...69,591,873
Ensembl chr11:69,580,359...69,591,873
JBrowse link
Bartter disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bsnd barttin CLCNK type accessory beta subunit ISO Bartter syndrome with sensorineural deafness, OMIM:602522, DNA:point mutation:A1T, R8W, DNA:deletion:exon
ClinVar Annotator: match by term: Bartter's syndrome
ClinVar PMID:11687798 RGD:1600603 NCBI chr 4:106,483,456...106,492,243
Ensembl chr 4:106,483,456...106,492,283
JBrowse link
G Clcnkb chloride channel, voltage-sensitive Kb ISO
IEA
CTD Direct Evidence: marker/mechanism CTD
MouseDO
PMID:10561751 NCBI chr 4:141,404,357...141,416,055
Ensembl chr 4:141,404,353...141,416,014
JBrowse link
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Antenatal Bartter Syndrome
CTD
ClinVar
PMID:10561751, PMID:12911542, PMID:16982955, PMID:22275899, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 9:32,372,418...32,399,197
Ensembl chr 9:32,372,493...32,399,197
JBrowse link
G Ren1 renin 1 structural ISO CTD Direct Evidence: marker/mechanism CTD PMID:929154, PMID:3519017, PMID:15976003 NCBI chr 1:133,350,674...133,360,320
Ensembl chr 1:133,350,510...133,360,325
JBrowse link
G Slc12a1 solute carrier family 12, member 1 ISO antenatal Bartter syndrome type 1,OMIM:601678;DNA:point mutation:exon:D648N, V272F
CTD Direct Evidence: marker/mechanism
CTD PMID:10561751, PMID:8640224 RGD:1624188 NCBI chr 2:125,152,510...125,230,002
Ensembl chr 2:125,152,505...125,230,002
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
IEA
ClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal
OMIM:601678
ClinVar Annotator: match by OMIM:601678
OMIM
ClinVar
MouseDO
PMID:8640224, PMID:9355073, PMID:9585600, PMID:12761241, PMID:15167446, PMID:18391953, PMID:19096086, PMID:19513753, PMID:19602640, PMID:20219833, PMID:21157372, PMID:21209010, PMID:23897314, PMID:24033266, PMID:24253496, PMID:24550759, PMID:25326637, PMID:25741868, PMID:26467025, PMID:26963954, PMID:28000888, PMID:28095294, PMID:28492532, PMID:28893421, PMID:30113482 NCBI chr 2:125,152,510...125,230,002
Ensembl chr 2:125,152,505...125,230,002
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
IEA
ClinVar Annotator: match by term: Bartter syndrome, type 2, antenatal
OMIM:241200
ClinVar Annotator: match by OMIM:241200
OMIM
ClinVar
MouseDO
PMID:8841184, PMID:9002665, PMID:9015377, PMID:9580661, PMID:9727001, PMID:10049979, PMID:11318951, PMID:12911542, PMID:18391953, PMID:19096086, PMID:19602640, PMID:20699659, PMID:22245519, PMID:25741868, PMID:26467025, PMID:28492532, PMID:32590952 NCBI chr 9:32,372,418...32,399,197
Ensembl chr 9:32,372,493...32,399,197
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 channel, voltage-sensitive Ka ISO ClinVar Annotator: match by term: Bartter syndrome type 3 ClinVar PMID:25741868 NCBI chr 4:141,384,611...141,398,706
Ensembl chr 4:141,384,610...141,398,724
JBrowse link
G Clcnkb chloride channel, voltage-sensitive Kb ISO
IEA
ClinVar Annotator: match by term: Bartter syndrome type 3
OMIM:607364
ClinVar Annotator: match by OMIM:607364
OMIM
ClinVar
MouseDO
PMID:9326936, PMID:10831588, PMID:10906158, PMID:11102542, PMID:11734858, PMID:17185149, PMID:21631963, PMID:23991001, PMID:24033266, PMID:24058621, PMID:24830959, PMID:25326637, PMID:25525159, PMID:25741868, PMID:25810436, PMID:26467025, PMID:28288174, PMID:28555925, PMID:32576985 NCBI chr 4:141,404,357...141,416,055
Ensembl chr 4:141,404,353...141,416,014
JBrowse link
Bartter disease type 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bsnd barttin CLCNK type accessory beta subunit ISO
IEA
ClinVar Annotator: match by term: Bartter disease type 4a
ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS
OMIM:602522
ClinVar Annotator: match by OMIM:602522
OMIM
ClinVar
MouseDO
PMID:9463315, PMID:11687798, PMID:11734858, PMID:12574213, PMID:16328537, PMID:16572343, PMID:16583241, PMID:16773427, PMID:16935888, PMID:17954364, PMID:18776122, PMID:19025784, PMID:19096086, PMID:19646679, PMID:21269598, PMID:21541222, PMID:21865213, PMID:23967202, PMID:24033266, PMID:24902942, PMID:25741868, PMID:26467025, PMID:26537508, PMID:28012523, PMID:28492532, PMID:29254190, PMID:30174009 NCBI chr 4:106,483,456...106,492,243
Ensembl chr 4:106,483,456...106,492,283
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 channel, voltage-sensitive 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 4:141,384,611...141,398,706
Ensembl chr 4:141,384,610...141,398,724
JBrowse link
G Clcnkb chloride channel, voltage-sensitive Kb ISO OMIM NCBI chr 4:141,404,357...141,416,055
Ensembl chr 4:141,404,353...141,416,014
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:150,806,421...150,814,362
Ensembl chr  X:150,806,370...150,814,345
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 channel, voltage-sensitive Kb ISO ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria ClinVar PMID:15531551, PMID:16902263, PMID:20810575, PMID:26920127, PMID:28492532 NCBI chr 4:141,404,357...141,416,055
Ensembl chr 4:141,404,353...141,416,014
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 ISO ClinVar Annotator: match by term: Benign familial hematuria
ClinVar Annotator: match by OMIM:141200
OMIM
ClinVar
PMID:11961012, PMID:25307543, PMID:25741868, PMID:19357112 RGD:7242047 NCBI chr 1:82,586,921...82,722,059
Ensembl chr 1:82,586,921...82,722,059
JBrowse link
G Col4a4 collagen, type IV, alpha 4 ISO ClinVar Annotator: match by term: Benign familial hematuria
ClinVar Annotator: match by synonym: THIN MEMBRANE NEPHROPATHY
ClinVar
OMIM
PMID:8787673, PMID:9792860, PMID:11961012, PMID:12325029, PMID:14582039, PMID:16338941, PMID:17216251, PMID:24052634, PMID:25525159, PMID:25741868, PMID:26467025, PMID:26809805, PMID:28492532, PMID:30311386, PMID:19357112 RGD:7242047 NCBI chr 1:82,448,419...82,587,034
Ensembl chr 1:82,448,423...82,586,849
JBrowse link
G Col4a5 collagen, type IV, alpha 5 ISO ClinVar Annotator: match by term: Familial hematuria ClinVar NCBI chr  X:141,475,370...141,689,236
Ensembl chr  X:141,475,385...141,689,234
JBrowse link
G Lama5 laminin, alpha 5 ISO ClinVar Annotator: match by term: Familial hematuria ClinVar NCBI chr 2:180,176,373...180,225,904
Ensembl chr 2:180,176,373...180,225,859
JBrowse link
Bifid Nose with or without Anorectal And Renal Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frem1 Fras1 related extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Bifid nose with or without anorectal and renal anomalies
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:608980
OMIM
ClinVar
CTD
PMID:11822703, PMID:19732862, PMID:23221805, PMID:25741868 NCBI chr 4:82,897,920...83,052,506
Ensembl chr 4:82,897,920...83,052,339
JBrowse link
bladder calculus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl-hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22232670 NCBI chr12:35,497,979...35,534,989
Ensembl chr12:35,497,974...35,535,038
JBrowse link
bladder carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Bladder carcinoma ClinVar PMID:7773297, PMID:8589699, PMID:8845844, PMID:9438390, PMID:9843049, PMID:10471491, PMID:11038465, PMID:11055896, PMID:11314002, PMID:11429702, PMID:11879084, PMID:12009017, PMID:15772091, PMID:15880580, PMID:16841094, PMID:16912704, PMID:17384684, PMID:18000903, PMID:19088846, PMID:19331127, PMID:19381019, PMID:19749790, PMID:20453470, PMID:20542753, PMID:21273588, PMID:21510009, PMID:22869148, PMID:23200862, PMID:24476948, PMID:25157968, PMID:25606676, PMID:25741868, PMID:26619011, PMID:28249712, PMID:28492532, PMID:30311386 NCBI chr 5:33,721,724...33,737,068
Ensembl chr 5:33,721,674...33,737,068
JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO ClinVar Annotator: match by term: Bladder carcinoma ClinVar PMID:16443854, PMID:18039947, PMID:19382114, PMID:21850009, PMID:22499344, PMID:22683711, PMID:22926243, PMID:24033266, PMID:25157968, PMID:25741868, PMID:26619011 NCBI chr 7:141,189,934...141,194,019
Ensembl chr 7:141,189,105...141,194,005
JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Bladder carcinoma ClinVar PMID:16443854, PMID:18039947, PMID:19382114, PMID:21850009, PMID:22499344, PMID:22683711, PMID:22926243, PMID:24033266, PMID:25157968, PMID:25741868, PMID:26619011 NCBI chr 7:141,194,111...141,210,055
Ensembl chr 7:141,194,157...141,210,055
JBrowse link
G Pmf1 polyamine-modulated factor 1 disease_progression ISO RGD PMID:22682992 RGD:30296649 NCBI chr 3:88,394,138...88,410,445
Ensembl chr 3:88,394,143...88,410,331
JBrowse link
bladder disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrm3 cholinergic receptor, muscarinic 3, cardiac ISO CTD Direct Evidence: marker/mechanism CTD PMID:22077972, PMID:17922784 RGD:5133442 NCBI chr13:9,875,486...10,361,062
Ensembl chr13:9,875,486...10,360,847
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:urinary bladder RGD PMID:17763394 RGD:2315846 NCBI chr 3:37,348,477...37,410,106
Ensembl chr 3:37,348,346...37,410,108
JBrowse link
G Ins2 insulin II ISO CTD Direct Evidence: therapeutic CTD PMID:2055425 NCBI chr 7:142,678,656...142,679,726
Ensembl chr 7:142,678,656...142,743,381
JBrowse link
G Myocd myocardin IEA MouseDO NCBI chr11:65,173,608...65,269,989
Ensembl chr11:65,176,561...65,269,989
JBrowse link
G Ngf nerve growth factor IMP associated with Diabetes Mellitus, Experimental RGD PMID:15448108 RGD:7242800 NCBI chr 3:102,469,919...102,521,013
Ensembl chr 3:102,469,919...102,521,013
JBrowse link
G Rassf1 Ras association (RalGDS/AF-6) domain family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23527093 NCBI chr 9:107,551,434...107,562,267
Ensembl chr 9:107,551,555...107,562,267
JBrowse link
G Rgs2 regulator of G-protein signaling 2 treatment ISO associated with hypertension RGD PMID:19689474 RGD:9684972 NCBI chr 1:143,999,338...144,004,149
Ensembl chr 1:143,999,338...144,004,161
JBrowse link
G Rgs3 regulator of G-protein signaling 3 treatment ISO associated with hypertension RGD PMID:19689474 RGD:9684972 NCBI chr 4:62,559,835...62,703,019
Ensembl chr 4:62,559,847...62,704,001
JBrowse link
G Rgs4 regulator of G-protein signaling 4 treatment ISO associated with hypertension RGD PMID:19689474 RGD:9684972 NCBI chr 1:169,741,477...169,747,642
Ensembl chr 1:169,741,477...169,747,642
JBrowse link
G Slc18a3 solute carrier family 18 (vesicular monoamine), member 3 ISO associated with Spinal Cord Injuries;protein:decreased expression:axon terminus RGD PMID:17229408 RGD:5686699 NCBI chr14:32,462,437...32,464,850
Ensembl chr14:32,462,438...32,464,850
JBrowse link
G Timp3 tissue inhibitor of metalloproteinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23527093 NCBI chr10:86,300,412...86,349,505
Ensembl chr10:86,300,372...86,349,506
JBrowse link
G Vip vasoactive intestinal polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:18299998 NCBI chr10:5,639,193...5,647,617
Ensembl chr10:5,639,218...5,647,617
JBrowse link
bladder diverticulum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Efemp1 epidermal growth factor-containing fibulin-like extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Diverticulum of bladder ClinVar PMID:25741868 NCBI chr11:28,853,154...28,926,743
Ensembl chr11:28,853,204...28,926,743
JBrowse link
BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna3 cholinergic receptor, nicotinic, alpha polypeptide 3 ISO ClinVar Annotator: match by term: Acontractile detrusor
ClinVar Annotator: match by term: CHRNA3-related condition
ClinVar
OMIM
PMID:25741868, PMID:31708116 NCBI chr 9:55,010,117...55,026,562
Ensembl chr 9:55,010,111...55,026,562
JBrowse link
bladder exstrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lztr1 leucine-zipper-like transcriptional regulator, 1 ISO ClinVar Annotator: match by term: Bladder exstrophy ClinVar NCBI chr16:17,508,260...17,526,333
Ensembl chr16:17,508,688...17,526,333
JBrowse link
G Trp63 transformation related protein 63 IEA OMIM:600057 MouseDO NCBI chr16:25,683,763...25,892,088
Ensembl chr16:25,683,763...25,892,102
JBrowse link
bladder exstrophy-epispadias-cloacal exstrophy complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fzd5 frizzled class receptor 5 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr 1:64,730,558...64,737,750
Ensembl chr 1:64,730,558...64,737,751
JBrowse link
G Isl1 ISL1 transcription factor, LIM/homeodomain ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr13:116,298,270...116,309,688
Ensembl chr13:116,298,281...116,309,689
JBrowse link
G Lrp10 low-density lipoprotein receptor-related protein 10 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr14:54,464,137...54,470,292
Ensembl chr14:54,464,137...54,471,497
JBrowse link
G Trp63 transformation related protein 63 ISO DNA:deletion, insertion, SNPs: :multiple RGD PMID:23284286 RGD:11568641 NCBI chr16:25,683,763...25,892,088
Ensembl chr16:25,683,763...25,892,102
JBrowse link
G Wnt10a wingless-type MMTV integration site family, member 10A ISO ClinVar Annotator: match by term: BLADDER EXSTROPHY AND EPISPADIAS COMPLEX ClinVar PMID:22581971, PMID:23401279, PMID:24398796, PMID:28492532, PMID:30426266 NCBI chr 1:74,792,019...74,804,176
Ensembl chr 1:74,791,516...74,804,179
JBrowse link
G Wnt11 wingless-type MMTV integration site family, member 11 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr 7:98,835,084...98,854,747
Ensembl chr 7:98,835,112...98,855,195
JBrowse link
G Wnt3 wingless-type MMTV integration site family, member 3 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr11:103,774,175...103,818,021
Ensembl chr11:103,774,150...103,817,957
JBrowse link
G Wnt6 wingless-type MMTV integration site family, member 6 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr 1:74,754,342...74,785,322
Ensembl chr 1:74,771,892...74,785,322
JBrowse link
G Wnt7a wingless-type MMTV integration site family, member 7A ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr 6:91,363,981...91,411,353
Ensembl chr 6:91,363,981...91,411,363
JBrowse link
bladder neck obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adra1a adrenergic receptor, alpha 1a ISO RGD PMID:20886573 RGD:5688368 NCBI chr14:66,635,251...66,771,240
Ensembl chr14:66,635,251...66,771,168
JBrowse link
G Col1a1 collagen, type I, alpha 1 treatment ISO RGD PMID:23313213 RGD:7257549 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Col3a1 collagen, type III, alpha 1 treatment ISO RGD PMID:23313213 RGD:7257549 NCBI chr 1:45,311,538...45,349,706
Ensembl chr 1:45,311,538...45,349,706
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO RGD PMID:21356374 RGD:7257709 NCBI chr 9:54,165,937...54,268,164
Ensembl chr 9:54,165,937...54,268,110
JBrowse link
G Eln elastin treatment ISO RGD PMID:23313213 RGD:7257549 NCBI chr 5:134,702,595...134,747,368
Ensembl chr 5:134,702,593...134,747,323
JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit ISO protein:increased expression:urinary bladder (rat) RGD PMID:12118092 RGD:9068887 NCBI chr12:73,901,324...73,947,554
Ensembl chr12:73,901,375...73,947,530
JBrowse link
G Htr2a 5-hydroxytryptamine (serotonin) receptor 2A ISO mRNA:increased expression:urinary bladder RGD PMID:23344575 RGD:7257660 NCBI chr14:74,640,874...74,706,859
Ensembl chr14:74,640,840...74,709,494
JBrowse link
G Mmp7 matrix metallopeptidase 7 treatment ISO RGD PMID:23313213 RGD:7257549 NCBI chr 9:7,692,090...7,699,585
Ensembl chr 9:7,692,090...7,699,585
JBrowse link
G Ngf nerve growth factor treatment ISO RGD PMID:22795377 RGD:7242774 NCBI chr 3:102,469,919...102,521,013
Ensembl chr 3:102,469,919...102,521,013
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO mRNA:decreased expression:urinary bladder RGD PMID:21256554 RGD:4891960 NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
G Optn optineurin ISO protein:increased expression:urinary bladder: RGD PMID:16361812 RGD:7775024 NCBI chr 2:5,020,521...5,064,399
Ensembl chr 2:5,020,642...5,064,051
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15311063 NCBI chr 1:150,100,031...150,108,234
Ensembl chr 1:150,100,031...150,108,227
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO RGD PMID:21060756 RGD:7175518 NCBI chr17:13,007,839...13,018,119
Ensembl chr17:13,006,846...13,040,063
JBrowse link
bladder urothelial carcinoma term browser