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

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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


show annotations for term's descendants           Sort by:
 
urinary system disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP4 bone morphogenetic protein 4 ISS MouseDO NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G LZTS2 leucine zipper tumor suppressor 2 ISS MouseDO NCBI chr10:100,997,065...101,007,836
Ensembl chr10:100,996,618...101,007,836
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 IAGP ClinVar Annotator: match by term: 46,XX gonadal dysgenesis ClinVar PMID:29566152 NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,357,223
JBrowse link
G WNT4 Wnt family member 4 IAGP ClinVar Annotator: match by term: Serkal syndrome ClinVar
OMIM
PMID:18179883, PMID:25741868 NCBI chr 1:22,117,308...22,143,981
Ensembl chr 1:22,117,313...22,143,969
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chr12:9,067,708...9,116,229
Ensembl chr12:9,067,664...9,116,229
JBrowse link
G ACE angiotensin I converting enzyme treatment ISO RGD PMID:24502693 RGD:11039053 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G ADRB2 adrenoceptor beta 2 treatment ISO
IMP
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 chr 5:148,826,611...148,828,623
Ensembl chr 5:148,825,245...148,828,687
JBrowse link
G AFM afamin EXP CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 4:73,481,745...73,504,001
Ensembl chr 4:73,481,745...73,504,001
JBrowse link
G AGER advanced glycosylation end-product specific receptor IDA RGD PMID:21811803 RGD:7243868 NCBI chr 6:32,180,969...32,184,380
Ensembl chr 6:32,180,968...32,184,322
JBrowse link
G AHSG alpha 2-HS glycoprotein EXP CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 3:186,613,060...186,621,318
Ensembl chr 3:186,613,060...186,621,318
JBrowse link
G ALAD aminolevulinate dehydratase ISO protein:decreased activity:kidney (rat) RGD PMID:19484701 RGD:4144146 NCBI chr 9:113,386,312...113,401,301
Ensembl chr 9:113,386,312...113,401,290
JBrowse link
G ALB albumin EXP CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:2048579, PMID:21259293, PMID:24361871, PMID:28885000 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
G ALOX5 arachidonate 5-lipoxygenase ISO RGD PMID:19194548 RGD:2317536 NCBI chr10:45,374,209...45,446,121
Ensembl chr10:45,374,176...45,446,119
JBrowse link
G AMBP alpha-1-microglobulin/bikunin precursor IMP
EXP
CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:8963945, PMID:28885000, PMID:8963945 RGD:6904218 NCBI chr 9:114,060,127...114,078,300
Ensembl chr 9:114,060,127...114,078,328
JBrowse link
G AMN amnion associated transmembrane protein EXP CTD Direct Evidence: therapeutic CTD PMID:20514524 NCBI chr14:102,922,430...102,933,597
Ensembl chr14:102,922,656...102,933,596
Ensembl chr14:102,922,656...102,933,596
JBrowse link
G ANXA1 annexin A1 treatment ISO RGD PMID:22101490 RGD:7421583 NCBI chr 9:73,151,865...73,170,393
Ensembl chr 9:73,151,865...73,170,393
JBrowse link
G AR androgen receptor ISO RGD PMID:24503548 RGD:11570523 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619
JBrowse link
G ARG1 arginase 1 ISO mRNA:decreased expression:renal tubule (rat) RGD PMID:12371970 RGD:631989 NCBI chr 6:131,573,226...131,584,329
Ensembl chr 6:131,470,832...131,584,332
JBrowse link
G ARG2 arginase 2 ISO mRNA:decreased expression:renal tubule (rat) RGD PMID:12371970 RGD:631989 NCBI chr14:67,619,920...67,651,708
Ensembl chr14:67,619,920...67,651,708
JBrowse link
G ATP5F1B ATP synthase F1 subunit beta ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:25666834 NCBI chr12:56,638,175...56,645,984
Ensembl chr12:56,638,175...56,645,984
JBrowse link
G AVP arginine vasopressin EXP CTD Direct Evidence: marker/mechanism CTD PMID:2139164 NCBI chr20:3,082,556...3,093,521
Ensembl chr20:3,082,556...3,084,724
JBrowse link
G AVPR1A arginine vasopressin receptor 1A ISO RGD PMID:17347933 RGD:2300348 NCBI chr12:63,142,759...63,151,201
Ensembl chr12:63,142,759...63,150,942
Ensembl chr12:63,142,759...63,150,942
JBrowse link
G B2M beta-2-microglobulin ISO
EXP
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD PMID:2689182, PMID:22005293, PMID:28885000, PMID:19536607 RGD:6482685 NCBI chr15:44,711,492...44,718,145
Ensembl chr15:44,711,487...44,718,877
JBrowse link
G BAD BCL2 associated agonist of cell death treatment ISO RGD PMID:20037173 RGD:10053672 NCBI chr11:64,269,828...64,284,704
Ensembl chr11:64,269,830...64,284,704
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:20623750, PMID:20037173 RGD:10053672 NCBI chr19:48,954,825...48,961,798
Ensembl chr19:48,954,815...48,961,798
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO protein:increased expression:kidney RGD PMID:20037173 RGD:10053672 NCBI chr18:63,123,346...63,320,280
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G BCL2L1 BCL2 like 1 ISO protein:increased expression:kidney RGD PMID:20037173 RGD:10053672 NCBI chr20:31,664,452...31,723,963
Ensembl chr20:31,664,452...31,723,989
JBrowse link
G BDKRB2 bradykinin receptor B2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24975837 NCBI chr14:96,204,839...96,244,164
Ensembl chr14:96,204,679...96,244,166
JBrowse link
G C3 complement C3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G CAPN1 calpain 1 treatment ISO associated with Rhabdomyolysis; RGD PMID:24158126 RGD:13792553 NCBI chr11:65,181,373...65,212,006
Ensembl chr11:65,180,566...65,212,006
JBrowse link
G CASP1 caspase 1 ISO RGD PMID:16557226 RGD:2293624 NCBI chr11:105,025,443...105,035,591
Ensembl chr11:105,025,443...105,035,250
JBrowse link
G CCL11 C-C motif chemokine ligand 11 ISO protein:increased expression:kidney RGD PMID:22778179 RGD:7247739 NCBI chr17:34,285,742...34,288,334
Ensembl chr17:34,285,742...34,288,334
JBrowse link
G CCL3 C-C motif chemokine ligand 3 IEP RGD PMID:20482449 RGD:6906908 NCBI chr17:36,088,256...36,090,143
Ensembl chr17:36,088,256...36,090,169
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO protein:increased secretion:serum (mouse) RGD PMID:19508392 RGD:4889990 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
JBrowse link
G CCR5 C-C motif chemokine receptor 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26055553 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,854...46,376,206
JBrowse link
G CCT7 chaperonin containing TCP1 subunit 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:31825490 NCBI chr 2:73,233,425...73,253,008
Ensembl chr 2:73,233,420...73,253,021
JBrowse link
G CD44 CD44 molecule (Indian blood group) EXP CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chr11:35,139,168...35,232,402
Ensembl chr11:35,138,882...35,232,402
Ensembl chr11:35,138,882...35,232,402
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO protein:decreased expression:kidney RGD PMID:16557226 RGD:2293624 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,715,058...12,722,369
JBrowse link
G CLU clusterin ISO
EXP
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 chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
JBrowse link
G CP ceruloplasmin EXP CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 3:149,162,410...149,222,008
Ensembl chr 3:149,162,410...149,221,829
JBrowse link
G CRP C-reactive protein ISO
IDA
protein:increased expression:serum
associated with Myocardial Infarction;
RGD PMID:22551254, PMID:22694718 RGD:6903282, RGD:6906888 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G CSF1 colony stimulating factor 1 ISO RGD PMID:23143303 RGD:7257565 NCBI chr 1:109,910,506...109,930,992
Ensembl chr 1:109,910,242...109,930,992
JBrowse link
G CSF1R colony stimulating factor 1 receptor ISO RGD PMID:23143303 RGD:7257565 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372
JBrowse link
G CST3 cystatin C EXP CTD Direct Evidence: marker/mechanism CTD PMID:22005293, PMID:28885000 NCBI chr20:23,626,706...23,637,955
Ensembl chr20:23,626,706...23,638,473
JBrowse link
G CXCL1 C-X-C motif chemokine ligand 1 ISO mRNA:increased expression:kidney, liver, spleen RGD PMID:21677145 RGD:7175314 NCBI chr 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 treatment ISO RGD PMID:19890363, PMID:18495746 RGD:7257732, RGD:7257735 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536
JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 treatment ISO RGD PMID:23981375, PMID:18495746 RGD:7257727, RGD:7257735 NCBI chr15:74,748,845...74,756,607
Ensembl chr15:74,748,845...74,756,607
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO RGD PMID:6223803 RGD:2307326 NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986
JBrowse link
G CYP2C19 cytochrome P450 family 2 subfamily C member 19 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19814645 NCBI chr10:94,762,681...94,855,547
Ensembl chr10:94,762,681...94,855,547
JBrowse link
G CYP2C9 cytochrome P450 family 2 subfamily C member 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19814645 NCBI chr10:94,938,658...94,990,091
Ensembl chr10:94,938,658...94,990,091
JBrowse link
G CYP2D6 cytochrome P450 family 2 subfamily D member 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19814645 NCBI chr22:42,126,499...42,130,810
Ensembl chr22:42,126,499...42,130,881
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 treatment ISO RGD PMID:24717297, PMID:24412858 RGD:14700914, RGD:14700920 NCBI chr10:133,527,363...133,539,123
Ensembl chr10:133,520,406...133,561,220
JBrowse link
G DDIT3 DNA damage inducible transcript 3 ISO Protein:increased expression:renal tubule epithelium RGD PMID:15476864 RGD:1599736 NCBI chr12:57,516,588...57,520,517
Ensembl chr12:57,516,588...57,521,737
JBrowse link
G ECE1 endothelin converting enzyme 1 ISO RGD PMID:11043448, PMID:10073607 RGD:7244180, RGD:7244185 NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572
JBrowse link
G EDN1 endothelin 1 ISO
EXP
mRNA, protein:increased expression:kidney (mouse)
CTD Direct Evidence: marker/mechanism
CTD PMID:9788586, PMID:19967049 RGD:4144852 NCBI chr 6:12,256,463...12,297,194
Ensembl chr 6:12,290,361...12,297,194
JBrowse link
G EGF epidermal growth factor IEP
ISO
mRNA:decreased expression:kidney RGD PMID:20482449, PMID:11340354 RGD:6906908, RGD:10395241 NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766
JBrowse link
G EGFR epidermal growth factor receptor ISO
EXP
mRNA:increased expression:kidney
CTD Direct Evidence: therapeutic
CTD PMID:14638913, PMID:11340354 RGD:10395241 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G EGLN1 egl-9 family hypoxia inducible factor 1 ISO mRNA, protein:decreased expression:kidney RGD PMID:19349364 RGD:11252083 NCBI chr 1:231,363,756...231,422,332
Ensembl chr 1:231,363,751...231,422,287
JBrowse link
G EGLN3 egl-9 family hypoxia inducible factor 3 ISO mRNA, protein:decreased expression:kidney RGD PMID:19349364 RGD:11252083 NCBI chr14:33,924,227...33,951,074
Ensembl chr14:33,924,227...34,462,774
JBrowse link
G EPAS1 endothelial PAS domain protein 1 treatment ISO RGD PMID:16762988 RGD:10395386 NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697
JBrowse link
G EPHX2 epoxide hydrolase 2 EXP CTD Direct Evidence: therapeutic CTD PMID:26165641 NCBI chr 8:27,491,143...27,597,559
Ensembl chr 8:27,490,781...27,545,564
JBrowse link
G EPO erythropoietin treatment IDA
EXP
CTD Direct Evidence: therapeutic CTD PMID:21847101, PMID:24561306, PMID:22209169, PMID:22235348 RGD:10400913, RGD:11041660 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
JBrowse link
G FAS Fas cell surface death receptor IEP protein:increased expression:renal tubule (rat) RGD PMID:21374789 RGD:8663469 NCBI chr10:88,968,429...89,017,059
Ensembl chr10:88,990,531...89,017,059
JBrowse link
G FGA fibrinogen alpha chain ISO mRNA:increased expression:kidney (rat) RGD PMID:15805072 RGD:9685024 NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,128...154,590,745
JBrowse link
G FIS1 fission, mitochondrial 1 ISO protein:decreased expression:kidney (rat) RGD PMID:26480480 RGD:12910862 NCBI chr 7:101,239,472...101,245,081
Ensembl chr 7:101,239,458...101,252,316
JBrowse link
G FN1 fibronectin 1 ISO protein:increased expression:kidney RGD PMID:12884040, PMID:11768240 RGD:7205684, RGD:729934 NCBI chr 2:215,360,862...215,436,167
Ensembl chr 2:215,360,440...215,436,073
JBrowse link
G FSTL1 follistatin like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20861081 NCBI chr 3:120,392,293...120,450,993
Ensembl chr 3:120,392,293...120,450,993
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase EXP CTD Direct Evidence: marker/mechanism CTD PMID:602954, PMID:734759, PMID:4794122 NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,531,391...154,547,572
JBrowse link
G GAS6 growth arrest specific 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19564549 NCBI chr13:113,820,549...113,864,076
Ensembl chr13:113,820,549...113,864,076
JBrowse link
G GATM glycine amidinotransferase ISO protein:decreased activity:kidney (rat) RGD PMID:2752493 RGD:1599823 NCBI chr15:45,361,124...45,402,227
Ensembl chr15:45,361,124...45,402,327
JBrowse link
G GC GC vitamin D binding protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 4:71,741,693...71,805,520
Ensembl chr 4:71,741,696...71,804,041
JBrowse link
G GFER growth factor, augmenter of liver regeneration treatment ISO
EXP
protein:increased expression:cortex of kidney,renal medulla:
CTD Direct Evidence: therapeutic
CTD PMID:20030531, PMID:20030531, PMID:20030531 RGD:9685736, RGD:9685736 NCBI chr16:1,984,193...1,987,749
Ensembl chr16:1,984,193...1,987,749
JBrowse link
G GHRL ghrelin and obestatin prepropeptide ISO RGD PMID:19625378 RGD:7242430 NCBI chr 3:10,285,666...10,292,947
Ensembl chr 3:10,285,666...10,292,947
JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO protein:decreased activity:kidney (rat) RGD PMID:23924727 RGD:13506245 NCBI chr16:58,707,131...58,734,316
Ensembl chr16:58,707,131...58,734,342
JBrowse link
G GPNMB glycoprotein nmb EXP CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chr 7:23,246,766...23,275,110
Ensembl chr 7:23,235,967...23,275,108
JBrowse link
G GSK3B glycogen synthase kinase 3 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:22785175 NCBI chr 3:119,821,321...120,095,823
Ensembl chr 3:119,821,323...120,094,417
Ensembl chr 3:119,821,323...120,094,417
JBrowse link
G GSR glutathione-disulfide reductase ISO glycerol-induced
protein:decreased activity:kidney:
RGD PMID:1870354, PMID:22286819 RGD:7257559, RGD:7257585 NCBI chr 8:30,678,066...30,727,846
Ensembl chr 8:30,678,066...30,727,846
JBrowse link
G GSTA1 glutathione S-transferase alpha 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 6:52,791,371...52,803,827
Ensembl chr 6:52,791,371...52,803,860
JBrowse link
G GSTM2 glutathione S-transferase mu 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20623750 NCBI chr 1:109,668,057...109,683,997
Ensembl chr 1:109,668,022...109,709,551
JBrowse link
G GSTP1 glutathione S-transferase pi 1 IEP
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:20623750, PMID:20798258 RGD:6903954 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
Ensembl chr11:67,583,742...67,586,656
JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 ISO
EXP
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 chr 5:157,028,383...157,069,633
Ensembl chr 5:157,029,413...157,059,119
JBrowse link
G HBEGF heparin binding EGF like growth factor ISO
EXP
mRNA:increased expression:kidney
CTD Direct Evidence: marker/mechanism
CTD PMID:7635938, PMID:11340354 RGD:10395241 NCBI chr 5:140,332,843...140,346,603
Ensembl chr 5:140,332,843...140,346,603
JBrowse link
G HBG2 hemoglobin subunit gamma 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:562503, PMID:851170 NCBI chr11:5,253,188...5,254,781
Ensembl chr11:5,253,188...5,505,605
JBrowse link
G HDAC2 histone deacetylase 2 treatment ISO associated with sepsis; RGD PMID:22933299 RGD:9590257 NCBI chr 6:113,933,028...113,971,148
Ensembl chr 6:113,933,028...114,011,308
JBrowse link
G HDAC3 histone deacetylase 3 ISO RGD PMID:21416250 RGD:10047111 NCBI chr 5:141,620,881...141,636,849
Ensembl chr 5:141,620,876...141,636,849
JBrowse link
G HDAC5 histone deacetylase 5 treatment ISO associated with sepsis; RGD PMID:22933299, PMID:21416250 RGD:9590257, RGD:10047111 NCBI chr17:44,076,753...44,123,651
Ensembl chr17:44,076,746...44,123,702
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 chr 3:194,136,148...194,138,732
Ensembl chr 3:194,136,148...194,138,732
JBrowse link
G HEXB hexosaminidase subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:22005293 NCBI chr 5:74,640,023...74,721,288
Ensembl chr 5:74,640,023...74,722,647
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha treatment ISO mRNA:increased expression:renal cortex (rat) RGD PMID:18593636, PMID:16762988, PMID:15673301 RGD:9068894, RGD:10395386, RGD:10395376 NCBI chr14:61,695,513...61,748,259
Ensembl chr14:61,695,513...61,748,259
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO associated with Sepsis RGD PMID:16557230 RGD:5508471 NCBI chr 5:75,336,334...75,362,116
Ensembl chr 5:75,336,329...75,362,101
JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO
EXP
associated with Sepsis
CTD Direct Evidence: therapeutic
CTD PMID:21048024, PMID:23807243 RGD:10755583 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,207
JBrowse link
G HP haptoglobin ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:28885000, PMID:19270397 RGD:11041863 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
JBrowse link
G HPX hemopexin EXP CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr11:6,431,049...6,440,987
Ensembl chr11:6,431,049...6,442,617
JBrowse link
G HSPA1A heat shock protein family A (Hsp70) member 1A EXP CTD Direct Evidence: marker/mechanism CTD PMID:12690470, PMID:19546256 NCBI chr 6:31,815,543...31,817,942
Ensembl chr 6:31,815,543...31,817,946
JBrowse link
G HSPA8 heat shock protein family A (Hsp70) member 8 ISO protein:increased expression:kidney, lysosome (rat) RGD PMID:14966137 RGD:7242786 NCBI chr11:123,057,489...123,062,366
Ensembl chr11:123,057,489...123,063,230
JBrowse link
G ICAM1 intercellular adhesion molecule 1 treatment ISO RGD PMID:22659586 RGD:7175102 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G IFNA2 interferon alpha 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12810204 NCBI chr 9:21,384,255...21,385,398
Ensembl chr 9:21,384,255...21,385,398
JBrowse link
G IGF1 insulin like growth factor 1 EXP CTD Direct Evidence: therapeutic CTD PMID:7540432 NCBI chr12:102,395,860...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO mRNA: decreased expression: kidney: both cortex and medulla RGD PMID:9767523 RGD:7242908 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
JBrowse link
G IGFBP1 insulin like growth factor binding protein 1 EXP CTD Direct Evidence: therapeutic CTD PMID:7540432 NCBI chr 7:45,888,488...45,893,660
Ensembl chr 7:45,888,360...45,893,660
JBrowse link
G IL10 interleukin 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18460982 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL18 interleukin 18 ISO RGD PMID:11342578 RGD:6893450 NCBI chr11:112,143,251...112,164,104
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G IL1A interleukin 1 alpha ISO RGD PMID:21716595 RGD:6907069 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
JBrowse link
G IL1B interleukin 1 beta ISO 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 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL1RN interleukin 1 receptor antagonist IDA
ISO
associated with Sepsis
associated with Asphyxia; rat model treated with human protein
RGD PMID:16763508, PMID:14610321, PMID:16259926 RGD:6907360, RGD:6907375, RGD:6907369 NCBI chr 2:113,099,365...113,134,016
Ensembl chr 2:113,107,214...113,134,016
JBrowse link
G IL20 interleukin 20 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18496552 NCBI chr 1:206,863,565...206,869,223
Ensembl chr 1:206,865,354...206,869,223
JBrowse link
G IL6 interleukin 6 IEP
EXP
associated with Acute Lung Injury;protein:increased expression:plasma
CTD Direct Evidence: therapeutic
CTD PMID:21570986, PMID:18074478 RGD:5128661 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G INS insulin EXP CTD Direct Evidence: marker/mechanism CTD PMID:12243603 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,341
Ensembl chr11:2,159,779...2,161,341
JBrowse link
G KLK1 kallikrein 1 EXP CTD Direct Evidence: therapeutic CTD PMID:18227104 NCBI chr19:50,819,146...50,823,787
Ensembl chr19:50,819,146...50,823,787
JBrowse link
G KNG1 kininogen 1 EXP CTD Direct Evidence: therapeutic CTD PMID:513486, PMID:3015452 NCBI chr 3:186,717,359...186,744,410
Ensembl chr 3:186,717,348...186,744,410
JBrowse link
G LCN2 lipocalin 2 ISO
EXP
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 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
JBrowse link
G LGALS3 galectin 3 ISO mRNA:increased expression:kidney RGD PMID:10980121 RGD:9685228 NCBI chr14:55,129,252...55,145,430
Ensembl chr14:55,124,110...55,145,423
JBrowse link
G LRP2 LDL receptor related protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29286200 NCBI chr 2:169,127,109...169,362,597
Ensembl chr 2:169,127,109...169,362,534
JBrowse link
G MB myoglobin IEP
ISO
protein: increased expression: serum RGD PMID:23497406, PMID:9822635 RGD:7244253, RGD:7244259 NCBI chr22:35,606,764...35,623,354
Ensembl chr22:35,606,764...35,637,951
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO protein:increased expression:renal parenchyma (rat) RGD PMID:17940345 RGD:2317469 NCBI chr 7:116,672,196...116,798,386
Ensembl chr 7:116,672,196...116,798,386
JBrowse link
G MFN1 mitofusin 1 ISO protein:decreased expression:kidney (rat) RGD PMID:26480480 RGD:12910862 NCBI chr 3:179,347,709...179,394,936
Ensembl chr 3:179,347,709...179,394,936
JBrowse link
G MIR10A microRNA 10a EXP CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr17:48,579,838...48,579,947
Ensembl chr17:48,579,838...48,579,947
JBrowse link
G MIR122 microRNA 122 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr18:58,451,074...58,451,158
Ensembl chr18:58,451,074...58,451,158
JBrowse link
G MIR140 microRNA 140 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr16:69,933,081...69,933,180
Ensembl chr16:69,933,081...69,933,180
JBrowse link
G MIR143 microRNA 143 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 5:149,428,918...149,429,023
Ensembl chr 5:149,428,918...149,429,023
JBrowse link
G MIR146B microRNA 146b EXP CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr10:102,436,512...102,436,584
Ensembl chr10:102,436,512...102,436,584
JBrowse link
G MIR148A microRNA 148a EXP CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 7:25,949,919...25,949,986
Ensembl chr 7:25,949,919...25,949,986
JBrowse link
G MIR151A microRNA 151a ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 8:140,732,564...140,732,653
Ensembl chr 8:140,732,564...140,732,653
JBrowse link
G MIR152 microRNA 152 EXP CTD Direct Evidence: marker/mechanism CTD PMID:32583487 NCBI chr17:48,037,161...48,037,247
Ensembl chr17:48,037,161...48,037,247
JBrowse link
G MIR192 microRNA 192 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr11:64,891,137...64,891,246
Ensembl chr11:64,891,137...64,891,246
JBrowse link
G MIR215 microRNA 215 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 1:220,117,853...220,117,962
Ensembl chr 1:220,117,853...220,117,962
JBrowse link
G MIR23A microRNA 23a EXP CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr19:13,836,587...13,836,659
Ensembl chr19:13,836,587...13,836,659
JBrowse link
G MIR25 microRNA 25 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 7:100,093,560...100,093,643
Ensembl chr 7:100,093,560...100,093,643
JBrowse link
G MIR26A1 microRNA 26a-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 3:37,969,404...37,969,480
Ensembl chr 3:37,969,404...37,969,480
JBrowse link
G MIR30A microRNA 30a EXP CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 6:71,403,551...71,403,621
Ensembl chr 6:71,403,551...71,403,621
JBrowse link
G MIR30D microRNA 30d EXP CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 8:134,804,876...134,804,945
Ensembl chr 8:134,804,876...134,804,945
JBrowse link
G MIR486-1 microRNA 486-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 8:41,660,441...41,660,508
Ensembl chr 8:41,660,441...41,660,508
JBrowse link
G MIR99A microRNA 99a EXP CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr21:16,539,089...16,539,169
Ensembl chr21:16,539,089...16,539,169
JBrowse link
G MIRLET7I microRNA let-7i EXP CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr12:62,603,686...62,603,769
Ensembl chr12:62,603,686...62,603,769
JBrowse link
G MPO myeloperoxidase IAGP
EXP
ISO
DNA:haplotye: :
CTD Direct Evidence: marker/mechanism
CTD PMID:20623750, PMID:22739978, PMID:19793022 RGD:6909168, RGD:6909185 NCBI chr17:58,269,855...58,280,935
Ensembl chr17:58,269,855...58,280,935
JBrowse link
G MTHFR methylenetetrahydrofolate reductase EXP CTD Direct Evidence: marker/mechanism CTD PMID:17387702 NCBI chr 1:11,785,723...11,806,103
Ensembl chr 1:11,785,723...11,806,455
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO RGD PMID:23022334 RGD:7245507 NCBI chr 1:11,106,535...11,273,497
Ensembl chr 1:11,106,535...11,262,551
JBrowse link
G MUC20 mucin 20, cell surface associated ISO RGD PMID:14565953 RGD:7364790 NCBI chr 3:195,720,978...195,733,551
Ensembl chr 3:195,720,884...195,741,123
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor susceptibility ISO protein:decreased phosphorylation:kidney (mouse) RGD PMID:23228991 RGD:7207407 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 ISO RGD PMID:22160772 RGD:13801199 NCBI chr10:100,523,729...100,529,923
Ensembl chr10:100,505,628...100,529,881
Ensembl chr10:100,505,628...100,529,881
JBrowse link
G NES nestin ISO RGD PMID:24503548 RGD:11570523 NCBI chr 1:156,668,763...156,677,407
Ensembl chr 1:156,668,763...156,677,407
JBrowse link
G NFE2L2 nuclear factor, erythroid 2 like 2 treatment ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:24958931, PMID:24291173 RGD:10412697 NCBI chr 2:177,230,303...177,265,131
Ensembl chr 2:177,227,595...177,392,697
JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29286200 NCBI chr 4:102,501,266...102,617,302
Ensembl chr 4:102,501,331...102,617,302
JBrowse link
G NOS1 nitric oxide synthase 1 ISO RGD PMID:14531809 RGD:13825139 NCBI chr12:117,208,142...117,361,626
Ensembl chr12:117,208,142...117,452,170
JBrowse link
G NOS2 nitric oxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9810145 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G NOS3 nitric oxide synthase 3 ISO
EXP
in females;mRNA:increased expression:cortex of kidney (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:9788586, PMID:28947737 RGD:13450947 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G NPPA natriuretic peptide A ISO
EXP
mRNA:increased expression:kidney
CTD Direct Evidence: marker/mechanism|therapeutic
CTD PMID:1825077, PMID:2948068, PMID:19298916, PMID:22209992 RGD:7247715 NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345
JBrowse link
G NPPB natriuretic peptide B IEP
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 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945
JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 treatment ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:26723870, PMID:28230744 RGD:13440091 NCBI chr16:69,709,401...69,726,560
Ensembl chr16:69,706,996...69,726,668
JBrowse link
G OCLN occludin EXP CTD Direct Evidence: marker/mechanism CTD PMID:19766176 NCBI chr 5:69,492,547...69,558,104
Ensembl chr 5:69,492,292...69,558,104
JBrowse link
G ORM1 orosomucoid 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 9:114,323,098...114,326,479
Ensembl chr 9:114,323,056...114,326,475
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO RGD PMID:21884784 RGD:5510015 NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,691...226,408,093
JBrowse link
G PKD2 polycystin 2, transient receptor potential cation channel ISO protein:altered localization RGD PMID:12089381 RGD:7175293 NCBI chr 4:88,007,635...88,077,779
Ensembl chr 4:88,007,635...88,077,777
JBrowse link
G PLAT plasminogen activator, tissue type IEP protein:increased expression:plasma (human) RGD PMID:9767551 RGD:11541071 NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,676
JBrowse link
G PLG plasminogen EXP CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 6:160,702,193...160,754,097
Ensembl chr 6:160,702,238...160,754,097
Ensembl chr 6:160,702,238...160,754,097
JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: therapeutic CTD PMID:17216604 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma treatment ISO
EXP
CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:20623750, PMID:24011919, PMID:24433871, PMID:17494862 RGD:8553020 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO associated with Endotoxemia; mRNA:decreased expression:kidney (mouse) RGD PMID:21881206 RGD:7242026 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa treatment IDA RGD PMID:19092124 RGD:11250410 NCBI chr 2:127,418,143...127,429,246
Ensembl chr 2:127,418,427...127,429,246
Ensembl chr 2:127,418,427...127,429,246
JBrowse link
G PROCR protein C receptor treatment ISO associated with Sepsis RGD PMID:23807243 RGD:10755583 NCBI chr20:35,172,072...35,215,989
Ensembl chr20:35,172,072...35,216,240
JBrowse link
G PTAFR platelet activating factor receptor treatment ISO associated with Endotoxemia RGD PMID:2538527 RGD:10043182 NCBI chr 1:28,147,166...28,193,856
Ensembl chr 1:28,147,166...28,193,936
JBrowse link
G PTGER4 prostaglandin E receptor 4 treatment ISO RGD PMID:16871242 RGD:10003092 NCBI chr 5:40,679,915...40,740,936
Ensembl chr 5:40,679,915...40,693,735
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:21893983 RGD:5508181 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,423
JBrowse link
G RAPGEF3 Rap guanine nucleotide exchange factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21745194 NCBI chr12:47,734,363...47,758,880
Ensembl chr12:47,734,363...47,771,040
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO associated with Sepsis;protein:increased phosphorylation:kidney RGD PMID:19428114 RGD:8547990 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
Ensembl chr13:48,303,744...48,599,436
JBrowse link
G SCGB1A1 secretoglobin family 1A member 1 ISO associated with LPS induced endotoxemia RGD PMID:18824919 RGD:2313129 NCBI chr11:62,419,033...62,423,195
Ensembl chr11:62,405,103...62,423,195
JBrowse link
G SERPINA1 serpin family A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr14:94,376,747...94,390,654
Ensembl chr14:94,376,747...94,390,693
JBrowse link
G SERPINC1 serpin family C member 1 IEP associated with heart failure; protein:decreased activity:plasma: RGD PMID:26108065 RGD:11354006 NCBI chr 1:173,903,800...173,917,327
Ensembl chr 1:173,903,804...173,917,378
JBrowse link
G SIRT1 sirtuin 1 severity ISO
EXP
protein:increased expression:kidney (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:21416250, PMID:21416250 RGD:10047111 NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390
JBrowse link
G SLC11A1 solute carrier family 11 member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20623750 NCBI chr 2:218,381,766...218,396,894
Ensembl chr 2:218,382,029...218,396,894
JBrowse link
G SLC22A1 solute carrier family 22 member 1 treatment ISO RGD PMID:22414646 RGD:7243179 NCBI chr 6:160,121,808...160,160,590
Ensembl chr 6:160,121,815...160,158,718
JBrowse link
G SLC22A12 solute carrier family 22 member 12 EXP CTD Direct Evidence: marker/mechanism CTD PMID:14655203 NCBI chr11:64,591,219...64,603,250
Ensembl chr11:64,590,641...64,602,353
JBrowse link
G SLC22A2 solute carrier family 22 member 2 treatment
susceptibility
ISO
IAGP
DNA:SNP: :808G>T (rs316019) human
mRNA:decreased expression:kidney
RGD PMID:22414646, PMID:19625999, PMID:18612803 RGD:7243179, RGD:7243884, RGD:7243880 NCBI chr 6:160,216,755...160,258,821
Ensembl chr 6:160,171,061...160,277,638
JBrowse link
G SLC22A24 solute carrier family 22 member 24 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23649842, PMID:26230185 NCBI chr11:63,079,940...63,144,221
Ensembl chr11:63,079,940...63,144,221
JBrowse link
G SLC34A1 solute carrier family 34 member 1 disease_progression ISO associated with Sepsis; protein:decreased expression:renal proximal tubule (mouse) RGD PMID:19729856 RGD:7242943 NCBI chr 5:177,384,434...177,412,021
Ensembl chr 5:177,379,235...177,398,848
JBrowse link
G SOD1 superoxide dismutase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,622...31,668,931
Ensembl chr21:31,659,622...31,668,931
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:11274264, PMID:20623750, PMID:22863853 RGD:6903264 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,650...87,983,426
JBrowse link
G TF transferrin EXP CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641
JBrowse link
G TFF3 trefoil factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chr21:42,311,667...42,315,409
Ensembl chr21:42,311,667...42,315,651
JBrowse link
G TGFA transforming growth factor alpha ISO mRNA:increased expression:kidney RGD PMID:11340354 RGD:10395241 NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
JBrowse link
G TGFB1 transforming growth factor beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10469268 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G THBD thrombomodulin treatment ISO
IMP
RGD PMID:19176699, PMID:17804460 RGD:5684994, RGD:5685010 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
JBrowse link
G TLR2 toll like receptor 2 ISO
EXP
associated with Sepsis
CTD Direct Evidence: marker/mechanism
CTD PMID:29286200, PMID:22655058 RGD:7207898 NCBI chr 4:153,684,080...153,710,643
Ensembl chr 4:153,684,070...153,706,260
Ensembl chr 4:153,684,070...153,706,260
JBrowse link
G TLR4 toll like receptor 4 treatment ISO
EXP
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 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TLR9 toll like receptor 9 ISO associated with Sepsis RGD PMID:23548820 RGD:7245966 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,226,163
JBrowse link
G TNF tumor necrosis factor susceptibility ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:16595132, PMID:18460982, PMID:20623750, PMID:21150875 RGD:7245548 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF12A TNF receptor superfamily member 12A EXP CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chr16:3,020,368...3,022,383
Ensembl chr16:3,018,445...3,022,383
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A susceptibility IEP
ISO
associated with Acute Lung Injury
associated with Endotoxemia
associated with Shock, Septic;protein:increased expression:serum
RGD PMID:18074478, PMID:21150875, PMID:12023385, PMID:12500222 RGD:5128661, RGD:7245548, RGD:7245535, RGD:7245534 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B IEP
ISO
associated with Acute Lung Injury
associated with Shock, Septic;protein:increased expression:serum
RGD PMID:18074478, PMID:12500222, PMID:12865254 RGD:5128661, RGD:7245534, RGD:7245532 NCBI chr 1:12,166,948...12,209,222
Ensembl chr 1:12,166,991...12,209,228
JBrowse link
G TP53 tumor protein p53 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20603111 NCBI chr17:7,668,402...7,687,550
Ensembl chr17:7,661,779...7,687,538
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TTR transthyretin EXP CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833
Ensembl chr18:31,557,009...31,598,833
JBrowse link
G UGT1A1 UDP glucuronosyltransferase family 1 member A1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:3864191 NCBI chr 2:233,760,270...233,773,300
Ensembl chr 2:233,760,270...233,773,300
Ensembl chr 2:233,760,270...233,773,300
JBrowse link
G UGT1A9 UDP glucuronosyltransferase family 1 member A9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20623750 NCBI chr 2:233,671,898...233,773,300
Ensembl chr 2:233,671,898...233,773,300
JBrowse link
G UOX urate oxidase (pseudogene) EXP CTD Direct Evidence: therapeutic CTD PMID:16313266 NCBI chr 1:84,364,958...84,384,801
Ensembl chr 1:84,363,706...84,397,831
JBrowse link
G UTS2R urotensin 2 receptor ISO RGD PMID:15146030 RGD:2306847 NCBI chr17:82,371,765...82,377,458
Ensembl chr17:82,371,400...82,375,586
Ensembl chr17:82,371,400...82,375,586
JBrowse link
G VEGFA vascular endothelial growth factor A EXP CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:20943766, PMID:22808199 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G WNT4 Wnt family member 4 ISO RGD PMID:12707392 RGD:727218 NCBI chr 1:22,117,308...22,143,981
Ensembl chr 1:22,117,313...22,143,969
JBrowse link
G XDH xanthine dehydrogenase treatment ISO associated with Reperfusion Injury RGD PMID:22571266, PMID:18539378, PMID:19628223 RGD:7247641, RGD:7247656, RGD:7247650 NCBI chr 2:31,334,320...31,414,777
Ensembl chr 2:31,334,321...31,414,742
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 1:65,147,342...65,232,145
Ensembl chr 1:65,147,549...65,232,145
JBrowse link
G BMP7 bone morphogenetic protein 7 ISO associated with Kidney Reperfusion Injury;protein:increased expression:kidney RGD PMID:16284088 RGD:1601494 NCBI chr20:57,168,753...57,266,641
Ensembl chr20:57,168,753...57,266,641
JBrowse link
G CCT7 chaperonin containing TCP1 subunit 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:31825490 NCBI chr 2:73,233,425...73,253,008
Ensembl chr 2:73,233,420...73,253,021
JBrowse link
G CIITA class II major histocompatibility complex transactivator ISO mRNA:increased expression:kidney RGD PMID:9422398 RGD:7242901 NCBI chr16:10,866,208...10,941,562
Ensembl chr16:10,866,222...10,943,021
JBrowse link
G FABP1 fatty acid binding protein 1 EXP CTD Direct Evidence: therapeutic CTD PMID:18368030 NCBI chr 2:88,122,982...88,128,062
Ensembl chr 2:88,122,982...88,128,062
JBrowse link
G GSR glutathione-disulfide reductase ISO protein:decreased activity:renal cortex: RGD PMID:17078987, PMID:12885594 RGD:7257555, RGD:7257573 NCBI chr 8:30,678,066...30,727,846
Ensembl chr 8:30,678,066...30,727,846
JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 IEP protein:increased expression:kidney tubule, urine: RGD PMID:12081583 RGD:7245970 NCBI chr 5:157,028,383...157,069,633
Ensembl chr 5:157,029,413...157,059,119
JBrowse link
G NOG noggin ISO associated with Kidney Reperfusion Injury RGD PMID:16284088 RGD:1601494 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: marker/mechanism CTD PMID:4358912, PMID:6254450 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:19834340 NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,756
JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: therapeutic CTD PMID:19917352 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G TEK TEK receptor tyrosine kinase ISO associated with Kidney Reperfusion Injury RGD PMID:16284088 RGD:1601494 NCBI chr 9:27,109,141...27,230,178
Ensembl chr 9:27,109,141...27,230,174
JBrowse link
acute pyelonephritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCR2 C-X-C motif chemokine receptor 2 susceptibility IAGP DNA:polymorphism:3' utr:1208C>T (human) RGD PMID:22325052 RGD:7207860 NCBI chr 2:218,125,294...218,137,253
Ensembl chr 2:218,125,289...218,137,251
JBrowse link
Acute Tubulointerstitial Nephritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOA1 apolipoprotein A1 IDA RGD PMID:22659101 RGD:7241207 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622
JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:22194975 RGD:7207900 NCBI chr 4:153,684,080...153,710,643
Ensembl chr 4:153,684,070...153,706,260
Ensembl chr 4:153,684,070...153,706,260
JBrowse link
G TLR4 toll like receptor 4 ISO RGD PMID:22194975 RGD:7207900 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
adenine phosphoribosyltransferase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APRT adenine phosphoribosyltransferase IAGP ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency ClinVar
OMIM
PMID:1353080, PMID:1673292, PMID:1985452, PMID:2135300, PMID:2227951, PMID:2502918, PMID:3343350, PMID:3554238, PMID:3680503, PMID:7685481, PMID:7915931, PMID:8882882, PMID:9298830, PMID:9521589, PMID:10393170, PMID:11243733, PMID:19435978, PMID:25741868, PMID:28492532 NCBI chr16:88,809,339...88,811,928
Ensembl chr16:88,809,339...88,811,937
JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase IAGP ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency ClinVar PMID:25741868, PMID:28492532 NCBI chr16:88,813,734...88,856,966
Ensembl chr16:88,813,734...88,856,970
JBrowse link
AIDS-Associated Nephropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGTR1 angiotensin II receptor type 1 ISO RGD PMID:2 RGD:1303381 NCBI chr 3:148,697,871...148,743,003
Ensembl chr 3:148,697,784...148,743,008
JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO RGD PMID:2 RGD:1303381 NCBI chr  X:116,170,744...116,174,974
Ensembl chr  X:116,170,744...116,174,974
JBrowse link
G EGF epidermal growth factor IEP RGD PMID:19357719 RGD:6906909 NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766
JBrowse link
G HP haptoglobin IEP protein:increased expression:urine RGD PMID:19279121 RGD:11041816 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO
IMP
RGD PMID:23678040, PMID:23678040 RGD:7245474, RGD:7245474 NCBI chr 1:11,106,535...11,273,497
Ensembl chr 1:11,106,535...11,262,551
JBrowse link
G MYH9 myosin heavy chain 9 IEP protein:decreased expression:glomerulus RGD PMID:22313957 RGD:6903274 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,277...36,388,067
Ensembl chr22:36,281,277...36,388,067
JBrowse link
G NOTCH4 notch receptor 4 IEP protein: increased expression: kidney RGD PMID:20706108 RGD:6480788 NCBI chr 6:32,194,843...32,224,067
Ensembl chr 6:32,194,843...32,224,067
JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin treatment ISO RGD PMID:19188342, PMID:17229913 RGD:38596324, RGD:38599164 NCBI chr19:35,862,915...35,869,287
Ensembl chr19:35,825,964...35,869,287
JBrowse link
Albuminuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme treatment IEP
EXP
ISO
associated with Diabetes Mellitus, Type 1;protein:increased activity:serum (human)
CTD Direct Evidence: marker/mechanism
associated with Diabetic Nephropathies
CTD PMID:23733546, PMID:1336356, PMID:16902320 RGD:7829770, RGD:12879427 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G ADM adrenomedullin IEP associated with Hypertension RGD PMID:19424162 RGD:2313311 NCBI chr11:10,305,073...10,307,397
Ensembl chr11:10,305,073...10,307,397
JBrowse link
G AGER advanced glycosylation end-product specific receptor treatment IEP
ISO
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 chr 6:32,180,969...32,184,380
Ensembl chr 6:32,180,968...32,184,322
JBrowse link
G AGT angiotensinogen IEA
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:12414515, PMID:18679781, PMID:21896938, PMID:15118671 RGD:1331525 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,702,523...230,714,122
JBrowse link
G AKR1B1 aldo-keto reductase family 1 member B IMP associated with Diabetes Mellitus, Experimental;human gene in a rat model RGD PMID:12166624 RGD:8548813 NCBI chr 7:134,442,350...134,459,239
Ensembl chr 7:134,442,356...134,459,284
JBrowse link
G ALB albumin IEP
ISO
associated with Diabetes Mellitus, Insulin-Dependent
associated with hypertension
RGD PMID:19414946, PMID:15102963 RGD:2306884, RGD:1601157 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
G ALOX12 arachidonate 12-lipoxygenase, 12S type IAGP associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphism:cds:p.R261Q (human) RGD PMID:18640486 RGD:2313875 NCBI chr17:6,993,791...7,010,754
Ensembl chr17:6,996,049...7,010,754
JBrowse link
G B2M beta-2-microglobulin IEP associated with HIV infections;protein:increased expression:urine RGD PMID:18469311 RGD:6482713 NCBI chr15:44,711,492...44,718,145
Ensembl chr15:44,711,487...44,718,877
JBrowse link
G CASP1 caspase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr11:105,025,443...105,035,591
Ensembl chr11:105,025,443...105,035,250
JBrowse link
G CASR calcium sensing receptor ISO associated with Uremia RGD PMID:19188910 RGD:7205661 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,683...122,291,629
Ensembl chr 3:122,183,683...122,291,629
JBrowse link
G CCL4 C-C motif chemokine ligand 4 IEP associated with Diabetes Mellitus, Type 2;protein:increased expression:urine RGD PMID:21113841 RGD:5683918 NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621
JBrowse link
G CD38 CD38 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:21992601 NCBI chr 4:15,778,328...15,853,232
Ensembl chr 4:15,778,275...15,853,232
JBrowse link
G CIITA class II major histocompatibility complex transactivator IAGP DNA:polymorphism:promoter:-168A>G, in non-diabetic subjects RGD PMID:17183695 RGD:5491201 NCBI chr16:10,866,208...10,941,562
Ensembl chr16:10,866,222...10,943,021
JBrowse link
G CP ceruloplasmin EXP CTD Direct Evidence: marker/mechanism CTD PMID:21752484 NCBI chr 3:149,162,410...149,222,008
Ensembl chr 3:149,162,410...149,221,829
JBrowse link
G CRP C-reactive protein severity IEP associated with Anemia, Sickle Cell; protein:increased expression:serum
associated with hypertension
RGD PMID:20710104, PMID:20016210 RGD:6907441, RGD:6909147 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G CSF1 colony stimulating factor 1 treatment ISO associated with Hypercholesterolemia and Diabetes Mellitus, Experimental RGD PMID:8573750 RGD:7257591 NCBI chr 1:109,910,506...109,930,992
Ensembl chr 1:109,910,242...109,930,992
JBrowse link
G CST3 cystatin C IEP associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human) RGD PMID:19596469 RGD:2314309 NCBI chr20:23,626,706...23,637,955
Ensembl chr20:23,626,706...23,638,473
JBrowse link
G CTSB cathepsin B ISO associated with Hypertension RGD PMID:19023196 RGD:2315726 NCBI chr 8:11,842,524...11,868,087
Ensembl chr 8:11,842,524...11,869,448
JBrowse link
G CTSL cathepsin L ISO associated with Hypertension RGD PMID:19023196 RGD:2315726 NCBI chr 9:87,726,119...87,731,469
Ensembl chr 9:87,726,109...87,731,469
JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 ISO RGD PMID:15939810 RGD:2307307 NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,354...142,879,846
Ensembl chr 8:142,872,354...142,879,846
JBrowse link
G CYP11B2 cytochrome P450 family 11 subfamily B member 2 ISO RGD PMID:15939810 RGD:2307307 NCBI chr 8:142,910,559...142,917,843
Ensembl chr 8:142,910,559...142,917,843
JBrowse link
G DRD1 dopamine receptor D1 IAGP DNA:polymorphism:5' utr:g.-94G>A rs5326 (human) RGD PMID:17353515 RGD:7248452 NCBI chr 5:175,440,036...175,444,182
Ensembl chr 5:175,440,036...175,444,182
JBrowse link
G EDN1 endothelin 1 ISO protein:increased expression:renal papilla (rat) RGD PMID:20666571 RGD:4144838 NCBI chr 6:12,256,463...12,297,194
Ensembl chr 6:12,290,361...12,297,194
JBrowse link
G EPO erythropoietin IEP associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:urine,serum RGD PMID:16921186 RGD:2313841 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
JBrowse link
G F7 coagulation factor VII no_association
severity
IEP associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human)
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human)
RGD PMID:8458188, PMID:8250495, PMID:9187410 RGD:2312410, RGD:2312407, RGD:2312406 NCBI chr13:113,105,773...113,120,685
Ensembl chr13:113,105,788...113,120,681
Ensembl chr13:113,105,788...113,120,681
JBrowse link
G FBN1 fibrillin 1 ISO associated with Hypertension RGD PMID:16380460 RGD:7365080 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,306...48,645,849
Ensembl chr15:48,408,306...48,645,849
JBrowse link
G GGT1 gamma-glutamyltransferase 1 IEP associated with Diabetes Mellitus; protein:increased activity:serum RGD PMID:15890893 RGD:2315606 NCBI chr22:24,583,750...24,628,996
Ensembl chr22:24,556,007...24,628,987
Ensembl chr22:24,556,007...24,628,987
Ensembl chr22:24,556,007...24,628,987
JBrowse link
G GNAQ G protein subunit alpha q EXP CTD Direct Evidence: marker/mechanism CTD PMID:16267159 NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811
JBrowse link
G GPC5 glypican 5 EXP CTD Direct Evidence: therapeutic CTD PMID:21441931 NCBI chr13:91,398,621...92,867,237
Ensembl chr13:91,398,621...92,873,682
JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 IEP associated with Anemia, Sickle Cell;protein:increased expression:urine: RGD PMID:21630304 RGD:7245982 NCBI chr 5:157,028,383...157,069,633
Ensembl chr 5:157,029,413...157,059,119
JBrowse link
G IGF1 insulin like growth factor 1 susceptibility IAGP RGD PMID:16645019 RGD:1598420 NCBI chr12:102,395,860...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G IL1B interleukin 1 beta ISO RGD PMID:23103566 RGD:7175089 NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17167242 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G INS insulin EXP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:9861226, PMID:29420703 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,341
Ensembl chr11:2,159,779...2,161,341
JBrowse link
G LEPR leptin receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:17065336, PMID:20175764, PMID:23159718, PMID:28130181, PMID:29988851 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
JBrowse link
G LIPC lipase C, hepatic type IEP associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma (human) RGD PMID:8666151 RGD:2308836 NCBI chr15:58,410,457...58,569,844
Ensembl chr15:58,410,569...58,569,844
JBrowse link
G LRP2 LDL receptor related protein 2 ISO RGD PMID:12121845 RGD:1641839 NCBI chr 2:169,127,109...169,362,597
Ensembl chr 2:169,127,109...169,362,534
JBrowse link
G MIR130A microRNA 130a EXP CTD Direct Evidence: marker/mechanism CTD PMID:24223694 NCBI chr11:57,641,198...57,641,286
Ensembl chr11:57,641,198...57,641,286
JBrowse link
G MIR145 microRNA 145 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24223694 NCBI chr 5:149,430,646...149,430,733
Ensembl chr 5:149,430,646...149,430,733
JBrowse link
G MIR155 microRNA 155 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24223694 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
JBrowse link
G MIR424 microRNA 424 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24223694 NCBI chr  X:134,546,614...134,546,711
Ensembl chr  X:134,546,614...134,546,711
JBrowse link
G MMP9 matrix metallopeptidase 9 onset IEP associated with Diabetes Mellitus, Type 2; protein:increased expression:plasma (human) RGD PMID:9774113 RGD:7207214 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP associated with Diabetes Mellitus, Type 2; DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) RGD PMID:22554825 RGD:6893631 NCBI chr 1:11,785,723...11,806,103
Ensembl chr 1:11,785,723...11,806,455
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G MYH9 myosin heavy chain 9 IAGP associated with hypertension;DNA:SNPs: : RGD PMID:19153477 RGD:6903241 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,277...36,388,067
Ensembl chr22:36,281,277...36,388,067
JBrowse link
G NCK1 NCK adaptor protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr 3:136,862,208...136,951,606
Ensembl chr 3:136,862,208...136,951,606
JBrowse link
G NCK2 NCK adaptor protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr 2:105,744,649...105,894,274
Ensembl chr 2:105,744,912...105,894,274
JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin EXP CTD Direct Evidence: marker/mechanism CTD PMID:15684566 NCBI chr19:35,825,372...35,852,504
Ensembl chr19:35,825,964...35,869,287
JBrowse link
G NPHS2 NPHS2 stomatin family member, podocin EXP CTD Direct Evidence: marker/mechanism CTD PMID:15684566 NCBI chr 1:179,550,539...179,575,987
Ensembl chr 1:179,550,539...179,575,952
JBrowse link
G PDPN podoplanin ISO RGD PMID:18199599 RGD:2292240 NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957
JBrowse link
G PON1 paraoxonase 1 IAGP DNA:polymorphisms:promoter, cds (human) RGD PMID:16949520 RGD:2313272 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha IAGP associated with Diabetes Mellitus, Type 2; DNA:snp:cds:g.75919G>A rs8192678 (human) RGD PMID:22684233 RGD:7242025 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17890881 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,423
JBrowse link
G PTH parathyroid hormone IEP associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human) RGD PMID:23066118 RGD:7242730 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
JBrowse link
G PYCARD PYD and CARD domain containing EXP CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr16:31,201,486...31,202,760
Ensembl chr16:31,201,486...31,203,450
JBrowse link
G RAB38 RAB38, member RAS oncogene family ISO RGD PMID:15758045 RGD:1357409 NCBI chr11:87,809,490...88,175,504
Ensembl chr11:88,113,251...88,175,443
JBrowse link
G REN renin EXP CTD Direct Evidence: marker/mechanism CTD PMID:12414515, PMID:18679781 NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324
JBrowse link
G RETN resistin IEP associated with Hypertension;protein:increased expression:blood RGD PMID:20203628 RGD:7207150 NCBI chr19:7,669,049...7,670,455
Ensembl chr19:7,669,049...7,670,455
JBrowse link
G SERPINE1 serpin family E member 1 IEP associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human) RGD PMID:9201602 RGD:8547710 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G SERPINF1 serpin family F member 1 treatment IMP associated with Diabetes Mellitus, Experimental; human gene in a rat model RGD PMID:16731830 RGD:8554875 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
JBrowse link
G SH2B3 SH2B adaptor protein 3 ISO RGD PMID:25776069 RGD:13442483 NCBI chr12:111,405,107...111,451,623
Ensembl chr12:111,405,923...111,451,623
Ensembl chr12:111,405,923...111,451,623
JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17942768 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:18443355 RGD:6903862 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,650...87,983,426
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:17167242 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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 4:121,874,481...121,952,060
Ensembl chr 4:121,874,481...121,952,060
JBrowse link
G TRPC5 transient receptor potential cation channel subfamily C member 5 ISO RGD PMID:24231357 RGD:10043830 NCBI chr  X:111,768,011...112,082,943
Ensembl chr  X:111,774,315...112,082,776
JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 ISO associated with Hypertension;mRNA:decreased expression:kidney cortex RGD PMID:21839714, PMID:19887786 RGD:7247445, RGD:7247603 NCBI chr11:101,451,470...101,584,007
Ensembl chr11:101,451,564...101,872,562
JBrowse link
G TSLP thymic stromal lymphopoietin EXP CTD Direct Evidence: marker/mechanism CTD PMID:17686814 NCBI chr 5:111,070,062...111,078,026
Ensembl chr 5:111,070,062...111,078,026
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 IEP associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma RGD PMID:18299691 RGD:2312766 NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
JBrowse link
Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A3 collagen type IV alpha 3 chain susceptibility IAGP
EXP
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 2:227,164,589...227,314,792
Ensembl chr 2:227,164,624...227,314,792
Ensembl chr 2:227,164,624...227,314,792
JBrowse link
G COL4A4 collagen type IV alpha 4 chain IAGP 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 2:226,970,293...227,164,482
Ensembl chr 2:227,002,714...227,164,453
Ensembl chr 2:227,002,714...227,164,453
JBrowse link
G COL4A5 collagen type IV alpha 5 chain IAGP 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:108,439,838...108,697,545
Ensembl chr  X:108,439,844...108,697,545
Ensembl chr  X:108,439,844...108,697,545
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP DNA:polymorphism: :HLA-DRB1*16(human) RGD PMID:15182324 RGD:7365078 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,578,769...32,589,848
JBrowse link
G IL1B interleukin 1 beta ISO RGD PMID:22937108 RGD:7175090 NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G MFF-DT MFF divergent transcript IAGP ClinVar Annotator: match by term: Alport syndrome ClinVar PMID:11134255, PMID:12028435, 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 NCBI chr 2:227,221,052...227,325,164
Ensembl chr 2:227,221,052...227,325,711
JBrowse link
G MMP12 matrix metallopeptidase 12 ISO RGD PMID:16816359 RGD:7241212 NCBI chr11:102,862,736...102,874,982
Ensembl chr11:102,862,736...102,874,982
JBrowse link
G MMP3 matrix metallopeptidase 3 IEP protein:increased expression:kidney RGD PMID:16509766 RGD:7241252 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609
JBrowse link
G MYH9 myosin heavy chain 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10973259 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,277...36,388,067
Ensembl chr22:36,281,277...36,388,067
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 IAGP ClinVar Annotator: match by term: Enamel-renal syndrome
ClinVar Annotator: match by term: Amelogenesis imperfecta and gingival fibromatosis syndrome
ClinVar
OMIM
PMID:18597613, PMID:21549343, PMID:21990045, PMID:23434854, PMID:23468644, PMID:24196488, PMID:25741868 NCBI chr17:68,530,276...68,601,367
Ensembl chr17:68,535,113...68,601,367
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta and gingival fibromatosis syndrome
ClinVar Annotator: match by term: Enamel-renal syndrome
ClinVar PMID:21990045, PMID:23434854, PMID:23468644, PMID:24196488, PMID:25741868 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
AMME complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A6 collagen type IV alpha 6 chain IAGP OMIM NCBI chr  X:108,155,607...108,439,493
Ensembl chr  X:108,155,607...108,439,497
JBrowse link
anti-basement membrane glomerulonephritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGT angiotensinogen ISO protein:increased expression:kidney, urine
mRNA, protein:increased expression:liver, plasma
RGD PMID:21282555, PMID:7550093 RGD:5129185, RGD:11039051 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,702,523...230,714,122
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO protein:increased expression:kidney RGD PMID:21282555 RGD:5129185 NCBI chr 3:148,697,871...148,743,003
Ensembl chr 3:148,697,784...148,743,008
JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO mRNA, protein:increased expression:kidney RGD PMID:12234300 RGD:1579984 NCBI chr19:48,954,825...48,961,798
Ensembl chr19:48,954,815...48,961,798
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO mRNA, protein:decreased expression:kidney RGD PMID:12234300 RGD:1579984 NCBI chr18:63,123,346...63,320,280
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G CCL17 C-C motif chemokine ligand 17 ISO mRNA:increased expression:glomerulus RGD PMID:20071465 RGD:4145614 NCBI chr16:57,396,076...57,416,063
Ensembl chr16:57,404,767...57,416,063
JBrowse link
G CCL2 C-C motif chemokine ligand 2 treatment ISO mRNA:increased expression:glomerulus RGD PMID:21894146, PMID:20071465, PMID:17898087 RGD:6218988, RGD:4145614, RGD:2307059 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,218...34,257,203
JBrowse link
G CCL22 C-C motif chemokine ligand 22 ISO mRNA, protein:increased expression:glomerulus RGD PMID:12651599 RGD:2306306 NCBI chr16:57,358,783...57,366,189
Ensembl chr16:57,358,783...57,366,189
JBrowse link
G CCL4 C-C motif chemokine ligand 4 ISO mRNA:increased expression:glomerulus RGD PMID:17898087 RGD:2307059 NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:glomerulus RGD PMID:17898087 RGD:2307059 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
JBrowse link
G CD274 CD274 molecule treatment ISO RGD PMID:21965585 RGD:7248671 NCBI chr 9:5,450,542...5,470,554
Ensembl chr 9:5,450,503...5,470,566
JBrowse link
G CD40 CD40 molecule ISO RGD PMID:15210767 RGD:7248442 NCBI chr20:46,118,242...46,129,858
Ensembl chr20:46,118,278...46,129,863
JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:15458437 RGD:5508170 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G CD80 CD80 molecule ISO RGD PMID:10712436 RGD:6902936 NCBI chr 3:119,524,293...119,559,614
Ensembl chr 3:119,524,293...119,559,614
JBrowse link
G CFB complement factor B ISO RGD PMID:22492944 RGD:7242700 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,084
JBrowse link
G CLU clusterin ISO protein:increased expression:urine RGD PMID:23791361 RGD:9068422 NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
JBrowse link
G CSF1 colony stimulating factor 1 treatment ISO RGD PMID:19242505 RGD:7257569 NCBI chr 1:109,910,506...109,930,992
Ensembl chr 1:109,910,242...109,930,992
JBrowse link
G CSF1R colony stimulating factor 1 receptor treatment ISO RGD PMID:19242505 RGD:7257569 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 treatment IMP
IDA
ISO
RGD PMID:10712436, PMID:8206086, PMID:10712436 RGD:6902936, RGD:11352257, RGD:6902936 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,867,771...203,873,965
JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO mRNA, protein:increased expression:glomerulus RGD PMID:19590241 RGD:4891946 NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044
JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO mRNA, protein:increased expression:glomerulus RGD PMID:19590241 RGD:4891946 NCBI chr 3:39,263,494...39,281,735
Ensembl chr 3:39,263,494...39,281,735
Ensembl chr 3:39,263,494...39,281,735
JBrowse link
G CXCL12 C-X-C motif chemokine ligand 12 ISO mRNA:increased expression:glomerulus RGD PMID:17557270 RGD:2306579 NCBI chr10:44,292,088...44,385,097
Ensembl chr10:44,370,165...44,386,493
JBrowse link
G DUSP1 dual specificity phosphatase 1 ISO mRNA:increased expression:glomerulus RGD PMID:8587253 RGD:633769 NCBI chr 5:172,768,096...172,771,195
Ensembl chr 5:172,768,096...172,771,195
JBrowse link
G FCGR3A Fc fragment of IgG receptor IIIa no_association IAGP DNA:cnv: :
DNA:polymorphism:exon:(rs396991)(human)
RGD PMID:19946017, PMID:19640933 RGD:5508400, RGD:5508403 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,737
JBrowse link
G GP6 glycoprotein VI platelet ISO RGD PMID:20651232 RGD:7242710 NCBI chr19:55,013,705...55,038,264
Ensembl chr19:55,013,705...55,038,264
JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 IAGP RGD PMID:21569485 RGD:5147561 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,990...33,089,696
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP DNA:polymorphism (human) RGD PMID:21569485 RGD:5147561 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,578,769...32,589,848
JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:23826305 RGD:7365004 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL17A interleukin 17A treatment ISO RGD PMID:23826305 RGD:7365004 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G IL18 interleukin 18 ISO RGD PMID:22046355 RGD:6893447 NCBI chr11:112,143,251...112,164,104
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G IL1B interleukin 1 beta ISO mRNA:increased expression:kidney (mouse)
mRNA, protein:increased expression:kidney
RGD PMID:22046355, PMID:9198037 RGD:6893447, RGD:7401232 NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO RGD PMID:20071465 RGD:4145614 NCBI chr 2:113,099,365...113,134,016
Ensembl chr 2:113,107,214...113,134,016
JBrowse link
G IL4 interleukin 4 ISO RGD PMID:9350645, PMID:17898087 RGD:2317673, RGD:2307059 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G ITGA4 integrin subunit alpha 4 treatment ISO RGD PMID:9032136, PMID:7679412 RGD:2308810, RGD:9698425 NCBI chr 2:181,457,205...181,538,940
Ensembl chr 2:181,457,202...181,538,940
JBrowse link
G MAPK14 mitogen-activated protein kinase 14 ISO RGD PMID:21894146 RGD:6218988 NCBI chr 6:36,027,711...36,122,964
Ensembl chr 6:36,027,677...36,111,236
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 ISO RGD PMID:21894146 RGD:6218988 NCBI chr10:48,306,673...48,439,360
Ensembl chr10:48,306,639...48,439,360
JBrowse link
G MIF macrophage migration inhibitory factor ISO RGD PMID:10780884 RGD:1642011 NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
JBrowse link
G MMP12 matrix metallopeptidase 12 ISO RGD PMID:21894146 RGD:6218988 NCBI chr11:102,862,736...102,874,982
Ensembl chr11:102,862,736...102,874,982
JBrowse link
G MMP14 matrix metallopeptidase 14 ISO mRNA:increased expression:kidney, macrophage RGD PMID:10878552 RGD:2314954 NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,027
JBrowse link
G NOS2 nitric oxide synthase 2 ISO RGD PMID:21894146 RGD:6218988 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G NPPB natriuretic peptide B ISO RGD PMID:11729234 RGD:7248605 NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945
JBrowse link
G PDCD1 programmed cell death 1 treatment ISO RGD PMID:21965585 RGD:7248671 NCBI chr 2:241,849,881...241,858,908
Ensembl chr 2:241,849,884...241,858,894
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO RGD PMID:17888025 RGD:5563035 NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,756
JBrowse link
G PTK2B protein tyrosine kinase 2 beta ISO protein:increased expression:glomerulus RGD PMID:11774117 RGD:729912 NCBI chr 8:27,311,478...27,459,391
Ensembl chr 8:27,311,482...27,459,391
JBrowse link
G RAPGEF1 Rap guanine nucleotide exchange factor 1 ISO protein:increased expression:renal glomerulus RGD PMID:18784646 RGD:11534983 NCBI chr 9:131,576,770...131,740,076
Ensembl chr 9:131,576,770...131,740,074
JBrowse link
G SELP selectin P ISO RGD PMID:21894146 RGD:6218988 NCBI chr 1:169,588,849...169,630,125
Ensembl chr 1:169,588,849...169,630,193
JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO protein:decreased expression:kidney, brush border membrane (mouse) RGD PMID:19193726 RGD:7242947 NCBI chr 5:177,384,434...177,412,021
Ensembl chr 5:177,379,235...177,398,848
JBrowse link
G SLIT2 slit guidance ligand 2 ISO mRNA:decreased expression:kidney, glomerulus RGD PMID:15215188 RGD:2316132 NCBI chr 4:20,251,905...20,620,561
Ensembl chr 4:20,251,905...20,620,561
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:20504883 RGD:6903276 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,650...87,983,426
JBrowse link
G SYK spleen associated tyrosine kinase ISO RGD PMID:21894146 RGD:6218988 NCBI chr 9:90,801,600...90,898,549
Ensembl chr 9:90,801,787...90,898,549
JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:21894146 RGD:6218988 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO protein:increased expression:urine, serum: RGD PMID:23460853 RGD:7241232 NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
JBrowse link
G XCL1 X-C motif chemokine ligand 1 ISO mRNA:increased expression:glomerulus RGD PMID:9717977 RGD:8693304 NCBI chr 1:168,574,128...168,582,069
Ensembl chr 1:168,576,605...168,582,069
JBrowse link
anuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGT angiotensinogen EXP CTD Direct Evidence: therapeutic CTD PMID:8527259 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,702,523...230,714,122
JBrowse link
G ALB albumin EXP CTD Direct Evidence: marker/mechanism CTD PMID:6734075 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
G PLAU plasminogen activator, urokinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:8225663 NCBI chr10:73,909,182...73,917,497
Ensembl chr10:73,909,177...73,917,496
JBrowse link
G PRKAB1 protein kinase AMP-activated non-catalytic subunit beta 1 treatment ISO RGD PMID:27782167 RGD:39128183 NCBI chr12:119,667,864...119,681,624
Ensembl chr12:119,667,864...119,681,624
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20190753 NCBI chr14:77,426,675...77,457,727
Ensembl chr14:77,426,675...77,457,952
JBrowse link
G VPS33B VPS33B late endosome and lysosome associated IAGP
EXP
ClinVar Annotator: match by term: Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 NCBI chr15:90,998,416...91,022,839
Ensembl chr15:90,998,416...91,022,603
Ensembl chr15:90,998,416...91,022,603
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 IAGP ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 ClinVar PMID:25741868, PMID:31319225 NCBI chr14:77,426,675...77,457,727
Ensembl chr14:77,426,675...77,457,952
JBrowse link
G VPS33B VPS33B late endosome and lysosome associated IAGP 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 chr15:90,998,416...91,022,839
Ensembl chr15:90,998,416...91,022,603
Ensembl chr15:90,998,416...91,022,603
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 IAGP ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 2 ClinVar
OMIM
PMID:20190753, PMID:25741868, PMID:28492532 NCBI chr14:77,426,675...77,457,727
Ensembl chr14:77,426,675...77,457,952
JBrowse link
atypical hemolytic-uremic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 IEP protein:decreased activity:serum (human) RGD PMID:12640381 RGD:10449096 NCBI chr 9:133,414,337...133,459,403
Ensembl chr 9:133,414,358...133,459,402
JBrowse link
G BAAT bile acid-CoA:amino acid N-acyltransferase IAGP ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 ClinVar NCBI chr 9:101,360,417...101,385,006
Ensembl chr 9:101,354,182...101,385,400
Ensembl chr 9:101,354,182...101,385,400
JBrowse link
G C2 complement C2 IAGP 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 chr 6:31,897,783...31,945,672
Ensembl chr 6:31,897,785...31,945,672
JBrowse link
G C3 complement C3 susceptibility ISO
IAGP
EXP
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
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 chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G C3AR1 complement C3a receptor 1 IAGP ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 ClinVar NCBI chr12:8,056,844...8,066,359
Ensembl chr12:8,056,844...8,066,359
JBrowse link
G CD46 CD46 molecule severity
susceptibility
IAGP
EXP
IEP
DNA:mutations:cds:multiple (human)
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)
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:20595690, PMID:16353080, PMID:20513133, PMID:17914026 RGD:11038684, RGD:11352810, RGD:11040768, RGD:11352768 NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,057...207,795,513
Ensembl chr 1:207,752,057...207,795,513
JBrowse link
G CFB complement factor B susceptibility IAGP
EXP
DNA, protein:mutations:cds: c.858C>G, F286L, c.967A>G, K323E (human)
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
DNA:nonsense mutations: :multiple
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 chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,084
JBrowse link
G CFH complement factor H susceptibility IAGP
EXP
IEP
IDA
ISO
IMP
DNA:missense mutation
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations, missense mutations, splice-site mutation: :multiple
DNA:deletion:Cds:
DNA:SNPs,Haplotype::
ClinVar
OMIM
CTD
PMID:646435, PMID:8072530, PMID:9551389, PMID:9811382, PMID:9848786, PMID:10577907, PMID:10762557, PMID:11158219, PMID:11170895, PMID:11170896, PMID:11978762, PMID:12424708, PMID:12697737, PMID:14978182, PMID:15761120, PMID:15870199, PMID:16299065, PMID:16619239, PMID:17018561, PMID:17947292, PMID:18252712, PMID:18268093, PMID:18557729, PMID:19190809, PMID:19259132, PMID:19297022, PMID:21415311, PMID:21909106, PMID:22019782, PMID:22171659, PMID:22223606, PMID:22389686, PMID:22403278, PMID:22456601, PMID:23852337, PMID:24036949, PMID:24498017, PMID:25037630, PMID:25741868, PMID:25814826, PMID:25880396, PMID:26559391, PMID:28492532, PMID:10577907, PMID:9811382, PMID:23243267, PMID:20513133, PMID:17517971, PMID:17517971, PMID:17517971 RGD:1599886, RGD:11041172, RGD:11041162, RGD:11040768, RGD:7364995, RGD:7364995, RGD:7364995 NCBI chr 1:196,652,033...196,747,504
Ensembl chr 1:196,652,043...196,747,504
Ensembl chr 1:196,652,043...196,747,504
JBrowse link
G CFHR1 complement factor H related 1 susceptibility IAGP
EXP
DNA:deletion
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to
ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
CTD
OMIM
ClinVar
PMID:16998489, PMID:17367211, PMID:18006700, PMID:20843825, PMID:23243267 RGD:11041162 NCBI chr 1:196,819,731...196,832,189
Ensembl chr 1:196,819,757...196,832,189
JBrowse link
G CFHR3 complement factor H related 3 susceptibility IAGP
EXP
ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to
ClinVar
CTD
OMIM
PMID:16998489, PMID:17367211, PMID:18006700, PMID:20843825 NCBI chr 1:196,774,816...196,795,407
Ensembl chr 1:196,774,795...196,795,406
Ensembl chr 1:196,774,795...196,795,406
JBrowse link
G CFI complement factor I susceptibility IAGP
EXP
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
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 4:109,730,982...109,802,040
Ensembl chr 4:109,740,694...109,802,179
JBrowse link
G DGKE diacylglycerol kinase epsilon IAGP
EXP
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 chr17:56,834,131...56,869,567
Ensembl chr17:56,834,107...56,869,567
JBrowse link
G THBD thrombomodulin severity
susceptibility
no_association
IAGP
EXP
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
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:20595690, PMID:19625716, PMID:19625716 RGD:11038684, RGD:11038691, RGD:11038691 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
JBrowse link
atypical teratoid rhabdoid tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALK ALK receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Atypical teratoid rhabdoid tumor ClinVar PMID:25741868, PMID:28492532 NCBI chr 2:29,190,992...29,921,589
Ensembl chr 2:29,192,774...29,921,586
JBrowse link
G ATRX ATRX chromatin remodeler IAGP 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:77,504,880...77,786,235
Ensembl chr  X:77,504,880...77,786,233
Ensembl chr  X:77,504,880...77,786,233
JBrowse link
G DERL3 derlin 3 IAGP ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 ClinVar PMID:28492532 NCBI chr22:23,834,498...23,839,348
Ensembl chr22:23,834,503...23,839,128
JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP ClinVar Annotator: match by term: Malignant rhabdoid tumor, somatic
ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1
ClinVar Annotator: match by term: Teratoid tumor, atypical
ClinVar
OMIM
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 chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,008
Ensembl chr22:23,786,931...23,838,008
JBrowse link
G TP53 tumor protein p53 IAGP 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 chr17:7,668,402...7,687,550
Ensembl chr17:7,661,779...7,687,538
Ensembl chr17:7,661,779...7,687,538
JBrowse link
Autoimmune Interstitial Lung, Joint, and Kidney Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COPA COPI coat complex subunit alpha IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease ClinVar
OMIM
PMID:25741868, PMID:25894502, PMID:28492532, PMID:29137621 NCBI chr 1:160,288,594...160,343,250
Ensembl chr 1:160,288,594...160,343,273
JBrowse link
autosomal dominant Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A3 collagen type IV alpha 3 chain IAGP ClinVar Annotator: match by term: Alport syndrome, autosomal dominant
ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant
ClinVar Annotator: match by term: Renal failure and sensorineural hearing loss
ClinVar
OMIM
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 2:227,164,589...227,314,792
Ensembl chr 2:227,164,624...227,314,792
Ensembl chr 2:227,164,624...227,314,792
JBrowse link
G COL4A4 collagen type IV alpha 4 chain IAGP 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 2:226,970,293...227,164,482
Ensembl chr 2:227,002,714...227,164,453
Ensembl chr 2:227,002,714...227,164,453
JBrowse link
G MFF-DT MFF divergent transcript IAGP ClinVar Annotator: match by term: Alport syndrome, autosomal dominant
ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant
ClinVar Annotator: match by term: Renal failure and sensorineural hearing loss
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 2:227,221,052...227,325,164
Ensembl chr 2:227,221,052...227,325,711
JBrowse link
G MYH9 myosin heavy chain 9 IAGP DNA:missense mutation:exon:4270G>C,D1424H (human) RGD PMID:12500226 RGD:6902925 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,277...36,388,067
Ensembl chr22:36,281,277...36,388,067
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 IAGP
EXP
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 chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,683...122,291,629
Ensembl chr 3:122,183,683...122,291,629
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 IAGP DNA:missense mutations:exon:p.R176Q (527G>A), p.R179W (535C>T), p.R179Q (536G>A) (human)
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant
DNA:missense mutation:cds:526C>T,p.R176W (human)
ClinVar
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 chr12:4,368,227...4,379,712
Ensembl chr12:4,368,227...4,379,712
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) IAGP ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:88,090,264...88,231,626
Ensembl chr 4:88,090,150...88,231,628
JBrowse link
G AC009065.2 novel transcript, overlapping TSC2 IAGP ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:11058904, PMID:11558899, PMID:11691639, PMID:12007219, PMID:15772804, PMID:18640754, PMID:19686598, PMID:22185115, PMID:25741868, PMID:26467025 NCBI chr16:2,091,436...2,095,017
Ensembl chr16:2,091,436...2,095,433
JBrowse link
G ANGPT2 angiopoietin 2 ISO protein:increased expression:bile duct (rat) RGD PMID:16628643 RGD:2314213 NCBI chr 8:6,499,632...6,563,420
Ensembl chr 8:6,499,651...6,563,409
Ensembl chr 8:6,499,651...6,563,409
JBrowse link
G ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12089381 NCBI chr 9:98,732,009...98,796,555
Ensembl chr 9:98,731,329...98,796,965
JBrowse link
G BICC1 BicC family RNA binding protein 1 ISS MouseDO NCBI chr10:58,512,872...58,831,435
Ensembl chr10:58,512,872...58,831,435
JBrowse link
G BRD4 bromodomain containing 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25877301 NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545
JBrowse link
G BRICD5 BRICHOS domain containing 5 IAGP ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr16:2,209,253...2,211,068
Ensembl chr16:2,209,253...2,211,950
JBrowse link
G C9 complement C9 disease_progression IEP protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr 5:39,284,140...39,364,495
Ensembl chr 5:39,284,140...39,424,868
JBrowse link
G CASKIN1 CASK interacting protein 1 IAGP ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr16:2,177,180...2,196,605
Ensembl chr16:2,177,180...2,196,605
JBrowse link
G CD14 CD14 molecule disease_progression IEP protein:altered localization:kidney,urine RGD PMID:20555320 RGD:7204130 NCBI chr 5:140,631,732...140,633,701
Ensembl chr 5:140,631,728...140,633,701
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IEP protein:decreased expression:kidney RGD PMID:17714589 RGD:2289666 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,339
Ensembl chr 6:36,676,460...36,687,339
JBrowse link
G CFB complement factor B disease_progression IEP protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,084
JBrowse link
G DMP1 dentin matrix acidic phosphoprotein 1 IAGP ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:87,650,280...87,664,357
Ensembl chr 4:87,650,280...87,664,361
JBrowse link
G DNASE1L2 deoxyribonuclease 1 like 2 IAGP ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr16:2,236,444...2,238,711
Ensembl chr16:2,235,816...2,238,711
JBrowse link
G DSPP dentin sialophosphoprotein IAGP ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:87,608,529...87,616,873
Ensembl chr 4:87,608,529...87,616,873
JBrowse link
G E4F1 E4F transcription factor 1 IAGP ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr16:2,223,498...2,235,742
Ensembl chr16:2,223,580...2,235,742
JBrowse link
G EDN1 endothelin 1 IEP mRNA, protein:increased expression:kidney (human) RGD PMID:12629276 RGD:4144854 NCBI chr 6:12,256,463...12,297,194
Ensembl chr 6:12,290,361...12,297,194
JBrowse link
G FAM13A family with sequence similarity 13 member A IAGP ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:88,725,960...89,111,398
Ensembl chr 4:88,725,955...89,111,398
JBrowse link
G FAM13A-AS1 FAM13A antisense RNA 1 IAGP ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:88,709,789...88,730,103
Ensembl chr 4:88,709,298...88,730,103
JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit IEP protein: increased expression: kidney RGD PMID:16049073 RGD:7242198 NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,282,230
JBrowse link
G GANAB glucosidase II alpha subunit EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant
CTD
ClinVar
NCBI chr11:62,624,829...62,646,613
Ensembl chr11:62,624,826...62,646,726
JBrowse link
G GPBAR1 G protein-coupled bile acid receptor 1 IEP mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr 2:218,259,496...218,263,861
Ensembl chr 2:218,259,496...218,263,861
JBrowse link
G GPRIN3 GPRIN family member 3 IAGP ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:89,236,383...89,307,800
Ensembl chr 4:89,236,383...89,307,800
JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 ISO protein:increased expression:kidney: RGD PMID:12388382 RGD:7245969 NCBI chr 5:157,028,383...157,069,633
Ensembl chr 5:157,029,413...157,059,119
JBrowse link
G HERC3 HECT and RLD domain containing E3 ubiquitin protein ligase 3 IAGP ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:88,523,843...88,709,303
Ensembl chr 4:88,523,810...88,708,450
Ensembl chr 4:88,523,810...88,708,450
JBrowse link
G HERC5 HECT and RLD domain containing E3 ubiquitin protein ligase 5 IAGP ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:88,456,604...88,506,170
Ensembl chr 4:88,457,119...88,506,163
JBrowse link
G HERC6 HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 IAGP ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:88,378,485...88,443,097
Ensembl chr 4:88,378,739...88,443,111
Ensembl chr 4:88,378,739...88,443,111
JBrowse link
G HSD17B11 hydroxysteroid 17-beta dehydrogenase 11 IAGP ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:87,336,515...87,391,252
Ensembl chr 4:87,336,515...87,391,188
JBrowse link
G HSD17B13 hydroxysteroid 17-beta dehydrogenase 13 IAGP ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:87,303,794...87,322,882
Ensembl chr 4:87,303,789...87,322,886
JBrowse link
G IBSP integrin binding sialoprotein IAGP ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:87,799,554...87,812,435
Ensembl chr 4:87,799,554...87,812,435
JBrowse link
G IL1RN interleukin 1 receptor antagonist IEP protein:decreased expression:urine (human) RGD PMID:9090470 RGD:6909172 NCBI chr 2:113,099,365...113,134,016
Ensembl chr 2:113,107,214...113,134,016
JBrowse link
G ITGA8 integrin subunit alpha 8 IEP mRNA:increased expression:kidney RGD PMID:18277079 RGD:7257723 NCBI chr10:15,513,954...15,720,329
Ensembl chr10:15,513,954...15,719,922
JBrowse link
G KLHL8 kelch like family member 8 IAGP ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:87,160,103...87,220,618
Ensembl chr 4:87,160,103...87,240,314
JBrowse link
G LRP2 LDL receptor related protein 2 ISO RGD PMID:11841627 RGD:1641842 NCBI chr 2:169,127,109...169,362,597
Ensembl chr 2:169,127,109...169,362,534
JBrowse link
G LRP5 LDL receptor related protein 5 susceptibility IAGP DNA:missense mutation:cds:multiple mutations (human) RGD PMID:25920554 RGD:11553546 NCBI chr11:68,298,866...68,449,275
Ensembl chr11:68,312,591...68,449,275
JBrowse link
G MEPE matrix extracellular phosphoglycoprotein IAGP ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:87,821,398...87,846,817
Ensembl chr 4:87,821,411...87,846,817
JBrowse link
G MIR1225 microRNA 1225 IAGP ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr16:2,090,195...2,090,284
Ensembl chr16:2,090,195...2,090,284
JBrowse link
G MLST8 MTOR associated protein, LST8 homolog IAGP ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr16:2,204,628...2,209,453
Ensembl chr16:2,204,248...2,209,453
JBrowse link
G MMP1 matrix metallopeptidase 1 IEP protein:increased expression:serum (human) RGD PMID:10644865 RGD:7207194 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,919...102,798,160
JBrowse link
G MMP9 matrix metallopeptidase 9 IEP protein:increased expression:plasma (human) RGD PMID:10644865 RGD:7207194 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MTOR mechanistic target of rapamycin kinase IMP RGD PMID:23195001 RGD:7245504 NCBI chr 1:11,106,535...11,273,497
Ensembl chr 1:11,106,535...11,262,551
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO
EXP
mRNA:increased expression:kidney (mouse)
CTD Direct Evidence: marker/mechanism
CTD PMID:25877301, PMID:18356167 RGD:7207457 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G NAP1L5 nucleosome assembly protein 1 like 5 IAGP ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:88,695,913...88,697,829
Ensembl chr 4:88,695,913...88,697,829
JBrowse link
G NPHP3 nephrocystin 3 ISS MouseDO NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,414
JBrowse link
G NUDT9 nudix hydrolase 9 IAGP ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:87,420,002...87,459,455
Ensembl chr 4:87,422,573...87,459,455
JBrowse link
G PGP phosphoglycolate phosphatase IAGP ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr16:2,211,593...2,214,840
Ensembl chr16:2,211,593...2,214,840
JBrowse link
G PIGY phosphatidylinositol glycan anchor biosynthesis class Y IAGP ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,521,573...88,521,789
JBrowse link
G PITX2 paired like homeodomain 2 ISO mRNA:increased expression:kidney RGD PMID:20926632 RGD:5131995 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting severity IAGP
EXP
ISO
DNA:mutations:exons, intron:multiple
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.R3277C (mouse)
DNA:mutations:multiple
ClinVar
CTD
PMID:7581371, PMID:8004675, PMID:9521593, PMID:10200984, PMID:10364515, PMID:10854095, PMID:10987650, PMID:11058904, PMID:11115377, PMID:11216660, PMID:11558899, PMID:11571556, PMID:11691639, PMID:11840199, PMID:11857740, PMID:11967008, PMID:12007219, PMID:12070253, PMID:12089381, PMID:12482949, PMID:12842373, PMID:15772804, PMID:16430766, PMID:17574468, PMID:17582161, PMID:18077784, PMID:18640754, PMID:18837007, PMID:19165178, PMID:19401297, PMID:19686598, PMID:20558538, PMID:20981092, PMID:21115670, PMID:22008521, PMID:22090377, PMID:22185115, PMID:22333914, PMID:22383692, PMID:22508176, PMID:22608885, PMID:23064367, PMID:23300259, PMID:23431072, PMID:23760289, PMID:24033266, PMID:24374109, PMID:24694054, PMID:25333066, PMID:25646624, PMID:25741868, PMID:25877301, PMID:26139440, PMID:26453610, PMID:26467025, PMID:26632257, PMID:26661679, PMID:27499327, PMID:27567292, PMID:27884173, PMID:27894351, PMID:28887310, PMID:30333007, PMID:8554072, PMID:23064367, PMID:21115670 RGD:1601399, RGD:7175280, RGD:7175279 NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898
JBrowse link
G PKD2 polycystin 2, transient receptor potential cation channel onset IAGP
EXP
DNA:mutations:multiple
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:8650545, PMID:9573526, PMID:9856513, PMID:9856528, PMID:10411676, PMID:10497221, PMID:10541293, PMID:10760080, PMID:11007674, PMID:11095651, PMID:11967008, PMID:11968093, PMID:12089381, PMID:12707387, PMID:12842373, PMID:14993477, PMID:15001556, PMID:15192819, PMID:15772804, PMID:15775720, PMID:16223735, PMID:16430766, PMID:16540757, PMID:17100995, PMID:17429049, PMID:17574468, PMID:17582161, PMID:18257781, PMID:18664456, PMID:18837007, PMID:19491093, PMID:19556541, PMID:19936001, PMID:20168298, PMID:20881056, PMID:20950398, PMID:21551026, PMID:22008521, PMID:22034641, PMID:22185115, PMID:22383692, PMID:22508176, PMID:22863349, PMID:22995991, PMID:23300259, PMID:23376035, PMID:24374109, PMID:24611717, PMID:24658975, PMID:24719335, PMID:24925719, PMID:25333066, PMID:25574838, PMID:25741868, PMID:25877301, PMID:26275819, PMID:26364947, PMID:26467025, PMID:26632257, PMID:26692149, PMID:27401137, PMID:27499327, PMID:27567292, PMID:27782177, PMID:27884173, PMID:27894351, PMID:28356211, PMID:28492532, PMID:28887310, PMID:29529603, PMID:30333007, PMID:30820006, PMID:30883612, PMID:22863349, PMID:21115670 RGD:7175273, RGD:7175279 NCBI chr 4:88,007,635...88,077,779
Ensembl chr 4:88,007,635...88,077,777
JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin IAGP 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 6:51,614,685...52,087,625
Ensembl chr 6:51,615,299...52,087,613
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma EXP CTD Direct Evidence: marker/mechanism CTD PMID:20210794 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
JBrowse link
G PPM1K protein phosphatase, Mg2+/Mn2+ dependent 1K IAGP ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:88,257,617...88,284,670
Ensembl chr 4:88,257,620...88,284,769
JBrowse link
G PYURF PIGY upstream reading frame IAGP ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776
JBrowse link
G RAB26 RAB26, member RAS oncogene family IAGP ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr16:2,148,144...2,154,165
Ensembl chr16:2,140,803...2,154,165
JBrowse link
G RPS6KB1 ribosomal protein S6 kinase B1 ISO protein:increased expression, increased activity:kidney RGD PMID:16221708 RGD:1643017 NCBI chr17:59,893,121...59,950,574
Ensembl chr17:59,893,046...59,950,574
JBrowse link
G SERPING1 serpin family G member 1 disease_progression IEP protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr11:57,597,685...57,614,848
Ensembl chr11:57,597,387...57,614,848
Ensembl chr11:57,597,387...57,614,848
JBrowse link
G SLC34A1 solute carrier family 34 member 1 disease_progression ISO mRNA, protein:altered expression:renal cortex (rat) RGD PMID:11004225 RGD:7242933 NCBI chr 5:177,384,434...177,412,021
Ensembl chr 5:177,379,235...177,398,848
JBrowse link
G SNCA synuclein alpha IAGP ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:89,724,099...89,838,324
Ensembl chr 4:89,700,345...89,838,315
Ensembl chr 4:89,700,345...89,838,315
JBrowse link
G SPARCL1 SPARC like 1 IAGP ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:87,473,335...87,529,376
Ensembl chr 4:87,473,335...87,531,061
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO
IAGP
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868, PMID:20926632 RGD:5131995 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,650...87,983,426
JBrowse link
G STAT6 signal transducer and activator of transcription 6 IEP protein:increased expression:kidney, epithelial cell RGD PMID:16399078 RGD:7243978 NCBI chr12:57,095,408...57,111,413
Ensembl chr12:57,095,408...57,132,139
JBrowse link
G TIGD2 tigger transposable element derived 2 IAGP ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:89,111,169...89,114,901
Ensembl chr 4:89,111,500...89,114,899
JBrowse link
G TRAF7 TNF receptor associated factor 7 IAGP ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr16:2,155,778...2,178,129
Ensembl chr16:2,155,698...2,178,129
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 IAGP ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant
ClinVar Annotator: match by term: Pseudohypoaldosteronism type 1 autosomal dominant
ClinVar PMID:25741868, PMID:28492532 NCBI chr 2:224,470,150...224,585,363
Ensembl chr 2:224,470,150...224,585,397
JBrowse link
G KLHL3 kelch like family member 3 IAGP ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 5:137,617,500...137,736,089
Ensembl chr 5:137,617,500...137,736,089
JBrowse link
G NR3C2 nuclear receptor subfamily 3 group C member 2 IAGP ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1
ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant
ClinVar Annotator: match by term: Pseudohypoaldosteronism type 1 autosomal dominant
ClinVar
OMIM
PMID:9662404, PMID:11134129, PMID:11344206, PMID:12483305, PMID:12679457, PMID:12788847, PMID:14715854, PMID:15126534, PMID:16611713, PMID:16757525, PMID:16954160, PMID:19571553, PMID:20030467, PMID:24033266, PMID:25251996, PMID:25741868, PMID:27780983, PMID:28492532, PMID:30763456, PMID:9662404 RGD:1600930 NCBI chr 4:148,078,764...148,444,698
Ensembl chr 4:148,078,762...148,444,698
JBrowse link
G STX16 syntaxin 16 IAGP ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar NCBI chr20:58,651,283...58,679,526
Ensembl chr20:58,651,253...58,679,526
JBrowse link
G STX16-NPEPL1 STX16-NPEPL1 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar NCBI chr20:58,651,253...58,715,844
Ensembl chr20:58,651,434...58,715,410
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 IAGP ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant
ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION
ClinVar
OMIM
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 4:6,260,368...6,303,265
Ensembl chr 4:6,269,849...6,303,265
JBrowse link
autosomal recessive Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCR1 C-C motif chemokine receptor 1 ISO RGD PMID:15716328 RGD:5688157 NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
JBrowse link
G COL4A3 collagen type IV alpha 3 chain IAGP ClinVar Annotator: match by term: Alport syndrome, autosomal recessive
ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ClinVar
OMIM
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 2:227,164,589...227,314,792
Ensembl chr 2:227,164,624...227,314,792
Ensembl chr 2:227,164,624...227,314,792
JBrowse link
G COL4A4 collagen type IV alpha 4 chain IAGP ClinVar Annotator: match by term: Alport syndrome, autosomal recessive
ClinVar Annotator: match by term: Alport syndrome type 2
ClinVar
OMIM
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 2:226,970,293...227,164,482
Ensembl chr 2:227,002,714...227,164,453
Ensembl chr 2:227,002,714...227,164,453
JBrowse link
G MFF-DT MFF divergent transcript IAGP ClinVar Annotator: match by term: Alport syndrome, autosomal recessive
ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ClinVar PMID:1400291, PMID:7780062, PMID:7987301, PMID:7987396, PMID:8956999, PMID:9195222, PMID:9269635, 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: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: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 2:227,221,052...227,325,164
Ensembl chr 2:227,221,052...227,325,711
JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 ISS OMIM:203780 MouseDO NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680
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 IAGP ClinVar Annotator: match by term: Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities ClinVar
OMIM
PMID:19836010, PMID:22829427, PMID:23440719, PMID:24033266, PMID:25741868, PMID:28492532, PMID:31115174 NCBI chr19:40,593,166...40,629,820
Ensembl chr19:40,592,883...40,629,818
JBrowse link
autosomal recessive hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMP1 dentin matrix acidic phosphoprotein 1 IAGP
ISS
IEA
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
OMIM:241520 | OMIM:613312
ClinVar
MouseDO
NCBI chr 4:87,650,280...87,664,357
Ensembl chr 4:87,650,280...87,664,361
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP
IEA
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
OMIM:241520 | OMIM:613312
ClinVar
MouseDO
PMID:24033266, PMID:28492532 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
autosomal recessive osteopetrosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CA2 carbonic anhydrase 2 IAGP ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis ClinVar
OMIM
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 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493
JBrowse link
G CA3-AS1 CA3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis ClinVar PMID:25741868 NCBI chr 8:85,441,806...85,464,915
Ensembl chr 8:85,440,596...85,464,915
JBrowse link
autosomal recessive polycystic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC009065.2 novel transcript, overlapping TSC2 IAGP ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease ClinVar PMID:25741868 NCBI chr16:2,091,436...2,095,017
Ensembl chr16:2,091,436...2,095,433
JBrowse link
G ACE angiotensin I converting enzyme ISO mRNA:increased expression:kidney (rat) RGD PMID:20229187, PMID:20798958 RGD:2325220, RGD:12879406 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO protein:increased serine phosphorylation:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
JBrowse link
G AQP1 aquaporin 1 (Colton blood group) ISO
EXP
mRNA, protein:increased expression, altered location:bile duct, epithelial cell
CTD Direct Evidence: marker/mechanism
CTD PMID:18988797, PMID:18988797 RGD:2307071 NCBI chr 7:30,911,853...30,925,516
Ensembl chr 7:30,911,853...30,925,517
Ensembl chr 7:30,911,853...30,925,517
JBrowse link
G ARL3 ADP ribosylation factor like GTPase 3 ISS OMIM:263200 MouseDO NCBI chr10:102,673,731...102,714,397
Ensembl chr10:102,673,731...102,714,397
JBrowse link
G BICC1 BicC family RNA binding protein 1 ISS OMIM:263200 MouseDO NCBI chr10:58,512,872...58,831,435
Ensembl chr10:58,512,872...58,831,435
JBrowse link
G C3 complement C3 ISO
IEP
mRNA, protein:increased expression, increased activity:kidney RGD PMID:17960140, PMID:17960140 RGD:7175542, RGD:7175542 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G CD14 CD14 molecule severity ISO
IEP
RGD PMID:20555320, PMID:20555320 RGD:7204130, RGD:7204130 NCBI chr 5:140,631,732...140,633,701
Ensembl chr 5:140,631,728...140,633,701
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 3:48,157,146...48,188,417
Ensembl chr 3:48,157,146...48,188,417
JBrowse link
G CFTR CF transmembrane conductance regulator ISO
EXP
mRNA, protein:increased expression:bile duct epithelium
CTD Direct Evidence: marker/mechanism
CTD PMID:18988797, PMID:18988797 RGD:2307071 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
Ensembl chr 7:117,287,120...117,715,971
JBrowse link
G CYP4A22 cytochrome P450 family 4 subfamily A member 22 ISO mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 1:47,137,441...47,149,738
Ensembl chr 1:47,137,435...47,149,735
JBrowse link
G CYS1 cystin 1 ISO
ISS
OMIM:263200 MouseDO PMID:11854326 RGD:7175541 NCBI chr 2:10,056,799...10,080,411
Ensembl chr 2:10,056,780...10,080,944
JBrowse link
G DZIP1L DAZ interacting zinc finger protein 1 like EXP CTD Direct Evidence: marker/mechanism CTD PMID:28530676 NCBI chr 3:138,061,990...138,115,862
Ensembl chr 3:138,061,990...138,115,818
JBrowse link
G EGFR epidermal growth factor receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:9486961 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G ELN elastin ISO RGD PMID:21478483 RGD:7207865 NCBI chr 7:74,027,772...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G GPBAR1 G protein-coupled bile acid receptor 1 IEP mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr 2:218,259,496...218,263,861
Ensembl chr 2:218,259,496...218,263,861
JBrowse link
G IFT88 intraflagellar transport 88 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8191288, PMID:8608416 NCBI chr13:20,566,446...20,691,444
Ensembl chr13:20,567,069...20,691,437
JBrowse link
G LOC101927082 uncharacterized LOC101927082 IAGP ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease ClinVar PMID:11898128, PMID:11919560, PMID:12506140, PMID:15698423, PMID:15805161, PMID:19914852, PMID:27225849, PMID:28492532 NCBI chr 6:51,621,870...51,622,577 JBrowse link
G MIR1225 microRNA 1225 IAGP ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease ClinVar PMID:25741868 NCBI chr16:2,090,195...2,090,284
Ensembl chr16:2,090,195...2,090,284
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO protein:increased serine phosphorylation:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr 1:11,106,535...11,273,497
Ensembl chr 1:11,106,535...11,262,551
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:kidney (mouse) RGD PMID:3479800 RGD:7207453 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G NEK1 NIMA related kinase 1 ISS OMIM:263200 MouseDO NCBI chr 4:169,392,809...169,612,629
Ensembl chr 4:169,392,857...169,612,629
Ensembl chr 4:169,392,857...169,612,629
JBrowse link
G NEK8 NIMA related kinase 8 ISS OMIM:263200 MouseDO NCBI chr17:28,728,788...28,743,455
Ensembl chr17:28,725,897...28,743,455
JBrowse link
G NPHP3 nephrocystin 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12089381 NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,414
JBrowse link
G PANX1 pannexin 1 ISO RGD PMID:31630543 RGD:14995937 NCBI chr11:94,128,841...94,185,596
Ensembl chr11:94,128,841...94,181,968
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 3:179,148,114...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting IAGP
ISS
ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease
OMIM:263200
ClinVar
MouseDO
PMID:10729710, PMID:11115377, PMID:11967008, PMID:17574468, PMID:17582161, PMID:19515475, PMID:21551026, PMID:22031115, PMID:22508176, PMID:24374109, PMID:25333066, PMID:25741868, PMID:26453610, PMID:26467025, PMID:26632257, PMID:29100090 NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898
JBrowse link
G PKD2 polycystin 2, transient receptor potential cation channel IAGP ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease ClinVar PMID:12707387, PMID:25741868, PMID:28492532, PMID:29529603, PMID:30333007 NCBI chr 4:88,007,635...88,077,779
Ensembl chr 4:88,007,635...88,077,777
JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin susceptibility
severity
IAGP
ISO
EXP
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
CTD Direct Evidence: marker/mechanism
DNA:splice site mutation:intron:IVS35-2A>T
protein:decreased expression:kidney
ClinVar
CTD
PMID:1189128, PMID:11898128, PMID:11919560, PMID:12506140, PMID:12846734, PMID:12874454, PMID:12925574, PMID:14741187, PMID:14971004, PMID:15108277, PMID:15108281, PMID:15696446, PMID:15698423, PMID:15706593, PMID:15805161, PMID:16133180, PMID:16199545, PMID:16523049, PMID:16632497, PMID:16876319, PMID:18414213, PMID:18503009, PMID:18988797, PMID:19021639, PMID:19176689, PMID:19524688, PMID:19914852, PMID:19940839, PMID:19940939, PMID:20413436, PMID:20460933, PMID:20575693, PMID:21046169, PMID:21228398, PMID:21274727, PMID:21493627, PMID:21685914, PMID:21790888, PMID:21896375, PMID:21945273, PMID:22034641, PMID:22995991, PMID:23041322, PMID:23265383, PMID:23389334, PMID:23582048, PMID:23757202, PMID:24033266, PMID:24121792, PMID:24162162, PMID:24336431, PMID:24710345, PMID:24984783, PMID:25114813, PMID:25124979, PMID:25153916, PMID:25193386, PMID:25326637, PMID:25525159, PMID:25646624, PMID:25701400, PMID:25741868, PMID:25771912, PMID:25966130, PMID:26139440, PMID:26385851, PMID:26489027, PMID:26489029, PMID:26633542, PMID:26673778, PMID:26695994, PMID:26721323, PMID:27151922, PMID:27225849, PMID:27491411, PMID:27577217, PMID:27595491, PMID:27752906, PMID:27894351, PMID:28170084, PMID:28375157, PMID:28492532, PMID:28518170, PMID:28555180, PMID:28578020, PMID:28851938, PMID:28862642, PMID:29520754, PMID:29643536, PMID:29801666, PMID:29956005, PMID:30311386, PMID:30507656, PMID:30510609, PMID:30566001, PMID:30650191, PMID:31395954, PMID:32576985, PMID:11919560, PMID:12874454, PMID:17519956, PMID:11919560, PMID:14983006 RGD:70439, RGD:11062506, RGD:14700917, RGD:70439, RGD:1642441 NCBI chr 6:51,614,685...52,087,625
Ensembl chr 6:51,615,299...52,087,613
JBrowse link
G SCLT1 sodium channel and clathrin linker 1 ISS OMIM:263200 MouseDO NCBI chr 4:128,874,390...129,093,580
Ensembl chr 4:128,864,921...129,093,600
JBrowse link
G SLC4A2 solute carrier family 4 member 2 ISO
EXP
mRNA, protein:increased expression, altered localization:cholangiocyte, basolateral plasma membrane
CTD Direct Evidence: marker/mechanism
CTD PMID:18988797, PMID:18988797 RGD:2307071 NCBI chr 7:151,058,200...151,076,527
Ensembl chr 7:151,057,210...151,076,526
JBrowse link
G SRC SRC proto-oncogene, non-receptor tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:18385429 NCBI chr20:37,344,690...37,406,050
Ensembl chr20:37,344,685...37,406,050
JBrowse link
G TMEM67 transmembrane protein 67 ISO RGD PMID:30705305 RGD:14995942 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
JBrowse link
G TSC1 TSC complex subunit 1 ISS OMIM:263200 MouseDO NCBI chr 9:132,891,349...132,945,269
Ensembl chr 9:132,891,348...132,946,874
JBrowse link
autosomal recessive pseudohypoaldosteronism type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LTBR lymphotoxin beta receptor IAGP ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive
ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1
ClinVar Annotator: match by term: Pseudohypoaldosteronism type 1 autosomal recessive
ClinVar PMID:25741868 NCBI chr12:6,375,160...6,391,571
Ensembl chr12:6,375,045...6,391,571
JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha IAGP 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 chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730
JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta IAGP ClinVar Annotator: match by term: Pseudohypoaldosteronism type 1 autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1
ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive
ClinVar
OMIM
PMID:8589714, PMID:9118951, PMID:9576123, PMID:9674649, PMID:10523338, PMID:11439319, PMID:15661075, PMID:16207733, PMID:18507830, PMID:19017867, PMID:19462466, PMID:21504729, PMID:24033266, PMID:25333069, PMID:25741868, PMID:25900089, PMID:26038974, PMID:26467025, PMID:28492532 NCBI chr16:23,278,231...23,381,295
Ensembl chr16:23,278,231...23,381,294
JBrowse link
G SCNN1G sodium channel epithelial 1 subunit gamma IAGP ClinVar Annotator: match by term: Pseudohypoaldosteronism type 1 autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1
ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive
ClinVar
OMIM
PMID:8640238, PMID:10391210, PMID:11231969, PMID:12473862, PMID:15198480, PMID:17460608, PMID:17634077, PMID:18507830, PMID:19462466, PMID:21956615, PMID:22995991, PMID:23149595, PMID:24033266, PMID:24882431, PMID:25741868, PMID:25900089, PMID:26135620, PMID:26467025, PMID:26537344, PMID:27884173, PMID:28492532, PMID:28497567, PMID:29229744, PMID:31655555 NCBI chr16:23,182,745...23,216,883
Ensembl chr16:23,182,745...23,216,883
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IAGP ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive ClinVar NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
Azotemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GH1 growth hormone 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:14728886 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839
JBrowse link
G REN renin EXP CTD Direct Evidence: marker/mechanism CTD PMID:6338847 NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324
JBrowse link
Balkan nephropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP53 tumor protein p53 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22071594 NCBI chr17:7,668,402...7,687,550
Ensembl chr17:7,661,779...7,687,538
Ensembl chr17:7,661,779...7,687,538
JBrowse link
Bartter disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BSND barttin CLCNK type accessory subunit beta IAGP 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 1:54,998,933...55,017,172
Ensembl chr 1:54,998,933...55,017,172
JBrowse link
G CLCNKB chloride voltage-gated channel Kb EXP CTD Direct Evidence: marker/mechanism CTD PMID:10561751 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,043,736...16,057,308
JBrowse link
G KCNJ1 potassium inwardly rectifying channel subfamily J member 1 IAGP
EXP
ClinVar Annotator: match by term: Antenatal Bartter Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:10561751, PMID:12911542, PMID:16982955, PMID:22275899, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr11:128,838,020...128,867,296
Ensembl chr11:128,836,315...128,867,373
JBrowse link
G REN renin EXP CTD Direct Evidence: marker/mechanism CTD PMID:929154, PMID:3519017, PMID:15976003 NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324
JBrowse link
G SLC12A1 solute carrier family 12 member 1 IAGP
EXP
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 chr15:48,206,302...48,304,078
Ensembl chr15:48,178,438...48,304,078
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 IAGP ClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal ClinVar
OMIM
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 chr15:48,206,302...48,304,078
Ensembl chr15:48,178,438...48,304,078
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 IAGP ClinVar Annotator: match by term: Bartter syndrome, type 2, antenatal ClinVar
OMIM
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 chr11:128,838,020...128,867,296
Ensembl chr11:128,836,315...128,867,373
JBrowse link
Bartter disease type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCNKA chloride voltage-gated channel Ka IAGP ClinVar Annotator: match by term: Bartter syndrome type 3 ClinVar PMID:25741868 NCBI chr 1:16,022,036...16,034,050
Ensembl chr 1:16,018,875...16,034,050
JBrowse link
G CLCNKB chloride voltage-gated channel Kb IAGP ClinVar Annotator: match by term: Bartter syndrome type 3 ClinVar
OMIM
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 1:16,043,782...16,057,326
Ensembl chr 1:16,043,736...16,057,308
JBrowse link
G LOC106501713 CLCNKB recombination region IAGP ClinVar Annotator: match by term: Bartter syndrome type 3 ClinVar PMID:9326936, PMID:10831588, 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 1:16,044,593...16,059,459 JBrowse link
Bartter disease type 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BSND barttin CLCNK type accessory subunit beta IAGP ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS
ClinVar Annotator: match by term: Bartter disease type 4a
ClinVar
OMIM
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 1:54,998,933...55,017,172
Ensembl chr 1:54,998,933...55,017,172
JBrowse link
Bartter disease type 4b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCNKA chloride voltage-gated channel Ka IAGP ClinVar Annotator: match by term: Bartter syndrome, type 4b ClinVar
OMIM
PMID:15044642, PMID:18310267, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:16,022,036...16,034,050
Ensembl chr 1:16,018,875...16,034,050
JBrowse link
G CLCNKB chloride voltage-gated channel Kb IAGP OMIM NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,043,736...16,057,308
JBrowse link
G LOC106501712 CLCNKA recombination region IAGP ClinVar Annotator: match by term: Bartter syndrome, type 4b ClinVar PMID:15044642, PMID:18310267, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:16,023,929...16,036,205 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 IAGP ClinVar Annotator: match by term: Bartter syndrome, type 5, antenatal, transient ClinVar
OMIM
PMID:27120771 NCBI chr  X:54,807,745...54,816,015
Ensembl chr  X:54,807,599...54,816,015
JBrowse link
Bartter Syndrome Type 3, with Hypocalciuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCNKB chloride voltage-gated channel Kb IAGP ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria ClinVar PMID:15531551, PMID:16902263, PMID:20810575, PMID:26920127, PMID:28492532 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,043,736...16,057,308
JBrowse link
G LOC106501713 CLCNKB recombination region IAGP ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria ClinVar PMID:15531551, PMID:16902263, PMID:20810575, PMID:26920127, PMID:28492532 NCBI chr 1:16,044,593...16,059,459 JBrowse link
benign familial hematuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A3 collagen type IV alpha 3 chain IAGP ClinVar Annotator: match by term: Benign familial hematuria ClinVar
OMIM
PMID:11961012, PMID:25307543, PMID:25741868, PMID:19357112 RGD:7242047 NCBI chr 2:227,164,589...227,314,792
Ensembl chr 2:227,164,624...227,314,792
Ensembl chr 2:227,164,624...227,314,792
JBrowse link
G COL4A4 collagen type IV alpha 4 chain IAGP ClinVar Annotator: match by term: Benign familial hematuria 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 2:226,970,293...227,164,482
Ensembl chr 2:227,002,714...227,164,453
Ensembl chr 2:227,002,714...227,164,453
JBrowse link
G COL4A5 collagen type IV alpha 5 chain IAGP ClinVar Annotator: match by term: Familial hematuria ClinVar NCBI chr  X:108,439,838...108,697,545
Ensembl chr  X:108,439,844...108,697,545
Ensembl chr  X:108,439,844...108,697,545
JBrowse link
G LAMA5 laminin subunit alpha 5 IAGP ClinVar Annotator: match by term: Familial hematuria ClinVar NCBI chr20:62,309,060...62,367,318
Ensembl chr20:62,307,955...62,367,312
JBrowse link
G MFF-DT MFF divergent transcript IAGP ClinVar Annotator: match by term: Benign familial hematuria ClinVar PMID:11961012, PMID:25307543, PMID:25741868 NCBI chr 2:227,221,052...227,325,164
Ensembl chr 2:227,221,052...227,325,711
JBrowse link
Bifid Nose with or without Anorectal And Renal Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FREM1 FRAS1 related extracellular matrix 1 IAGP
EXP
ClinVar Annotator: match by term: Bifid nose with or without anorectal and renal anomalies
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:11822703, PMID:19732862, PMID:23221805, PMID:25741868 NCBI chr 9:14,734,666...14,911,653
Ensembl chr 9:14,734,666...14,910,995
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22232670 NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152
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 IAGP 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 4:1,793,293...1,808,872
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP 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 chr11:532,242...535,576
Ensembl chr11:532,242...537,287
JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP 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 chr11:518,967...554,916
Ensembl chr11:537,527...554,912
JBrowse link
G PMF1 polyamine modulated factor 1 disease_progression IDA RGD PMID:22682992 RGD:30296649 NCBI chr 1:156,212,988...156,240,077
Ensembl chr 1:156,212,993...156,240,042
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 IMP
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:22077972, PMID:17922784 RGD:5133442 NCBI chr 1:239,386,565...239,915,450
Ensembl chr 1:239,386,565...239,915,452
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 4:122,826,708...122,898,236
Ensembl chr 4:122,826,708...122,898,236
JBrowse link
G INS insulin EXP CTD Direct Evidence: therapeutic CTD PMID:2055425 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,341
Ensembl chr11:2,159,779...2,161,341
JBrowse link
G MYOCD myocardin ISS MouseDO NCBI chr17:12,665,890...12,768,949
Ensembl chr17:12,665,890...12,768,949
JBrowse link
G NGF nerve growth factor ISO associated with Diabetes Mellitus, Experimental RGD PMID:15448108 RGD:7242800 NCBI chr 1:115,285,915...115,338,253
Ensembl chr 1:115,285,917...115,338,256
Ensembl chr 1:115,285,917...115,338,256
Ensembl chr 1:115,285,917...115,338,256
JBrowse link
G RASSF1 Ras association domain family member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23527093 NCBI chr 3:50,329,786...50,340,836
Ensembl chr 3:50,329,782...50,340,980
JBrowse link
G RGS2 regulator of G protein signaling 2 treatment ISO associated with hypertension RGD PMID:19689474 RGD:9684972 NCBI chr 1:192,809,039...192,812,275
Ensembl chr 1:192,809,039...192,812,275
JBrowse link
G RGS3 regulator of G protein signaling 3 treatment ISO associated with hypertension RGD PMID:19689474 RGD:9684972 NCBI chr 9:113,444,730...113,597,743
Ensembl chr 9:113,444,731...113,597,743
JBrowse link
G RGS4 regulator of G protein signaling 4 treatment ISO associated with hypertension RGD PMID:19689474 RGD:9684972 NCBI chr 1:163,068,871...163,076,802
Ensembl chr 1:163,068,775...163,076,802
JBrowse link
G SLC18A3 solute carrier family 18 member A3 ISO associated with Spinal Cord Injuries;protein:decreased expression:axon terminus RGD PMID:17229408 RGD:5686699 NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720
JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23527093 NCBI chr22:32,801,705...32,863,041
Ensembl chr22:32,801,705...32,863,041
Ensembl chr22:32,801,705...32,863,041
JBrowse link
G VIP vasoactive intestinal peptide EXP CTD Direct Evidence: marker/mechanism CTD PMID:18299998 NCBI chr 6:152,750,797...152,759,765
Ensembl chr 6:152,750,797...152,759,765
JBrowse link
bladder diverticulum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 IAGP ClinVar Annotator: match by term: Diverticulum of bladder ClinVar PMID:25741868 NCBI chr 2:55,865,967...55,924,163
Ensembl chr 2:55,865,967...55,924,139
JBrowse link
BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT term browser