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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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


show annotations for term's descendants           Sort by:
 
46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRPS22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: 46,XX gonadal dysgenesis ClinVar PMID:29566152 NCBI chr 3:136,380,963...136,394,148
Ensembl chr 3:143,980,670...143,993,842
JBrowse link
G WNT4 Wnt family member 4 ISO OMIM NCBI chr 1:21,310,228...21,335,985
Ensembl chr 1:22,255,056...22,268,801
JBrowse link
acute kidney failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme treatment ISO RGD PMID:24502693 RGD:11039053 NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
JBrowse link
G ADRB2 adrenoceptor beta 2 treatment ISO associated with endotoxemia; protein:increased expression:kidney
associated with Bacteremia;
associated with Endotoxemia;
RGD PMID:14747378, PMID:19020966, PMID:19887504 RGD:7175276, RGD:7175281, RGD:7175283 NCBI chr 5:144,259,756...144,398,421
Ensembl chr 5:150,267,554...150,315,892
JBrowse link
G AFM afamin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 4:50,691,556...50,714,140
Ensembl chr 4:56,519,389...56,545,974
JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO RGD PMID:21811803 RGD:7243868 NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
JBrowse link
G AHSG alpha 2-HS glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 3:183,644,223...183,652,620
Ensembl chr 3:192,110,770...192,119,915
JBrowse link
G ALAD aminolevulinate dehydratase ISO protein:decreased activity:kidney (rat) RGD PMID:19484701 RGD:4144146 NCBI chr 9:84,488,339...84,503,360
Ensembl chr 9:112,859,171...112,873,784
JBrowse link
G ALB albumin ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:2048579, PMID:21259293, PMID:24361871, PMID:28885000 NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418
JBrowse link
G ALOX5 arachidonate 5-lipoxygenase ISO RGD PMID:19194548 RGD:2317536 NCBI chr10:42,461,398...42,531,576
Ensembl chr10:45,639,946...45,710,016
JBrowse link
G AMBP alpha-1-microglobulin/bikunin precursor ISO CTD Direct Evidence: marker/mechanism|therapeutic RGD
CTD
PMID:8963945, PMID:28885000 RGD:6904218 NCBI chr 9:85,157,680...85,176,253
Ensembl chr 9:113,525,835...113,543,422
JBrowse link
G AMN amnion associated transmembrane protein ISO CTD Direct Evidence: therapeutic CTD PMID:20514524 NCBI chr14:83,541,891...83,550,346
Ensembl chr14:103,356,773...103,365,352
JBrowse link
G ANXA1 annexin A1 treatment ISO RGD PMID:22101490 RGD:7421583 NCBI chr 9:51,647,404...51,665,990
Ensembl chr 9:71,929,728...71,948,779
JBrowse link
G AR androgen receptor ISO RGD PMID:24503548 RGD:11570523 NCBI chr  X:56,722,828...56,909,004
Ensembl chr  X:66,791,081...66,969,357
JBrowse link
G ARG1 arginase 1 ISO mRNA:decreased expression:renal tubule (rat) RGD PMID:12371970 RGD:631989 NCBI chr 6:129,372,747...129,383,880
Ensembl chr 6:133,479,966...133,491,162
JBrowse link
G ARG2 arginase 2 ISO mRNA:decreased expression:renal tubule (rat) RGD PMID:12371970 RGD:631989 NCBI chr14:48,197,831...48,231,829
Ensembl chr14:67,075,941...67,109,962
JBrowse link
G ATP5F1B ATP synthase F1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25666834 NCBI chr12:32,264,570...32,272,419
Ensembl chr12:32,519,749...32,527,753
JBrowse link
G AVP arginine vasopressin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2139164 NCBI chr20:3,169,094...3,172,900 JBrowse link
G AVPR1A arginine vasopressin receptor 1A ISO RGD PMID:17347933 RGD:2300348 NCBI chr12:25,793,633...25,803,026
Ensembl chr12:26,065,882...26,075,972
JBrowse link
G B2M beta-2-microglobulin ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum
CTD
RGD
PMID:2689182, PMID:19536607, PMID:22005293, PMID:28885000 RGD:6482685 NCBI chr15:23,668,108...23,674,791
Ensembl chr15:41,836,345...41,842,991
JBrowse link
G BAD BCL2 associated agonist of cell death treatment ISO RGD PMID:20037173 RGD:10053672 NCBI chr11:59,626,981...59,641,824
Ensembl chr11:62,971,808...62,986,257
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:20037173, PMID:20623750 RGD:10053672 NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO protein:increased expression:kidney RGD PMID:20037173 RGD:10053672 NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
JBrowse link
G BCL2L1 BCL2 like 1 ISO protein:increased expression:kidney RGD PMID:20037173 RGD:10053672 NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585
JBrowse link
G BDKRB2 bradykinin receptor B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24975837 NCBI chr14:76,832,833...76,873,860
Ensembl chr14:96,156,494...96,196,253
JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
JBrowse link
G CAPN1 calpain 1 treatment ISO associated with Rhabdomyolysis; RGD PMID:24158126 RGD:13792553 NCBI chr11:60,545,837...60,576,631
Ensembl chr11:63,886,015...63,916,021
JBrowse link
G CASP1 caspase 1 ISO RGD PMID:16557226 RGD:2293624 NCBI chr11:99,965,964...99,975,640
Ensembl chr11:103,448,497...103,458,149
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO protein:increased secretion:serum (mouse) RGD PMID:19508392 RGD:4889990 NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26055553 NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379
JBrowse link
G CCT7 chaperonin containing TCP1 subunit 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31825490 NCBI chr2A:73,287,026...73,305,792
Ensembl chr2A:74,775,781...74,794,515
JBrowse link
G CD44 CD44 molecule (Indian blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chr11:35,110,732...35,258,238
Ensembl chr11:34,985,634...35,079,009
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO protein:decreased expression:kidney RGD PMID:16557226 RGD:2293624 NCBI chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541
JBrowse link
G CLU clusterin ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:urine
CTD
RGD
PMID:20118187, PMID:20623750, PMID:22005293, PMID:22581811, PMID:23052191, PMID:24361871, PMID:28885000 RGD:7245501 NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523
JBrowse link
G CP ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 3:146,180,527...146,239,833
Ensembl chr 3:153,764,830...153,817,544
JBrowse link
G CRP C-reactive protein ISO protein:increased expression:serum
associated with Myocardial Infarction;
RGD PMID:22551254, PMID:22694718 RGD:6903282, RGD:6906888 NCBI chr 1:135,062,102...135,064,402 JBrowse link
G CSF1 colony stimulating factor 1 ISO RGD PMID:23143303 RGD:7257565 NCBI chr 1:112,555,755...112,575,894
Ensembl chr 1:127,764,916...127,781,943
JBrowse link
G CSF1R colony stimulating factor 1 receptor ISO RGD PMID:23143303 RGD:7257565 NCBI chr 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415
JBrowse link
G CST3 cystatin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22005293, PMID:28885000 NCBI chr20:23,583,043...23,587,399
Ensembl chr20:23,935,942...23,940,425
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 4:50,325,248...50,327,165
Ensembl chr 4:56,153,899...56,159,474
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 treatment ISO RGD PMID:18495746, PMID:19890363 RGD:7257732, RGD:7257735 NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636
JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 treatment ISO RGD PMID:18495746, PMID:23981375 RGD:7257727, RGD:7257735 NCBI chr15:53,692,877...53,699,279
Ensembl chr15:73,311,720...73,319,447
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO RGD PMID:6223803 RGD:2307326 NCBI chr12:31,158,814...31,164,462
Ensembl chr12:31,419,773...31,424,822
JBrowse link
G CYP2C19 cytochrome P450 family 2 subfamily C member 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19814645 NCBI chr10:91,375,255...91,465,215
Ensembl chr10:94,884,472...94,970,065
JBrowse link
G CYP2C9 cytochrome P450 family 2 subfamily C member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19814645 NCBI chr10:91,547,865...91,598,918
Ensembl chr10:95,022,482...95,105,653
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 treatment ISO RGD PMID:24412858, PMID:24717297 RGD:14700914, RGD:14700920 Ensembl chr10:134,839,025...134,852,719 JBrowse link
G DDIT3 DNA damage inducible transcript 3 ISO Protein:increased expression:renal tubule epithelium RGD PMID:15476864 RGD:1599736 NCBI chr12:31,406,332...31,410,293
Ensembl chr12:31,664,743...31,668,701
JBrowse link
G ECE1 endothelin converting enzyme 1 ISO RGD PMID:10073607, PMID:11043448 RGD:7244180, RGD:7244185 NCBI chr 1:20,166,019...20,290,803
Ensembl chr 1:21,206,199...21,278,909
JBrowse link
G EDN1 endothelin 1 ISO mRNA, protein:increased expression:kidney (mouse)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:9788586, PMID:19967049 RGD:4144852 NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545
JBrowse link
G EGF epidermal growth factor ISO RGD PMID:20482449 RGD:6906908 NCBI chr 4:102,410,724...102,509,691
Ensembl chr 4:112,977,565...113,076,460
JBrowse link
G EGFR epidermal growth factor receptor ISO mRNA:increased expression:kidney
CTD Direct Evidence: therapeutic
RGD
CTD
PMID:11340354, PMID:14638913 RGD:10395241 NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
JBrowse link
G EGLN1 egl-9 family hypoxia inducible factor 1 ISO mRNA, protein:decreased expression:kidney RGD PMID:19349364 RGD:11252083 NCBI chr 1:206,915,541...206,976,656 JBrowse link
G EGLN3 egl-9 family hypoxia inducible factor 3 ISO mRNA, protein:decreased expression:kidney RGD PMID:19349364 RGD:11252083 NCBI chr14:14,689,398...14,716,301
Ensembl chr14:32,880,324...32,907,241
JBrowse link
G EPAS1 endothelial PAS domain protein 1 treatment ISO RGD PMID:16762988 RGD:10395386 NCBI chr2A:46,403,411...46,492,734
Ensembl chr2A:47,332,308...47,421,560
JBrowse link
G EPHX2 epoxide hydrolase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:26165641 NCBI chr 8:26,761,090...26,818,436
Ensembl chr 8:23,964,094...24,017,749
JBrowse link
G EPO erythropoietin treatment ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:21847101, PMID:22209169, PMID:22235348, PMID:24561306 RGD:10400913, RGD:11041660 NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974
JBrowse link
G FAS Fas cell surface death receptor ISO protein:increased expression:renal tubule (rat) RGD PMID:21374789 RGD:8663469 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
JBrowse link
G FGA fibrinogen alpha chain ISO mRNA:increased expression:kidney (rat) RGD PMID:15805072 RGD:9685024 NCBI chr 4:146,949,680...146,957,291 JBrowse link
G FIS1 fission, mitochondrial 1 ISO protein:decreased expression:kidney (rat) RGD PMID:26480480 RGD:12910862 NCBI chr 7:93,381,058...93,386,483
Ensembl chr 7:106,621,211...106,626,683
JBrowse link
G FN1 fibronectin 1 ISO protein:increased expression:kidney RGD PMID:11768240, PMID:12884040 RGD:7205684, RGD:729934 NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003
JBrowse link
G FSTL1 follistatin like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20861081 NCBI chr 3:117,508,772...117,564,254 JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:602954, PMID:734759, PMID:4794122 NCBI chr  X:143,972,798...143,988,960
Ensembl chr  X:153,843,092...153,860,674
JBrowse link
G GATM glycine amidinotransferase ISO protein:decreased activity:kidney (rat) RGD PMID:2752493 RGD:1599823 NCBI chr15:24,309,045...24,326,673
Ensembl chr15:42,639,597...42,657,209
JBrowse link
G GC GC vitamin D binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 4:52,431,196...52,473,762
Ensembl chr 4:58,729,236...58,792,073
JBrowse link
G GFER growth factor, augmenter of liver regeneration treatment ISO CTD Direct Evidence: therapeutic
protein:increased expression:cortex of kidney,renal medulla:
RGD
CTD
PMID:20030531 RGD:9685736 NCBI chr16:716,640...720,196
Ensembl chr16:2,073,064...2,076,592
JBrowse link
G GHRL ghrelin and obestatin prepropeptide ISO RGD PMID:19625378 RGD:7242430 NCBI chr 3:10,221,829...10,229,229
Ensembl chr 3:10,573,537...10,580,723
JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO protein:decreased activity:kidney (rat) RGD PMID:23924727 RGD:13506245 NCBI chr16:38,995,770...39,022,750
Ensembl chr16:58,120,781...58,147,378
JBrowse link
G GPNMB glycoprotein nmb ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chr 7:23,931,220...23,959,687
Ensembl chr 7:23,539,928...23,568,624
JBrowse link
G GSK3B glycogen synthase kinase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:22785175 NCBI chr 3:116,943,205...117,215,001
Ensembl chr 3:123,861,379...124,126,771
JBrowse link
G GSR glutathione-disulfide reductase ISO protein:decreased activity:kidney:
glycerol-induced
RGD PMID:1870354, PMID:22286819 RGD:7257559, RGD:7257585 NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557
JBrowse link
G GSTM2 glutathione S-transferase mu 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20623750 NCBI chr 1:112,043,201...112,050,810 JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:20623750, PMID:20798258 RGD:6903954 NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472
JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 ISO protein:increased expression:urine:
CTD Direct Evidence: marker/mechanism
associated with Pyelonephritis;protein:increased expression:urine:
RGD
CTD
PMID:20118187, PMID:21259293, PMID:21835770, PMID:22005293, PMID:23019274, PMID:23052191, PMID:23319831, PMID:23683031, PMID:23845967, PMID:24189134, PMID:24361871, PMID:24958931, PMID:28885000 RGD:7244370, RGD:7245472, RGD:7245495 NCBI chr 5:152,429,337...152,459,800
Ensembl chr 5:158,413,073...158,442,481
JBrowse link
G HBEGF heparin binding EGF like growth factor ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:kidney
CTD
RGD
PMID:7635938, PMID:11340354 RGD:10395241 NCBI chr 5:135,699,553...135,713,366
Ensembl chr 5:141,816,402...141,830,531
JBrowse link
G HBG2 hemoglobin subunit gamma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:562503, PMID:851170 NCBI chr11:5,402,198...5,407,442 JBrowse link
G HDAC2 histone deacetylase 2 treatment ISO associated with sepsis; RGD PMID:22933299 RGD:9590257 NCBI chr 6:111,731,139...111,761,826
Ensembl chr 6:115,802,367...115,833,004
JBrowse link
G HDAC3 histone deacetylase 3 ISO RGD PMID:21416250 RGD:10047111 NCBI chr 5:136,981,790...136,997,786
Ensembl chr 5:143,094,406...143,110,322
JBrowse link
G HDAC5 histone deacetylase 5 treatment ISO associated with sepsis; RGD PMID:21416250, PMID:22933299 RGD:10047111, RGD:9590257 NCBI chr17:13,273,052...13,319,695
Ensembl chr17:13,446,836...13,479,140
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:24325066, PMID:24397211 RGD:9685383, RGD:9685389 NCBI chr 3:191,432,513...191,435,387
Ensembl chr 3:201,749,044...201,754,257
JBrowse link
G HEXB hexosaminidase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:22005293 NCBI chr 5:40,589,448...40,625,176
Ensembl chr 5:41,199,681...41,232,693
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha treatment ISO mRNA:increased expression:renal cortex (rat) RGD PMID:15673301, PMID:16762988, PMID:18593636 RGD:10395376, RGD:10395386, RGD:9068894 NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO associated with Sepsis RGD PMID:16557230 RGD:5508471 NCBI chr 5:39,936,630...39,961,519
Ensembl chr 5:40,548,919...40,573,785
JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO associated with Sepsis
CTD Direct Evidence: therapeutic
RGD
CTD
PMID:21048024, PMID:23807243 RGD:10755583 NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063
JBrowse link
G HPX hemopexin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr11:6,558,279...6,572,946
Ensembl chr11:6,246,392...6,256,410
JBrowse link
G HSPA1A heat shock protein family A (Hsp70) member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12690470, PMID:19546256 NCBI chr 6:31,476,710...31,491,411 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 chr11:117,890,545...117,895,262
Ensembl chr11:121,809,800...121,815,773
JBrowse link
G ICAM1 intercellular adhesion molecule 1 treatment ISO RGD PMID:22659586 RGD:7175102 NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
JBrowse link
G IGF1 insulin like growth factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:7540432 NCBI chr12:99,986,887...100,066,773 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 chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974
JBrowse link
G IGFBP1 insulin like growth factor binding protein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:7540432 NCBI chr 7:46,538,566...46,545,536
Ensembl chr 7:46,658,097...46,662,584
JBrowse link
G IL10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18460982 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
JBrowse link
G IL18 interleukin 18 ISO RGD PMID:11342578 RGD:6893450 NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
JBrowse link
G IL1A interleukin 1 alpha ISO RGD PMID:21716595 RGD:6907069 NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
JBrowse link
G IL1B interleukin 1 beta ISO protein:increased expression:kidney (rat)
mRNA:increased expression:kidney, liver, spleen (mouse)
RGD PMID:21677145, PMID:22286667, PMID:22659586, PMID:22750969 RGD:7175094, RGD:7175102, RGD:7175258, RGD:7175314 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G IL20 interleukin 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18496552 NCBI chr 1:182,468,571...182,472,440
Ensembl chr 1:186,747,086...186,750,952
JBrowse link
G IL6 interleukin 6 ISO associated with Acute Lung Injury;protein:increased expression:plasma
CTD Direct Evidence: therapeutic
RGD
CTD
PMID:18074478, PMID:21570986 RGD:5128661 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G INS insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12243603 NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666
JBrowse link
G KLK1 kallikrein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18227104 NCBI chr19:47,784,368...47,789,004
Ensembl chr19:56,677,579...56,682,216
JBrowse link
G KNG1 kininogen 1 ISO CTD Direct Evidence: therapeutic CTD PMID:513486, PMID:3015452 NCBI chr 3:183,751,598...183,778,655
Ensembl chr 3:192,219,462...192,245,149
JBrowse link
G LCN2 lipocalin 2 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:urine
CTD
RGD
PMID:20623750, PMID:22005293, PMID:23052191, PMID:23683031, PMID:27888128, PMID:28885000 RGD:7244370 NCBI chr 9:99,259,278...99,274,494
Ensembl chr 9:127,940,799...127,944,798
JBrowse link
G LGALS3 galectin 3 ISO mRNA:increased expression:kidney RGD PMID:10980121 RGD:9685228 NCBI chr14:35,715,850...35,732,263
Ensembl chr14:53,990,023...54,006,412
JBrowse link
G LOC100972354 interferon alpha-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12810204 NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736
JBrowse link
G LOC100978169 mucin-20 ISO RGD PMID:14565953 RGD:7364790
G LOC100982214 plasminogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 6:158,662,192...158,713,413
Ensembl chr 6:163,673,464...163,736,777
JBrowse link
G LOC100991079 interleukin-1 receptor antagonist protein ISO associated with Asphyxia; rat model treated with human protein
associated with Sepsis
RGD PMID:14610321, PMID:16259926, PMID:16763508 RGD:6907360, RGD:6907369, RGD:6907375 NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
JBrowse link
G LOC100995326 serotransferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 3:130,799,063...130,830,227
Ensembl chr 3:138,274,159...138,305,476
JBrowse link
G LRP2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29286200 NCBI chr2B:56,407,871...56,640,471
Ensembl chr2B:173,873,767...174,103,697
JBrowse link
G MB myoglobin ISO protein: increased expression: serum RGD PMID:9822635, PMID:23497406 RGD:7244253, RGD:7244259 NCBI chr22:16,612,519...16,645,333
Ensembl chr22:34,452,451...34,463,224
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO protein:increased expression:renal parenchyma (rat) RGD PMID:17940345 RGD:2317469 NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159
JBrowse link
G MFN1 mitofusin 1 ISO protein:decreased expression:kidney (rat) RGD PMID:26480480 RGD:12910862 NCBI chr 3:176,378,175...176,423,943
Ensembl chr 3:184,552,108...184,596,763
JBrowse link
G MPO myeloperoxidase ISO DNA:haplotye: :
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:19793022, PMID:20623750, PMID:22739978 RGD:6909168, RGD:6909185 NCBI chr17:52,333,882...52,357,838
Ensembl chr17:57,201,073...57,212,111
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17387702 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO RGD PMID:23022334 RGD:7245507 NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor susceptibility ISO protein:decreased phosphorylation:kidney (mouse) RGD PMID:23228991 RGD:7207407 NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863
JBrowse link
G NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 ISO RGD PMID:22160772 RGD:13801199 NCBI chr10:97,123,826...97,129,919
Ensembl chr10:100,604,914...100,611,016
JBrowse link
G NES nestin ISO RGD PMID:24503548 RGD:11570523 NCBI chr 1:132,012,273...132,020,907
Ensembl chr 1:135,835,456...135,844,094
JBrowse link
G NFE2L2 nuclear factor, erythroid 2 like 2 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:24291173, PMID:24958931 RGD:10412697 NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085
JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29286200 NCBI chr 4:94,925,048...95,040,849
Ensembl chr 4:105,589,062...105,704,098
JBrowse link
G NOS1 nitric oxide synthase 1 ISO RGD PMID:14531809 RGD:13825139 NCBI chr12:114,784,232...114,938,385
Ensembl chr12:118,163,655...118,314,005
JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9810145 NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism
in females;mRNA:increased expression:cortex of kidney (rat)
CTD
RGD
PMID:9788586, PMID:28947737 RGD:13450947 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
JBrowse link
G NPPA natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism|therapeutic
mRNA:increased expression:kidney
CTD
RGD
PMID:1825077, PMID:2948068, PMID:19298916, PMID:22209992 RGD:7247715 NCBI chr 1:10,608,025...10,610,287
Ensembl chr 1:11,825,072...11,827,373
JBrowse link
G NPPB natriuretic peptide B ISO mRNA:increased expression:kidney
associated with Myocardial Infarction;protein:increased expression:serum:
associated with lung diseases;protein:increased expression:serum:
associated with Pneumonia;protein:increased expression:serum:
RGD PMID:22209992, PMID:23192919, PMID:23415693, PMID:23837838 RGD:7247620, RGD:7247622, RGD:7247624, RGD:7247715 NCBI chr 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995
JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:26723870, PMID:28230744 RGD:13440091 NCBI chr16:50,090,696...50,106,495
Ensembl chr16:69,470,288...69,489,731
JBrowse link
G OCLN occludin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19766176 NCBI chr 5:44,447,230...44,509,637
Ensembl chr 5:46,023,437...46,069,342
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO RGD PMID:21884784 RGD:5510015 NCBI chr 1:201,820,355...201,867,673
Ensembl chr 1:206,812,981...206,860,356
JBrowse link
G PKD2 polycystin 2, transient receptor potential cation channel ISO protein:altered localization RGD PMID:12089381 RGD:7175293 NCBI chr 4:80,295,243...80,365,271
Ensembl chr 4:91,019,734...91,086,775
JBrowse link
G PLAT plasminogen activator, tissue type ISO protein:increased expression:plasma (human) RGD PMID:9767551 RGD:11541071 NCBI chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:17216604 NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma treatment ISO CTD Direct Evidence: marker/mechanism|therapeutic RGD
CTD
PMID:17494862, PMID:20623750, PMID:24011919, PMID:24433871 RGD:8553020 NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO associated with Endotoxemia; mRNA:decreased expression:kidney (mouse) RGD PMID:21881206 RGD:7242026 NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212
JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa treatment ISO RGD PMID:19092124 RGD:11250410 NCBI chr2B:32,846,899...32,859,060
Ensembl chr2B:128,083,794...128,094,625
JBrowse link
G PROCR protein C receptor treatment ISO associated with Sepsis RGD PMID:23807243 RGD:10755583 NCBI chr20:31,500,838...31,543,928
Ensembl chr20:32,622,876...32,628,320
JBrowse link
G PTAFR platelet activating factor receptor treatment ISO associated with Endotoxemia RGD PMID:2538527 RGD:10043182 NCBI chr 1:27,405,880...27,436,184
Ensembl chr 1:28,447,833...28,448,861
JBrowse link
G PTGER4 prostaglandin E receptor 4 treatment ISO RGD PMID:16871242 RGD:10003092 NCBI chr 5:69,686,906...69,700,739
Ensembl chr 5:74,731,470...74,745,148
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:21893983 RGD:5508181 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
JBrowse link
G RAPGEF3 Rap guanine nucleotide exchange factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21745194 NCBI chr12:40,974,756...40,999,471
Ensembl chr12:41,848,785...41,873,252
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO associated with Sepsis;protein:increased phosphorylation:kidney RGD PMID:19428114 RGD:8547990 NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575
JBrowse link
G SCGB1A1 secretoglobin family 1A member 1 ISO associated with LPS induced endotoxemia RGD PMID:18824919 RGD:2313129 NCBI chr11:57,774,560...57,780,334
Ensembl chr11:61,133,649...61,137,873
JBrowse link
G SERPINA1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr14:75,001,714...75,014,214
Ensembl chr14:94,334,258...94,345,419
JBrowse link
G SERPINC1 serpin family C member 1 ISO associated with heart failure; protein:decreased activity:plasma: RGD PMID:26108065 RGD:11354006 NCBI chr 1:149,421,737...149,435,301
Ensembl chr 1:153,126,031...153,139,369
JBrowse link
G SIRT1 sirtuin 1 severity ISO protein:increased expression:kidney (rat)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:21416250 RGD:10047111 NCBI chr10:64,368,878...64,401,684
Ensembl chr10:66,681,598...66,715,069
JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20623750 NCBI chr2B:105,640,613...105,655,524
Ensembl chr2B:224,238,284...224,252,941
JBrowse link
G SLC22A1 solute carrier family 22 member 1 treatment ISO RGD PMID:22414646 RGD:7243179 NCBI chr 6:158,004,545...158,046,428
Ensembl chr 6:163,014,663...163,054,681
JBrowse link
G SLC22A12 solute carrier family 22 member 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14655203 NCBI chr11:59,944,311...59,956,102
Ensembl chr11:63,290,329...63,299,047
JBrowse link
G SLC22A2 solute carrier family 22 member 2 susceptibility
treatment
ISO mRNA:decreased expression:kidney
DNA:SNP: :808G>T (rs316019) human
RGD PMID:18612803, PMID:19625999, PMID:22414646 RGD:7243179, RGD:7243880, RGD:7243884 NCBI chr 6:158,058,226...158,150,917
Ensembl chr 6:163,065,317...163,158,931
JBrowse link
G SLC22A24 solute carrier family 22 member 24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23649842, PMID:26230185 NCBI chr11:58,431,450...58,497,875 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 5:172,685,862...172,700,440
Ensembl chr 5:179,748,492...179,762,975
JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr21:18,029,831...18,037,526 JBrowse link
G SPP1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11274264, PMID:20623750, PMID:22863853 RGD:6903264 NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935
JBrowse link
G TFF3 trefoil factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chr21:28,627,191...28,631,341
Ensembl chr21:41,948,696...41,952,268
JBrowse link
G TGFA transforming growth factor alpha ISO mRNA:increased expression:kidney RGD PMID:11340354 RGD:10395241 NCBI chr2A:70,510,727...70,617,628
Ensembl chr2A:71,625,196...71,731,461
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10469268 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
JBrowse link
G THBD thrombomodulin treatment ISO RGD PMID:17804460, PMID:19176699 RGD:5684994, RGD:5685010 NCBI chr20:22,992,341...22,996,415
Ensembl chr20:23,345,917...23,347,812
JBrowse link
G TLR2 toll like receptor 2 ISO associated with Sepsis
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:22655058, PMID:29286200 RGD:7207898 NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
JBrowse link
G TLR4 toll like receptor 4 treatment ISO associated with Sepsis
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16638912, PMID:22266601, PMID:22655058, PMID:29286200 RGD:6892690, RGD:7207898, RGD:7241084 NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
JBrowse link
G TNF tumor necrosis factor susceptibility ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:16595132, PMID:18460982, PMID:20623750, PMID:21150875 RGD:7245548 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G TNFRSF12A TNF receptor superfamily member 12A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chr16:1,962,179...1,964,223 JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A susceptibility ISO associated with Endotoxemia
associated with Shock, Septic;protein:increased expression:serum
associated with Acute Lung Injury
RGD PMID:12023385, PMID:12500222, PMID:18074478, PMID:21150875 RGD:5128661, RGD:7245534, RGD:7245535, RGD:7245548 NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO associated with Acute Lung Injury
associated with Shock, Septic;protein:increased expression:serum
RGD PMID:12500222, PMID:12865254, PMID:18074478 RGD:5128661, RGD:7245532, RGD:7245534 NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20603111 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
JBrowse link
G TTR transthyretin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr18:24,809,707...24,816,713
Ensembl chr18:28,407,893...28,414,960
JBrowse link
G UTS2R urotensin 2 receptor ISO RGD PMID:15146030 RGD:2306847 NCBI chr17:76,783,432...76,788,639
Ensembl chr17:82,592,312...82,593,702
JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:20943766, PMID:22808199 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
JBrowse link
G WNT4 Wnt family member 4 ISO RGD PMID:12707392 RGD:727218 NCBI chr 1:21,310,228...21,335,985
Ensembl chr 1:22,255,056...22,268,801
JBrowse link
G XDH xanthine dehydrogenase treatment ISO associated with Reperfusion Injury RGD PMID:18539378, PMID:19628223, PMID:22571266 RGD:7247641, RGD:7247650, RGD:7247656 NCBI chr2A:31,356,011...31,435,111
Ensembl chr2A:31,425,183...31,504,455
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 1:64,394,898...64,479,536
Ensembl chr 1:66,283,102...66,361,230
JBrowse link
G BMP7 bone morphogenetic protein 7 ISO associated with Kidney Reperfusion Injury;protein:increased expression:kidney RGD PMID:16284088 RGD:1601494 NCBI chr20:53,509,484...53,606,889
Ensembl chr20:54,788,974...54,885,021
JBrowse link
G CCT7 chaperonin containing TCP1 subunit 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31825490 NCBI chr2A:73,287,026...73,305,792
Ensembl chr2A:74,775,781...74,794,515
JBrowse link
G CIITA class II major histocompatibility complex transactivator ISO mRNA:increased expression:kidney RGD PMID:9422398 RGD:7242901 NCBI chr16:9,819,440...9,885,379
Ensembl chr16:11,041,434...11,090,485
JBrowse link
G FABP1 fatty acid binding protein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18368030 NCBI chr2A:87,256,032...87,303,505
Ensembl chr2A:89,165,315...89,170,448
JBrowse link
G GSR glutathione-disulfide reductase ISO protein:decreased activity:renal cortex: RGD PMID:12885594, PMID:17078987 RGD:7257555, RGD:7257573 NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557
JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 ISO protein:increased expression:kidney tubule, urine: RGD PMID:12081583 RGD:7245970 NCBI chr 5:152,429,337...152,459,800
Ensembl chr 5:158,413,073...158,442,481
JBrowse link
G NOG noggin ISO associated with Kidney Reperfusion Injury RGD PMID:16284088 RGD:1601494 NCBI chr17:50,669,186...50,671,081
Ensembl chr17:55,532,394...55,533,092
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:4358912, PMID:6254450 NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19834340 Ensembl chr22:45,218,364...45,302,970 JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:19917352 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
JBrowse link
G TEK TEK receptor tyrosine kinase ISO associated with Kidney Reperfusion Injury RGD PMID:16284088 RGD:1601494 NCBI chr 9:26,955,339...27,077,809
Ensembl chr 9:27,561,421...27,683,572
JBrowse link
acute pyelonephritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCR2 C-X-C motif chemokine receptor 2 susceptibility ISO DNA:polymorphism:3' utr:1208C>T (human) RGD PMID:22325052 RGD:7207860 NCBI chr2B:105,387,198...105,400,533
Ensembl chr2B:223,997,066...223,998,148
JBrowse link
Acute Tubulointerstitial Nephritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOA1 apolipoprotein A1 ISO RGD PMID:22659101 RGD:7241207 NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122
JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:22194975 RGD:7207900 NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
JBrowse link
G TLR4 toll like receptor 4 ISO RGD PMID:22194975 RGD:7207900 NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
JBrowse link
adenine phosphoribosyltransferase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APRT adenine phosphoribosyltransferase ISO OMIM NCBI chr16:69,522,628...69,525,138
Ensembl chr16:89,179,020...89,181,504
JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency ClinVar PMID:25741868, PMID:28492532 NCBI chr16:69,557,956...69,571,421
Ensembl chr16:89,183,950...89,217,036
JBrowse link
AIDS-Associated Nephropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGTR2 angiotensin II receptor type 2 ISO RGD PMID:2 RGD:1303381 NCBI chr  X:105,252,903...105,257,171
Ensembl chr  X:115,671,594...115,672,685
JBrowse link
G EGF epidermal growth factor ISO RGD PMID:19357719 RGD:6906909 NCBI chr 4:102,410,724...102,509,691
Ensembl chr 4:112,977,565...113,076,460
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO RGD PMID:23678040 RGD:7245474 NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
JBrowse link
G MYH9 myosin heavy chain 9 ISO protein:decreased expression:glomerulus RGD PMID:22313957 RGD:6903274 NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618
JBrowse link
G NOTCH4 notch receptor 4 ISO protein: increased expression: kidney RGD PMID:20706108 RGD:6480788 NCBI chr 6:31,842,233...31,871,412
Ensembl chr 6:32,722,112...32,750,978
JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin treatment ISO RGD PMID:17229913, PMID:19188342 RGD:38596324, RGD:38599164 NCBI chr19:32,742,802...32,770,600
Ensembl chr19:41,492,444...41,518,471
JBrowse link
Albuminuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme treatment ISO associated with Diabetic Nephropathies
associated with Diabetes Mellitus, Type 1;protein:increased activity:serum (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:1336356, PMID:16902320, PMID:23733546 RGD:12879427, RGD:7829770 NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
JBrowse link
G ADM adrenomedullin ISO associated with Hypertension RGD PMID:19424162 RGD:2313311 NCBI chr11:10,437,712...10,440,053
Ensembl chr11:10,165,418...10,167,842
JBrowse link
G AGER advanced glycosylation end-product specific receptor treatment ISO associated with Diabetes Mellitus, Type 2; protein:increased expression:serum (human)
associated with Diabetic Nephropathies
associated with Diabetes Mellitus, Experimental
RGD PMID:20627935, PMID:21607631, PMID:21796806 RGD:7243944, RGD:7244135, RGD:7244184 NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
JBrowse link
G AGT angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:12414515, PMID:18679781, PMID:21896938 NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
JBrowse link
G AKR1B1 aldo-keto reductase family 1 member B ISO associated with Diabetes Mellitus, Experimental;human gene in a rat model RGD PMID:12166624 RGD:8548813 NCBI chr 7:126,400,861...126,417,756
Ensembl chr 7:138,912,953...138,924,095
JBrowse link
G ALB albumin ISO associated with hypertension
associated with Diabetes Mellitus, Insulin-Dependent
RGD PMID:15102963, PMID:19414946 RGD:1601157, RGD:2306884 NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418
JBrowse link
G ALOX12 arachidonate 12-lipoxygenase, 12S type ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphism:cds:p.R261Q (human) RGD PMID:18640486 RGD:2313875 NCBI chr17:7,026,839...7,041,598
Ensembl chr17:7,014,591...7,029,602
JBrowse link
G B2M beta-2-microglobulin ISO associated with HIV infections;protein:increased expression:urine RGD PMID:18469311 RGD:6482713 NCBI chr15:23,668,108...23,674,791
Ensembl chr15:41,836,345...41,842,991
JBrowse link
G CASP1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr11:99,965,964...99,975,640
Ensembl chr11:103,448,497...103,458,149
JBrowse link
G CASR calcium sensing receptor ISO associated with Uremia RGD PMID:19188910 RGD:7205661 NCBI chr 3:119,278,071...119,383,901
Ensembl chr 3:126,252,765...126,285,268
JBrowse link
G CD38 CD38 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21992601 NCBI chr 4:10,228,803...10,295,129
Ensembl chr 4:15,525,835...15,587,677
JBrowse link
G CIITA class II major histocompatibility complex transactivator ISO DNA:polymorphism:promoter:-168A>G, in non-diabetic subjects RGD PMID:17183695 RGD:5491201 NCBI chr16:9,819,440...9,885,379
Ensembl chr16:11,041,434...11,090,485
JBrowse link
G CP ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21752484 NCBI chr 3:146,180,527...146,239,833
Ensembl chr 3:153,764,830...153,817,544
JBrowse link
G CRP C-reactive protein severity ISO associated with Anemia, Sickle Cell; protein:increased expression:serum
associated with hypertension
RGD PMID:20016210, PMID:20710104 RGD:6907441, RGD:6909147 NCBI chr 1:135,062,102...135,064,402 JBrowse link
G CSF1 colony stimulating factor 1 treatment ISO associated with Hypercholesterolemia and Diabetes Mellitus, Experimental RGD PMID:8573750 RGD:7257591 NCBI chr 1:112,555,755...112,575,894
Ensembl chr 1:127,764,916...127,781,943
JBrowse link
G CST3 cystatin C ISO associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human) RGD PMID:19596469 RGD:2314309 NCBI chr20:23,583,043...23,587,399
Ensembl chr20:23,935,942...23,940,425
JBrowse link
G CTSB cathepsin B ISO associated with Hypertension RGD PMID:19023196 RGD:2315726 NCBI chr 8:7,333,498...7,359,264 JBrowse link
G CTSL cathepsin L ISO associated with Hypertension RGD PMID:19023196 RGD:2315726 NCBI chr 9:58,851,899...58,857,170
Ensembl chr 9:86,903,006...86,908,303
JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 ISO RGD PMID:15939810 RGD:2307307 NCBI chr 8:139,584,976...139,592,466
Ensembl chr 8:142,629,127...142,634,654
JBrowse link
G DRD1 dopamine receptor D1 ISO DNA:polymorphism:5' utr:g.-94G>A rs5326 (human) RGD PMID:17353515 RGD:7248452 NCBI chr 5:170,787,115...170,792,383
Ensembl chr 5:177,688,917...177,690,257
JBrowse link
G EDN1 endothelin 1 ISO protein:increased expression:renal papilla (rat) RGD PMID:20666571 RGD:4144838 NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545
JBrowse link
G EPO erythropoietin ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:urine,serum RGD PMID:16921186 RGD:2313841 NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974
JBrowse link
G F7 coagulation factor VII severity
no_association
ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human)
associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human)
RGD PMID:8250495, PMID:8458188, PMID:9187410 RGD:2312406, RGD:2312407, RGD:2312410 NCBI chr13:94,246,694...94,261,133
Ensembl chr13:113,315,868...113,329,995
JBrowse link
G FBN1 fibrillin 1 ISO associated with Hypertension RGD PMID:16380460 RGD:7365080 NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111
JBrowse link
G GGT1 gamma-glutamyltransferase 1 ISO associated with Diabetes Mellitus; protein:increased activity:serum RGD PMID:15890893 RGD:2315606 NCBI chr22:5,424,334...5,469,705 JBrowse link
G GNAQ G protein subunit alpha q ISO CTD Direct Evidence: marker/mechanism CTD PMID:16267159 NCBI chr 9:46,816,409...47,129,116
Ensembl chr 9:76,575,815...76,773,849
JBrowse link
G GPC5 glypican 5 ISO CTD Direct Evidence: therapeutic CTD PMID:21441931 NCBI chr13:72,588,968...74,051,961
Ensembl chr13:91,755,623...93,205,610
JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 ISO associated with Anemia, Sickle Cell;protein:increased expression:urine: RGD PMID:21630304 RGD:7245982 NCBI chr 5:152,429,337...152,459,800
Ensembl chr 5:158,413,073...158,442,481
JBrowse link
G IGF1 insulin like growth factor 1 susceptibility ISO RGD PMID:16645019 RGD:1598420 NCBI chr12:99,986,887...100,066,773 JBrowse link
G IL1B interleukin 1 beta ISO RGD PMID:23103566 RGD:7175089 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17167242 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G INS insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:9861226, PMID:29420703 NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666
JBrowse link
G LEPR leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17065336, PMID:20175764, PMID:23159718, PMID:28130181, PMID:29988851 NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768
JBrowse link
G LIPC lipase C, hepatic type ISO associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma (human) RGD PMID:8666151 RGD:2308836 NCBI chr15:37,363,507...37,537,723
Ensembl chr15:55,814,017...55,847,005
JBrowse link
G LRP2 LDL receptor related protein 2 ISO RGD PMID:12121845 RGD:1641839 NCBI chr2B:56,407,871...56,640,471
Ensembl chr2B:173,873,767...174,103,697
JBrowse link
G MMP9 matrix metallopeptidase 9 onset ISO associated with Diabetes Mellitus, Type 2; protein:increased expression:plasma (human) RGD PMID:9774113 RGD:7207214 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO associated with Diabetes Mellitus, Type 2; DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) RGD PMID:22554825 RGD:6893631 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
JBrowse link
G MYH9 myosin heavy chain 9 ISO associated with hypertension;DNA:SNPs: : RGD PMID:19153477 RGD:6903241 NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618
JBrowse link
G NCK1 NCK adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr 3:133,902,463...133,990,414
Ensembl chr 3:141,427,870...141,451,444
JBrowse link
G NCK2 NCK adaptor protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr2A:95,939,197...96,089,163
Ensembl chr2A:106,898,547...106,976,363
JBrowse link
G NPHS2 NPHS2 stomatin family member, podocin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15684566 NCBI chr 1:155,038,753...155,064,332 JBrowse link
G PDPN podoplanin ISO RGD PMID:18199599 RGD:2292240 NCBI chr 1:12,728,569...12,759,781
Ensembl chr 1:13,728,233...13,759,584
JBrowse link
G PON1 paraoxonase 1 ISO DNA:polymorphisms:promoter, cds (human) RGD PMID:16949520 RGD:2313272 NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO associated with Diabetes Mellitus, Type 2; DNA:snp:cds:g.75919G>A rs8192678 (human) RGD PMID:22684233 RGD:7242025 NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17890881 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
JBrowse link
G PTH parathyroid hormone ISO associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human) RGD PMID:23066118 RGD:7242730 NCBI chr11:13,653,777...13,657,901
Ensembl chr11:13,347,838...13,351,802
JBrowse link
G PYCARD PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr16:23,764,386...23,765,732
Ensembl chr16:31,571,363...31,573,828
JBrowse link
G RAB38 RAB38, member RAS oncogene family ISO RGD PMID:15758045 RGD:1357409 NCBI chr11:83,121,858...83,183,698
Ensembl chr11:86,710,358...86,773,142
JBrowse link
G REN renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12414515, PMID:18679781 NCBI chr 1:179,757,653...179,769,530
Ensembl chr 1:184,046,117...184,057,393
JBrowse link
G RETN resistin ISO associated with Hypertension;protein:increased expression:blood RGD PMID:20203628 RGD:7207150 NCBI chr19:6,958,536...6,960,032
Ensembl chr19:7,812,942...7,814,909
JBrowse link
G SERPINE1 serpin family E member 1 ISO associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human) RGD PMID:9201602 RGD:8547710 NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
JBrowse link
G SERPINF1 serpin family F member 1 treatment ISO associated with Diabetes Mellitus, Experimental; human gene in a rat model RGD PMID:16731830 RGD:8554875 NCBI chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568
JBrowse link
G SH2B3 SH2B adaptor protein 3 ISO RGD PMID:25776069 RGD:13442483 NCBI chr12:108,977,344...109,024,029 JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17942768 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:18443355 RGD:6903862 NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17167242 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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 4:114,079,395...114,153,014
Ensembl chr 4:125,217,086...125,289,014
JBrowse link
G TRPC5 transient receptor potential cation channel subfamily C member 5 ISO RGD PMID:24231357 RGD:10043830 NCBI chr  X:100,886,122...101,191,425
Ensembl chr  X:111,346,804...111,648,201
JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 ISO associated with Hypertension;mRNA:decreased expression:kidney cortex RGD PMID:19887786, PMID:21839714 RGD:7247445, RGD:7247603 NCBI chr11:96,414,498...96,551,670
Ensembl chr11:99,919,410...100,050,685
JBrowse link
G TSLP thymic stromal lymphopoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17686814 NCBI chr 5:106,440,136...106,446,849
Ensembl chr 5:112,242,490...112,250,130
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma RGD PMID:18299691 RGD:2312766 NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732
JBrowse link
Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A3 collagen type IV alpha 3 chain susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alport syndrome
ClinVar Annotator: match by term: Alport syndrome, autosomal dominant
DNA:deletion, nonsense mutations
CTD
ClinVar
RGD
PMID:7987301, PMID:11134255, PMID:12028435, PMID:12631109, PMID:14582039, PMID:14871398, PMID:15880327, PMID:15954103, PMID:17216251, PMID:18385178, PMID:19525337, PMID:20847057, PMID:21862460, PMID:22887978, PMID:23967202, PMID:24033266, PMID:24052634, PMID:24854265, PMID:25229338, PMID:25307543, PMID:25407002, PMID:25514610, PMID:25596306, PMID:25741868, PMID:25888712, PMID:26346198, PMID:26467025, PMID:26795916, PMID:26809805, PMID:26934356, PMID:27391953, PMID:27627812, PMID:27859054, PMID:28492532, PMID:28632965 RGD:1600924 NCBI chr2B:114,410,703...114,559,336
Ensembl chr2B:233,294,783...233,371,021
JBrowse link
G COL4A4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Alport syndrome
ClinVar Annotator: match by term: Alport syndrome, autosomal recessive
ClinVar PMID:1721625, PMID:9792860, PMID:11134255, PMID:11685592, PMID:11961012, PMID:12028435, PMID:12631110, PMID:14582039, PMID:14871398, PMID:15618242, PMID:15880327, PMID:17216251, PMID:17396119, PMID:19129241, PMID:19675380, PMID:20029656, PMID:22887978, PMID:23349334, PMID:23967202, PMID:24033266, PMID:24130771, PMID:25381091, PMID:25514610, PMID:25575550, PMID:25741868, PMID:25755845, PMID:26467025, PMID:26809805, PMID:26934356, PMID:27884173, PMID:28059119, PMID:28492532, PMID:28780565, PMID:29098738 NCBI chr2B:114,227,135...114,410,564
Ensembl chr2B:233,065,678...233,205,892
JBrowse link
G COL4A5 collagen type IV alpha 5 chain ISO Alport Syndrome, OMIM:301050, DNA:deletion:exons
ClinVar Annotator: match by term: Alport syndrome
RGD
ClinVar
PMID:2349482, PMID:8651292, PMID:9848783, PMID:10563487, PMID:11223851, PMID:18083113, PMID:19919694, PMID:23572034, PMID:25741868, PMID:26467025, PMID:27627812, PMID:28492532 RGD:1600687 NCBI chr  X:97,538,978...97,797,019
Ensembl chr  X:108,008,689...108,166,095
JBrowse link
G IL1B interleukin 1 beta ISO RGD PMID:22937108 RGD:7175090 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G MMP12 matrix metallopeptidase 12 ISO RGD PMID:16816359 RGD:7241212 NCBI chr11:97,809,644...97,822,063
Ensembl chr11:101,294,475...101,306,762
JBrowse link
G MMP3 matrix metallopeptidase 3 ISO protein:increased expression:kidney RGD PMID:16509766 RGD:7241252 NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354
JBrowse link
G MYH9 myosin heavy chain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10973259 NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618
JBrowse link
amelogenesis imperfecta type 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM20A FAM20A golgi associated secretory pathway pseudokinase ISO OMIM NCBI chr17:62,474,317...62,537,800
Ensembl chr17:67,864,331...67,927,128
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Enamel-renal syndrome
ClinVar Annotator: match by term: Amelogenesis imperfecta and gingival fibromatosis syndrome
ClinVar PMID:21990045, PMID:23434854, PMID:23468644, PMID:24196488, PMID:25741868 NCBI chr17:62,448,718...62,488,493
Ensembl chr17:67,838,484...67,877,943
JBrowse link
AMME complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A6 collagen type IV alpha 6 chain ISO OMIM NCBI chr  X:97,254,306...97,539,473
Ensembl chr  X:107,625,718...107,908,363
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:7550093, PMID:21282555 RGD:11039051, RGD:5129185 NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO protein:increased expression:kidney RGD PMID:21282555 RGD:5129185 NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380
JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO mRNA, protein:increased expression:kidney RGD PMID:12234300 RGD:1579984 NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO mRNA, protein:decreased expression:kidney RGD PMID:12234300 RGD:1579984 NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
JBrowse link
G CCL17 C-C motif chemokine ligand 17 ISO mRNA:increased expression:glomerulus RGD PMID:20071465 RGD:4145614 NCBI chr16:37,678,518...37,689,350
Ensembl chr16:56,819,949...56,822,131
JBrowse link
G CCL2 C-C motif chemokine ligand 2 treatment ISO mRNA:increased expression:glomerulus RGD PMID:17898087, PMID:20071465, PMID:21894146 RGD:2307059, RGD:4145614, RGD:6218988 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CCL22 C-C motif chemokine ligand 22 ISO mRNA, protein:increased expression:glomerulus RGD PMID:12651599 RGD:2306306 NCBI chr16:37,631,861...37,640,208
Ensembl chr16:56,765,367...56,771,213
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:glomerulus RGD PMID:17898087 RGD:2307059 NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
JBrowse link
G CD274 CD274 molecule treatment ISO RGD PMID:21965585 RGD:7248671 NCBI chr 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402
JBrowse link
G CD40 CD40 molecule ISO RGD PMID:15210767 RGD:7248442 NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:15458437 RGD:5508170 NCBI chr  X:125,776,138...125,788,820
Ensembl chr  X:136,042,849...136,058,202
JBrowse link
G CD80 CD80 molecule ISO RGD PMID:10712436 RGD:6902936 NCBI chr 3:116,646,590...116,683,725
Ensembl chr 3:123,559,559...123,594,870
JBrowse link
G CFB complement factor B ISO RGD PMID:22492944 RGD:7242700 NCBI chr 6:31,606,716...31,612,782 JBrowse link
G CLU clusterin ISO protein:increased expression:urine RGD PMID:23791361 RGD:9068422 NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523
JBrowse link
G CSF1 colony stimulating factor 1 treatment ISO RGD PMID:19242505 RGD:7257569 NCBI chr 1:112,555,755...112,575,894
Ensembl chr 1:127,764,916...127,781,943
JBrowse link
G CSF1R colony stimulating factor 1 receptor treatment ISO RGD PMID:19242505 RGD:7257569 NCBI chr 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 treatment ISO RGD PMID:8206086, PMID:10712436 RGD:11352257, RGD:6902936 NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO mRNA, protein:increased expression:glomerulus RGD PMID:19590241 RGD:4891946 NCBI chr16:37,646,447...37,659,078
Ensembl chr16:56,779,065...56,791,760
JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO mRNA, protein:increased expression:glomerulus RGD PMID:19590241 RGD:4891946 NCBI chr 3:39,158,346...39,176,604
Ensembl chr 3:39,440,955...39,457,219
JBrowse link
G CXCL12 C-X-C motif chemokine ligand 12 ISO mRNA:increased expression:glomerulus RGD PMID:17557270 RGD:2306579 NCBI chr10:41,296,975...41,384,864 JBrowse link
G DUSP1 dual specificity phosphatase 1 ISO mRNA:increased expression:glomerulus RGD PMID:8587253 RGD:633769 NCBI chr 5:168,121,536...168,124,671
Ensembl chr 5:175,032,803...175,035,960
JBrowse link
G GP6 glycoprotein VI platelet ISO RGD PMID:20651232 RGD:7242710 NCBI chr19:52,051,138...52,071,673
Ensembl chr19:60,746,578...60,770,643
JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:23826305 RGD:7365004 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
JBrowse link
G IL17A interleukin 17A treatment ISO RGD PMID:23826305 RGD:7365004 NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074
JBrowse link
G IL18 interleukin 18 ISO RGD PMID:22046355 RGD:6893447 NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
JBrowse link
G IL1B interleukin 1 beta ISO mRNA, protein:increased expression:kidney
mRNA:increased expression:kidney (mouse)
RGD PMID:9198037, PMID:22046355 RGD:6893447, RGD:7401232 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G IL4 interleukin 4 ISO RGD PMID:9350645, PMID:17898087 RGD:2307059, RGD:2317673 NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
JBrowse link
G ITGA4 integrin subunit alpha 4 treatment ISO RGD PMID:7679412, PMID:9032136 RGD:2308810, RGD:9698425 NCBI chr2B:68,719,376...68,802,488
Ensembl chr2B:186,530,187...186,612,203
JBrowse link
G LOC100991079 interleukin-1 receptor antagonist protein ISO RGD PMID:20071465 RGD:4145614 NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
JBrowse link
G LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain ISO RGD PMID:21569485 RGD:5147561 NCBI chr 6:32,648,780...32,659,613
Ensembl chr 6:33,763,566...33,774,387
JBrowse link
G MAPK14 mitogen-activated protein kinase 14 ISO RGD PMID:21894146 RGD:6218988 NCBI chr 6:35,586,847...35,683,041
Ensembl chr 6:36,788,233...36,871,114
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 ISO RGD PMID:21894146 RGD:6218988 NCBI chr10:45,806,748...45,936,362 JBrowse link
G MIF macrophage migration inhibitory factor ISO RGD PMID:10780884 RGD:1642011 NCBI chr22:4,646,986...4,647,831
Ensembl chr22:22,730,807...22,732,009
JBrowse link
G MMP12 matrix metallopeptidase 12 ISO RGD PMID:21894146 RGD:6218988 NCBI chr11:97,809,644...97,822,063
Ensembl chr11:101,294,475...101,306,762
JBrowse link
G MMP14 matrix metallopeptidase 14 ISO mRNA:increased expression:kidney, macrophage RGD PMID:10878552 RGD:2314954 NCBI chr14:3,654,125...3,665,158
Ensembl chr14:21,753,305...21,764,058
JBrowse link
G NOS2 nitric oxide synthase 2 ISO RGD PMID:21894146 RGD:6218988 NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
JBrowse link
G NPPB natriuretic peptide B ISO RGD PMID:11729234 RGD:7248605 NCBI chr 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995
JBrowse link
G PDCD1 programmed cell death 1 treatment ISO RGD PMID:21965585 RGD:7248671 NCBI chr2B:129,111,509...129,121,127 JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO RGD PMID:17888025 RGD:5563035 Ensembl chr22:45,218,364...45,302,970 JBrowse link
G PTK2B protein tyrosine kinase 2 beta ISO protein:increased expression:glomerulus RGD PMID:11774117 RGD:729912 NCBI chr 8:26,580,855...26,729,378
Ensembl chr 8:23,869,825...23,932,474
JBrowse link
G RAPGEF1 Rap guanine nucleotide exchange factor 1 ISO protein:increased expression:renal glomerulus RGD PMID:18784646 RGD:11534983 NCBI chr 9:102,698,970...102,861,482
Ensembl chr 9:131,337,001...131,495,664
JBrowse link
G SELP selectin P ISO RGD PMID:21894146 RGD:6218988 NCBI chr 1:145,071,094...145,112,851
Ensembl chr 1:148,793,677...148,834,701
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 5:172,685,862...172,700,440
Ensembl chr 5:179,748,492...179,762,975
JBrowse link
G SLIT2 slit guidance ligand 2 ISO mRNA:decreased expression:kidney, glomerulus RGD PMID:15215188 RGD:2316132 NCBI chr 4:14,654,448...15,023,708
Ensembl chr 4:20,158,952...20,314,656
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:20504883 RGD:6903276 NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935
JBrowse link
G SYK spleen associated tyrosine kinase ISO RGD PMID:21894146 RGD:6218988 NCBI chr 9:61,859,767...61,956,619
Ensembl chr 9:89,959,599...90,056,101
JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:21894146 RGD:6218988 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO protein:increased expression:urine, serum: RGD PMID:23460853 RGD:7241232 NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732
JBrowse link
G XCL1 X-C motif chemokine ligand 1 ISO mRNA:increased expression:glomerulus RGD PMID:9717977 RGD:8693304 NCBI chr 1:143,837,578...144,068,261
Ensembl chr 1:147,785,654...147,790,587
JBrowse link
anuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGT angiotensinogen ISO CTD Direct Evidence: therapeutic CTD PMID:8527259 NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
JBrowse link
G ALB albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6734075 NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418
JBrowse link
G PLAU plasminogen activator, urokinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8225663 NCBI chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136
JBrowse link
G PRKAB1 protein kinase AMP-activated non-catalytic subunit beta 1 treatment ISO RGD PMID:27782167 RGD:39128183 NCBI chr12:117,246,691...117,260,465
Ensembl chr12:120,624,004...120,637,585
JBrowse link
ARC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190753 NCBI chr14:57,982,041...58,013,037
Ensembl chr14:77,183,185...77,213,382
JBrowse link
G VPS33B VPS33B late endosome and lysosome associated ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
CTD
ClinVar
PMID:25741868 NCBI chr15:69,691,717...69,715,617 JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 ClinVar PMID:25741868, PMID:31319225 NCBI chr14:57,982,041...58,013,037
Ensembl chr14:77,183,185...77,213,382
JBrowse link
G VPS33B VPS33B late endosome and lysosome associated ISO OMIM NCBI chr15:69,691,717...69,715,617 JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO OMIM NCBI chr14:57,982,041...58,013,037
Ensembl chr14:77,183,185...77,213,382
JBrowse link
atypical hemolytic-uremic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO protein:decreased activity:serum (human) RGD PMID:12640381 RGD:10449096 NCBI chr 9:104,541,051...104,582,574
Ensembl chr 9:133,156,761...133,193,707
JBrowse link
G BAAT bile acid-CoA:amino acid N-acyltransferase ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 ClinVar NCBI chr 9:72,568,002...72,593,179
Ensembl chr 9:100,563,040...100,586,189
JBrowse link
G C2 complement C2 ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar PMID:2249879, PMID:6308626, PMID:8181962, PMID:16518403, PMID:16936732, PMID:18806293, PMID:20108004, PMID:20513133, PMID:21541267, PMID:22440158, PMID:24033266, PMID:24652797, PMID:25741868 NCBI chr 6:31,590,135...31,606,368 JBrowse link
G C3 complement C3 susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutations: :p.F603V, p.R1042L, p.I1157T (human)
OMIM
ClinVar
RGD
CTD
PMID:1976733, PMID:14639503, PMID:17517971, PMID:17634448, PMID:18325906, PMID:18796626, PMID:19168221, PMID:20301541, PMID:20513133, PMID:20595690, PMID:23314101, PMID:23431077, PMID:24036949, PMID:24036950, PMID:24036952, PMID:24736606, PMID:24845532, PMID:25608561, PMID:25741868, PMID:25951460, PMID:26613027, PMID:28492532 RGD:11040768, RGD:7364995 NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
JBrowse link
G C3AR1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 ClinVar NCBI chr12:8,178,064...8,186,206
Ensembl chr12:8,220,933...8,222,381
JBrowse link
G CD46 CD46 molecule susceptibility
severity
ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
protein:increased expression:peripheral blood mononuclear cell (human)
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:multiple (human)
DNA:missense mutations:cds:p.R69W, p.A304V (human)
DNA:snp:intron:c.IVS8+23T>G (rs2724374) (human)
OMIM
ClinVar
RGD
CTD
PMID:270646, PMID:3480783, PMID:9551389, PMID:10528197, PMID:14566051, PMID:14615110, PMID:16353080, PMID:16621965, PMID:16762990, PMID:16882452, PMID:17089378, PMID:17914026, PMID:20513133, PMID:20595690, PMID:21706448, PMID:23431077, PMID:23731345, PMID:24033266, PMID:24161037, PMID:24247905, PMID:24944786, PMID:25381125, PMID:25525159, PMID:25741868, PMID:25899302, PMID:26054645, PMID:26307634, PMID:26559391, PMID:28056875, PMID:28492532 RGD:11038684, RGD:11040768, RGD:11352768, RGD:11352810 NCBI chr 1:183,330,423...183,373,916
Ensembl chr 1:188,031,758...188,182,046
JBrowse link
G CFB complement factor B susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
DNA, protein:mutations:cds: c.858C>G, F286L, c.967A>G, K323E (human)
DNA:nonsense mutations: :multiple
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
RGD
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 RGD:11040768, RGD:7242707 NCBI chr 6:31,606,716...31,612,782 JBrowse link
G CFH complement factor H susceptibility ISO ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
CTD Direct Evidence: marker/mechanism
DNA:SNPs,Haplotype::
DNA:deletion:Cds:
DNA:nonsense mutations, missense mutations, splice-site mutation: :multiple
DNA:missense mutation
OMIM
ClinVar
CTD
RGD
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:17517971, PMID:17947292, PMID:18252712, PMID:18268093, PMID:18557729, PMID:19190809, PMID:19259132, PMID:19297022, PMID:20513133, PMID:21415311, PMID:21909106, PMID:22019782, PMID:22171659, PMID:22223606, PMID:22389686, PMID:22403278, PMID:22456601, PMID:23243267, PMID:23852337, PMID:24036949, PMID:24498017, PMID:25037630, PMID:25741868, PMID:25814826, PMID:25880396, PMID:26559391, PMID:28492532 RGD:11040768, RGD:11041162, RGD:11041172, RGD:1599886, RGD:7364995 NCBI chr 1:172,155,882...172,251,632
Ensembl chr 1:176,455,247...176,525,521
JBrowse link
G CFHR1 complement factor H related 1 susceptibility ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
CTD Direct Evidence: marker/mechanism
DNA:deletion
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to
OMIM
ClinVar
CTD
RGD
PMID:16998489, PMID:17367211, PMID:18006700, PMID:20843825, PMID:23243267 RGD:11041162 NCBI chr 1:172,267,658...172,337,130 JBrowse link
G CFHR3 complement factor H related 3 susceptibility ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:16998489, PMID:17367211, PMID:18006700, PMID:20843825 NCBI chr 1:172,355,204...172,389,914 JBrowse link
G CFI complement factor I susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:15173250, PMID:16621965, PMID:18557729, PMID:18825487, PMID:19877009, PMID:20016463, PMID:20106822, PMID:20203157, PMID:20513133, PMID:20595690, PMID:22710145, PMID:23307876, PMID:23314101, PMID:23431077, PMID:23685748, PMID:23787556, PMID:24033266, PMID:24034049, PMID:24036952, PMID:24161037, PMID:25037630, PMID:25135378, PMID:25741868, PMID:25758434, PMID:27268256, PMID:28282489, PMID:28492532 RGD:6906889 NCBI chr 4:102,236,868...102,311,359
Ensembl chr 4:112,804,645...112,865,581
JBrowse link
G DGKE diacylglycerol kinase epsilon ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7
ClinVar Annotator: match by term: atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD
ClinVar
PMID:23542698, PMID:24511134, PMID:24747643, PMID:25741868, PMID:29590070, PMID:30311386 NCBI chr17:50,912,079...50,946,655
Ensembl chr17:55,773,896...55,802,485
JBrowse link
G THBD thrombomodulin susceptibility
no_association
severity
ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
DNA:SNPs:5' utr, 3' utr:multiple
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:CDS:multiple
OMIM
ClinVar
RGD
CTD
PMID:7811989, PMID:10460600, PMID:11986219, PMID:12139752, PMID:17677000, PMID:19625716, PMID:20595690, PMID:23332921, PMID:24933457, PMID:25135378, PMID:25741868, PMID:28492532 RGD:11038684, RGD:11038691 NCBI chr20:22,992,341...22,996,415
Ensembl chr20:23,345,917...23,347,812
JBrowse link
atypical teratoid rhabdoid tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALK ALK receptor tyrosine kinase ISO ClinVar Annotator: match by term: Atypical teratoid rhabdoid tumor ClinVar PMID:25741868, PMID:28492532 NCBI chr2A:29,196,195...29,930,062
Ensembl chr2A:29,276,041...30,006,735
JBrowse link
G ATRX ATRX chromatin remodeler ISO ClinVar Annotator: match by term: Atypical teratoid rhabdoid tumor ClinVar PMID:7697714, PMID:8968741, PMID:18414213, PMID:22995991, PMID:24082139, PMID:24728327, PMID:25741868, PMID:26467025, PMID:28293299, PMID:28492530, PMID:28492532, PMID:29304373, PMID:29602769, PMID:29910053 NCBI chr  X:66,682,968...66,969,421
Ensembl chr  X:76,795,574...77,083,486
JBrowse link
G DERL3 derlin 3 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 ClinVar PMID:28492532 NCBI chr22:4,589,448...4,594,628
Ensembl chr22:22,673,908...22,678,444
JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO OMIM NCBI chr22:4,542,764...4,589,461
Ensembl chr22:22,627,982...22,673,921
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Atypical teratoid rhabdoid tumor ClinVar PMID:1565143, PMID:1591732, PMID:7565304, PMID:7783166, PMID:8550239, PMID:8718514, PMID:9218725, PMID:9242456, PMID:9364015, PMID:9667734, PMID:10519380, PMID:10922393, PMID:11370630, PMID:12826609, PMID:12885464, PMID:12917626, PMID:15722483, PMID:15925506, PMID:15951970, PMID:16401470, PMID:16494995, PMID:16551709, PMID:17015838, PMID:17311302, PMID:17606709, PMID:18511570, PMID:20128691, PMID:20522432, PMID:21343334, PMID:21761402, PMID:23538418, PMID:24033266, PMID:24122735, PMID:24835218, PMID:25157968, PMID:25741868, PMID:26205489, PMID:26225655, PMID:26619011, PMID:26786923, PMID:27621308, PMID:28492532 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
JBrowse link
Autoimmune Interstitial Lung, Joint, and Kidney Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COPA COPI coat complex subunit alpha ISO OMIM NCBI chr 1:135,643,677...135,697,584
Ensembl chr 1:139,564,084...139,618,520
JBrowse link
autosomal dominant Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A3 collagen type IV alpha 3 chain ISO OMIM NCBI chr2B:114,410,703...114,559,336
Ensembl chr2B:233,294,783...233,371,021
JBrowse link
G COL4A4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Alport syndrome, autosomal dominant
ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant
ClinVar PMID:9792860, PMID:11961012, PMID:12631110, PMID:12748344, PMID:15618242, PMID:19129241, PMID:21897443, PMID:24033266, PMID:24052634, PMID:24633401, PMID:25525159, PMID:25596306, PMID:25741868, PMID:26467025, PMID:26809805, PMID:28492532 NCBI chr2B:114,227,135...114,410,564
Ensembl chr2B:233,065,678...233,205,892
JBrowse link
G MYH9 myosin heavy chain 9 ISO DNA:missense mutation:exon:4270G>C,D1424H (human) RGD PMID:12500226 RGD:6902925 NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618
JBrowse link
Autosomal Dominant Hypocalcemia, with Bartter Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASR calcium sensing receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1
ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome
CTD
ClinVar
PMID:11152759, PMID:12107202, PMID:12191970, PMID:12241879, PMID:15005845, PMID:17048213, PMID:25741868 NCBI chr 3:119,278,071...119,383,901
Ensembl chr 3:126,252,765...126,285,268
JBrowse link
autosomal dominant hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF23 fibroblast growth factor 23 ISO OMIM NCBI chr12:4,479,116...4,488,797
Ensembl chr12:4,400,802...4,412,000
JBrowse link
autosomal dominant polycystic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:80,379,108...80,446,641
Ensembl chr 4:91,101,321...91,170,157
JBrowse link
G ANGPT2 angiopoietin 2 ISO protein:increased expression:bile duct (rat) RGD PMID:16628643 RGD:2314213 NCBI chr 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915
JBrowse link
G ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12089381 NCBI chr 9:69,818,669...69,886,618
Ensembl chr 9:97,941,935...98,005,795
JBrowse link
G BRD4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25877301 NCBI chr19:14,768,239...14,805,770
Ensembl chr19:15,754,930...15,789,600
JBrowse link
G BRICD5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr16:1,067,543...1,069,836
Ensembl chr16:2,310,660...2,312,995
JBrowse link
G C9 complement C9 disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr 5:71,011,961...71,090,243
Ensembl chr 5:76,051,911...76,130,725
JBrowse link
G CASKIN1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr16:1,035,826...1,055,005 JBrowse link
G CD14 CD14 molecule disease_progression ISO protein:altered localization:kidney,urine RGD PMID:20555320 RGD:7204130 NCBI chr 5:135,996,265...135,997,909
Ensembl chr 5:142,113,082...142,118,966
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:decreased expression:kidney RGD PMID:17714589 RGD:2289666 NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
JBrowse link
G CFB complement factor B disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr 6:31,606,716...31,612,782 JBrowse link
G DMP1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:79,943,709...79,957,430
Ensembl chr 4:90,675,812...90,682,314
JBrowse link
G DNASE1L2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr16:1,093,669...1,096,123
Ensembl chr16:2,336,768...2,338,391
JBrowse link
G DSPP dentin sialophosphoprotein ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:79,903,923...79,909,836 JBrowse link
G E4F1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr16:1,080,205...1,092,996
Ensembl chr16:2,323,461...2,335,695
JBrowse link
G EDN1 endothelin 1 ISO mRNA, protein:increased expression:kidney (human) RGD PMID:12629276 RGD:4144854 NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545
JBrowse link
G FAM13A family with sequence similarity 13 member A ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:81,015,773...81,400,333
Ensembl chr 4:91,739,953...92,067,415
JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit ISO protein: increased expression: kidney RGD PMID:16049073 RGD:7242198 NCBI chr14:55,832,570...55,835,984
Ensembl chr14:74,676,316...74,679,766
JBrowse link
G GANAB glucosidase II alpha subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant
CTD
ClinVar
NCBI chr11:57,982,393...58,003,871
Ensembl chr11:61,336,487...61,357,908
JBrowse link
G GPBAR1 G protein-coupled bile acid receptor 1 ISO mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr2B:105,520,364...105,523,229
Ensembl chr2B:224,120,127...224,121,119
JBrowse link
G GPRIN3 GPRIN family member 3 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:81,530,662...81,597,530
Ensembl chr 4:92,257,125...92,259,455
JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 ISO protein:increased expression:kidney: RGD PMID:12388382 RGD:7245969 NCBI chr 5:152,429,337...152,459,800
Ensembl chr 5:158,413,073...158,442,481
JBrowse link
G HERC3 HECT and RLD domain containing E3 ubiquitin protein ligase 3 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:80,882,236...80,998,111 JBrowse link
G HERC5 HECT and RLD domain containing E3 ubiquitin protein ligase 5 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:80,747,400...80,795,722
Ensembl chr 4:91,470,572...91,518,177
JBrowse link
G HERC6 HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:80,669,642...80,733,409
Ensembl chr 4:91,393,415...91,455,756
JBrowse link
G HSD17B11 hydroxysteroid 17-beta dehydrogenase 11 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:79,638,500...79,687,204
Ensembl chr 4:90,364,769...90,413,522
JBrowse link
G HSD17B13 hydroxysteroid 17-beta dehydrogenase 13 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:79,606,163...79,625,401
Ensembl chr 4:90,333,816...90,351,346
JBrowse link
G IBSP integrin binding sialoprotein ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:80,061,960...80,105,560
Ensembl chr 4:90,817,072...90,830,021
JBrowse link
G ITGA8 integrin subunit alpha 8 ISO mRNA:increased expression:kidney RGD PMID:18277079 RGD:7257723 NCBI chr10:15,838,320...16,045,206
Ensembl chr10:16,114,999...16,321,360
JBrowse link
G KLHL8 kelch like family member 8 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:79,462,540...79,522,547
Ensembl chr 4:90,190,302...90,225,284
JBrowse link
G LOC100972297 polycystin-1 severity ISO DNA:mutations:multiple
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant
DNA:mutations:exons, intron:multiple
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.R3277C (mouse)
RGD
ClinVar
CTD
PMID:7581371, PMID:8004675, PMID:8554072, PMID:9521593, PMID:10200984, PMID:10364515, PMID:10854095, PMID:10987650, PMID:11058904, PMID:11115377, PMID:11216660, PMID:11558899, PMID:11571556, PMID:11691639, PMID:11840199, PMID:11857740, PMID:11967008, PMID:12007219, PMID:12070253, PMID:12089381, PMID:12482949, PMID:12842373, PMID:15772804, PMID:16430766, PMID:17574468, PMID:17582161, PMID:18077784, PMID:18640754, PMID:18837007, PMID:19165178, PMID:19401297, PMID:19686598, PMID:20558538, PMID:20981092, PMID:21115670, PMID:22008521, PMID:22090377, PMID:22185115, PMID:22333914, PMID:22383692, PMID:22508176, PMID:22608885, PMID:23064367, PMID:23300259, PMID:23431072, PMID:23760289, PMID:24033266, PMID:24374109, PMID:24694054, PMID:25333066, PMID:25646624, PMID:25741868, PMID:25877301, PMID:26139440, PMID:26453610, PMID:26467025, PMID:26632257, PMID:26661679, PMID:27499327, PMID:27567292, PMID:27884173, PMID:27894351, PMID:28887310, PMID:30333007 RGD:1601399, RGD:7175279, RGD:7175280 NCBI chr16:604,927...1,697,831 JBrowse link
G LOC100973017 PIGY upstream reading frame ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:80,810,555...80,813,324
Ensembl chr 4:91,533,268...91,536,850
JBrowse link
G LOC100977490 ras-related protein Rab-26 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr16:1,006,847...1,012,263 JBrowse link
G LOC100991079 interleukin-1 receptor antagonist protein ISO protein:decreased expression:urine (human) RGD PMID:9090470 RGD:6909172 NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
JBrowse link
G LOC103784916 PIGY upstream reading frame ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:80,810,555...80,813,329 JBrowse link
G LRP2 LDL receptor related protein 2 ISO RGD PMID:11841627 RGD:1641842 NCBI chr2B:56,407,871...56,640,471
Ensembl chr2B:173,873,767...174,103,697
JBrowse link
G LRP5 LDL receptor related protein 5 susceptibility ISO DNA:missense mutation:cds:multiple mutations (human) RGD PMID:25920554 RGD:11553546 NCBI chr11:63,396,511...63,534,471
Ensembl chr11:66,735,246...66,839,817
JBrowse link
G MEPE matrix extracellular phosphoglycoprotein ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:80,125,612...80,139,539
Ensembl chr 4:90,838,938...90,864,332
JBrowse link
G MLST8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr16:1,063,534...1,067,706
Ensembl chr16:2,306,451...2,310,828
JBrowse link
G MMP1 matrix metallopeptidase 1 ISO protein:increased expression:serum (human) RGD PMID:10644865 RGD:7207194 NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:plasma (human) RGD PMID:10644865 RGD:7207194 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO RGD PMID:23195001 RGD:7245504 NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:kidney (mouse)
CTD
RGD
PMID:18356167, PMID:25877301 RGD:7207457 NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863
JBrowse link
G NAP1L5 nucleosome assembly protein 1 like 5 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:80,985,470...80,987,440 JBrowse link
G NUDT9 nudix hydrolase 9 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:79,718,294...79,755,238
Ensembl chr 4:90,444,772...90,480,786
JBrowse link
G PGP phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr16:1,070,291...1,073,123 JBrowse link
G PITX2 paired like homeodomain 2 ISO mRNA:increased expression:kidney RGD PMID:20926632 RGD:5131995 NCBI chr 4:103,112,624...103,137,356 JBrowse link
G PKD2 polycystin 2, transient receptor potential cation channel onset ISO DNA:mutations:multiple
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant
CTD Direct Evidence: marker/mechanism
RGD
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:21115670, PMID:21551026, PMID:22008521, PMID:22034641, PMID:22185115, PMID:22383692, PMID:22508176, PMID:22863349, PMID:22995991, PMID:23300259, PMID:23376035, PMID:24374109, PMID:24611717, PMID:24658975, PMID:24719335, PMID:24925719, PMID:25333066, PMID:25574838, PMID:25741868, PMID:25877301, PMID:26275819, PMID:26364947, PMID:26467025, PMID:26632257, PMID:26692149, PMID:27401137, PMID:27499327, PMID:27567292, PMID:27782177, PMID:27884173, PMID:27894351, PMID:28356211, PMID:28492532, PMID:28887310, PMID:29529603, PMID:30333007, PMID:30820006, PMID:30883612 RGD:7175273, RGD:7175279 NCBI chr 4:80,295,243...80,365,271
Ensembl chr 4:91,019,734...91,086,775
JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant
ClinVar PMID:11898128, PMID:11919560, PMID:12506140, PMID:12846734, PMID:12874454, PMID:15108277, PMID:15108281, PMID:15696446, PMID:15805161, PMID:16133180, PMID:16199545, PMID:16523049, PMID:19914852, PMID:19940839, PMID:19940939, PMID:20413436, PMID:21274727, PMID:25124979, PMID:25701400, PMID:25741868, PMID:26695994, PMID:27225849, PMID:28375157, PMID:28492532, PMID:29956005, PMID:30311386 NCBI chr 6:51,166,516...51,635,057
Ensembl chr 6:52,435,462...52,903,309
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:20210794 NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060
JBrowse link
G PPM1K protein phosphatase, Mg2+/Mn2+ dependent 1K ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:80,548,652...80,575,555
Ensembl chr 4:91,272,142...91,298,274
JBrowse link
G RPS6KB1 ribosomal protein S6 kinase B1 ISO protein:increased expression, increased activity:kidney RGD PMID:16221708 RGD:1643017 NCBI chr17:53,958,807...54,014,752
Ensembl chr17:58,799,069...58,853,653
JBrowse link
G SERPING1 serpin family G member 1 disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr11:52,838,502...52,855,781
Ensembl chr11:56,309,686...56,326,639
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 5:172,685,862...172,700,440
Ensembl chr 5:179,748,492...179,762,975
JBrowse link
G SNCA synuclein alpha ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:82,018,585...82,132,938
Ensembl chr 4:92,737,608...92,850,600
JBrowse link
G SPARCL1 SPARC like 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:79,769,085...79,825,430
Ensembl chr 4:90,498,810...90,521,665
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant RGD
ClinVar
PMID:20926632, PMID:25741868 RGD:5131995 NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935
JBrowse link
G TIGD2 tigger transposable element derived 2 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:81,400,473...81,403,842
Ensembl chr 4:92,122,501...92,127,090
JBrowse link
G TRAF7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr16:1,013,831...1,036,486
Ensembl chr16:2,266,194...2,279,031
JBrowse link
autosomal dominant pseudohypoaldosteronism type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUL3 cullin 3 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant
ClinVar Annotator: match by term: Pseudohypoaldosteronism type 1 autosomal dominant
ClinVar PMID:25741868, PMID:28492532 NCBI chr2B:111,714,533...111,827,080
Ensembl chr2B:230,289,195...230,378,991
JBrowse link
G KLHL3 kelch like family member 3 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 5:133,005,563...133,276,087
Ensembl chr 5:139,147,793...139,248,919
JBrowse link
G NR3C2 nuclear receptor subfamily 3 group C member 2 ISO OMIM NCBI chr 4:140,418,624...140,785,180
Ensembl chr 4:152,108,508...152,430,298
JBrowse link
G STX16 syntaxin 16 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar NCBI chr20:54,999,514...55,027,787
Ensembl chr20:56,271,484...56,299,929
JBrowse link
autosomal dominant Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WFS1 wolframin ER transmembrane glycoprotein ISO OMIM Ensembl chr 4:6,345,864...6,379,287 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 3:46,107,526...46,114,229
Ensembl chr 3:47,214,688...47,215,755
JBrowse link
G COL4A3 collagen type IV alpha 3 chain ISO OMIM NCBI chr2B:114,410,703...114,559,336
Ensembl chr2B:233,294,783...233,371,021
JBrowse link
G COL4A4 collagen type IV alpha 4 chain ISO OMIM NCBI chr2B:114,227,135...114,410,564
Ensembl chr2B:233,065,678...233,205,892
JBrowse link
autosomal recessive cutis laxa type IC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LTBP4 latent transforming growth factor beta binding protein 4 ISO OMIM NCBI chr19:37,637,509...37,674,791
Ensembl chr19:46,144,485...46,181,636
JBrowse link
autosomal recessive hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMP1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive ClinVar NCBI chr 4:79,943,709...79,957,430
Ensembl chr 4:90,675,812...90,682,314
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive ClinVar PMID:24033266, PMID:28492532 NCBI chr 6:129,591,858...129,673,000
Ensembl chr 6:133,698,640...133,783,644
JBrowse link
autosomal recessive osteopetrosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CA2 carbonic anhydrase 2 ISO OMIM NCBI chr 8:81,991,037...82,009,010
Ensembl chr 8:83,597,440...83,632,580
JBrowse link
autosomal recessive polycystic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme ISO mRNA:increased expression:kidney (rat) RGD PMID:20229187, PMID:20798958 RGD:12879406, RGD:2325220 NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO protein:increased serine phosphorylation:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756
JBrowse link
G AQP1 aquaporin 1 (Colton blood group) ISO CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression, altered location:bile duct, epithelial cell
CTD
RGD
PMID:18988797 RGD:2307071 NCBI chr 7:31,524,933...31,538,602 JBrowse link
G C3 complement C3 ISO mRNA, protein:increased expression, increased activity:kidney RGD PMID:17960140 RGD:7175542 NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
JBrowse link
G CD14 CD14 molecule severity ISO RGD PMID:20555320 RGD:7204130 NCBI chr 5:135,996,265...135,997,909
Ensembl chr 5:142,113,082...142,118,966
JBrowse link
G CDC25A cell division cycle 25A treatment ISO protein:increased expression:cholangiocyte: RGD PMID:22155366 RGD:14700990 NCBI chr 3:48,068,601...48,099,806
Ensembl chr 3:49,154,307...49,186,115
JBrowse link
G CFTR CF transmembrane conductance regulator ISO CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:bile duct epithelium
CTD
RGD
PMID:18988797 RGD:2307071 NCBI chr 7:109,449,847...109,633,023
Ensembl chr 7:122,129,798...122,327,864
JBrowse link
G CYP4A22 cytochrome P450 family 4 subfamily A member 22 ISO mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 1:46,442,854...46,455,153
Ensembl chr 1:47,958,368...47,970,230
JBrowse link
G CYS1 cystin 1 ISO RGD PMID:11854326 RGD:7175541 NCBI chr2A:10,053,361...10,078,264 JBrowse link
G DZIP1L DAZ interacting zinc finger protein 1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:28530676 NCBI chr 3:135,089,250...135,143,117
Ensembl chr 3:142,541,624...142,582,817
JBrowse link
G EGFR epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9486961 NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
JBrowse link
G ELN elastin ISO RGD PMID:21478483 RGD:7207865
G GPBAR1 G protein-coupled bile acid receptor 1 ISO mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr2B:105,520,364...105,523,229
Ensembl chr2B:224,120,127...224,121,119
JBrowse link
G IFT88 intraflagellar transport 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8191288, PMID:8608416 NCBI chr13:1,893,102...2,017,771
Ensembl chr13:20,206,471...20,331,204
JBrowse link
G LOC100972297 polycystin-1 ISO ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease ClinVar PMID:10729710, PMID:11115377, PMID:11967008, PMID:17574468, PMID:17582161, PMID:19515475, PMID:21551026, PMID:22031115, PMID:22508176, PMID:24374109, PMID:25333066, PMID:25741868, PMID:26453610, PMID:26467025, PMID:26632257, PMID:29100090 NCBI chr16:604,927...1,697,831 JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO protein:increased serine phosphorylation:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:kidney (mouse) RGD PMID:3479800 RGD:7207453 NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863
JBrowse link
G NPHP3 nephrocystin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12089381 NCBI chr 3:129,753,399...129,795,300 JBrowse link
G PANX1 pannexin 1 ISO RGD PMID:31630543 RGD:14995937 NCBI chr11:89,142,686...89,295,972
Ensembl chr11:92,628,760...92,685,109
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 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
JBrowse link
G PKD2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease ClinVar PMID:12707387, PMID:25741868, PMID:28492532, PMID:29529603, PMID:30333007 NCBI chr 4:80,295,243...80,365,271
Ensembl chr 4:91,019,734...91,086,775
JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin susceptibility
severity
ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease
ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I
ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT HEPATIC DISEASE
DNA:missense mutations, nonsense mutations: :multiple
DNA:deletion:exon:
protein:decreased expression:kidney
DNA:missense mutations:cds:
DNA:splice site mutation:intron:IVS35-2A>T
CTD
ClinVar
RGD
PMID:1189128, PMID:11898128, PMID:11919560, PMID:12506140, PMID:12846734, PMID:12874454, PMID:12925574, PMID:14741187, PMID:14971004, PMID:14983006, PMID:15108277, PMID:15108281, PMID:15696446, PMID:15698423, PMID:15706593, PMID:15805161, PMID:16133180, PMID:16199545, PMID:16523049, PMID:16632497, PMID:16876319, PMID:17519956, PMID:18414213, PMID:18503009, PMID:18988797, PMID:19021639, PMID:19176689, PMID:19524688, PMID:19914852, PMID:19940839, PMID:19940939, PMID:20413436, PMID:20460933, PMID:20575693, PMID:21046169, PMID:21228398, PMID:21274727, PMID:21493627, PMID:21685914, PMID:21790888, PMID:21896375, PMID:21945273, PMID:22034641, PMID:22995991, PMID:23041322, PMID:23265383, PMID:23389334, PMID:23582048, PMID:23757202, PMID:24033266, PMID:24121792, PMID:24162162, PMID:24336431, PMID:24710345, PMID:24984783, PMID:25114813, PMID:25124979, PMID:25153916, PMID:25193386, PMID:25326637, PMID:25525159, PMID:25646624, PMID:25701400, PMID:25741868, PMID:25771912, PMID:25966130, PMID:26139440, PMID:26385851, PMID:26489027, PMID:26489029, PMID:26633542, PMID:26673778, PMID:26695994, PMID:26721323, PMID:27151922, PMID:27225849, PMID:27491411, PMID:27577217, PMID:27595491, PMID:27752906, PMID:27894351, PMID:28170084, PMID:28375157, PMID:28492532, PMID:28518170, PMID:28555180, PMID:28578020, PMID:28851938, PMID:28862642, PMID:29520754, PMID:29643536, PMID:29801666, PMID:29956005, PMID:30311386, PMID:30507656, PMID:30510609, PMID:30566001, PMID:30650191, PMID:31395954, PMID:32576985 RGD:11062506, RGD:14700917, RGD:1642441, RGD:70439 NCBI chr 6:51,166,516...51,635,057
Ensembl chr 6:52,435,462...52,903,309
JBrowse link
G SLC4A2 solute carrier family 4 member 2 ISO CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression, altered localization:cholangiocyte, basolateral plasma membrane
CTD
RGD
PMID:18988797 RGD:2307071 NCBI chr 7:142,646,413...142,663,376
Ensembl chr 7:154,799,256...154,815,919
JBrowse link
G SRC SRC proto-oncogene, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18385429 NCBI chr20:33,667,614...33,727,126
Ensembl chr20:34,822,271...34,839,634
JBrowse link
G TMEM67 transmembrane protein 67 ISO RGD PMID:30705305 RGD:14995942 NCBI chr 8:90,378,623...90,442,904
Ensembl chr 8:92,324,402...92,387,437
JBrowse link
autosomal recessive pseudohypoaldosteronism type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LTBR lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive
ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1
ClinVar Annotator: match by term: Pseudohypoaldosteronism type 1 autosomal recessive
ClinVar PMID:25741868 NCBI chr12:6,514,432...6,521,966
Ensembl chr12:6,422,470...6,438,510
JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha ISO OMIM NCBI chr12:6,475,723...6,506,443 JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta ISO OMIM NCBI chr16:14,728,834...14,809,072
Ensembl chr16:23,555,388...23,634,873
JBrowse link
G SCNN1G sodium channel epithelial 1 subunit gamma ISO OMIM NCBI chr16:14,893,631...14,928,402
Ensembl chr16:23,435,793...23,469,969
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive ClinVar NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613
JBrowse link
Azotemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100971425 somatotropin ISO CTD Direct Evidence: marker/mechanism CTD PMID:14728886 NCBI chr17:58,010,848...58,013,421 JBrowse link
G REN renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6338847 NCBI chr 1:179,757,653...179,769,530
Ensembl chr 1:184,046,117...184,057,393
JBrowse link
Balkan nephropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22071594 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
JBrowse link
Bartter disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BSND barttin CLCNK type accessory subunit beta ISO Bartter syndrome with sensorineural deafness, OMIM:602522, DNA:point mutation:A1T, R8W, DNA:deletion:exon
ClinVar Annotator: match by term: Bartter's syndrome
RGD
ClinVar
PMID:11687798 RGD:1600603 NCBI chr 1:54,281,736...54,292,159
Ensembl chr 1:55,869,495...55,879,674
JBrowse link
G CLCNKB chloride voltage-gated channel Kb ISO CTD Direct Evidence: marker/mechanism CTD PMID:10561751 NCBI chr 1:15,180,858...15,194,757
Ensembl chr 1:16,174,570...16,188,166
JBrowse link
G KCNJ1 potassium inwardly rectifying channel subfamily J member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Antenatal Bartter Syndrome
CTD
ClinVar
PMID:10561751, PMID:12911542, PMID:16982955, PMID:22275899, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr11:123,649,466...123,680,149
Ensembl chr11:127,553,327...127,557,860
JBrowse link
G REN renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:929154, PMID:3519017, PMID:15976003 NCBI chr 1:179,757,653...179,769,530
Ensembl chr 1:184,046,117...184,057,393
JBrowse link
G SLC12A1 solute carrier family 12 member 1 ISO antenatal Bartter syndrome type 1,OMIM:601678;DNA:point mutation:exon:D648N, V272F
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:8640224, PMID:10561751 RGD:1624188 NCBI chr15:27,155,331...27,252,995
Ensembl chr15:45,479,583...45,577,084
JBrowse link
Bartter disease type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC12A1 solute carrier family 12 member 1 ISO OMIM NCBI chr15:27,155,331...27,252,995
Ensembl chr15:45,479,583...45,577,084
JBrowse link
Bartter disease type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNJ1 potassium inwardly rectifying channel subfamily J member 1 ISO OMIM NCBI chr11:123,649,466...123,680,149
Ensembl chr11:127,553,327...127,557,860
JBrowse link
Bartter disease type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCNKA chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Bartter syndrome type 3 ClinVar PMID:25741868 NCBI chr 1:15,159,362...15,171,376
Ensembl chr 1:16,152,022...16,163,777
JBrowse link
G CLCNKB chloride voltage-gated channel Kb ISO OMIM NCBI chr 1:15,180,858...15,194,757
Ensembl chr 1:16,174,570...16,188,166
JBrowse link
Bartter disease type 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BSND barttin CLCNK type accessory subunit beta ISO OMIM NCBI chr 1:54,281,736...54,292,159
Ensembl chr 1:55,869,495...55,879,674
JBrowse link
Bartter disease type 4b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCNKA chloride voltage-gated channel Ka ISO OMIM NCBI chr 1:15,159,362...15,171,376
Ensembl chr 1:16,152,022...16,163,777
JBrowse link
G CLCNKB chloride voltage-gated channel Kb ISO OMIM NCBI chr 1:15,180,858...15,194,757
Ensembl chr 1:16,174,570...16,188,166
JBrowse link
Bartter disease type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAGED2 MAGE family member D2 ISO OMIM NCBI chr  X:47,010,009...47,018,370
Ensembl chr  X:55,241,161...55,249,256
JBrowse link
Bartter Syndrome Type 3, with Hypocalciuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCNKB chloride voltage-gated channel Kb ISO ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria ClinVar PMID:15531551, PMID:16902263, PMID:20810575, PMID:26920127, PMID:28492532 NCBI chr 1:15,180,858...15,194,757
Ensembl chr 1:16,174,570...16,188,166
JBrowse link
benign familial hematuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A3 collagen type IV alpha 3 chain ISO OMIM NCBI chr2B:114,410,703...114,559,336
Ensembl chr2B:233,294,783...233,371,021
JBrowse link
G COL4A4 collagen type IV alpha 4 chain ISO OMIM NCBI chr2B:114,227,135...114,410,564
Ensembl chr2B:233,065,678...233,205,892
JBrowse link
G COL4A5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Familial hematuria ClinVar NCBI chr  X:97,538,978...97,797,019
Ensembl chr  X:108,008,689...108,166,095
JBrowse link
G LAMA5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Familial hematuria ClinVar NCBI chr20:58,673,850...58,677,760
Ensembl chr20:59,992,130...60,055,765
JBrowse link
Bifid Nose with or without Anorectal And Renal Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FREM1 FRAS1 related extracellular matrix 1 ISO OMIM NCBI chr 9:14,567,781...14,748,474
Ensembl chr 9:15,081,208...15,253,399
JBrowse link
bladder calculus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22232670 NCBI chr 7:17,949,254...17,998,737 JBrowse link
bladder carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Bladder carcinoma ClinVar PMID:7773297, PMID:8589699, PMID:8845844, PMID:9438390, PMID:9843049, PMID:10471491, PMID:11038465, PMID:11055896, PMID:11314002, PMID:11429702, PMID:11879084, PMID:12009017, PMID:15772091, PMID:15880580, PMID:16841094, PMID:16912704, PMID:17384684, PMID:18000903, PMID:19088846, PMID:19331127, PMID:19381019, PMID:19749790, PMID:20453470, PMID:20542753, PMID:21273588, PMID:21510009, PMID:22869148, PMID:23200862, PMID:24476948, PMID:25157968, PMID:25606676, PMID:25741868, PMID:26619011, PMID:28249712, PMID:28492532, PMID:30311386 NCBI chr 4:1,933,172...1,948,742 JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Bladder carcinoma ClinVar PMID:16443854, PMID:18039947, PMID:19382114, PMID:21850009, PMID:22499344, PMID:22683711, PMID:22926243, PMID:24033266, PMID:25157968, PMID:25741868, PMID:26619011 NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Bladder carcinoma ClinVar PMID:16443854, PMID:18039947, PMID:19382114, PMID:21850009, PMID:22499344, PMID:22683711, PMID:22926243, PMID:24033266, PMID:25157968, PMID:25741868, PMID:26619011 NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750
JBrowse link
G PMF1 polyamine modulated factor 1 disease_progression ISO RGD PMID:22682992 RGD:30296649 NCBI chr 1:131,556,843...131,583,180 JBrowse link
bladder disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHRM3 cholinergic receptor muscarinic 3 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:17922784, PMID:22077972 RGD:5133442 NCBI chr 1:214,931,514...215,452,739 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 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942
JBrowse link
G INS insulin ISO CTD Direct Evidence: therapeutic CTD PMID:2055425 NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666
JBrowse link
G NGF nerve growth factor ISO associated with Diabetes Mellitus, Experimental RGD PMID:15448108 RGD:7242800 NCBI chr 1:87,223,597...87,276,759 JBrowse link
G RASSF1 Ras association domain family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23527093 NCBI chr 3:50,255,897...50,267,042
Ensembl chr 3:51,491,548...51,502,392
JBrowse link
G RGS2 regulator of G protein signaling 2 treatment ISO associated with hypertension RGD PMID:19689474 RGD:9684972 NCBI chr 1:168,273,112...168,276,348
Ensembl chr 1:172,566,701...172,569,955
JBrowse link
G RGS3 regulator of G protein signaling 3 treatment ISO associated with hypertension RGD PMID:19689474 RGD:9684972 NCBI chr 9:84,561,302...84,696,534
Ensembl chr 9:112,927,407...113,065,746
JBrowse link
G RGS4 regulator of G protein signaling 4 treatment ISO associated with hypertension RGD PMID:19689474 RGD:9684972 NCBI chr 1:138,488,317...138,496,497
Ensembl chr 1:142,284,040...142,292,225
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 chr10:44,630,006...44,632,419 JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23527093 NCBI chr22:13,811,297...13,872,799
Ensembl chr22:31,662,562...31,723,964
JBrowse link
G VIP vasoactive intestinal peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:18299998 NCBI chr 6:150,564,545...150,573,582
Ensembl chr 6:155,254,652...155,263,730
JBrowse link
bladder diverticulum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Diverticulum of bladder ClinVar PMID:25741868 NCBI chr2A:56,017,678...56,076,059
Ensembl chr2A:57,155,000...57,212,500
JBrowse link
BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHRNA3 cholinergic receptor nicotinic alpha 3 subunit ISO OMIM NCBI chr15:57,523,553...57,550,228
Ensembl chr15:76,487,710...76,512,044
JBrowse link
bladder exstrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LZTR1 leucine zipper like transcription regulator 1 ISO ClinVar Annotator: match by term: Bladder exstrophy ClinVar NCBI chr22:3,206,019...3,223,050
Ensembl chr22:19,695,228...19,713,007
JBrowse link
bladder exstrophy-epispadias-cloacal exstrophy complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FZD5 frizzled class receptor 5 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr2B:95,003,246...95,010,577
Ensembl chr2B:213,133,017...213,134,774
JBrowse link
G ISL1 ISL LIM homeobox 1 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr 5:62,635,095...62,650,141
Ensembl chr 5:64,252,715...64,264,674
JBrowse link
G LRP10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr14:3,688,934...3,698,778
Ensembl chr14:21,788,345...21,795,936
JBrowse link
G TP63 tumor protein p63 ISO DNA:deletion, insertion, SNPs: :multiple RGD PMID:23284286 RGD:11568641 NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104
JBrowse link
G WNT10A Wnt family member 10A ISO ClinVar Annotator: match by term: BLADDER EXSTROPHY AND EPISPADIAS COMPLEX ClinVar PMID:22581971, PMID:23401279, PMID:24398796, PMID:28492532, PMID:30426266 NCBI chr2B:106,140,859...106,154,301
Ensembl chr2B:224,736,598...224,747,912
JBrowse link
G WNT11 Wnt family member 11 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr11:71,239,781...71,263,915
Ensembl chr11:74,540,169...74,560,024
JBrowse link
G WNT6 Wnt family member 6 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr2B:106,119,740...106,134,317
Ensembl chr2B:224,714,229...224,728,171
JBrowse link
G WNT7A Wnt family member 7A ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr 3:13,733,487...13,797,189
Ensembl chr 3:14,077,839...14,138,386
JBrowse link
bladder neck obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADRA1A adrenoceptor alpha 1A ISO RGD PMID:20886573 RGD:5688368 NCBI chr 8:25,947,996...26,138,022
Ensembl chr 8:22,853,677...23,044,388
JBrowse link
G COL1A1 collagen type I alpha 1 chain treatment ISO RGD PMID:23313213 RGD:7257549 NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
G COL3A1 collagen type III alpha 1 chain treatment ISO RGD PMID:23313213 RGD:7257549 NCBI chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956
JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO RGD PMID:21356374 RGD:7257709 NCBI chr15:30,152,924...30,282,854
Ensembl chr15:48,486,688...48,521,554
JBrowse link
G ELN elastin treatment ISO RGD PMID:23313213 RGD:7257549
G HIF1A hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:urinary bladder (rat) RGD PMID:12118092 RGD:9068887 NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885
JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A ISO mRNA:increased expression:urinary bladder RGD PMID:23344575 RGD:7257660 NCBI chr13:27,976,415...28,042,941
Ensembl chr13:46,694,273...46,759,826
JBrowse link
G MMP7 matrix metallopeptidase 7 treatment ISO RGD PMID:23313213 RGD:7257549 NCBI chr11:97,467,037...97,477,305
Ensembl chr11:100,960,032...100,971,099
JBrowse link
G NGF nerve growth factor treatment ISO RGD PMID:22795377 RGD:7242774 NCBI chr 1:87,223,597...87,276,759 JBrowse link
G NOS3 nitric oxide synthase 3 ISO mRNA:decreased expression:urinary bladder RGD PMID:21256554 RGD:4891960 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
JBrowse link
G OPTN optineurin ISO protein:increased expression:urinary bladder: RGD PMID:16361812 RGD:7775024 NCBI chr10:13,104,335...13,142,725
Ensembl chr10:13,077,345...13,115,773
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15311063 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
JBrowse link
G SOD2 superoxide dismutase 2 ISO RGD PMID:21060756 RGD:7175518 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
JBrowse link
bladder urothelial carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTL7A actin like 7A ISO RGD PMID:29058301 RGD:13831338 NCBI chr 9:80,014,898...80,016,379
Ensembl chr 9:108,188,166...108,189,473
JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma ClinVar PMID:17611497, PMID:18256540, PMID:18392055, PMID:18504432, PMID:18611285, PMID:19418217, PMID:19487299, PMID:19853286, PMID:20233444, PMID:20453058, PMID:21464312, PMID:21512767, PMID:21793738, PMID:22538770, PMID:22610119, PMID:22722201, PMID:22722839, PMID:22980975, PMID:23237847, PMID:23348505, PMID:23700467, PMID:23728071, PMID:23934607, PMID:24190505, PMID:24657128, PMID:25157968, PMID:26619011, PMID:28492532 NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma ClinVar PMID:12068308, PMID:12460918, PMID:12460919, PMID:12960123, PMID:14612909, PMID:14679157, PMID:14688025, PMID:15035987, PMID:16439621, PMID:16474404, PMID:17096326, PMID:17119447, PMID:17311103, PMID:17603483, PMID:18039235, PMID:18042262, PMID:18186519, PMID:18368129, PMID:18413255, PMID:18794803, PMID:19010912, PMID:19206169, PMID:19238210, PMID:19376813, PMID:19383316, PMID:19537845, PMID:19913317, PMID:20350999, PMID:20619739, PMID:21129611, PMID:21483012, PMID:21784453, PMID:22180495, PMID:22310681, PMID:22649091, PMID:22773810, PMID:23273605, PMID:23352452, PMID:23833300, PMID:24033266, PMID:25157968, PMID:25463315, PMID:25741868, PMID:26619011, PMID:28492532, PMID:29595366, PMID:30311386 NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma ClinVar PMID:7780957, PMID:8521414, PMID:9324288, PMID:10491434, PMID:16234564, PMID:16896043, PMID:21462282, PMID:25157968, PMID:25741868, PMID:26619011, PMID:28492532 NCBI chr 9:21,803,862...21,831,322 JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma ClinVar PMID:21390126, PMID:21680795, PMID:21796119, PMID:22832583, PMID:23334668, PMID:23685749, PMID:23778141, PMID:26087898, PMID:26619011, PMID:27257180, PMID:28492532, PMID:29551561 NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206
JBrowse link
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma ClinVar PMID:9065402, PMID:9065403, PMID:9294210, PMID:10027390, PMID:10192393, PMID:10391090, PMID:10435629, PMID:10666372, PMID:11351304, PMID:11930117, PMID:11950921, PMID:12124804, PMID:15133491, PMID:24788118, PMID:25157968, PMID:26619011, PMID:26822237 NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma ClinVar PMID:16397024, PMID:18413839, PMID:22046346, PMID:22908275, PMID:23220880, PMID:25157968, PMID:26619011 NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862
JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma ClinVar PMID:26619011 NCBI chr12:32,811,533...32,834,958
Ensembl chr12:33,063,434...33,084,994
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma ClinVar PMID:25741868, PMID:26619011 NCBI chr 4:144,660,676...144,874,404
Ensembl chr 4:156,312,274...156,402,351
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 severity ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma
protein:increased expression:urothelial cells (human)
ClinVar
RGD
PMID:1908846, PMID:7773297, PMID:8589699, PMID:8845844, PMID:8858131, PMID:9438390, PMID:9677066, PMID:9843049, PMID:10073901, PMID:10471491, PMID:10696568, PMID:11038465, PMID:11241532, PMID:11429702, PMID:11529856, PMID:11879084, PMID:12833394, PMID:15772091, PMID:16841094, PMID:17384684, PMID:18642369, PMID:19088846, PMID:19331127, PMID:19381019, PMID:19749790, PMID:20542753, PMID:21273588, PMID:22869148, PMID:23200862, PMID:24476948, PMID:25157968, PMID:25606676, PMID:25741868, PMID:26619011, PMID:28249712, PMID:28492532, PMID:28507621, PMID:30311386 RGD:38500205 NCBI chr 4:1,933,172...1,948,742 JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma ClinVar PMID:1904555, PMID:3510078, PMID:11150980, PMID:12210337, PMID:12835555, PMID:14608654, PMID:16155195, PMID:16170316, PMID:16329078, PMID:16372351, PMID:16443854, PMID:16835863, PMID:16881968, PMID:16969868, PMID:17054105, PMID:17211612, PMID:17250658, PMID:17384584, PMID:17412879, PMID:17979197, PMID:18039947, PMID:18042262, PMID:18247425, PMID:18470943, PMID:18978862, PMID:19206176, PMID:19213030, PMID:19255327, PMID:19371735, PMID:19382114, PMID:19669404, PMID:19773371, PMID:20660566, PMID:20859122, PMID:20979192, PMID:21438134, PMID:21495179, PMID:21834037, PMID:21850009, PMID:22087699, PMID:22256804, PMID:22317973, PMID:22499344, PMID:22683711, PMID:22726224, PMID:22926243, PMID:23093928, PMID:23096712, PMID:23406027, PMID:23429430, PMID:23751039, PMID:23884457, PMID:24006476, PMID:24033266, PMID:24129065, PMID:24169525, PMID:24224811, PMID:24390138, PMID:25157968, PMID:25326635, PMID:25695684, PMID:25741868, PMID:25914166, PMID:26619011, PMID:27195699, PMID:27589201, PMID:28027064, PMID:28139825, PMID:28390077, PMID:28492532, PMID:29073591, PMID:29493581, PMID:31775759, PMID:168335863 NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma ClinVar PMID:18772396, PMID:19657110, PMID:19798509, PMID:19818334, PMID:20946881, PMID:21352804, PMID:21446021, PMID:22160010, PMID:22397365, PMID:22417203, PMID:22898539, PMID:23558169, PMID:24606448, PMID:25043048, PMID:25157968, PMID:25741868, PMID:26619011 NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma ClinVar PMID:2278970, PMID:3122217, PMID:12460918, PMID:15696205, PMID:16361624, PMID:16434492, PMID:16618717, PMID:18316791, PMID:18794081, PMID:19075190, PMID:19114683, PMID:19679400, PMID:20921462, PMID:20921465, PMID:21228335, PMID:22407852, PMID:22722830, PMID:23325582, PMID:25157968, PMID:26619011 NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma ClinVar PMID:1904555, PMID:3510078, PMID:11150980, PMID:12210337, PMID:12835555, PMID:14608654, PMID:16155195, PMID:16170316, PMID:16329078, PMID:16372351, PMID:16443854, PMID:16835863, PMID:16881968, PMID:16969868, PMID:17054105, PMID:17211612, PMID:17250658, PMID:17384584, PMID:17412879, PMID:17979197, PMID:18039947, PMID:18042262, PMID:18247425, PMID:18470943, PMID:18978862, PMID:19206176, PMID:19213030, PMID:19255327, PMID:19371735, PMID:19382114, PMID:19669404, PMID:19773371, PMID:20660566, PMID:20859122, PMID:20979192, PMID:21438134, PMID:21495179, PMID:21834037, PMID:21850009, PMID:22087699, PMID:22256804, PMID:22317973, PMID:22499344, PMID:22683711, PMID:22726224, PMID:22926243, PMID:23093928, PMID:23096712, PMID:23406027, PMID:23429430, PMID:23751039, PMID:23884457, PMID:24006476, PMID:24033266, PMID:24129065, PMID:24169525, PMID:24224811, PMID:24390138, PMID:25157968, PMID:25326635, PMID:25695684, PMID:25741868, PMID:25914166, PMID:26619011, PMID:27195699, PMID:27589201, PMID:28027064, PMID:28139825, PMID:28390077, PMID:28492532, PMID:29073591, PMID:29493581, PMID:31775759, PMID:168335863 NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750
JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma ClinVar PMID:17366577, PMID:17551924, PMID:19915144, PMID:21107320, PMID:22197931, PMID:22588879, PMID:23569304, PMID:24033266, PMID:24803665, PMID:25157968, PMID:26619011, PMID:28049852 NCBI chr15:45,337,117...45,438,826
Ensembl chr15:63,613,961...63,714,161
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma ClinVar PMID:1654209, PMID:2278970, PMID:2407301, PMID:2674680, PMID:2989702, PMID:3102434, PMID:3122217, PMID:6587382, PMID:8120410, PMID:10821536, PMID:12460918, PMID:12727991, PMID:14508525, PMID:15899789, PMID:16273091, PMID:16291983, PMID:16434492, PMID:17332249, PMID:17517660, PMID:17699718, PMID:18375819, PMID:18390968, PMID:18633438, PMID:18668139, PMID:18948947, PMID:19075190, PMID:19657110, PMID:19775298, PMID:19880792, PMID:20130576, PMID:20149136, PMID:20179705, PMID:20406486, PMID:20619739, PMID:20736745, PMID:21079152, PMID:21107323, PMID:21305640, PMID:21576590, PMID:21729679, PMID:21829508, PMID:22407852, PMID:22499344, PMID:22718121, PMID:22761467, PMID:22773810, PMID:22962325, PMID:23076151, PMID:23392294, PMID:23400451, PMID:23414587, PMID:23431193, PMID:23515407, PMID:23538902, PMID:23569304, PMID:23614898, PMID:24006476, PMID:24033266, PMID:24148783, PMID:24370118, PMID:24671188, PMID:25157968, PMID:25348872, PMID:25695684, PMID:26619011, PMID:26821351, PMID:27050078, PMID:28492532, PMID:28780248 NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma ClinVar PMID:15016963, PMID:15254419, PMID:15520168, PMID:15608678, PMID:15647370, PMID:15805248, PMID:15930273, PMID:16353168, PMID:16847462, PMID:16906227, PMID:16930767, PMID:17376864, PMID:17673550, PMID:18371219, PMID:18676830, PMID:18725974, PMID:19029981, PMID:19223544, PMID:19366826, PMID:19513541, PMID:19671852, PMID:19903786, PMID:20177704, PMID:20453058, PMID:20619739, PMID:21430269, PMID:21558396, PMID:21824802, PMID:22120714, PMID:22162582, PMID:22162589, PMID:22228622, PMID:22271473, PMID:22357840, PMID:22658544, PMID:22729222, PMID:22729223, PMID:22729224, PMID:22949682, PMID:23066039, PMID:23100325, PMID:23246288, PMID:23408298, PMID:23754335, PMID:23888070, PMID:24033266, PMID:24265155, PMID:24497998, PMID:24559322, PMID:24782230, PMID:25157968, PMID:25557259, PMID:25741868, PMID:26266975, PMID:26266985, PMID:26301495, PMID:26593112, PMID:26619011, PMID:26822237, PMID:26851524, PMID:27426476, PMID:27626068, PMID:27631024, PMID:27870750, PMID:28492532, PMID:28941273, PMID:29446767, PMID:31775759 NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma ClinVar PMID:26619011, PMID:27535533, PMID:28492532, PMID:29706350 NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma ClinVar PMID:1349175, PMID:1359493, PMID:1565143, PMID:1565144, PMID:1569604, PMID:1591732, PMID:1631137, PMID:1631151, PMID:1644930, PMID:1673792, PMID:1679237, PMID:1683921, PMID:1686725, PMID:1737852, PMID:1918170, PMID:1978757, PMID:2046748, PMID:2259385, PMID:2531845, PMID:2554494, PMID:2826609, PMID:7565304, PMID:7651740, PMID:7707106, PMID:7732013, PMID:7750099, PMID:7783166, PMID:7791795, PMID:7881428, PMID:7887414, PMID:8023157, PMID:8062826, PMID:8080050, PMID:8099841, PMID:8118819, PMID:8164043, PMID:8242631, PMID:8336941, PMID:8364550, PMID:8401536, PMID:8423216, PMID:8425176, PMID:8479749, PMID:8527048, PMID:8550239, PMID:8633021, PMID:8718514, PMID:8825920, PMID:8829627, PMID:8869100, PMID:9020384, PMID:9096669, PMID:9157982, PMID:9218725, PMID:9242456, PMID:9268986, PMID:9290701, PMID:9364015, PMID:9407971, PMID:9525742, PMID:9546439, PMID:9569050, PMID:9572492, PMID:9598730, PMID:9627118, PMID:9632751, PMID:9635828, PMID:9662334, PMID:9667734, PMID:9825943, PMID:9839505, PMID:10064694, PMID:10229196, PMID:10411893, PMID:10432928, PMID:10519380, PMID:10567903, PMID:10589545, PMID:10713666, PMID:10761705, PMID:10797439, PMID:10864200, PMID:10871862, PMID:10914716, PMID:10922393, PMID:11051239, PMID:11051241, PMID:11139324, PMID:11180592, PMID:11370630, PMID:11429705, PMID:11479205, PMID:11593407, PMID:11782540, PMID:11793474, PMID:11896595, PMID:11920788, PMID:11920959, PMID:12007217, PMID:12034820, PMID:12076704, PMID:12124823, PMID:12406399, PMID:12509279, PMID:12672316, PMID:12695689, PMID:12726864, PMID:12826609, PMID:12885464, PMID:12901974, PMID:12909720, PMID:12917626, PMID:14559903, PMID:14584079, PMID:14673037, PMID:15004724, PMID:15017592, PMID:15037740, PMID:15381368, PMID:15390294, PMID:15580553, PMID:15607980, PMID:15607981, PMID:15722483, PMID:15825182, PMID:15850016, PMID:15925506, PMID:15951970, PMID:15977174, PMID:15982667, PMID:16288208, PMID:16312222, PMID:16337994, PMID:16401470, PMID:16489069, PMID:16494995, PMID:16508005, PMID:16551709, PMID:16682957, PMID:16736287, PMID:16818505, PMID:16827139, PMID:16861262, PMID:17015838, PMID:17311302, PMID:17390010, PMID:17401428, PMID:17417627, PMID:17427234, PMID:17540308, PMID:17541742, PMID:17567834, PMID:17572079, PMID:17606709, PMID:17636407, PMID:17724467, PMID:18208484, PMID:18307025, PMID:18453682, PMID:18511570, PMID:18555592, PMID:18628487, PMID:18685109, PMID:18989156, PMID:19012332, PMID:19101993, PMID:19147582, PMID:19171880, PMID:19336573, PMID:19367569, PMID:19378321, PMID:19468865, PMID:19556618, PMID:19681600, PMID:19834951, PMID:19850740, PMID:19913028, PMID:19930417, PMID:20013323, PMID:20028212, PMID:20113312, PMID:20127978, PMID:20128691, PMID:20234365, PMID:20308654, PMID:20407015, PMID:20505364, PMID:20506564, PMID:20516128, PMID:20522432, PMID:20693561, PMID:20805372, PMID:20878954, PMID:20972454, PMID:21056685, PMID:21059199, PMID:21115975, PMID:21159183, PMID:21187651, PMID:21232794, PMID:21305319, PMID:21319261, PMID:21343334, PMID:21356188, PMID:21470402, PMID:21483000, PMID:21484931, PMID:21514416, PMID:21519010, PMID:21535297, PMID:21552135, PMID:21601526, PMID:21626334, PMID:21674059, PMID:21747090, PMID:21761402, PMID:22006311, PMID:22052707, PMID:22090360, PMID:22109999, PMID:22110706, PMID:22114072, PMID:22186996, PMID:22198284, PMID:22233476, PMID:22265402, PMID:22672556, PMID:22710932, PMID:22713868, PMID:22768918, PMID:22811390, PMID:22844452, PMID:22847613, PMID:22866089, PMID:22887876, PMID:22899716, PMID:22915647, PMID:22919068, PMID:22923379, PMID:22983585, PMID:22999923, PMID:23031740, PMID:23161690, PMID:23165212, PMID:23172776, PMID:23175693, PMID:23246812, PMID:23259501, PMID:23263379, PMID:23265383, PMID:23315175, PMID:23334668, PMID:23355100, PMID:23406775, PMID:23538418, PMID:23625637, PMID:23630318, PMID:23667202, PMID:23792586, PMID:23894400, PMID:23950206, PMID:24033266, PMID:24038938, PMID:24122735, PMID:24381225, PMID:24384472, PMID:24395441, PMID:24487413, PMID:24501221, PMID:24573247, PMID:24590827, PMID:24603336, PMID:24641375, PMID:24651012, PMID:24651015, PMID:24677579, PMID:24702488, PMID:24728327, PMID:24766216, PMID:24810334, PMID:24835218, PMID:24940547, PMID:25119136, PMID:25157968, PMID:25293557, PMID:25294809, PMID:25339994, PMID:25503501, PMID:25504633, PMID:25525159, PMID:25584008, PMID:25584637, PMID:25587027, PMID:25619955, PMID:25634208, PMID:25691460, PMID:25741868, PMID:25787918, PMID:25896519, PMID:25925845, PMID:25927356, PMID:25945745, PMID:25952993, PMID:25980754, PMID:26014290, PMID:26024390, PMID:26205489, PMID:26225655, PMID:26230955, PMID:26270727, PMID:26425688, PMID:26467025, PMID:26497680, PMID:26554828, PMID:26556299, PMID:26585234, PMID:26619011, PMID:26659639, PMID:26681312, PMID:26781615, PMID:26786923, PMID:26787237, PMID:26822237, PMID:26845104, PMID:26878390, PMID:26911350, PMID:26976419, PMID:27022024, PMID:27077130, PMID:27179933, PMID:27189670, PMID:27276561, PMID:27276934, PMID:27374712, PMID:27463065, PMID:27489289, PMID:27493922, PMID:27523101, PMID:27533082, PMID:27616075, PMID:27621308, PMID:27622479, PMID:27680515, PMID:27683180, PMID:27724982, PMID:27895058, PMID:27959731, PMID:28135145, PMID:28152038, PMID:28279309, PMID:28369373, PMID:28453743, PMID:28472496, PMID:28476805, PMID:28492532, PMID:28724667, PMID:28802053, PMID:28861920, PMID:28915717, PMID:28975465, PMID:29025599, PMID:29070607, PMID:29126202, PMID:29324801, PMID:29416011, PMID:29470806, PMID:29478780, PMID:29489754, PMID:29752822, PMID:29753700, PMID:29979965, PMID:30076369, PMID:30087429, PMID:30128536, PMID:30216591, PMID:30224644, PMID:30297838, PMID:30311369, PMID:30327374, PMID:30352134, PMID:30450585, PMID:30630526, PMID:30720243, PMID:30840781, PMID:31775759 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
JBrowse link
C1q Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1QA complement C1q A chain ISO OMIM NCBI chr 1:21,821,927...21,825,020 JBrowse link
G C1QB complement C1q B chain ISO OMIM NCBI chr 1:21,838,514...21,846,855
Ensembl chr 1:22,786,685...22,797,581
JBrowse link
G C1QC complement C1q C chain ISO OMIM NCBI chr 1:21,828,969...21,833,518
Ensembl chr 1:22,770,582...22,782,176
JBrowse link
CAKUT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP4 bone morphogenetic protein 4 susceptibility ISO DNA:SNPs: :rs2071047,rs17563(human) RGD PMID:24131739 RGD:13442498 NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752
JBrowse link
G BMP7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:27657687 NCBI chr20:53,509,484...53,606,889
Ensembl chr20:54,788,974...54,885,021
JBrowse link
G CDC5L cell division cycle 5 like ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:27657687 NCBI chr 6:43,983,840...44,043,029
Ensembl chr 6:45,265,845...45,326,383
JBrowse link
G CHD1L chromodomain helicase DNA binding protein 1 like ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:27657687 NCBI chr 1:122,595,246...122,720,788
Ensembl chr 1:112,809,274...112,862,219
JBrowse link
G EMC1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:26942288, PMID:27657687 NCBI chr 1:18,176,791...18,210,280
Ensembl chr 1:19,223,355...19,257,835
JBrowse link
G GDF6 growth differentiation factor 6 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:18425797, PMID:19129173, PMID:23307924, PMID:24033266, PMID:25741868, PMID:28492532, PMID:32737436 NCBI chr 8:92,767,401...92,785,955 JBrowse link
G HNF1B HNF1 homeobox B ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:24429398, PMID:25741868 NCBI chr17:19,333,485...19,392,147
Ensembl chr17:19,633,424...19,691,863
JBrowse link
G LIFR LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868, PMID:28334964, PMID:28492532 NCBI chr 5:71,817,431...71,899,101
Ensembl chr 5:76,878,633...76,928,267
JBrowse link
G NOTCH2 notch receptor 2 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 NCBI chr 1:82,457,829...82,615,142
Ensembl chr 1:117,538,243...117,612,840
JBrowse link
G NRIP1 nuclear receptor interacting protein 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:28381549 NCBI chr21:1,565,149...1,801,358
Ensembl chr21:15,065,197...15,068,673
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868, PMID:28492532 NCBI chr  X:6,296,597...6,376,197
Ensembl chr  X:13,611,304...13,664,512
JBrowse link
G RET ret proto-oncogene ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:27657687, PMID:28492532 NCBI chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331
JBrowse link
G SIX2 SIX homeobox 2 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:27657687 NCBI chr2A:45,109,414...45,113,887
Ensembl chr2A:46,039,582...46,044,035
JBrowse link
G SLIT2 slit guidance ligand 2 ISO ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:25741868, PMID:26026792 NCBI chr 4:14,654,448...15,023,708
Ensembl chr 4:20,158,952...20,314,656
JBrowse link
G SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 ISO ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:25741868, PMID:26026792