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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 chr23:35,508,478...35,536,081 JBrowse link
G WNT4 Wnt family member 4 ISO OMIM NCBI chr 2:77,112,045...77,129,702
Ensembl chr 2:77,101,300...77,127,111
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 chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
JBrowse link
G ADRB2 adrenoceptor beta 2 treatment ISO associated with Bacteremia;
associated with Endotoxemia;
associated with endotoxemia; protein:increased expression:kidney
RGD PMID:14747378, PMID:19020966, PMID:19887504 RGD:7175276, RGD:7175281, RGD:7175283 NCBI chr 4:60,048,502...60,050,447
Ensembl chr 4:59,941,517...60,050,298
JBrowse link
G AFM afamin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr13:62,212,230...62,235,136
Ensembl chr13:62,053,814...62,294,709
JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO RGD PMID:21811803 RGD:7243868 NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129
JBrowse link
G AHSG alpha 2-HS glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr34:19,221,034...19,228,866
Ensembl chr34:19,221,107...19,228,716
JBrowse link
G ALAD aminolevulinate dehydratase ISO protein:decreased activity:kidney (rat) RGD PMID:19484701 RGD:4144146 NCBI chr11:67,736,643...67,752,399
Ensembl chr11:67,741,390...67,752,321
JBrowse link
G ALB albumin ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:2048579, PMID:21259293, PMID:24361871, PMID:28885000 NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709
JBrowse link
G ALOX5 arachidonate 5-lipoxygenase ISO RGD PMID:19194548 RGD:2317536 NCBI chr28:2,170,920...2,218,765
Ensembl chr28:2,170,920...2,219,609
JBrowse link
G AMBP alpha-1-microglobulin/bikunin precursor ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD
PMID:8963945, PMID:28885000 RGD:6904218 NCBI chr11:68,338,644...68,353,366
Ensembl chr11:68,338,389...68,351,994
JBrowse link
G AMN amnion associated transmembrane protein ISO CTD Direct Evidence: therapeutic CTD PMID:20514524 NCBI chr 8:70,800,435...70,807,835 JBrowse link
G ANXA1 annexin A1 treatment ISO RGD PMID:22101490 RGD:7421583 NCBI chr 1:84,744,159...84,763,011
Ensembl chr 1:84,744,163...84,763,011
JBrowse link
G AR androgen receptor ISO RGD PMID:24503548 RGD:11570523 NCBI chr24:34,713,390...34,731,461
NCBI chr  X:51,969,785...52,167,450
Ensembl chr  X:51,969,785...52,151,912
JBrowse link
G ARG1 arginase 1 ISO mRNA:decreased expression:renal tubule (rat) RGD PMID:12371970 RGD:631989 NCBI chr12:242,717...255,736
Ensembl chr12:242,714...255,305
JBrowse link
G ARG2 arginase 2 ISO mRNA:decreased expression:renal tubule (rat) RGD PMID:12371970 RGD:631989 NCBI chr 8:41,588,051...41,619,406
Ensembl chr 8:41,588,150...41,619,402
JBrowse link
G ATP5F1B ATP synthase F1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25666834 NCBI chr10:870,405...876,937
Ensembl chr10:870,392...909,161
JBrowse link
G AVP arginine vasopressin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2139164 NCBI chr24:18,183,057...18,184,827
Ensembl chr24:18,183,057...18,184,883
JBrowse link
G AVPR1A arginine vasopressin receptor 1A ISO RGD PMID:17347933 RGD:2300348 NCBI chr10:6,266,217...6,269,662
Ensembl chr10:6,265,998...6,269,662
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 chr30:11,331,574...11,337,991
Ensembl chr30:11,331,569...11,337,997
JBrowse link
G B9D2 B9 domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10469268 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
JBrowse link
G BAD BCL2 associated agonist of cell death treatment ISO RGD PMID:20037173 RGD:10053672 NCBI chr18:52,781,335...52,791,789
Ensembl chr18:52,781,921...52,791,405
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:20037173, PMID:20623750 RGD:10053672 NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO protein:increased expression:kidney RGD PMID:20037173 RGD:10053672 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
JBrowse link
G BCL2L1 BCL2 like 1 ISO protein:increased expression:kidney RGD PMID:20037173 RGD:10053672 NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355
JBrowse link
G BDKRB2 bradykinin receptor B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24975837 NCBI chr 8:64,974,588...65,005,682
Ensembl chr 8:64,974,997...65,003,407
JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
JBrowse link
G CAPN1 calpain 1 treatment ISO associated with Rhabdomyolysis; RGD PMID:24158126 RGD:13792553 NCBI chr18:51,983,266...52,010,831
Ensembl chr18:51,983,824...52,010,757
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO protein:increased secretion:serum (mouse) RGD PMID:19508392 RGD:4889990 NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852
JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26055553 NCBI chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952
JBrowse link
G CD44 CD44 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chr18:32,735,493...32,826,483
Ensembl chr18:32,737,907...32,827,107
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO protein:decreased expression:kidney RGD PMID:16557226 RGD:2293624 NCBI chr27:33,609,154...33,613,558
Ensembl chr27:33,611,760...33,612,906
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 chr25:29,982,811...29,999,565
Ensembl chr25:29,982,811...29,999,563
JBrowse link
G CP ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr23:43,969,297...44,033,226
Ensembl chr23:43,969,435...44,030,369
JBrowse link
G CRP C-reactive protein ISO associated with Myocardial Infarction;
protein:increased expression:serum
RGD PMID:22551254, PMID:22694718 RGD:6903282, RGD:6906888 NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166
JBrowse link
G CSF1 colony stimulating factor 1 ISO RGD PMID:23143303 RGD:7257565 NCBI chr 6:42,028,454...42,047,028
Ensembl chr 6:42,034,149...42,049,371
JBrowse link
G CSF1R colony stimulating factor 1 receptor ISO RGD PMID:23143303 RGD:7257565 NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 treatment ISO RGD PMID:18495746, PMID:19890363 RGD:7257732, RGD:7257735 NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866
JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 treatment ISO RGD PMID:18495746, PMID:23981375 RGD:7257727, RGD:7257735 NCBI chr30:37,818,400...37,824,192
Ensembl chr30:37,799,140...37,824,135
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO RGD PMID:6223803 RGD:2307326 NCBI chr10:1,825,224...1,830,845
Ensembl chr10:1,826,046...1,829,911
JBrowse link
G CYP2D15 cytochrome P450 2D ISO CTD Direct Evidence: marker/mechanism CTD PMID:19814645 NCBI chr10:23,255,259...23,259,380
Ensembl chr10:23,255,249...23,259,298
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 treatment ISO RGD PMID:24412858, PMID:24717297 RGD:14700914, RGD:14700920 NCBI chr28:41,079,164...41,089,188
Ensembl chr28:41,035,025...41,122,754
JBrowse link
G DDIT3 DNA damage inducible transcript 3 ISO Protein:increased expression:renal tubule epithelium RGD PMID:15476864 RGD:1599736 NCBI chr10:1,606,693...1,612,410
Ensembl chr10:1,606,693...1,611,303
JBrowse link
G ECE1 endothelin converting enzyme 1 ISO RGD PMID:10073607, PMID:11043448 RGD:7244180, RGD:7244185 NCBI chr 2:77,732,645...77,793,950
Ensembl chr 2:77,678,686...77,792,114
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 chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383
JBrowse link
G EGF epidermal growth factor ISO RGD PMID:20482449 RGD:6906908 NCBI chr32:30,073,541...30,166,904
Ensembl chr32:30,073,950...30,166,295
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 chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631
JBrowse link
G EGLN1 egl-9 family hypoxia inducible factor 1 ISO mRNA, protein:decreased expression:kidney RGD PMID:19349364 RGD:11252083 NCBI chr 4:8,053,486...8,110,791
Ensembl chr 4:8,053,837...8,109,325
JBrowse link
G EGLN3 egl-9 family hypoxia inducible factor 3 ISO mRNA, protein:decreased expression:kidney RGD PMID:19349364 RGD:11252083 NCBI chr 8:12,873,755...12,901,728
Ensembl chr 8:12,875,387...12,901,709
JBrowse link
G EPAS1 endothelial PAS domain protein 1 treatment ISO RGD PMID:16762988 RGD:10395386 NCBI chr10:48,550,836...48,636,776
Ensembl chr10:48,551,410...48,634,844
JBrowse link
G EPHX2 epoxide hydrolase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:26165641 NCBI chr25:30,045,040...30,107,110
Ensembl chr25:30,045,291...30,107,110
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 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144
JBrowse link
G FAS Fas cell surface death receptor ISO protein:increased expression:renal tubule (rat) RGD PMID:21374789 RGD:8663469 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
G FGA fibrinogen alpha chain ISO mRNA:increased expression:kidney (rat) RGD PMID:15805072 RGD:9685024 NCBI chr15:52,238,305...52,247,017
Ensembl chr15:52,236,198...52,246,975
JBrowse link
G FIS1 fission, mitochondrial 1 ISO protein:decreased expression:kidney (rat) RGD PMID:26480480 RGD:12910862 NCBI chr 6:8,642,014...8,645,812
Ensembl chr 6:8,642,039...8,648,851
JBrowse link
G FN1 fibronectin 1 ISO protein:increased expression:kidney RGD PMID:11768240, PMID:12884040 RGD:7205684, RGD:729934 NCBI chr37:22,456,854...22,522,410
Ensembl chr37:22,420,428...22,523,123
JBrowse link
G FSTL1 follistatin like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20861081 NCBI chr33:23,892,317...23,914,406
Ensembl chr33:23,894,573...23,933,779
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:602954, PMID:734759, PMID:4794122 NCBI chr  X:122,217,317...122,231,862
Ensembl chr  X:122,205,683...122,231,678
JBrowse link
G GAS6 growth arrest specific 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19564549 NCBI chr22:60,975,196...61,005,869
Ensembl chr22:60,974,849...61,005,875
JBrowse link
G GATM glycine amidinotransferase ISO protein:decreased activity:kidney (rat) RGD PMID:2752493 RGD:1599823 NCBI chr30:11,724,446...11,742,214
Ensembl chr30:11,723,519...11,742,214
JBrowse link
G GC GC vitamin D binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr13:60,795,305...60,828,038
Ensembl chr13:60,795,305...60,827,929
JBrowse link
G GFER growth factor, augmenter of liver regeneration treatment ISO protein:increased expression:cortex of kidney,renal medulla:
CTD Direct Evidence: therapeutic
RGD
CTD
PMID:20030531 RGD:9685736 NCBI chr 6:38,948,927...38,951,300 JBrowse link
G GHRL ghrelin and obestatin prepropeptide ISO RGD PMID:19625378 RGD:7242430 NCBI chr20:8,092,921...8,097,512
Ensembl chr20:8,092,957...8,097,510
JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO protein:decreased activity:kidney (rat) RGD PMID:23924727 RGD:13506245 NCBI chr 2:57,968,833...57,994,219
Ensembl chr 2:57,968,833...57,994,218
JBrowse link
G GPNMB glycoprotein nmb ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chr14:36,919,184...36,947,023
Ensembl chr14:36,919,296...36,946,643
JBrowse link
G GSK3B glycogen synthase kinase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:22785175 NCBI chr33:23,458,369...23,659,878
Ensembl chr33:23,463,767...23,659,666
JBrowse link
G GSR glutathione-disulfide reductase ISO protein:decreased activity:kidney:
glycerol-induced
RGD PMID:1870354, PMID:22286819 RGD:7257559, RGD:7257585 NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752
JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:20623750, PMID:20798258 RGD:6903954 NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182
JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 ISO protein:increased expression:urine
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 4:53,012,223...53,066,611
Ensembl chr 4:53,046,970...53,128,952
Ensembl chr 4:53,046,970...53,128,952
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 2:35,551,248...35,563,310
Ensembl chr 2:35,551,250...35,563,043
JBrowse link
G HDAC2 histone deacetylase 2 treatment ISO associated with sepsis; RGD PMID:22933299 RGD:9590257 NCBI chr12:70,053,822...70,083,491
Ensembl chr12:70,053,297...70,103,578
JBrowse link
G HDAC3 histone deacetylase 3 ISO RGD PMID:21416250 RGD:10047111 NCBI chr 2:36,583,283...36,598,121
Ensembl chr 2:36,583,283...36,597,682
JBrowse link
G HDAC5 histone deacetylase 5 treatment ISO associated with sepsis; RGD PMID:21416250, PMID:22933299 RGD:10047111, RGD:9590257 NCBI chr 9:19,261,075...19,297,669
Ensembl chr 9:19,260,893...19,297,623
JBrowse link
G HEXB hexosaminidase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:22005293 NCBI chr 2:57,221,809...57,248,432
Ensembl chr 2:57,222,186...57,248,417
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 chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO associated with Sepsis RGD PMID:16557230 RGD:5508471 NCBI chr 3:30,970,037...30,988,987
Ensembl chr 3:30,970,037...30,990,294
JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO CTD Direct Evidence: therapeutic
associated with Sepsis
CTD
RGD
PMID:21048024, PMID:23807243 RGD:10755583 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773
JBrowse link
G HPX hemopexin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr21:29,749,913...29,759,176
Ensembl chr21:29,719,589...29,759,046
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 chr 5:11,292,219...11,296,851
Ensembl chr 5:11,292,262...11,296,797
JBrowse link
G ICAM1 intercellular adhesion molecule 1 treatment ISO RGD PMID:22659586 RGD:7175102 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
JBrowse link
G IGF1 insulin like growth factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:7540432 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
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 chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387
JBrowse link
G IGFBP1 insulin like growth factor binding protein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:7540432 NCBI chr16:1,037,169...1,040,996
Ensembl chr16:1,037,162...1,167,094
JBrowse link
G IL10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18460982 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G IL18 interleukin 18 ISO RGD PMID:11342578 RGD:6893450 NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
JBrowse link
G IL1A interleukin 1 alpha ISO RGD PMID:21716595 RGD:6907069 NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
JBrowse link
G IL1B interleukin 1 beta ISO mRNA:increased expression:kidney, liver, spleen (mouse)
protein:increased expression:kidney (rat)
RGD PMID:21677145, PMID:22286667, PMID:22659586, PMID:22750969 RGD:7175094, RGD:7175102, RGD:7175258, RGD:7175314 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G IL1RN interleukin 1 receptor antagonist 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 chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
JBrowse link
G IL20 interleukin 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18496552 NCBI chr 7:6,019,879...6,022,707
Ensembl chr 7:6,019,442...6,023,219
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 chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G INS insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12243603 NCBI chr18:46,324,047...46,324,933
Ensembl chr18:46,324,041...46,325,122
JBrowse link
G KLK1 kallikrein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18227104 NCBI chr 1:106,009,125...106,028,331
Ensembl chr 1:105,963,564...106,028,331
JBrowse link
G KNG1 kininogen 1 ISO CTD Direct Evidence: therapeutic CTD PMID:513486, PMID:3015452 NCBI chr34:19,288,629...19,318,096
Ensembl chr34:19,287,109...19,318,081
JBrowse link
G LCN2 lipocalin 2 ISO protein:increased expression:urine
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:20623750, PMID:22005293, PMID:23052191, PMID:23683031, PMID:27888128, PMID:28885000 RGD:7244370 NCBI chr 9:55,328,118...55,342,535
Ensembl chr 9:55,328,133...55,332,038
JBrowse link
G LGALS3 galectin 3 ISO mRNA:increased expression:kidney RGD PMID:10980121 RGD:9685228 NCBI chr 8:30,977,438...30,994,711
Ensembl chr 8:30,983,633...30,994,705
JBrowse link
G LOC100685620 alpha-1-acid glycoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr11:68,557,340...68,560,079 JBrowse link
G LOC100856782 T-complex protein 1 subunit eta ISO CTD Direct Evidence: marker/mechanism CTD PMID:31825490
G LOC477072 serotransferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr23:30,658,250...30,683,816
Ensembl chr23:30,595,704...30,683,845
JBrowse link
G LOC477699 alpha-2-macroglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chr27:36,654,328...36,695,775 JBrowse link
G LOC479668 haptoglobin-like ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:19270397, PMID:28885000 RGD:11041863 NCBI chr 5:77,795,183...77,800,034 JBrowse link
G LOC485255 hemoglobin subunit epsilon-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:562503, PMID:851170 NCBI chr21:28,193,163...28,194,746 JBrowse link
G LOC607874 cystatin-C-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:22005293, PMID:28885000 NCBI chr23:49,562...53,618 JBrowse link
G LRP2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29286200 NCBI chr36:13,910,450...14,107,081
Ensembl chr36:13,911,865...14,107,546
JBrowse link
G MB myoglobin ISO protein: increased expression: serum RGD PMID:9822635, PMID:23497406 RGD:7244253, RGD:7244259 NCBI chr10:28,573,819...28,583,526
Ensembl chr10:28,552,749...28,583,522
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO protein:increased expression:renal parenchyma (rat) RGD PMID:17940345 RGD:2317469 NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027
JBrowse link
G MFN1 mitofusin 1 ISO protein:decreased expression:kidney (rat) RGD PMID:26480480 RGD:12910862 NCBI chr34:12,785,799...12,816,881
Ensembl chr34:12,785,856...12,815,994
JBrowse link
G MIR10A microRNA mir-10a ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 9:24,842,171...24,842,233
Ensembl chr 9:24,842,145...24,842,248
JBrowse link
G MIR122 microRNA mir-122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 1:17,593,858...17,593,915
Ensembl chr 1:17,593,837...17,593,929
JBrowse link
G MIR140 microRNA mir-140 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 5:79,814,256...79,814,316
Ensembl chr 5:79,814,246...79,814,326
JBrowse link
G MIR143 microRNA mir-143 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 4:59,534,535...59,534,589
Ensembl chr 4:59,534,535...59,534,594
JBrowse link
G MIR146B microRNA mir-146b ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr28:14,940,550...14,940,610
Ensembl chr28:14,940,550...14,940,610
JBrowse link
G MIR148A microRNA mir-148a ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr14:39,301,847...39,301,906
Ensembl chr14:39,301,843...39,301,920
JBrowse link
G MIR151 microRNA mir-151 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr13:35,353,689...35,353,744
Ensembl chr13:35,353,689...35,353,744
JBrowse link
G MIR152 microRNA mir-152 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32583487 NCBI chr 9:24,335,161...24,335,219
Ensembl chr 9:24,335,146...24,335,225
JBrowse link
G MIR192 microRNA mir-192 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr18:52,281,129...52,281,193
Ensembl chr18:52,281,129...52,281,193
JBrowse link
G MIR23A microRNA mir-23a ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr20:48,620,335...48,620,386
Ensembl chr20:48,620,323...48,620,397
JBrowse link
G MIR25 microRNA mir-25 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 6:9,498,993...9,499,051
Ensembl chr 6:9,498,993...9,499,051
JBrowse link
G MIR26A-1 microRNA mir-26a-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr23:7,747,073...7,747,133
Ensembl chr23:7,747,064...7,747,140
JBrowse link
G MIR30A microRNA mir-30a ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr12:33,783,894...33,783,956
Ensembl chr12:33,783,891...33,783,961
JBrowse link
G MIR30D microRNA mir-30d ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr13:30,910,306...30,910,365
Ensembl chr13:30,910,306...30,910,365
JBrowse link
G MIR99A-1 microRNA mir-99a-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr31:13,258,782...13,258,840
Ensembl chr31:13,258,782...13,258,840
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 chr 9:32,927,483...32,938,007
Ensembl chr 9:32,927,483...32,937,820
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17387702 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO RGD PMID:23022334 RGD:7245507 NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114
JBrowse link
G MUC20 mucin 20, cell surface associated ISO RGD PMID:14565953 RGD:7364790 NCBI chr33:29,044,104...29,055,583
Ensembl chr33:29,045,880...29,055,479
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor susceptibility ISO protein:decreased phosphorylation:kidney (mouse) RGD PMID:23228991 RGD:7207407 NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309
JBrowse link
G NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 ISO RGD PMID:22160772 RGD:13801199 NCBI chr28:13,249,067...13,253,670
Ensembl chr28:13,249,070...13,253,619
JBrowse link
G NES nestin ISO RGD PMID:24503548 RGD:11570523 NCBI chr 7:41,296,395...41,305,641
Ensembl chr 7:41,295,989...41,303,736
JBrowse link
G NFE2L2 nuclear factor, erythroid 2 like 2 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:24291173, PMID:24958931 RGD:10412697 NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524
JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29286200 NCBI chr32:23,948,598...24,040,704
Ensembl chr32:23,942,954...24,040,703
JBrowse link
G NOS1 nitric oxide synthase 1 ISO RGD PMID:14531809 RGD:13825139 NCBI chr26:13,787,341...13,895,176
Ensembl chr26:13,786,309...13,962,332
JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9810145 NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588
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 chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
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 2:84,406,317...84,408,115
Ensembl chr 2:84,396,073...84,408,385
JBrowse link
G NPPB natriuretic peptide B ISO associated with Myocardial Infarction;protein:increased expression:serum:
associated with lung diseases;protein:increased expression:serum:
mRNA:increased expression:kidney
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 2:84,395,844...84,397,473 JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:26723870, PMID:28230744 RGD:13440091 NCBI chr 5:79,979,593...79,990,875
Ensembl chr 5:79,978,865...79,989,860
JBrowse link
G OCLN occludin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19766176 NCBI chr 2:54,500,299...54,545,430
Ensembl chr 2:54,500,299...54,545,430
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO RGD PMID:21884784 RGD:5510015 NCBI chr 7:38,503,072...38,542,556
Ensembl chr 7:38,503,067...38,542,127
JBrowse link
G PKD2 polycystin 2, transient receptor potential cation channel ISO protein:altered localization RGD PMID:12089381 RGD:7175293 NCBI chr32:11,383,441...11,437,603
Ensembl chr32:11,383,424...11,435,438
JBrowse link
G PLAT plasminogen activator, tissue type ISO protein:increased expression:plasma (human) RGD PMID:9767551 RGD:11541071 NCBI chr16:23,469,590...23,496,013 JBrowse link
G PLG plasminogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 1:49,497,229...49,535,260
Ensembl chr 1:49,497,229...49,535,260
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:17216604 NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma treatment ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD
PMID:17494862, PMID:20623750, PMID:24011919, PMID:24433871 RGD:8553020 NCBI chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO associated with Endotoxemia; mRNA:decreased expression:kidney (mouse) RGD PMID:21881206 RGD:7242026 NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269
JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa treatment ISO RGD PMID:19092124 RGD:11250410 NCBI chr19:23,173,626...23,183,634
Ensembl chr19:23,173,635...23,183,563
JBrowse link
G PROCR protein C receptor treatment ISO associated with Sepsis RGD PMID:23807243 RGD:10755583 NCBI chr24:24,184,063...24,188,452
Ensembl chr24:24,184,370...24,187,910
JBrowse link
G PTAFR platelet activating factor receptor treatment ISO associated with Endotoxemia RGD PMID:2538527 RGD:10043182 NCBI chr 2:72,225,386...72,256,353
Ensembl chr 2:72,225,386...72,256,352
JBrowse link
G PTGER4 prostaglandin E receptor 4 treatment ISO RGD PMID:16871242 RGD:10003092 NCBI chr 4:68,663,362...68,676,241
Ensembl chr 4:68,663,364...68,676,358
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:21893983 RGD:5508181 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
JBrowse link
G RAPGEF3 Rap guanine nucleotide exchange factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21745194 NCBI chr27:6,993,452...7,030,372
Ensembl chr27:6,993,452...7,017,316
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO associated with Sepsis;protein:increased phosphorylation:kidney RGD PMID:19428114 RGD:8547990 NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726
JBrowse link
G SCGB1A1 secretoglobin family 1A member 1 ISO associated with LPS induced endotoxemia RGD PMID:18824919 RGD:2313129 NCBI chr18:54,187,487...54,191,493
Ensembl chr18:54,187,487...54,191,482
JBrowse link
G SERPINA1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 8:63,388,498...63,400,377
Ensembl chr 8:63,376,945...63,398,435
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 7:25,322,668...25,333,022
Ensembl chr 7:25,316,129...25,332,987
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 chr 4:19,188,616...19,220,031
Ensembl chr 4:19,188,675...19,218,279
JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20623750 NCBI chr37:25,039,203...25,047,461
Ensembl chr37:25,038,360...25,047,282
JBrowse link
G SLC22A1 solute carrier family 22 member 1 treatment ISO RGD PMID:22414646 RGD:7243179 NCBI chr 1:49,268,978...49,296,522 JBrowse link
G SLC22A12 solute carrier family 22 member 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14655203 NCBI chr18:52,541,820...52,550,037
Ensembl chr18:52,542,497...52,549,655
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 1:49,327,621...49,348,435
Ensembl chr 1:49,327,296...49,348,435
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 4:35,961,394...35,973,733
Ensembl chr 4:35,961,958...35,973,657
JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:11274264, PMID:20623750, PMID:22863853 RGD:6903264 NCBI chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069
JBrowse link
G TFF3 trefoil factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chr31:36,638,762...36,641,696 JBrowse link
G TGFA transforming growth factor alpha ISO mRNA:increased expression:kidney RGD PMID:11340354 RGD:10395241 NCBI chr10:68,915,671...68,957,027 JBrowse link
G THBD thrombomodulin treatment ISO RGD PMID:17804460, PMID:19176699 RGD:5684994, RGD:5685010 NCBI chr24:599,773...601,649
Ensembl chr24:599,773...601,649
JBrowse link
G TLR2 toll like receptor 2 ISO CTD Direct Evidence: marker/mechanism
associated with Sepsis
CTD
RGD
PMID:22655058, PMID:29286200 RGD:7207898 NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
JBrowse link
G TLR4 toll like receptor 4 treatment ISO CTD Direct Evidence: marker/mechanism
associated with Sepsis
RGD
CTD
PMID:16638912, PMID:22266601, PMID:22655058, PMID:29286200 RGD:6892690, RGD:7207898, RGD:7241084 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
JBrowse link
G TLR9 toll like receptor 9 ISO associated with Sepsis RGD PMID:23548820 RGD:7245966 NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
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 chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G TNFRSF12A TNF receptor superfamily member 12A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chr 6:38,166,160...38,168,189
Ensembl chr 6:38,166,160...38,168,189
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A susceptibility ISO associated with Acute Lung Injury
associated with Shock, Septic;protein:increased expression:serum
associated with Endotoxemia
RGD PMID:12023385, PMID:12500222, PMID:18074478, PMID:21150875 RGD:5128661, RGD:7245534, RGD:7245535, RGD:7245548 NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO associated with Shock, Septic;protein:increased expression:serum
associated with Acute Lung Injury
RGD PMID:12500222, PMID:12865254, PMID:18074478 RGD:5128661, RGD:7245532, RGD:7245534 NCBI chr 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20603111 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
G TTR transthyretin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 7:57,940,354...57,947,084
Ensembl chr 7:57,914,381...57,947,058
JBrowse link
G UTS2R urotensin 2 receptor ISO RGD PMID:15146030 RGD:2306847
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:20943766, PMID:22808199 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
G WNT4 Wnt family member 4 ISO RGD PMID:12707392 RGD:727218 NCBI chr 2:77,112,045...77,129,702
Ensembl chr 2:77,101,300...77,127,111
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 chr17:24,900,708...24,960,748
Ensembl chr17:24,901,447...24,971,935
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 5:45,055,294...45,119,595
Ensembl chr 5:44,884,283...45,120,203
JBrowse link
G BMP7 bone morphogenetic protein 7 ISO associated with Kidney Reperfusion Injury;protein:increased expression:kidney RGD PMID:16284088 RGD:1601494 NCBI chr24:42,203,183...42,294,105
Ensembl chr24:42,204,823...42,294,653
JBrowse link
G CIITA class II major histocompatibility complex transactivator ISO mRNA:increased expression:kidney RGD PMID:9422398 RGD:7242901 NCBI chr 6:31,774,486...31,837,025
Ensembl chr 6:31,774,609...31,836,820
JBrowse link
G FABP1 fatty acid binding protein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18368030 NCBI chr17:38,242,119...38,247,969
Ensembl chr17:38,242,119...38,247,962
JBrowse link
G GSR glutathione-disulfide reductase ISO protein:decreased activity:renal cortex: RGD PMID:12885594, PMID:17078987 RGD:7257555, RGD:7257573 NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752
JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 ISO protein:increased expression:kidney tubule, urine: RGD PMID:12081583 RGD:7245970 NCBI chr 4:53,012,223...53,066,611
Ensembl chr 4:53,046,970...53,128,952
Ensembl chr 4:53,046,970...53,128,952
JBrowse link
G LOC100856782 T-complex protein 1 subunit eta ISO CTD Direct Evidence: marker/mechanism CTD PMID:31825490
G NOG noggin ISO associated with Kidney Reperfusion Injury RGD PMID:16284088 RGD:1601494 NCBI chr 9:31,453,604...31,456,060 JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:4358912, PMID:6254450 NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19834340 NCBI chr10:19,934,020...20,006,096
Ensembl chr10:19,934,165...20,006,146
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:19917352 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
JBrowse link
G TEK TEK receptor tyrosine kinase ISO associated with Kidney Reperfusion Injury RGD PMID:16284088 RGD:1601494 NCBI chr11:45,278,375...45,377,300
Ensembl chr11:45,278,891...45,409,093
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 chr37:24,831,351...24,846,387
Ensembl chr37:24,843,171...24,844,247
JBrowse link
Acute Tubulointerstitial Nephritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOA1 apolipoprotein A1 ISO RGD PMID:22659101 RGD:7241207 NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943
JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:22194975 RGD:7207900 NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
JBrowse link
G TLR4 toll like receptor 4 ISO RGD PMID:22194975 RGD:7207900 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
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 chr 5:64,563,154...64,565,537
Ensembl chr 5:64,563,192...64,565,445
JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency ClinVar PMID:25741868, PMID:28492532 NCBI chr 5:64,534,194...64,562,169
Ensembl chr 5:64,534,131...64,562,169
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:88,703,551...88,708,451
Ensembl chr  X:88,705,765...88,706,853
JBrowse link
G EGF epidermal growth factor ISO RGD PMID:19357719 RGD:6906909 NCBI chr32:30,073,541...30,166,904
Ensembl chr32:30,073,950...30,166,295
JBrowse link
G LOC479668 haptoglobin-like ISO protein:increased expression:urine RGD PMID:19279121 RGD:11041816 NCBI chr 5:77,795,183...77,800,034 JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO RGD PMID:23678040 RGD:7245474 NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114
JBrowse link
G MYH9 myosin heavy chain 9 ISO protein:decreased expression:glomerulus RGD PMID:22313957 RGD:6903274 NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953
JBrowse link
G NOTCH4 notch receptor 4 ISO protein: increased expression: kidney RGD PMID:20706108 RGD:6480788 NCBI chr12:1,585,249...1,608,721
Ensembl chr12:1,587,918...1,607,760
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 Diabetes Mellitus, Type 1;protein:increased activity:serum (human)
CTD Direct Evidence: marker/mechanism
associated with Diabetic Nephropathies
RGD
CTD
PMID:1336356, PMID:16902320, PMID:23733546 RGD:12879427, RGD:7829770 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
JBrowse link
G ADM adrenomedullin ISO associated with Hypertension RGD PMID:19424162 RGD:2313311 NCBI chr21:33,472,197...33,474,472
Ensembl chr21:33,471,623...33,474,495
JBrowse link
G AGER advanced glycosylation end-product specific receptor treatment ISO associated with Diabetes Mellitus, Experimental
associated with Diabetes Mellitus, Type 2; protein:increased expression:serum (human)
associated with Diabetic Nephropathies
RGD PMID:20627935, PMID:21607631, PMID:21796806 RGD:7243944, RGD:7244135, RGD:7244184 NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129
JBrowse link
G AGT angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:12414515, PMID:18679781, PMID:21896938 NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880
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 chr14:2,991,888...3,006,941
Ensembl chr14:2,991,888...3,006,940
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 chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709
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 chr 5:32,026,193...32,038,698
Ensembl chr 5:31,882,501...32,038,119
JBrowse link
G B2M beta-2-microglobulin ISO associated with HIV infections;protein:increased expression:urine RGD PMID:18469311 RGD:6482713 NCBI chr30:11,331,574...11,337,991
Ensembl chr30:11,331,569...11,337,997
JBrowse link
G CASR calcium sensing receptor ISO associated with Uremia RGD PMID:19188910 RGD:7205661 NCBI chr33:25,340,822...25,432,814
Ensembl chr33:25,405,846...25,432,559
JBrowse link
G CCL4 chemokine (C-C motif) ligand 4 ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:urine RGD PMID:21113841 RGD:5683918 NCBI chr 9:37,681,342...37,682,691
Ensembl chr 9:37,676,966...37,710,209
JBrowse link
G CD38 CD38 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21992601 NCBI chr 3:64,529,129...64,577,755
Ensembl chr 3:64,529,721...64,578,099
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 chr 6:31,774,486...31,837,025
Ensembl chr 6:31,774,609...31,836,820
JBrowse link
G CP ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21752484 NCBI chr23:43,969,297...44,033,226
Ensembl chr23:43,969,435...44,030,369
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 chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166
JBrowse link
G CSF1 colony stimulating factor 1 treatment ISO associated with Hypercholesterolemia and Diabetes Mellitus, Experimental RGD PMID:8573750 RGD:7257591 NCBI chr 6:42,028,454...42,047,028
Ensembl chr 6:42,034,149...42,049,371
JBrowse link
G CTSB cathepsin B ISO associated with Hypertension RGD PMID:19023196 RGD:2315726 NCBI chr25:26,048,237...26,056,570
Ensembl chr25:26,048,253...26,055,801
JBrowse link
G DRD1 dopamine receptor D1 ISO DNA:polymorphism:5' utr:g.-94G>A rs5326 (human) RGD PMID:17353515 RGD:7248452 NCBI chr 4:37,550,454...37,554,641
Ensembl chr 4:37,549,708...37,553,287
JBrowse link
G EDN1 endothelin 1 ISO protein:increased expression:renal papilla (rat) RGD PMID:20666571 RGD:4144838 NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383
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 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144
JBrowse link
G F7 coagulation factor VII no_association
severity
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 chr22:60,572,459...60,582,743
Ensembl chr22:60,571,822...60,597,024
JBrowse link
G FBN1 fibrillin 1 ISO associated with Hypertension RGD PMID:16380460 RGD:7365080 NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151
JBrowse link
G GGT1 gamma-glutamyltransferase 1 ISO associated with Diabetes Mellitus; protein:increased activity:serum RGD PMID:15890893 RGD:2315606 NCBI chr26:28,301,455...28,315,029 JBrowse link
G GNAQ G protein subunit alpha q ISO CTD Direct Evidence: marker/mechanism CTD PMID:16267159 NCBI chr 1:80,733,530...80,928,065
Ensembl chr 1:80,715,366...80,928,065
JBrowse link
G GPC5 glypican 5 ISO CTD Direct Evidence: therapeutic CTD PMID:21441931 NCBI chr22:42,526,426...43,873,992
Ensembl chr22:42,526,054...43,870,405
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 4:53,012,223...53,066,611
Ensembl chr 4:53,046,970...53,128,952
Ensembl chr 4:53,046,970...53,128,952
JBrowse link
G IGF1 insulin like growth factor 1 susceptibility ISO RGD PMID:16645019 RGD:1598420 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
JBrowse link
G IL1B interleukin 1 beta ISO RGD PMID:23103566 RGD:7175089 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17167242 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G INS insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:9861226, PMID:29420703 NCBI chr18:46,324,047...46,324,933
Ensembl chr18:46,324,041...46,325,122
JBrowse link
G LEPR leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17065336, PMID:20175764, PMID:23159718, PMID:28130181, PMID:29988851 NCBI chr 5:44,684,118...44,775,626
Ensembl chr 5:44,688,109...44,775,636
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 chr30:23,432,460...23,584,037
Ensembl chr30:23,432,493...23,584,037
JBrowse link
G LOC607874 cystatin-C-like ISO associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human) RGD PMID:19596469 RGD:2314309 NCBI chr23:49,562...53,618 JBrowse link
G LRP2 LDL receptor related protein 2 ISO RGD PMID:12121845 RGD:1641839 NCBI chr36:13,910,450...14,107,081
Ensembl chr36:13,911,865...14,107,546
JBrowse link
G MIR130A microRNA mir-130a ISO CTD Direct Evidence: marker/mechanism CTD PMID:24223694 NCBI chr18:38,543,618...38,543,679
Ensembl chr18:38,543,618...38,543,681
JBrowse link
G MIR145 microRNA mir-145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24223694 NCBI chr 4:59,533,128...59,533,210
Ensembl chr 4:59,533,128...59,533,210
JBrowse link
G MIR155 microRNA mir-155 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24223694 NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833
JBrowse link
G MIR424 microRNA mir-424 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24223694 NCBI chr  X:105,183,437...105,183,493
Ensembl chr  X:105,183,437...105,183,493
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 chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
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 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G MYH9 myosin heavy chain 9 ISO associated with hypertension;DNA:SNPs: : RGD PMID:19153477 RGD:6903241 NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953
JBrowse link
G NCK1 NCK adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr23:33,297,660...33,374,025
Ensembl chr23:33,297,756...33,372,534
JBrowse link
G NCK2 NCK adaptor protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr10:37,584,351...37,734,388
Ensembl chr10:37,585,565...37,732,994
JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15684566 NCBI chr 1:116,794,891...116,814,418
Ensembl chr 1:116,794,433...116,813,546
JBrowse link
G NPHS2 NPHS2 stomatin family member, podocin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15684566 NCBI chr 7:20,347,526...20,375,975
Ensembl chr 7:20,354,134...20,374,020
JBrowse link
G PDPN podoplanin ISO RGD PMID:18199599 RGD:2292240 NCBI chr 2:83,552,735...83,581,375
Ensembl chr 2:83,552,830...83,581,375
JBrowse link
G PON1 paraoxonase 1 ISO DNA:polymorphisms:promoter, cds (human) RGD PMID:16949520 RGD:2313272 NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985
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 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17890881 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
JBrowse link
G PTH parathyroid hormone ISO associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human) RGD PMID:23066118 RGD:7242730 NCBI chr21:36,417,062...36,419,967
Ensembl chr21:36,417,058...36,419,967
JBrowse link
G PYCARD PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 6:17,049,352...17,051,348
Ensembl chr 6:17,049,705...17,051,240
JBrowse link
G RAB38 RAB38, member RAS oncogene family ISO RGD PMID:15758045 RGD:1357409 NCBI chr21:11,769,924...11,823,546
Ensembl chr21:11,769,351...11,822,815
JBrowse link
G REN renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12414515, PMID:18679781 NCBI chr38:744,540...766,998
Ensembl chr38:744,614...755,012
JBrowse link
G RETN resistin ISO associated with Hypertension;protein:increased expression:blood RGD PMID:20203628 RGD:7207150 NCBI chr20:52,434,148...52,435,627
Ensembl chr20:52,434,271...52,435,624
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 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
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 chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765
JBrowse link
G SH2B3 SH2B adaptor protein 3 ISO RGD PMID:25776069 RGD:13442483 NCBI chr26:9,033,851...9,073,095
Ensembl chr26:9,005,281...9,070,204
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17942768 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:18443355 RGD:6903862 NCBI chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17167242 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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 chr19:18,207,565...18,272,551
Ensembl chr19:18,207,417...18,271,828
JBrowse link
G TRPC5 transient receptor potential cation channel subfamily C member 5 ISO RGD PMID:24231357 RGD:10043830 NCBI chr  X:84,835,130...84,989,609
Ensembl chr  X:84,801,096...85,116,625
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 chr 5:29,897,378...30,007,885
Ensembl chr 5:29,897,210...30,007,723
JBrowse link
G TSLP thymic stromal lymphopoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17686814 NCBI chr 3:1,502,469...1,507,696
Ensembl chr 3:1,503,188...1,507,696
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 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933
JBrowse link
Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A3 collagen type IV alpha 3 chain susceptibility ISO DNA:deletion, nonsense mutations
ClinVar Annotator: match by term: Alport syndrome
ClinVar Annotator: match by term: Alport syndrome, autosomal dominant
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
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 chr25:39,975,547...40,106,833
Ensembl chr25:39,975,586...40,104,782
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 chr25:39,849,680...39,976,035
Ensembl chr25:39,854,388...39,976,189
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:81,982,119...82,248,428
Ensembl chr  X:81,982,275...82,247,679
JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain susceptibility ISO DNA:polymorphism: :HLA-DRB1*16(human) RGD PMID:15182324 RGD:7365078 NCBI chr12:2,151,409...2,164,564 JBrowse link
G IL1B interleukin 1 beta ISO RGD PMID:22937108 RGD:7175090 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G MMP12 matrix metallopeptidase 12 ISO RGD PMID:16816359 RGD:7241212 NCBI chr 5:28,918,626...28,933,404
Ensembl chr 5:28,918,594...28,933,309
JBrowse link
G MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) ISO protein:increased expression:kidney RGD PMID:16509766 RGD:7241252 NCBI chr 5:28,949,631...28,957,915
Ensembl chr 5:28,949,631...28,958,222
JBrowse link
G MYH9 myosin heavy chain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10973259 NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953
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 chr 9:15,205,887...15,218,873
Ensembl chr 9:15,207,300...15,230,447
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 chr 9:15,180,940...15,203,035
Ensembl chr 9:15,181,393...15,200,683
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:81,690,047...81,981,005
Ensembl chr  X:81,691,417...81,980,703
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 mRNA, protein:increased expression:liver, plasma
protein:increased expression:kidney, urine
RGD PMID:7550093, PMID:21282555 RGD:11039051, RGD:5129185 NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO protein:increased expression:kidney RGD PMID:21282555 RGD:5129185 NCBI chr23:43,569,658...43,617,113
Ensembl chr23:43,614,035...43,616,238
JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO mRNA, protein:increased expression:kidney RGD PMID:12234300 RGD:1579984 NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO mRNA, protein:decreased expression:kidney RGD PMID:12234300 RGD:1579984 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
JBrowse link
G CCL17 C-C motif chemokine ligand 17 ISO mRNA:increased expression:glomerulus RGD PMID:20071465 RGD:4145614 NCBI chr 2:59,001,463...59,014,347
Ensembl chr 2:59,001,464...59,005,230
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 chr 9:39,008,187...39,009,932 JBrowse link
G CCL22 C-C motif chemokine ligand 22 ISO mRNA, protein:increased expression:glomerulus RGD PMID:12651599 RGD:2306306 NCBI chr 2:59,039,650...59,045,519
Ensembl chr 2:59,040,539...59,045,625
JBrowse link
G CCL4 chemokine (C-C motif) ligand 4 ISO mRNA:increased expression:glomerulus RGD PMID:17898087 RGD:2307059 NCBI chr 9:37,681,342...37,682,691
Ensembl chr 9:37,676,966...37,710,209
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:glomerulus RGD PMID:17898087 RGD:2307059 NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852
JBrowse link
G CD274 CD274 molecule treatment ISO RGD PMID:21965585 RGD:7248671 NCBI chr 1:93,461,735...93,605,772
Ensembl chr 1:93,585,518...93,603,522
JBrowse link
G CD40 CD40 molecule ISO RGD PMID:15210767 RGD:7248442 NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:15458437 RGD:5508170 NCBI chr  X:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006
JBrowse link
G CD80 CD80 molecule ISO RGD PMID:10712436 RGD:6902936 NCBI chr33:23,177,136...23,208,421
Ensembl chr33:23,177,138...23,201,380
JBrowse link
G CFB complement factor B ISO RGD PMID:22492944 RGD:7242700 NCBI chr12:1,400,143...1,406,267 JBrowse link
G CLU clusterin ISO protein:increased expression:urine RGD PMID:23791361 RGD:9068422 NCBI chr25:29,982,811...29,999,565
Ensembl chr25:29,982,811...29,999,563
JBrowse link
G CSF1 colony stimulating factor 1 treatment ISO RGD PMID:19242505 RGD:7257569 NCBI chr 6:42,028,454...42,047,028
Ensembl chr 6:42,034,149...42,049,371
JBrowse link
G CSF1R colony stimulating factor 1 receptor treatment ISO RGD PMID:19242505 RGD:7257569 NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 treatment ISO RGD PMID:8206086, PMID:10712436 RGD:11352257, RGD:6902936 NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO mRNA, protein:increased expression:glomerulus RGD PMID:19590241 RGD:4891946 NCBI chr 2:59,022,794...59,032,095
Ensembl chr 2:59,022,794...59,032,095
JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO mRNA, protein:increased expression:glomerulus RGD PMID:19590241 RGD:4891946 NCBI chr23:8,937,069...8,954,738
Ensembl chr23:8,938,906...8,952,808
JBrowse link
G CXCL12 C-X-C motif chemokine ligand 12 ISO mRNA:increased expression:glomerulus RGD PMID:17557270 RGD:2306579 NCBI chr28:2,895,916...2,903,543 JBrowse link
G DUSP1 dual specificity phosphatase 1 ISO mRNA:increased expression:glomerulus RGD PMID:8587253 RGD:633769 NCBI chr 4:39,588,833...39,591,065
Ensembl chr 4:39,588,339...39,590,514
JBrowse link
G GP6 glycoprotein VI platelet ISO RGD PMID:20651232 RGD:7242710 NCBI chr 1:102,586,229...102,612,067
Ensembl chr 1:102,585,544...102,613,905
JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain susceptibility ISO DNA:polymorphism (human) RGD PMID:21569485 RGD:5147561 NCBI chr12:2,151,409...2,164,564 JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:23826305 RGD:7365004 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G IL17A interleukin 17A treatment ISO RGD PMID:23826305 RGD:7365004 NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513
JBrowse link
G IL18 interleukin 18 ISO RGD PMID:22046355 RGD:6893447 NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
JBrowse link
G IL1B interleukin 1 beta ISO mRNA:increased expression:kidney (mouse)
mRNA, protein:increased expression:kidney
RGD PMID:9198037, PMID:22046355 RGD:6893447, RGD:7401232 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO RGD PMID:20071465 RGD:4145614 NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
JBrowse link
G IL4 interleukin 4 ISO RGD PMID:9350645, PMID:17898087 RGD:2307059, RGD:2317673 NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
JBrowse link
G ITGA4 integrin subunit alpha 4 treatment ISO RGD PMID:7679412, PMID:9032136 RGD:2308810, RGD:9698425 NCBI chr36:24,670,464...24,686,719
Ensembl chr36:24,653,408...24,729,057
JBrowse link
G LOC478984 low affinity immunoglobulin gamma Fc region receptor III no_association ISO DNA:polymorphism:exon:(rs396991)(human)
DNA:cnv: :
RGD PMID:19640933, PMID:19946017 RGD:5508400, RGD:5508403 NCBI chr38:21,054,870...21,060,948 JBrowse link
G LOC490356 cytokine SCM-1 beta ISO mRNA:increased expression:glomerulus RGD PMID:9717977 RGD:8693304 NCBI chr 7:29,986,433...29,991,096 JBrowse link
G MAPK14 mitogen-activated protein kinase 14 ISO RGD PMID:21894146 RGD:6218988 NCBI chr12:5,145,647...5,221,558
Ensembl chr12:5,146,037...5,220,603
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 ISO RGD PMID:21894146 RGD:6218988 NCBI chr28:323,361...410,367
Ensembl chr28:368,513...406,401
JBrowse link
G MMP12 matrix metallopeptidase 12 ISO RGD PMID:21894146 RGD:6218988 NCBI chr 5:28,918,626...28,933,404
Ensembl chr 5:28,918,594...28,933,309
JBrowse link
G MMP14 matrix metallopeptidase 14 ISO mRNA:increased expression:kidney, macrophage RGD PMID:10878552 RGD:2314954 NCBI chr 8:3,183,419...3,193,079
Ensembl chr 8:3,183,606...3,194,122
JBrowse link
G NOS2 nitric oxide synthase 2 ISO RGD PMID:21894146 RGD:6218988 NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588
JBrowse link
G NPPB natriuretic peptide B ISO RGD PMID:11729234 RGD:7248605 NCBI chr 2:84,395,844...84,397,473 JBrowse link
G PDCD1 programmed cell death 1 treatment ISO RGD PMID:21965585 RGD:7248671 NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO RGD PMID:17888025 RGD:5563035 NCBI chr10:19,934,020...20,006,096
Ensembl chr10:19,934,165...20,006,146
JBrowse link
G PTK2B protein tyrosine kinase 2 beta ISO protein:increased expression:glomerulus RGD PMID:11774117 RGD:729912 NCBI chr25:30,137,546...30,264,221
Ensembl chr25:30,138,209...30,264,133
JBrowse link
G RAPGEF1 Rap guanine nucleotide exchange factor 1 ISO protein:increased expression:renal glomerulus RGD PMID:18784646 RGD:11534983 NCBI chr 9:52,429,204...52,566,775
Ensembl chr 9:52,450,597...52,563,778
JBrowse link
G SELP selectin P ISO RGD PMID:21894146 RGD:6218988 NCBI chr 7:28,956,428...28,997,266
Ensembl chr 7:28,958,486...28,996,313
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 4:35,961,394...35,973,733
Ensembl chr 4:35,961,958...35,973,657
JBrowse link
G SLIT2 slit guidance ligand 2 ISO mRNA:decreased expression:kidney, glomerulus RGD PMID:15215188 RGD:2316132 NCBI chr 3:88,964,707...89,311,817
Ensembl chr 3:88,966,232...89,312,955
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:20504883 RGD:6903276 NCBI chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069
JBrowse link
G SYK spleen associated tyrosine kinase ISO RGD PMID:21894146 RGD:6218988 NCBI chr 1:95,903,501...95,955,577
Ensembl chr 1:95,903,566...95,955,583
JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:21894146 RGD:6218988 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO protein:increased expression:urine, serum: RGD PMID:23460853 RGD:7241232 NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933
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 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880
JBrowse link
G ALB albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6734075 NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709
JBrowse link
G PLAU plasminogen activator, urokinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8225663 NCBI chr 4:24,329,139...24,333,893
Ensembl chr 4:24,328,925...24,334,851
JBrowse link
G PRKAB1 protein kinase AMP-activated non-catalytic subunit beta 1 treatment ISO RGD PMID:27782167 RGD:39128183 NCBI chr26:15,706,583...15,716,612
Ensembl chr26:15,706,678...15,715,314
JBrowse link
ARC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190753 NCBI chr 8:50,233,162...50,258,030
Ensembl chr 8:50,233,917...50,254,507
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 chr 3:53,220,199...53,239,738
Ensembl chr 3:53,220,194...53,239,732
JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 ClinVar PMID:25741868, PMID:31319225 NCBI chr 8:50,233,162...50,258,030
Ensembl chr 8:50,233,917...50,254,507
JBrowse link
G VPS33B VPS33B late endosome and lysosome associated ISO OMIM NCBI chr 3:53,220,199...53,239,738
Ensembl chr 3:53,220,194...53,239,732
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 chr 8:50,233,162...50,258,030
Ensembl chr 8:50,233,917...50,254,507
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 9:49,839,252...49,867,295
Ensembl chr 9:49,839,252...49,867,295
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 chr11:58,102,057...58,116,750
Ensembl chr11:58,102,592...58,109,389
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 chr12:1,363,656...1,399,732
Ensembl chr12:1,363,803...1,399,728
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 chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
JBrowse link
G C3AR1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 ClinVar NCBI chr27:37,431,745...37,439,858
Ensembl chr27:37,433,792...37,435,246
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
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations: :multiple
DNA, protein:mutations:cds: c.858C>G, F286L, c.967A>G, K323E (human)
OMIM
ClinVar
CTD
RGD
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 chr12:1,400,143...1,406,267 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, 3
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
CTD Direct Evidence: marker/mechanism
DNA:missense mutation
DNA:nonsense mutations, missense mutations, splice-site mutation: :multiple
DNA:deletion:Cds:
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 chr38:2,878,677...2,956,226 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 chr32:29,936,447...29,986,755
Ensembl chr32:29,936,393...29,985,724
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 chr 9:31,666,727...31,690,878
Ensembl chr 9:31,667,101...31,685,464
JBrowse link
G LOC609365 CD46 molecule, complement regulatory protein-like 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)
DNA:snp:intron:c.IVS8+23T>G (rs2724374) (human)
DNA:mutations:cds:multiple (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.R69W, p.A304V (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 7:6,602,762...6,646,561 JBrowse link
G THBD thrombomodulin susceptibility
severity
no_association
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 chr24:599,773...601,649
Ensembl chr24:599,773...601,649
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 chr17:23,010,308...23,688,841
Ensembl chr17:23,010,308...23,688,841
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:59,772,067...60,107,016
Ensembl chr  X:59,774,585...60,106,980
JBrowse link
G DERL3 derlin 3 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 ClinVar PMID:28492532 NCBI chr26:28,688,307...28,690,400
Ensembl chr26:28,688,106...28,690,400
JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO OMIM NCBI chr26:28,692,610...28,728,778
Ensembl chr26:28,692,899...28,728,783
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 chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
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 chr38:21,892,995...21,936,076
Ensembl chr38:21,892,993...21,936,458
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 chr25:39,975,547...40,106,833
Ensembl chr25:39,975,586...40,104,782
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 chr25:39,849,680...39,976,035
Ensembl chr25:39,854,388...39,976,189
JBrowse link
G MYH9 myosin heavy chain 9 ISO DNA:missense mutation:exon:4270G>C,D1424H (human) RGD PMID:12500226 RGD:6902925 NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953
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, with bartter syndrome
CTD
ClinVar
PMID:11152759, PMID:12107202, PMID:12191970, PMID:12241879, PMID:15005845, PMID:17048213, PMID:25741868 NCBI chr33:25,340,822...25,432,814
Ensembl chr33:25,405,846...25,432,559
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 chr27:40,501,655...40,511,785
Ensembl chr27:40,501,731...40,509,766
JBrowse link
autosomal dominant polycystic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG2 ATP binding cassette subfamily G member 2 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr32:11,443,778...11,517,674
Ensembl chr32:11,443,780...11,517,674
JBrowse link
G ANGPT2 angiopoietin 2 ISO protein:increased expression:bile duct (rat) RGD PMID:16628643 RGD:2314213 NCBI chr16:58,404,049...58,458,344
Ensembl chr16:58,405,259...58,457,701
JBrowse link
G ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12089381 NCBI chr11:55,845,695...55,893,253
Ensembl chr11:55,847,808...55,893,257
JBrowse link
G BRD4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25877301 NCBI chr20:46,844,795...46,927,620
Ensembl chr20:46,891,514...46,927,608
JBrowse link
G BRICD5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 6:38,760,164...38,761,718
Ensembl chr 6:38,758,254...38,761,735
JBrowse link
G C9 complement C9 disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr 4:69,660,861...69,719,793
Ensembl chr 4:69,660,907...69,719,562
JBrowse link
G CASKIN1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 6:38,776,710...38,788,253
Ensembl chr 6:38,776,710...38,786,727
JBrowse link
G CD14 CD14 molecule disease_progression ISO protein:altered localization:kidney,urine RGD PMID:20555320 RGD:7204130 NCBI chr 2:35,790,505...35,792,967 JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:decreased expression:kidney RGD PMID:17714589 RGD:2289666 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281
JBrowse link
G CFB complement factor B disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr12:1,400,143...1,406,267 JBrowse link
G DMP1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr32:11,022,900...11,053,900
Ensembl chr32:11,045,508...11,053,252
JBrowse link
G DSPP dentin sialophosphoprotein ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr32:11,017,440...11,022,780 JBrowse link
G E4F1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 6:38,743,346...38,752,427
Ensembl chr 6:38,743,355...38,752,403
JBrowse link
G EDN1 endothelin 1 ISO mRNA, protein:increased expression:kidney (human) RGD PMID:12629276 RGD:4144854 NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383
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 chr32:11,993,628...12,313,165
Ensembl chr32:11,998,114...12,338,803
JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit ISO protein: increased expression: kidney RGD PMID:16049073 RGD:7242198 NCBI chr 8:48,330,856...48,334,273
Ensembl chr 8:48,331,026...48,333,467
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 chr18:54,004,296...54,019,148
Ensembl chr18:54,003,689...54,018,157
JBrowse link
G GPBAR1 G protein-coupled bile acid receptor 1 ISO mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr37:24,937,955...24,943,546
Ensembl chr37:24,940,325...24,943,421
JBrowse link
G GPRIN3 GPRIN family member 3 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr32:12,501,488...12,562,344
Ensembl chr32:12,501,577...12,503,907
JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 ISO protein:increased expression:kidney: RGD PMID:12388382 RGD:7245969 NCBI chr 4:53,012,223...53,066,611
Ensembl chr 4:53,046,970...53,128,952
Ensembl chr 4:53,046,970...53,128,952
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 chr32:11,863,987...11,977,764
Ensembl chr32:11,866,405...11,976,442
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 chr32:11,756,487...11,800,695 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 chr32:11,624,883...11,751,305
Ensembl chr32:11,694,963...11,750,719
JBrowse link
G HSD17B13 hydroxysteroid 17-beta dehydrogenase 13 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr32:10,793,211...10,813,785
Ensembl chr32:10,794,617...10,854,193
JBrowse link
G IBSP integrin binding sialoprotein ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr32:11,187,188...11,200,860
Ensembl chr32:11,187,160...11,200,846
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO protein:decreased expression:urine (human) RGD PMID:9090470 RGD:6909172 NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
JBrowse link
G ITGA8 integrin subunit alpha 8 ISO mRNA:increased expression:kidney RGD PMID:18277079 RGD:7257723 NCBI chr 2:21,034,630...21,244,304
Ensembl chr 2:21,075,653...21,241,951
JBrowse link
G KLHL8 kelch like family member 8 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr32:10,656,419...10,687,029
Ensembl chr32:10,659,240...10,686,998
JBrowse link
G LRP2 LDL receptor related protein 2 ISO RGD PMID:11841627 RGD:1641842 NCBI chr36:13,910,450...14,107,081
Ensembl chr36:13,911,865...14,107,546
JBrowse link
G LRP5 LDL receptor related protein 5 susceptibility ISO DNA:missense mutation:cds:multiple mutations (human) RGD PMID:25920554 RGD:11553546 NCBI chr18:49,439,494...49,555,375
Ensembl chr18:49,439,483...49,516,396
JBrowse link
G MEPE matrix extracellular phosphoglycoprotein ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr32:11,212,531...11,222,805
Ensembl chr32:11,212,531...11,222,805
JBrowse link
G MLST8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 6:38,759,713...38,765,556
Ensembl chr 6:38,762,103...38,765,488
JBrowse link
G MMP1 matrix metallopeptidase 1 ISO protein:increased expression:serum (human) RGD PMID:10644865 RGD:7207194 NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:plasma (human) RGD PMID:10644865 RGD:7207194 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO RGD PMID:23195001 RGD:7245504 NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114
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 chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309
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 chr32:11,956,795...11,958,754
Ensembl chr32:11,958,122...11,958,658
JBrowse link
G NUDT9 nudix hydrolase 9 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr32:10,862,532...10,887,162
Ensembl chr32:10,862,527...10,886,863
JBrowse link
G PIGY phosphatidylinositol glycan anchor biosynthesis class Y ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr32:11,808,967...11,812,436 JBrowse link
G PITX2 paired like homeodomain 2 ISO mRNA:increased expression:kidney RGD PMID:20926632 RGD:5131995 NCBI chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting severity ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant
DNA:missense mutation:cds:p.R3277C (mouse)
DNA:mutations:exons, intron:multiple
DNA:mutations:multiple
CTD
ClinVar
RGD
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 chr 6:38,811,051...38,865,503
Ensembl chr 6:38,837,964...38,865,503
JBrowse link
G PKD2 polycystin 2, transient receptor potential cation channel onset ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant
DNA:mutations:multiple
CTD
ClinVar
RGD
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 chr32:11,383,441...11,437,603
Ensembl chr32:11,383,424...11,435,438
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 chr12:19,280,866...19,744,669
Ensembl chr12:19,286,822...19,744,141
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:20210794 NCBI chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981
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 chr32:11,599,758...11,624,777
Ensembl chr32:11,597,814...11,623,390
JBrowse link
G PYURF PIGY upstream reading frame ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr32:11,808,967...11,812,436
Ensembl chr32:11,808,967...11,812,640
JBrowse link
G RAB26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 6:38,806,750...38,812,541
Ensembl chr 6:38,807,487...38,812,379
JBrowse link
G RPS6KB1 ribosomal protein S6 kinase B1 ISO protein:increased expression, increased activity:kidney RGD PMID:16221708 RGD:1643017 NCBI chr 9:34,387,084...34,590,603
Ensembl chr 9:34,387,091...34,425,292
JBrowse link
G SERPING1 serpin family G member 1 disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr18:38,570,354...38,580,751
Ensembl chr18:38,570,607...38,581,665
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 4:35,961,394...35,973,733
Ensembl chr 4:35,961,958...35,973,657
JBrowse link
G SNCA synuclein alpha ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr32:12,915,871...13,079,338
Ensembl chr32:12,916,215...13,060,383
JBrowse link
G SPARCL1 SPARC like 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr32:10,900,072...10,944,392
Ensembl chr32:10,900,283...10,944,449
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 chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069
JBrowse link
G STAT6 signal transducer and activator of transcription 6 ISO protein:increased expression:kidney, epithelial cell RGD PMID:16399078 RGD:7243978 NCBI chr10:1,232,515...1,247,011
Ensembl chr10:1,233,691...1,247,075
JBrowse link
G TIGD2 tigger transposable element derived 2 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr32:12,339,750...12,343,141
Ensembl chr32:12,341,225...12,342,802
JBrowse link
G TRAF7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 6:38,788,451...38,805,666
Ensembl chr 6:38,788,454...38,962,167
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 chr25:37,730,903...37,819,851
Ensembl chr25:37,733,229...37,800,886
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 chr11:25,329,922...25,505,281
Ensembl chr11:25,334,241...25,443,494
JBrowse link
G NR3C2 nuclear receptor subfamily 3 group C member 2 ISO OMIM NCBI chr15:46,390,030...46,718,000
Ensembl chr15:46,390,023...46,710,131
JBrowse link
G STX16 syntaxin 16 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar NCBI chr24:43,425,719...43,451,828
Ensembl chr24:43,426,470...43,449,077
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 NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827
JBrowse link
autosomal recessive Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCR1 chemokine (C-C motif) receptor 1 ISO RGD PMID:15716328 RGD:5688157 NCBI chr20:42,421,356...42,427,177
Ensembl chr20:42,421,356...42,426,958
JBrowse link
G COL4A3 collagen type IV alpha 3 chain ISO OMIM NCBI chr25:39,975,547...40,106,833
Ensembl chr25:39,975,586...40,104,782
JBrowse link
G COL4A4 collagen type IV alpha 4 chain ISO OMIM NCBI chr25:39,849,680...39,976,035
Ensembl chr25:39,854,388...39,976,189
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 chr 1:113,124,109...113,152,283
Ensembl chr 1:113,124,109...113,150,442
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 chr32:11,022,900...11,053,900
Ensembl chr32:11,045,508...11,053,252
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive ClinVar PMID:24033266, PMID:28492532 NCBI chr 1:251,985...322,081
Ensembl chr 1:252,103...322,718
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 chr29:31,959,225...31,975,309
Ensembl chr29:31,935,172...31,980,579
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 chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO protein:increased serine phosphorylation:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193
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 chr14:43,592,266...43,603,903
Ensembl chr14:43,578,721...43,605,720
JBrowse link
G C3 complement C3 ISO mRNA, protein:increased expression, increased activity:kidney RGD PMID:17960140 RGD:7175542 NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
JBrowse link
G CD14 CD14 molecule severity ISO RGD PMID:20555320 RGD:7204130 NCBI chr 2:35,790,505...35,792,967 JBrowse link
G CDC25A cell division cycle 25A treatment ISO protein:increased expression:cholangiocyte: RGD PMID:22155366 RGD:14700990 NCBI chr20:40,823,683...40,849,113
Ensembl chr20:40,823,459...40,847,608
JBrowse link
G CFTR CF transmembrane conductance regulator ISO mRNA, protein:increased expression:bile duct epithelium
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18988797 RGD:2307071 NCBI chr14:56,290,417...56,452,919
Ensembl chr14:56,290,275...56,453,977
JBrowse link
G CYP4A37 cytochrome P450 4A37 ISO mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr15:13,604,130...13,623,797 JBrowse link
G DZIP1L DAZ interacting zinc finger protein 1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:28530676 NCBI chr23:34,285,223...34,334,957
Ensembl chr23:34,285,864...34,331,680
JBrowse link
G EGFR epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9486961 NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631
JBrowse link
G ELN elastin ISO RGD PMID:21478483 RGD:7207865 NCBI chr 6:6,299,524...6,331,425
Ensembl chr 6:6,300,727...6,331,325
JBrowse link
G GPBAR1 G protein-coupled bile acid receptor 1 ISO mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr37:24,937,955...24,943,546
Ensembl chr37:24,940,325...24,943,421
JBrowse link
G IFT88 intraflagellar transport 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8191288, PMID:8608416 NCBI chr25:17,414,965...17,551,405
Ensembl chr25:17,414,965...17,551,266
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO protein:increased serine phosphorylation:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:kidney (mouse) RGD PMID:3479800 RGD:7207453 NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309
JBrowse link
G NPHP3 nephrocystin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12089381 NCBI chr23:29,662,486...29,703,629
Ensembl chr23:29,645,641...29,703,805
JBrowse link
G PANX1 pannexin 1 ISO RGD PMID:31630543 RGD:14995937 NCBI chr21:6,665,730...6,715,272
Ensembl chr21:6,668,269...6,715,858
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO protein:increased expression:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting 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 chr 6:38,811,051...38,865,503
Ensembl chr 6:38,837,964...38,865,503
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 chr32:11,383,441...11,437,603
Ensembl chr32:11,383,424...11,435,438
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:splice site mutation:intron:IVS35-2A>T
DNA:missense mutations, nonsense mutations: :multiple
protein:decreased expression:kidney
DNA:missense mutations:cds:
DNA:deletion:exon:
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 chr12:19,280,866...19,744,669
Ensembl chr12:19,286,822...19,744,141
JBrowse link
G SLC4A2 solute carrier family 4 member 2 ISO mRNA, protein:increased expression, altered localization:cholangiocyte, basolateral plasma membrane
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18988797 RGD:2307071 NCBI chr16:15,111,078...15,126,618
Ensembl chr16:15,111,116...15,126,617
JBrowse link
G SRC SRC proto-oncogene, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18385429 NCBI chr24:25,982,499...26,019,748
Ensembl chr24:25,999,048...26,018,077
JBrowse link
G TMEM67 transmembrane protein 67 ISO RGD PMID:30705305 RGD:14995942 NCBI chr29:38,655,531...38,715,774
Ensembl chr29:38,654,733...38,720,559
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: Autosomal recessive pseudohypoaldosteronism type 1
ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive
ClinVar Annotator: match by term: Pseudohypoaldosteronism type 1 autosomal recessive
ClinVar PMID:25741868 NCBI chr27:38,598,725...38,605,829
Ensembl chr27:38,599,268...38,605,780
JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha ISO OMIM NCBI chr27:38,612,206...38,638,212
Ensembl chr27:38,612,194...38,638,980
JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta ISO OMIM NCBI chr 6:22,439,643...22,481,349
Ensembl chr 6:22,439,643...22,481,349
JBrowse link
G SCNN1G sodium channel epithelial 1 subunit gamma ISO OMIM NCBI chr 6:22,566,568...22,593,479
Ensembl chr 6:22,567,711...22,593,503
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive ClinVar NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282
JBrowse link
Azotemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G REN renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6338847 NCBI chr38:744,540...766,998
Ensembl chr38:744,614...755,012
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 chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
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 5:54,225,393...54,239,305
Ensembl chr 5:54,225,389...54,237,110
JBrowse link
G CLCNKA chloride voltage-gated channel Ka ISO CTD Direct Evidence: marker/mechanism CTD PMID:10561751 NCBI chr 2:81,612,382...81,627,742 JBrowse link
G KCNJ1 potassium inwardly rectifying channel subfamily J member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Antenatal Bartter Syndrome
CTD
ClinVar
PMID:10561751, PMID:12911542, PMID:16982955, PMID:22275899, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 5:5,783,242...5,813,961
Ensembl chr 5:5,809,118...5,812,794
JBrowse link
G REN renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:929154, PMID:3519017, PMID:15976003 NCBI chr38:744,540...766,998
Ensembl chr38:744,614...755,012
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 chr30:14,458,373...14,548,870
Ensembl chr30:14,459,606...14,547,694
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 chr30:14,458,373...14,548,870
Ensembl chr30:14,459,606...14,547,694
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 chr 5:5,783,242...5,813,961
Ensembl chr 5:5,809,118...5,812,794
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 OMIM NCBI chr 2:81,612,382...81,627,742 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 5:54,225,393...54,239,305
Ensembl chr 5:54,225,389...54,237,110
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 2:81,612,382...81,627,742 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:46,502,459...46,510,990
Ensembl chr  X:46,502,381...46,509,436
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 CLCNKA chloride voltage-gated channel Ka 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 2:81,612,382...81,627,742 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 chr25:39,975,547...40,106,833
Ensembl chr25:39,975,586...40,104,782
JBrowse link
G COL4A4 collagen type IV alpha 4 chain ISO OMIM NCBI chr25:39,849,680...39,976,035
Ensembl chr25:39,854,388...39,976,189
JBrowse link
G COL4A5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Familial hematuria ClinVar NCBI chr  X:81,982,119...82,248,428
Ensembl chr  X:81,982,275...82,247,679
JBrowse link
G LAMA5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Familial hematuria ClinVar NCBI chr24:46,315,008...46,351,279 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 chr11:35,174,390...35,338,983
Ensembl chr11:35,176,934...35,310,335
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 chr14:31,743,704...31,793,484
Ensembl chr14:31,686,170...31,791,444
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 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896
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 chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717
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 chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220
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 RGD
CTD
PMID:17922784, PMID:22077972 RGD:5133442 NCBI chr 4:504,663...999,550
Ensembl chr 4:506,990...520,613
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 chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151
JBrowse link
G INS insulin ISO CTD Direct Evidence: therapeutic CTD PMID:2055425 NCBI chr18:46,324,047...46,324,933
Ensembl chr18:46,324,041...46,325,122
JBrowse link
G NGF nerve growth factor ISO associated with Diabetes Mellitus, Experimental RGD PMID:15448108 RGD:7242800 NCBI chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607
JBrowse link
G RASSF1 Ras association domain family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23527093 NCBI chr20:39,014,639...39,023,393
Ensembl chr20:39,014,666...39,022,585
JBrowse link
G RGS2 regulator of G protein signaling 2 treatment ISO associated with hypertension RGD PMID:19689474 RGD:9684972 NCBI chr38:6,200,237...6,203,491
Ensembl chr38:6,200,657...6,203,494
JBrowse link
G RGS3 regulator of G protein signaling 3 treatment ISO associated with hypertension RGD PMID:19689474 RGD:9684972 NCBI chr11:67,781,832...67,878,153
Ensembl chr11:67,781,962...67,920,075
JBrowse link
G RGS4 regulator of G protein signaling 4 treatment ISO associated with hypertension RGD PMID:19689474 RGD:9684972 NCBI chr38:19,771,454...19,778,917
Ensembl chr38:19,771,441...19,779,190
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 chr28:1,476,873...1,478,538
Ensembl chr28:1,476,774...1,478,505
JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23527093 NCBI chr10:30,627,154...30,681,520
Ensembl chr10:30,627,154...30,694,288
JBrowse link
G VIP vasoactive intestinal peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:18299998 NCBI chr 1:42,941,655...42,950,160
Ensembl chr 1:42,941,224...42,950,700
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 chr10:56,632,801...56,694,872
Ensembl chr10:56,579,899...56,787,187
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 chr13:38,330,287...38,343,142
Ensembl chr13:38,328,814...38,346,246
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 chr26:30,501,793...30,519,698
Ensembl chr26:30,503,071...30,519,611
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 chr37:16,123,788...16,126,634
Ensembl chr37:16,123,798...16,125,567
JBrowse link
G ISL1 ISL LIM homeobox 1 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr 4:63,638,009...63,648,492
Ensembl chr 4:63,637,443...63,648,183
JBrowse link
G LRP10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr 8:3,208,710...3,214,888
Ensembl chr 8:3,208,269...3,382,311
JBrowse link
G TP63 tumor protein p63 ISO DNA:deletion, insertion, SNPs: :multiple RGD PMID:23284286 RGD:11568641 NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046
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 chr37:25,463,064...25,475,407
Ensembl chr37:25,462,748...25,474,764
JBrowse link
G WNT11 Wnt family member 11 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr21:22,442,496...22,463,040
Ensembl chr21:22,446,051...22,463,173
JBrowse link
G WNT3 Wnt family member 3 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr 9:10,073,019...10,124,454
Ensembl chr 9:10,077,567...10,124,508
JBrowse link
G WNT6 Wnt family member 6 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr37:25,452,875...25,457,437
Ensembl chr37:25,453,905...25,456,654
JBrowse link
G WNT7A Wnt family member 7A ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr20:4,072,010...4,139,521
Ensembl chr20:4,073,929...4,139,436
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 chr25:30,690,959...30,801,484
Ensembl chr25:30,693,571...30,801,486
JBrowse link
G COL1A1 collagen type I alpha 1 chain treatment ISO RGD PMID:23313213 RGD:7257549 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
G COL3A1 collagen type III alpha 1 chain treatment ISO RGD PMID:23313213 RGD:7257549 NCBI chr36:30,488,250...30,526,367
Ensembl chr36:30,488,488...30,536,765
JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO RGD PMID:21356374 RGD:7257709 NCBI chr30:16,954,020...17,056,728
Ensembl chr30:16,957,215...16,988,353
JBrowse link
G ELN elastin treatment ISO RGD PMID:23313213 RGD:7257549 NCBI chr 6:6,299,524...6,331,425
Ensembl chr 6:6,300,727...6,331,325
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:urinary bladder (rat) RGD PMID:12118092 RGD:9068887 NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692
JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A ISO mRNA:increased expression:urinary bladder RGD PMID:23344575 RGD:7257660 NCBI chr22:4,453,715...4,510,934
Ensembl chr22:4,453,715...4,511,037
JBrowse link
G MMP7 matrix metallopeptidase 7 treatment ISO RGD PMID:23313213 RGD:7257549 NCBI chr 5:29,187,902...29,196,157
Ensembl chr 5:29,187,851...29,196,153
JBrowse link
G NGF nerve growth factor treatment ISO RGD PMID:22795377 RGD:7242774 NCBI chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607
JBrowse link
G NOS3 nitric oxide synthase 3 ISO mRNA:decreased expression:urinary bladder RGD PMID:21256554 RGD:4891960 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
G OPTN optineurin ISO protein:increased expression:urinary bladder: RGD PMID:16361812 RGD:7775024 NCBI chr 2:23,356,471...23,390,569
Ensembl chr 2:23,357,237...23,392,511
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15311063 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
JBrowse link
G SOD2 superoxide dismutase 2 ISO RGD PMID:21060756 RGD:7175518 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
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 chr11:64,031,305...64,033,908
Ensembl chr11:64,032,358...64,033,788
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 chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193
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 chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906
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 chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176
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 chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927
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 chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294
JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Transitional cell bladder carcinoma ClinVar PMID:26619011 NCBI chr10:406,856...424,746
Ensembl chr10:406,633...424,264
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 chr15:50,187,579...50,417,188
Ensembl chr15:50,189,240...50,417,195
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 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896
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 chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717
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 chr37:16,512,027...16,531,269
Ensembl chr37:16,512,770...16,531,219
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 chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
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 chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220
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 chr30:30,683,192...30,760,479
Ensembl chr30:30,683,107...30,760,479
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 chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788
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 chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910
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 chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
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 chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
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 2:76,668,086...76,671,082
Ensembl chr 2:76,668,217...76,670,977
JBrowse link
G C1QB complement C1q B chain ISO OMIM NCBI chr 2:76,650,440...76,655,546
Ensembl chr 2:76,650,586...76,655,549
JBrowse link
G C1QC complement C1q C chain ISO OMIM NCBI chr 2:76,660,039...76,664,602
Ensembl chr 2:76,660,035...76,664,577
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 chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
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 chr24:42,203,183...42,294,105
Ensembl chr24:42,204,823...42,294,653
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 chr12:12,779,936...12,822,978
Ensembl chr12:12,780,010...12,822,801
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 chr17:57,725,823...57,806,065
Ensembl chr17:57,725,640...57,806,048
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 2:79,367,154...79,393,096
Ensembl chr 2:79,367,185...79,392,314
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 chr29:40,676,851...40,694,174
Ensembl chr29:40,676,851...40,694,174
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 chr 9:37,437,992...37,493,200
Ensembl chr 9:37,438,583...37,492,993
JBrowse link
G HSP70 heat shock protein 70 ISO DNA: SNP: :g.1267A>G RGD PMID:20692469 RGD:7242732 NCBI chr12:1,285,282...1,287,670 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 4:70,328,963...70,376,127
Ensembl chr 4:70,267,514...70,376,127
JBrowse link