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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:kidney disease
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Accession:DOID:557 term browser browse the term
Definition:Pathological processes of the KIDNEY or its component tissues.
Synonyms:exact_synonym: Renal Disease;   impaired renal function disease;   kidney diseases;   nephropathy
 narrow_synonym: RENAL DYSPLASIA
 primary_id: MESH:D007674
 alt_id: DOID:11705;   OMIA:000710;   OMIM:602914
 xref: ICD10CM:N08;   ICD10CM:N28.9;   ICD9CM:588.8;   ICD9CM:588.89;   NCI:C3149;   NCI:C34843
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24502637 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G ABCC3 ATP binding cassette subfamily C member 3 severity ISO mRNA:increased expression:kidney RGD PMID:17855625 RGD:2301062 NCBI chr12:26,920,764...26,978,389
Ensembl chr12:26,920,821...26,978,363
JBrowse link
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Renal dysplasia
CTD
ClinVar
PMID:8642790, PMID:16116425, PMID:20093180, PMID:20416077, PMID:21471972, PMID:22095942, PMID:22829467, PMID:24033266, PMID:24163131, PMID:25741868, PMID:28492532 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,639
JBrowse link
G ACKR3 atypical chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22880115 NCBI chr15:136,370,457...136,382,559
Ensembl chr15:136,370,530...136,382,559
JBrowse link
G ACTA2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:19913069, PMID:31697999 NCBI chr14:100,868,145...100,886,732
Ensembl chr14:100,867,733...100,886,713
JBrowse link
G ADRA1B adrenoceptor alpha 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18257748 NCBI chr16:63,550,123...64,010,838
Ensembl chr16:63,550,128...63,603,034
JBrowse link
G ADRB2 adrenoceptor beta 2 ISO Associated with Escherichia coli infection; RGD PMID:20349426 RGD:7175274 NCBI chr 2:150,032,649...150,035,591
Ensembl chr 2:150,032,782...150,035,591
JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO associated with Obesity RGD PMID:21412218 RGD:7243938 NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,116...24,228,756
JBrowse link
G AGT angiotensinogen ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Renal dysplasia
CTD
ClinVar
PMID:7607642, PMID:7649545, PMID:7744780, PMID:7883995, PMID:8348146, PMID:8513325, PMID:8518804, PMID:9120024, PMID:9259580, PMID:9403548, PMID:9421481, PMID:9831339, PMID:11770813, PMID:12414515, PMID:12743009, PMID:15213268, PMID:16059745, PMID:16116425, PMID:17036344, PMID:17989111, PMID:21896938, PMID:22095942, PMID:23497386, PMID:24452034, PMID:25278896, PMID:25741868, PMID:28492532, PMID:31098697 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,672,428
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Renal dysplasia
CTD
ClinVar
PMID:8021009, PMID:9084931, PMID:9596920, PMID:15042429, PMID:15213268, PMID:16116425, PMID:17668390, PMID:18641512, PMID:20948563, PMID:21179236, PMID:22095942, PMID:22569962, PMID:25741868, PMID:28492532 NCBI chr13:88,934,873...88,980,317
Ensembl chr13:88,934,868...88,983,131
JBrowse link
G ALAD aminolevulinate dehydratase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23792432, PMID:24631795 NCBI chr 1:254,015,426...254,027,584
Ensembl chr 1:254,012,196...254,027,485
JBrowse link
G ALB albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:350256, PMID:2386429, PMID:7297036, PMID:16316336, PMID:17303580, PMID:20438795, PMID:21338618, PMID:24863737 NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,718,304
JBrowse link
G ALOX5AP arachidonate 5-lipoxygenase activating protein ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:g.8733T>C (rs3803278) (human) RGD PMID:19288030 RGD:2313888 NCBI chr11:7,371,328...7,438,111
Ensembl chr11:7,411,644...7,438,108
JBrowse link
G ANXA1 annexin A1 ISO CTD Direct Evidence: therapeutic CTD PMID:20484890 NCBI chr 1:226,414,200...226,431,963
Ensembl chr 1:226,414,307...226,432,287
JBrowse link
G AQP9 aquaporin 9 ISO OMIM NCBI chr 1:113,798,380...113,848,452
Ensembl chr 1:113,765,680...113,848,685
JBrowse link
G ARID1B AT-rich interaction domain 1B ISO RGD PMID:14633620 RGD:1302474 NCBI chr 1:9,791,627...10,227,381
Ensembl chr 1:9,791,629...10,227,947
JBrowse link
G B2M beta-2-microglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2202081, PMID:17303580, PMID:24863737 NCBI chr 1:126,837,721...126,844,043
Ensembl chr 1:126,835,143...126,981,582
JBrowse link
G BMP7 bone morphogenetic protein 7 ISO protein:decreased expression:kidney RGD PMID:16549155 RGD:2289038 NCBI chr17:57,567,770...57,676,516
Ensembl chr17:57,584,091...57,676,944
JBrowse link
G CALB1 calbindin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258088, PMID:21865292 NCBI chr 4:46,701,276...46,723,548
Ensembl chr 4:46,701,045...46,725,198
JBrowse link
G CASP1 caspase 1, apoptosis-related cysteine peptidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 9:35,188,066...35,199,364
Ensembl chr 9:35,186,420...35,200,328
JBrowse link
G CASP3 caspase 3 ISO RGD PMID:29257007 RGD:13782293 NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,749...45,763,773
JBrowse link
G CASP8 caspase 8 ISO RGD PMID:29257007 RGD:13782293 NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,470
JBrowse link
G CASP9 caspase 9 ISO RGD PMID:29257007 RGD:13782293 NCBI chr 6:74,707,597...74,730,033
Ensembl chr 6:74,706,515...74,730,092
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO RGD PMID:15882261 RGD:2307176 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO RGD PMID:15882261 RGD:2307176 NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
JBrowse link
G CD40LG CD40 ligand treatment ISO RGD PMID:12969144 RGD:7248601 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,711
JBrowse link
G CD46 CD46 molecule, complement regulatory protein ISO protein:increased expression:kidney RGD PMID:17594162 RGD:6483464 NCBI chr 9:135,025,439...135,078,910 JBrowse link
G CD59 CD59 molecule ISO CTD Direct Evidence: therapeutic CTD PMID:31618666 NCBI chr 2:27,186,587...27,207,303 JBrowse link
G CDH1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31697999 NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16968891 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761
JBrowse link
G CLU clusterin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258088, PMID:21593213, PMID:24863737 NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,590...11,352,475
JBrowse link
G CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23027747 NCBI chr14:113,888,970...114,060,369
Ensembl chr14:113,890,149...114,053,352
JBrowse link
G COL4A3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Kidney Disease ClinVar PMID:25741868, PMID:30311386 NCBI chr15:128,611,640...128,763,331
Ensembl chr15:128,611,866...128,763,122
JBrowse link
G COL4A5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Nephropathy
ClinVar Annotator: match by term: Kidney Diseases
ClinVar PMID:9848783, PMID:11223851, PMID:17396119, PMID:19728970, PMID:19965530, PMID:20378821, PMID:21332469, PMID:24470729, PMID:25741868, PMID:26467025, PMID:26809805, PMID:26934356, PMID:28492532, PMID:28844315, PMID:29854973, PMID:30311386 NCBI chr  X:88,958,837...89,183,306
Ensembl chr  X:88,958,825...89,183,374
JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:19429242 NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,445...22,342,163
JBrowse link
G CST3 cystatin C onset ISO associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:19291539, PMID:22525860, PMID:24863737 RGD:2314320 NCBI chr17:30,471,056...30,474,486
Ensembl chr17:30,470,855...30,474,590
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO associated with Purpura, Schoenlein-Henoch;DNA:polymorphism:exon:49A>G(human) RGD PMID:22700162 RGD:11344910 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,926...107,289,103
JBrowse link
G CTSD cathepsin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:15213268 NCBI chr 2:1,188,548...1,197,642
Ensembl chr 2:1,188,549...1,197,635
JBrowse link
G CYGB cytoglobin ISO RGD PMID:14647402 RGD:9685173 NCBI chr12:4,977,245...4,988,283 JBrowse link
G DHCR7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Renal dysplasia ClinVar PMID:8259166, PMID:8737829, PMID:9024557, PMID:9653161, PMID:9683613, PMID:10677299, PMID:10807690, PMID:10814720, PMID:10995508, PMID:11161831, PMID:11175299, PMID:11241839, PMID:11427181, PMID:11562938, PMID:12794707, PMID:15286151, PMID:15464432, PMID:15776424, PMID:15952211, PMID:16761297, PMID:16906538, PMID:17965227, PMID:18285838, PMID:19365639, PMID:20635399, PMID:21777499, PMID:22438180, PMID:22975760, PMID:23042628, PMID:23293579, PMID:23918729, PMID:24033266, PMID:24824134, PMID:25108116, PMID:25741868, PMID:25807282, PMID:26467025, PMID:28166604, PMID:28492532, PMID:30311386 NCBI chr 2:2,377,352...2,391,846
Ensembl chr 2:2,377,416...2,391,448
JBrowse link
G EDN1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8604712, PMID:10399635, PMID:15106802 NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
JBrowse link
G EGF epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21865292 NCBI chr 8:112,235,607...112,330,062
Ensembl chr 8:112,234,365...112,330,046
JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:20606417 NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
JBrowse link
G F7 coagulation factor VII ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) RGD PMID:15608477 RGD:2312390 NCBI chr11:78,512,389...78,518,668
Ensembl chr11:78,512,158...78,518,671
JBrowse link
G FABP4 fatty acid binding protein 4, adipocyte ISO CTD Direct Evidence: marker/mechanism CTD PMID:30215792 NCBI chr 4:55,096,400...55,101,209
Ensembl chr 4:55,096,404...55,101,897
JBrowse link
G FGA fibrinogen alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:8097946, PMID:8639778 NCBI chr 8:74,574,870...74,584,202
Ensembl chr 8:74,574,882...74,584,202
JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8995747 NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,878...101,343,916
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase treatment ISO RGD PMID:22549094 RGD:10449175 NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,025,257...125,041,033
JBrowse link
G GATM glycine amidinotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22061828 NCBI chr 1:126,361,968...126,378,705
Ensembl chr 1:126,361,945...126,380,872
JBrowse link
G GLIS2 GLIS family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17618285 NCBI chr 3:37,998,072...38,018,726
Ensembl chr 3:37,998,068...38,009,024
JBrowse link
G GP91-PHOX NADPH oxidase heavy chain subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20116427 NCBI chr  X:33,654,656...33,678,346
Ensembl chr  X:33,642,015...33,680,580
JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 disease_progression ISO CTD Direct Evidence: marker/mechanism
associated with Antineutrophil Cytoplasmic Antibody-associated Vasculitis;
CTD
RGD
PMID:19349640, PMID:20181666, PMID:20438795, PMID:21888673, PMID:23019274, PMID:23547217, PMID:24863737, PMID:24880025 RGD:7244373 NCBI chr16:66,162,318...66,208,868 JBrowse link
G HNF1A HNF1 homeobox A ISO associated with Hypertension RGD PMID:18443232 RGD:2301829 NCBI chr14:40,868,819...40,888,322
Ensembl chr14:40,868,676...40,888,328
JBrowse link
G HNF1B HNF1 homeobox B ISO DNA:mutation, deletions::multiple
associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:deletion:cds:multiple (human)
RGD PMID:16971658, PMID:17971380 RGD:10402549, RGD:2312749 NCBI chr12:39,143,119...39,201,631
Ensembl chr12:39,143,121...39,313,511
JBrowse link
G HOXA11 homeobox A11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7596412 NCBI chr18:45,388,523...45,392,190
Ensembl chr18:45,388,574...45,392,573
JBrowse link
G HOXD11 homeobox D11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7596412 NCBI chr15:81,906,654...81,910,765
Ensembl chr15:81,908,460...81,910,281
JBrowse link
G IFT122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chr13:68,828,710...68,902,062
Ensembl chr13:68,828,705...68,902,062
JBrowse link
G IGF1 insulin like growth factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:8825380 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,037
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO CTD Direct Evidence: therapeutic CTD PMID:9370186
G IL33 interleukin 33 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21949094 NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,435...215,941,840
JBrowse link
G KL klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:23665422 NCBI chr11:9,427,236...9,479,251
Ensembl chr11:9,427,198...9,478,346
JBrowse link
G LCN2 lipocalin 2 disease_progression ISO associated with Antineutrophil Cytoplasmic Antibody-associated Vasculitis;
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:19349640, PMID:20181666, PMID:20438795, PMID:23547217, PMID:27026710 RGD:7244373 NCBI chr 1:268,609,975...268,614,651 JBrowse link
G LDLR low density lipoprotein receptor ISO RGD PMID:21795641 RGD:7241070 NCBI chr 2:69,828,348...69,864,823
Ensembl chr 2:69,828,332...69,864,823
JBrowse link
G LEPR leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20567778 NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,798,979...146,896,108
JBrowse link
G LIPC lipase C, hepatic type resistance
susceptibility
ISO associated with Diabetes Mellitus, Insulin-Dependent; DNA:transition:promoter:-514C>T (human)
associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:transition:promoter:-514C>T (human)
RGD PMID:15983323, PMID:16928730 RGD:2308823, RGD:2308828 NCBI chr 1:113,433,684...113,604,139
Ensembl chr 1:113,433,679...113,604,306
JBrowse link
G LOC100522011 apoptosis-associated speck-like protein containing a CARD ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:22647887, PMID:24508291 NCBI chr 3:17,305,921...17,307,521
Ensembl chr 3:17,306,179...17,307,512
JBrowse link
G LOC100736818 cardiotrophin-1 ISO CTD Direct Evidence: therapeutic CTD PMID:23335628 NCBI chr 3:17,539,927...17,545,250
Ensembl chr 3:17,540,499...17,545,240
JBrowse link
G LOC100739163 glutathione S-transferase P-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868187 NCBI chr 2:4,978,761...4,982,233 JBrowse link
G LRP2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632512 NCBI chr15:75,565,299...75,754,604
Ensembl chr15:75,565,301...75,716,694
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISO RGD PMID:15213271 RGD:7243971 NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,523
JBrowse link
G MIF macrophage migration inhibitory factor ISO associated with Hypercholesterolemia;mRNA:increased expression:glomerulus RGD PMID:9158105 RGD:1641957 NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,862,317
JBrowse link
G MIR192 microRNA mir-192 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24880025 NCBI chr 2:7,285,667...7,285,746
Ensembl chr 2:7,285,667...7,285,746
JBrowse link
G MIR21 microRNA mir-21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23469132 NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358
JBrowse link
G MIR30D microRNA mir-30d ISO CTD Direct Evidence: marker/mechanism CTD PMID:31697999 NCBI chr 4:6,948,669...6,948,747
Ensembl chr 4:6,948,669...6,948,747
JBrowse link
G MIR30E microRNA mir-30e ISO CTD Direct Evidence: marker/mechanism CTD PMID:31697999 NCBI chr 6:170,429,841...170,429,920
Ensembl chr 6:170,429,841...170,429,920
JBrowse link
G MKI67 marker of proliferation Ki-67 ISO RGD PMID:22017545 RGD:6483553 NCBI chr14:137,266,622...137,296,312 JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:decreased expression:kidney RGD PMID:17392157 RGD:1642041 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G MPO myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19913069 NCBI chr12:34,557,031...34,570,091
Ensembl chr12:34,556,408...34,567,904
JBrowse link
G MT4 metallothionein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19921116 NCBI chr 6:18,611,245...18,613,956
Ensembl chr 6:18,610,593...18,613,967
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18551038 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
JBrowse link
G MXI1 MAX interactor 1, dimerization protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23316056 NCBI chr14:120,643,691...120,722,632
Ensembl chr14:120,643,793...120,722,626
JBrowse link
G NEK8 NIMA related kinase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18199800 NCBI chr12:44,963,095...44,975,092
Ensembl chr12:44,963,561...44,975,613
JBrowse link
G NFE2L2 nuclear factor, erythroid 2 like 2 ISO CTD Direct Evidence: therapeutic CTD PMID:20605904 NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,648...83,146,183
JBrowse link
G NFIA nuclear factor I A ISO ClinVar Annotator: match by term: Renal dysplasia ClinVar PMID:30311386 NCBI chr 6:150,834,002...151,229,773
Ensembl chr 6:150,835,464...151,426,550
JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18441258 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,944...44,327,111
JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12012391, PMID:16382022 NCBI chr 6:45,248,325...45,271,892
Ensembl chr 6:45,248,317...45,271,550
JBrowse link
G NPR1 natriuretic peptide receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20881240 NCBI chr 4:95,957,220...95,974,253
Ensembl chr 4:95,957,228...95,973,430
JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:21613233 NCBI chr 6:17,292,962...17,302,593
Ensembl chr 6:17,292,769...17,302,590
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20561897, PMID:21884784 NCBI chr10:14,203,157...14,241,164
Ensembl chr10:14,203,159...14,241,197
JBrowse link
G PAX2 paired box 2 ISO ClinVar Annotator: match by term: Kidney Disease ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr14:111,822,334...111,914,950
Ensembl chr14:111,834,168...111,914,304
JBrowse link
G PAX9 paired box 9 ISO ClinVar Annotator: match by term: Kidney Disease ClinVar PMID:25741868 NCBI chr 7:63,324,709...63,346,326
Ensembl chr 7:63,324,710...63,346,310
JBrowse link
G PCSK5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:228,854,587...229,308,054
Ensembl chr 1:228,854,595...229,308,906
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Kidney Diseases ClinVar PMID:25741868, PMID:30311386 NCBI chr 3:39,849,579...39,899,455
Ensembl chr 3:39,849,609...39,899,455
JBrowse link
G PKD2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Kidney Diseases ClinVar PMID:30311386 NCBI chr 8:131,002,973...131,058,932
Ensembl chr 8:131,005,407...131,058,932
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6143199 NCBI chr 3:113,661,712...113,668,558 JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316343 NCBI chr 5:3,302,755...3,321,091
Ensembl chr 5:3,300,708...3,366,361
JBrowse link
G PPP3CA protein phosphatase 3 catalytic subunit alpha ISO RGD PMID:27009276 RGD:11537650 NCBI chr 8:119,429,181...119,754,615
Ensembl chr 8:119,428,743...119,754,650
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19643929 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,013...127,858,884
JBrowse link
G RAMP2 receptor activity modifying protein 2 ISO mRNA:increased expression:kidney RGD PMID:10733909 RGD:61729 NCBI chr12:20,092,204...20,094,426
Ensembl chr12:20,092,193...20,094,474
JBrowse link
G RASAL1 RAS protein activator like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23665422 NCBI chr14:38,598,901...38,633,190
Ensembl chr14:38,598,269...38,633,425
JBrowse link
G RBP4 retinol binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22061828 NCBI chr14:105,037,360...105,044,552
Ensembl chr14:105,036,770...105,044,765
JBrowse link
G RELB RELB proto-oncogene, NF-kB subunit ISO protein:increased localization: kidney tubule epithelium, nucleus RGD PMID:22017545 RGD:6483553 NCBI chr 6:51,444,670...51,480,350
Ensembl chr 6:51,444,636...51,480,320
JBrowse link
G REN renin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Renal dysplasia
CTD
ClinVar
PMID:6156352, PMID:8723173, PMID:12414515, PMID:16116425, PMID:17443344, PMID:21036942, PMID:22095942, PMID:25741868, PMID:28492532 NCBI chr 9:64,809,143...64,822,605
Ensembl chr 9:64,809,146...64,822,636
JBrowse link
G RGN regucalcin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18805471 NCBI chr  X:41,725,660...41,749,736
Ensembl chr  X:41,726,526...41,749,726
JBrowse link
G RPGRIP1L RPGRIP1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17558407, PMID:17558409 NCBI chr 6:31,564,937...31,660,540
Ensembl chr 6:31,564,986...31,661,194
JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138848 NCBI chr 4:34,823,869...34,859,777
Ensembl chr 4:34,823,757...34,859,780
JBrowse link
G SIX2 SIX homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18570229 NCBI chr 3:95,460,046...95,463,428
Ensembl chr 3:95,459,937...95,464,066
JBrowse link
G SLC12A3 solute carrier family 12 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21865292 NCBI chr 6:18,844,752...18,885,497
Ensembl chr 6:18,844,773...18,885,477
JBrowse link
G SLC22A2 solute carrier family 22 member 2 ISO CTD Direct Evidence: therapeutic CTD PMID:22525860 NCBI chr 1:7,289,278...7,323,418
Ensembl chr 1:7,289,831...7,323,146
JBrowse link
G SLC25A21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Kidney Disease ClinVar PMID:25741868 NCBI chr 7:62,808,126...63,326,634
Ensembl chr 7:62,811,190...63,325,625
JBrowse link
G SLC47A1 solute carrier family 47 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24001450 NCBI chr12:60,021,176...60,114,488
Ensembl chr12:60,019,208...60,056,939
JBrowse link
G SLC7A9 solute carrier family 7 member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21572414 NCBI chr 6:42,664,795...42,706,113
Ensembl chr 6:42,664,929...42,714,267
JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:26980705 NCBI chr 9:3,324,091...3,328,493
Ensembl chr 9:3,324,091...3,328,373
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19917352, PMID:21571061 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,651,280...7,691,723
JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:12660331 NCBI chr16:71,368,164...71,380,972
Ensembl chr16:71,357,703...71,381,160
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27026710 NCBI chr 8:131,077,786...131,085,334
Ensembl chr 8:131,077,786...131,085,340
JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 ISO protein:altered localization:kidney RGD PMID:15944339 RGD:1625196 NCBI chr12:60,733,967...60,750,951
Ensembl chr12:60,733,907...60,751,265
JBrowse link
G SREBF2 sterol regulatory element binding transcription factor 2 ISO protein:altered localization:kidney RGD PMID:15944339 RGD:1625196 NCBI chr 5:6,719,484...6,784,724
Ensembl chr 5:6,719,487...6,784,672
JBrowse link
G SV2B synaptic vesicle glycoprotein 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16943307 NCBI chr 7:87,564,380...87,767,247
Ensembl chr 7:87,567,379...87,766,911
JBrowse link
G TERT telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16968891 NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421
JBrowse link
G TFAP2A transcription factor AP-2 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19685247 NCBI chr 7:7,221,654...7,244,626
Ensembl chr 7:7,221,656...7,244,477
JBrowse link
G TFF3 trefoil factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24863737 NCBI chr13:205,641,038...205,644,333
Ensembl chr13:205,642,374...205,644,334
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:11682445, PMID:14675041, PMID:18390891 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,169...49,349,048
JBrowse link
G TGFBI transforming growth factor beta induced ISO chronic cyclosporin A-induced nephropathy RGD PMID:16308546 RGD:1599389 NCBI chr 2:138,191,793...138,225,373
Ensembl chr 2:138,191,804...138,225,366
JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO protein:increased expression:kidney RGD PMID:18198643 RGD:2302020 NCBI chr 1:240,842,735...240,918,267
Ensembl chr 1:240,859,270...240,918,528
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO chronic nephrotoxicity;mRNA, protein:increased expression:kidney RGD PMID:16980036 RGD:1601593 NCBI chr13:16,784,370...16,875,828
Ensembl chr13:16,784,491...16,878,165
JBrowse link
G THG1L tRNA-histidine guanylyltransferase 1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:21784897 NCBI chr16:65,602,637...65,610,619
Ensembl chr16:65,602,641...65,610,592
JBrowse link
G TMEM67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Nephropathy ClinVar PMID:10508989, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21866095, PMID:23559409, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:27491411, PMID:28492532, PMID:30311386 NCBI chr 4:42,878,249...42,931,106
Ensembl chr 4:42,878,254...42,931,121
JBrowse link
G TNF tumor necrosis factor ISO associated with Arthritis, Rheumatoid RGD PMID:14613268 RGD:10450570 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO associated with Arthritis, Rheumatoid RGD PMID:14613268 RGD:10450570 NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,073...64,331,909
JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 treatment ISO RGD PMID:23535151 RGD:7247439 NCBI chr 9:32,332,768...32,439,184
Ensembl chr 9:32,332,769...32,439,184
JBrowse link
G TTC21B tetratricopeptide repeat domain 21B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258341 NCBI chr15:72,430,250...72,512,503
Ensembl chr15:72,430,725...72,512,491
JBrowse link
G UMOD uromodulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:8486146, PMID:19430482 NCBI chr 3:25,473,048...25,492,286
Ensembl chr 3:25,473,162...25,492,283
JBrowse link
G VIM vimentin ISO CTD Direct Evidence: marker/mechanism CTD PMID:31697999 NCBI chr10:43,516,441...43,526,172
Ensembl chr10:43,517,307...43,526,172
JBrowse link
G VPS33B VPS33B late endosome and lysosome associated ISO ARC syndrome, OMIM:208085 RGD PMID:15052268 RGD:1599749 NCBI chr 7:55,840,612...55,865,045 JBrowse link
G WNK1 WNK lysine deficient protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21865292 NCBI chr 5:68,000,792...68,142,533
Ensembl chr 5:68,001,104...68,140,757
JBrowse link
G WNT4 Wnt family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11832423 NCBI chr 6:80,110,238...80,138,165 JBrowse link
G XYLT1 xylosyltransferase 1 ISO mRNA:increased expression:kidney RGD PMID:18095597 RGD:2313146 NCBI chr 3:27,158,438...27,492,629
Ensembl chr 3:27,158,874...27,492,892
JBrowse link
46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRPS22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: 46,XX gonadal dysgenesis ClinVar PMID:29566152 NCBI chr13:80,006,656...80,232,107
Ensembl chr13:79,981,676...80,232,774
JBrowse link
G WNT4 Wnt family member 4 ISO OMIM NCBI chr 6:80,110,238...80,138,165 JBrowse link
acute kidney failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2M alpha-2-macroglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chr 5:62,406,928...62,483,690
Ensembl chr 5:62,438,017...62,485,537
JBrowse link
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 treatment ISO RGD PMID:24502693 RGD:11039053 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,639
JBrowse link
G ADRB2 adrenoceptor beta 2 treatment ISO associated with endotoxemia; protein:increased expression:kidney
associated with Bacteremia;
associated with Endotoxemia;
RGD PMID:14747378, PMID:19020966, PMID:19887504 RGD:7175276, RGD:7175281, RGD:7175283 NCBI chr 2:150,032,649...150,035,591
Ensembl chr 2:150,032,782...150,035,591
JBrowse link
G AFM afamin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 8:69,706,823...69,728,269
Ensembl chr 8:69,706,890...69,728,267
JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO RGD PMID:21811803 RGD:7243868 NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,116...24,228,756
JBrowse link
G AHSG alpha 2-HS glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr13:124,426,313...124,438,848
Ensembl chr13:124,426,308...124,438,840
JBrowse link
G ALAD aminolevulinate dehydratase ISO protein:decreased activity:kidney (rat) RGD PMID:19484701 RGD:4144146 NCBI chr 1:254,015,426...254,027,584
Ensembl chr 1:254,012,196...254,027,485
JBrowse link
G ALB albumin ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:2048579, PMID:21259293, PMID:24361871, PMID:28885000 NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,718,304
JBrowse link
G ALOX5 arachidonate 5-lipoxygenase ISO RGD PMID:19194548 RGD:2317536 NCBI chr14:90,859,209...90,907,084
Ensembl chr14:90,858,975...90,907,094
JBrowse link
G AMBP alpha-1-microglobulin/bikunin precursor ISO CTD Direct Evidence: marker/mechanism|therapeutic RGD
CTD
PMID:8963945, PMID:28885000 RGD:6904218 NCBI chr 1:254,683,885...254,703,220
Ensembl chr 1:254,683,885...254,703,225
JBrowse link
G AMN amnion associated transmembrane protein ISO CTD Direct Evidence: therapeutic CTD PMID:20514524
G ANXA1 annexin A1 treatment ISO RGD PMID:22101490 RGD:7421583 NCBI chr 1:226,414,200...226,431,963
Ensembl chr 1:226,414,307...226,432,287
JBrowse link
G AR androgen receptor ISO RGD PMID:24503548 RGD:11570523 NCBI chr  X:53,609,113...53,806,778
Ensembl chr  X:53,609,176...53,805,578
JBrowse link
G ARG1 arginase 1 ISO mRNA:decreased expression:renal tubule (rat) RGD PMID:12371970 RGD:631989 NCBI chr 1:32,006,035...32,028,983
Ensembl chr 1:32,006,038...32,028,986
JBrowse link
G ARG2 arginase 2 ISO mRNA:decreased expression:renal tubule (rat) RGD PMID:12371970 RGD:631989 NCBI chr 7:91,343,987...91,385,911
Ensembl chr 7:91,343,987...91,385,911
JBrowse link
G ATP5F1B ATP synthase F1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25666834 NCBI chr 5:21,984,750...21,992,393
Ensembl chr 5:21,984,580...21,992,407
JBrowse link
G AVP arginine vasopressin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2139164 NCBI chr17:32,581,234...32,583,145
Ensembl chr17:32,581,230...32,583,427
JBrowse link
G AVPR1A arginine vasopressin receptor 1A ISO RGD PMID:17347933 RGD:2300348 NCBI chr 5:27,824,991...27,832,794
Ensembl chr 5:27,824,989...27,832,704
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 chr 1:126,837,721...126,844,043
Ensembl chr 1:126,835,143...126,981,582
JBrowse link
G BAD BCL2 associated agonist of cell death treatment ISO RGD PMID:20037173 RGD:10053672 NCBI chr 2:7,831,192...7,842,864
Ensembl chr 2:7,830,920...7,842,863
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 6:54,222,341...54,228,150
Ensembl chr 6:54,187,260...54,228,144
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO protein:increased expression:kidney RGD PMID:20037173 RGD:10053672 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,288,544...158,518,879
JBrowse link
G BCL2L1 BCL2 like 1 ISO protein:increased expression:kidney RGD PMID:20037173 RGD:10053672 NCBI chr17:35,366,139...35,415,798
Ensembl chr17:35,366,141...35,415,359
JBrowse link
G BDKRB2 bradykinin receptor B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24975837 NCBI chr 7:117,438,622...117,472,005
Ensembl chr 7:117,438,543...117,472,003
JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,499...72,528,112
JBrowse link
G CAPN1 calpain 1 treatment ISO associated with Rhabdomyolysis; RGD PMID:24158126 RGD:13792553 NCBI chr 2:6,997,513...7,024,410
Ensembl chr 2:6,997,516...7,081,432
JBrowse link
G CASP1 caspase 1, apoptosis-related cysteine peptidase ISO RGD PMID:16557226 RGD:2293624 NCBI chr 9:35,188,066...35,199,364
Ensembl chr 9:35,186,420...35,200,328
JBrowse link
G CCL11 chemokine (C-C motif) ligand 11 ISO protein:increased expression:kidney RGD PMID:22778179 RGD:7247739 NCBI chr12:40,779,906...40,782,862
Ensembl chr12:40,779,173...40,782,893
JBrowse link
G CCL3L1 chemokine (C-C motif) ligand 3-like 1 ISO RGD PMID:20482449 RGD:6906908 NCBI chr12:39,491,999...39,493,345
Ensembl chr12:39,491,885...39,493,370
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO protein:increased secretion:serum (mouse) RGD PMID:19508392 RGD:4889990 NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
JBrowse link
G CCR5 chemokine (C-C motif) receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26055553 NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,902
JBrowse link
G CCT7 chaperonin containing TCP1 subunit 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31825490 NCBI chr 3:69,527,238...69,540,489
Ensembl chr 3:69,526,534...69,546,548
JBrowse link
G CD44 CD44 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chr 2:25,788,699...25,884,209
Ensembl chr 2:25,788,704...25,884,153
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO protein:decreased expression:kidney RGD PMID:16557226 RGD:2293624 NCBI chr 5:59,731,224...59,735,831
Ensembl chr 5:59,731,206...59,735,831
JBrowse link
G CLU clusterin ISO protein:increased expression:urine
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:20118187, PMID:20623750, PMID:22005293, PMID:22581811, PMID:23052191, PMID:24361871, PMID:28885000 RGD:7245501 NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,590...11,352,475
JBrowse link
G CP ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr13:89,396,713...89,463,540
Ensembl chr13:89,396,685...89,463,538
JBrowse link
G CRP C-reactive protein, pentraxin-related ISO associated with Myocardial Infarction;
protein:increased expression:serum
RGD PMID:22551254, PMID:22694718 RGD:6903282, RGD:6906888 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,722,352...90,805,236
JBrowse link
G CSF1 colony stimulating factor 1 ISO RGD PMID:23143303 RGD:7257565 NCBI chr 4:110,178,466...110,198,232
Ensembl chr 4:110,178,478...110,197,901
JBrowse link
G CSF1R colony stimulating factor 1 receptor ISO RGD PMID:23143303 RGD:7257565 NCBI chr 2:151,102,138...151,130,311
Ensembl chr 2:151,102,138...151,147,634
JBrowse link
G CST3 cystatin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22005293, PMID:28885000 NCBI chr17:30,471,056...30,474,486
Ensembl chr17:30,470,855...30,474,590
JBrowse link
G CYP1A1 cytochrome P450 1A1 treatment ISO RGD PMID:18495746, PMID:19890363 RGD:7257732, RGD:7257735 NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,780,105...58,809,755
JBrowse link
G CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 treatment ISO RGD PMID:18495746, PMID:23981375 RGD:7257727, RGD:7257735 NCBI chr 7:58,779,529...58,786,155
Ensembl chr 7:58,779,475...58,786,100
JBrowse link
G CYP27B1 25-hydroxyvitamin D3 1alpha-hydroxylase ISO RGD PMID:6223803 RGD:2307326 NCBI chr 5:23,053,129...23,058,865
Ensembl chr 5:23,050,114...23,058,470
JBrowse link
G CYP2C49 cytochrome P450 2C49 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19814645 NCBI chr14:106,571,803...106,612,082 JBrowse link
G CYP2D25 vitamin D3 25-Hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19814645 NCBI chr 5:6,539,021...6,543,643
Ensembl chr 5:6,538,907...6,543,643
JBrowse link
G CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 treatment ISO RGD PMID:24412858, PMID:24717297 RGD:14700914, RGD:14700920 NCBI chr14:141,690,737...141,703,078
Ensembl chr14:141,690,426...141,736,818
JBrowse link
G DDIT3 DNA damage inducible transcript 3 ISO Protein:increased expression:renal tubule epithelium RGD PMID:15476864 RGD:1599736 NCBI chr 5:22,785,441...22,789,867
Ensembl chr 5:22,785,441...22,791,134
JBrowse link
G ECE1 endothelin converting enzyme 1 ISO RGD PMID:10073607, PMID:11043448 RGD:7244180, RGD:7244185 NCBI chr 6:79,408,322...79,465,827
Ensembl chr 6:79,408,328...79,466,106
JBrowse link
G EDN1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:kidney (mouse)
CTD
RGD
PMID:9788586, PMID:19967049 RGD:4144852 NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
JBrowse link
G EGF epidermal growth factor ISO mRNA:decreased expression:kidney RGD PMID:11340354, PMID:20482449 RGD:10395241, RGD:6906908 NCBI chr 8:112,235,607...112,330,062
Ensembl chr 8:112,234,365...112,330,046
JBrowse link
G EGFR epidermal growth factor receptor ISO mRNA:increased expression:kidney
CTD Direct Evidence: therapeutic
RGD
CTD
PMID:11340354, PMID:14638913 RGD:10395241 NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,478,882
JBrowse link
G EGLN1 egl-9 family hypoxia inducible factor 1 ISO mRNA, protein:decreased expression:kidney RGD PMID:19349364 RGD:11252083 NCBI chr14:59,113,527...59,168,421
Ensembl chr14:59,112,899...59,168,395
JBrowse link
G EGLN3 egl-9 family hypoxia inducible factor 3 ISO mRNA, protein:decreased expression:kidney RGD PMID:19349364 RGD:11252083 NCBI chr 7:65,805,513...65,833,536
Ensembl chr 7:65,805,500...65,833,536
JBrowse link
G EPAS1 endothelial PAS domain protein 1 treatment ISO RGD PMID:16762988 RGD:10395386 NCBI chr 3:94,167,759...94,253,662
Ensembl chr 3:94,165,815...94,254,079
JBrowse link
G EPHX2 epoxide hydrolase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:26165641 NCBI chr14:11,217,125...11,293,018
Ensembl chr14:11,216,977...11,293,412
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 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
JBrowse link
G FAS Fas cell surface death receptor ISO protein:increased expression:renal tubule (rat) RGD PMID:21374789 RGD:8663469 NCBI chr14:100,927,305...100,954,781 JBrowse link
G FGA fibrinogen alpha chain ISO mRNA:increased expression:kidney (rat) RGD PMID:15805072 RGD:9685024 NCBI chr 8:74,574,870...74,584,202
Ensembl chr 8:74,574,882...74,584,202
JBrowse link
G FIS1 fission, mitochondrial 1 ISO protein:decreased expression:kidney (rat) RGD PMID:26480480 RGD:12910862 NCBI chr 3:8,938,250...8,942,102
Ensembl chr 3:8,931,104...8,941,865
JBrowse link
G FN1 fibronectin 1 ISO protein:increased expression:kidney RGD PMID:11768240, PMID:12884040 RGD:7205684, RGD:729934 NCBI chr15:117,658,158...117,737,145
Ensembl chr15:117,658,099...117,731,014
JBrowse link
G FSTL1 follistatin like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20861081 NCBI chr13:139,847,246...139,901,972
Ensembl chr13:139,847,438...139,901,960
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:602954, PMID:734759, PMID:4794122 NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,025,257...125,041,033
JBrowse link
G GAS6 growth arrest specific 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19564549 NCBI chr11:78,848,797...78,880,733
Ensembl chr11:78,848,794...78,881,272
JBrowse link
G GATM glycine amidinotransferase ISO protein:decreased activity:kidney (rat) RGD PMID:2752493 RGD:1599823 NCBI chr 1:126,361,968...126,378,705
Ensembl chr 1:126,361,945...126,380,872
JBrowse link
G GC GC vitamin D binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 8:68,326,293...68,360,262
Ensembl chr 8:68,326,301...68,360,262
JBrowse link
G GFER growth factor, augmenter of liver regeneration treatment ISO CTD Direct Evidence: therapeutic
protein:increased expression:cortex of kidney,renal medulla:
RGD
CTD
PMID:20030531 RGD:9685736 NCBI chr 3:39,981,938...39,984,451
Ensembl chr 3:39,981,940...39,985,082
JBrowse link
G GHRL ghrelin and obestatin prepropeptide ISO RGD PMID:19625378 RGD:7242430 NCBI chr13:66,442,106...66,453,576
Ensembl chr13:66,316,436...66,452,917
JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO protein:decreased activity:kidney (rat) RGD PMID:23924727 RGD:13506245 NCBI chr 6:20,407,203...20,431,849
Ensembl chr 6:20,407,198...20,432,068
JBrowse link
G GPNMB glycoprotein nmb ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chr 9:92,037,428...92,071,501
Ensembl chr 9:92,037,423...92,118,040
JBrowse link
G GSK3B glycogen synthase kinase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:22785175 NCBI chr13:140,136,109...140,370,197
Ensembl chr13:140,136,158...140,369,574
JBrowse link
G GSR glutathione-disulfide reductase ISO glycerol-induced
protein:decreased activity:kidney:
RGD PMID:1870354, PMID:22286819 RGD:7257559, RGD:7257585 NCBI chr15:54,382,564...54,433,989
Ensembl chr15:54,382,567...54,433,989
JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 ISO associated with Pyelonephritis;protein:increased expression:urine:
CTD Direct Evidence: marker/mechanism
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 chr16:66,162,318...66,208,868 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 2:142,102,455...142,115,192
Ensembl chr 2:142,102,456...142,115,344
JBrowse link
G HDAC2 histone deacetylase 2 treatment ISO associated with sepsis; RGD PMID:22933299 RGD:9590257 NCBI chr 1:79,867,713...79,901,597
Ensembl chr 1:79,863,094...79,901,585
JBrowse link
G HDAC3 histone deacetylase 3 ISO RGD PMID:21416250 RGD:10047111 NCBI chr 2:143,273,188...143,287,421
Ensembl chr 2:143,273,191...143,287,387
JBrowse link
G HDAC5 histone deacetylase 5 treatment ISO associated with sepsis; RGD PMID:21416250, PMID:22933299 RGD:10047111, RGD:9590257 NCBI chr12:19,077,910...19,119,463
Ensembl chr12:19,077,997...19,123,140
JBrowse link
G HES1 hes family bHLH transcription factor 1 ISO protein:increased expression:kidney tubule (rat)
mRNA:increased expression:kidney collecting duct (rat)
RGD PMID:24325066, PMID:24397211 RGD:9685383, RGD:9685389 NCBI chr13:131,135,970...131,137,865
Ensembl chr13:131,135,724...131,138,236
JBrowse link
G HEXB hexosaminidase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:22005293 NCBI chr 2:83,745,263...83,784,762
Ensembl chr 2:83,744,627...83,784,759
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 1:190,625,436...190,673,926
Ensembl chr 1:190,625,181...190,674,850
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO associated with Sepsis RGD PMID:16557230 RGD:5508471 NCBI chr 2:84,380,245...84,401,117
Ensembl chr 2:84,380,225...84,402,956
JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO CTD Direct Evidence: therapeutic
associated with Sepsis
CTD
RGD
PMID:21048024, PMID:23807243 RGD:10755583
G HP haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:19270397, PMID:28885000 RGD:11041863 NCBI chr 6:14,980,382...14,985,245 JBrowse link
G HPX hemopexin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 9:3,288,288...3,297,051
Ensembl chr 9:3,288,172...3,297,047
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 9:49,982,278...49,986,760
Ensembl chr 9:49,982,284...49,990,508
JBrowse link
G ICAM1 intercellular adhesion molecule 1 treatment ISO RGD PMID:22659586 RGD:7175102 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G IGF1 insulin like growth factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:7540432 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,037
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 1:137,383,623...137,691,038
Ensembl chr 1:137,387,925...137,690,666
JBrowse link
G IGFBP1 insulin like growth factor binding protein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:7540432 NCBI chr18:50,018,487...50,022,799
Ensembl chr18:50,018,487...50,022,799
JBrowse link
G IL10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18460982 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G IL18 interleukin 18 ISO RGD PMID:11342578 RGD:6893450 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,966...39,873,300
JBrowse link
G IL1A interleukin 1 alpha ISO RGD PMID:21716595 RGD:6907069 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
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
G IL20 interleukin 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18496552 NCBI chr 9:67,498,788...67,502,110
Ensembl chr 9:67,498,813...67,502,586
JBrowse link
G IL6 interleukin 6 ISO associated with Acute Lung Injury;protein:increased expression:plasma
CTD Direct Evidence: therapeutic
RGD
CTD
PMID:18074478, PMID:21570986 RGD:5128661 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G INS insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12243603 NCBI chr 2:1,496,842...1,498,052
Ensembl chr 2:1,496,842...1,497,841
JBrowse link
G KLK1 kallikrein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18227104 NCBI chr 6:55,570,632...55,576,398
Ensembl chr 6:55,570,630...55,576,637
JBrowse link
G KNG1 kininogen 1 ISO CTD Direct Evidence: therapeutic CTD PMID:513486, PMID:3015452 NCBI chr13:124,521,276...124,557,384
Ensembl chr13:124,521,277...124,557,376
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 1:268,609,975...268,614,651 JBrowse link
G LGALS3 galectin 3 ISO mRNA:increased expression:kidney RGD PMID:10980121 RGD:9685228 NCBI chr 1:184,478,639...184,496,155
Ensembl chr 1:184,478,710...184,497,951
JBrowse link
G LOC100739163 glutathione S-transferase P-like ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:20623750, PMID:20798258 RGD:6903954 NCBI chr 2:4,978,761...4,982,233 JBrowse link
G LOC110258578 interleukin-1 beta-like 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
G LRP2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29286200 NCBI chr15:75,565,299...75,754,604
Ensembl chr15:75,565,301...75,716,694
JBrowse link
G MB myoglobin ISO protein: increased expression: serum RGD PMID:9822635, PMID:23497406 RGD:7244253, RGD:7244259
G MET MET proto-oncogene, receptor tyrosine kinase ISO protein:increased expression:renal parenchyma (rat) RGD PMID:17940345 RGD:2317469 NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,044...29,541,512
JBrowse link
G MFN1 mitofusin 1 ISO protein:decreased expression:kidney (rat) RGD PMID:26480480 RGD:12910862 NCBI chr13:117,404,637...117,441,750
Ensembl chr13:117,404,699...117,442,481
JBrowse link
G MIR10A microRNA mir-10a ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr12:24,833,644...24,833,723
Ensembl chr12:24,833,627...24,833,730
JBrowse link
G MIR122 microRNA mir-122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 1:162,329,776...162,329,860
Ensembl chr 1:162,329,767...162,329,860
JBrowse link
G MIR140 microRNA mir-140 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 6:17,077,530...17,077,599
Ensembl chr 6:17,077,507...17,077,620
JBrowse link
G MIR143 microRNA mir-143 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 2:150,578,738...150,578,817
Ensembl chr 2:150,578,738...150,578,817
JBrowse link
G MIR146B microRNA mir-146b ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr14:113,446,854...113,446,952 JBrowse link
G MIR148A microRNA mir-148a ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr18:46,415,213...46,415,280
Ensembl chr18:46,415,202...46,415,281
JBrowse link
G MIR151 microRNA mir-151 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 4:2,849,041...2,849,120
Ensembl chr 4:2,849,038...2,849,130
JBrowse link
G MIR192 microRNA mir-192 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 2:7,285,667...7,285,746
Ensembl chr 2:7,285,667...7,285,746
JBrowse link
G MIR23A microRNA mir-23a ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 2:65,308,117...65,308,186
Ensembl chr 2:65,308,117...65,308,186
JBrowse link
G MIR30A microRNA mir-30a ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 1:51,412,827...51,412,933
Ensembl chr 1:51,412,827...51,412,933
JBrowse link
G MIR30D microRNA mir-30d ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 4:6,948,669...6,948,747
Ensembl chr 4:6,948,669...6,948,747
JBrowse link
G MIR99A microRNA mir-99a ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr13:181,302,483...181,302,562
Ensembl chr13:181,302,478...181,302,567
JBrowse link
G MIRLET7I microRNA let-7i ISO CTD Direct Evidence: marker/mechanism CTD PMID:30682439 NCBI chr 5:27,252,802...27,252,886
Ensembl chr 5:27,252,787...27,252,894
JBrowse link
G MPO myeloperoxidase ISO CTD Direct Evidence: marker/mechanism
DNA:haplotye: :
CTD
RGD
PMID:19793022, PMID:20623750, PMID:22739978 RGD:6909168, RGD:6909185 NCBI chr12:34,557,031...34,570,091
Ensembl chr12:34,556,408...34,567,904
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17387702 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO RGD PMID:23022334 RGD:7245507 NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888
JBrowse link
G MUC20 mucin 20, cell surface associated ISO RGD PMID:14565953 RGD:7364790 NCBI chr13:134,254,978...134,265,950 JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor susceptibility ISO protein:decreased phosphorylation:kidney (mouse) RGD PMID:23228991 RGD:7207407 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,119...12,461,078
JBrowse link
G NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 ISO RGD PMID:22160772 RGD:13801199 NCBI chr14:111,626,827...111,633,548
Ensembl chr14:111,626,095...111,633,564
JBrowse link
G NES nestin ISO RGD PMID:24503548 RGD:11570523 NCBI chr 4:93,412,660...93,421,899
Ensembl chr 4:93,412,557...93,421,895
JBrowse link
G NFE2L2 nuclear factor, erythroid 2 like 2 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:24291173, PMID:24958931 RGD:10412697 NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,648...83,146,183
JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29286200 NCBI chr 8:118,391,010...118,478,927
Ensembl chr 8:118,390,637...118,506,691
JBrowse link
G NOS1 nitric oxide synthase 1 ISO RGD PMID:14531809 RGD:13825139 NCBI chr14:35,112,898...35,299,297
Ensembl chr14:35,113,184...35,295,972
JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9810145 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,944...44,327,111
JBrowse link
G NOS3 nitric oxide synthase 3 ISO in females;mRNA:increased expression:cortex of kidney (rat)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:9788586, PMID:28947737 RGD:13450947 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G NPPA natriuretic peptide A ISO mRNA:increased expression:kidney
CTD Direct Evidence: marker/mechanism|therapeutic
RGD
CTD
PMID:1825077, PMID:2948068, PMID:19298916, PMID:22209992 RGD:7247715 NCBI chr 6:71,919,557...71,921,345
Ensembl chr 6:71,919,495...71,932,254
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 6:71,930,374...71,931,843
Ensembl chr 6:71,919,495...71,932,254
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 6:17,292,962...17,302,593
Ensembl chr 6:17,292,769...17,302,590
JBrowse link
G OCLN occludin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19766176 NCBI chr16:47,600,175...47,652,435
Ensembl chr16:47,600,498...47,654,033
JBrowse link
G ORM1 orosomucoid 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 1:254,939,154...254,943,065 JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO RGD PMID:21884784 RGD:5510015 NCBI chr10:14,203,157...14,241,164
Ensembl chr10:14,203,159...14,241,197
JBrowse link
G PKD2 polycystin 2, transient receptor potential cation channel ISO protein:altered localization RGD PMID:12089381 RGD:7175293 NCBI chr 8:131,002,973...131,058,932
Ensembl chr 8:131,005,407...131,058,932
JBrowse link
G PLAT plasminogen activator, tissue type ISO protein:increased expression:plasma (human) RGD PMID:9767551 RGD:11541071 NCBI chr17:11,195,599...11,223,821
Ensembl chr17:11,195,602...11,224,032
JBrowse link
G PLG plasminogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 1:7,062,399...7,109,521
Ensembl chr 1:7,061,191...7,110,555
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:17216604 NCBI chr 3:113,661,712...113,668,558 JBrowse link
G PPARG peroxisome proliferator activated receptor gamma treatment ISO CTD Direct Evidence: marker/mechanism|therapeutic RGD
CTD
PMID:17494862, PMID:20623750, PMID:24011919, PMID:24433871 RGD:8553020 NCBI chr13:68,301,566...68,433,951
Ensembl chr13:68,302,655...68,433,947
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO associated with Endotoxemia RGD PMID:21881206 RGD:7242026 NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,961,909
JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa treatment ISO RGD PMID:19092124 RGD:11250410 NCBI chr15:25,043,543...25,054,310
Ensembl chr15:25,032,622...25,056,595
JBrowse link
G PROCR protein C receptor treatment ISO associated with Sepsis RGD PMID:23807243 RGD:10755583 NCBI chr17:38,532,530...38,537,397
Ensembl chr17:38,532,554...38,537,397
JBrowse link
G PTAFR platelet activating factor receptor treatment ISO associated with Endotoxemia RGD PMID:2538527 RGD:10043182 NCBI chr 6:85,235,390...85,272,360
Ensembl chr 6:85,235,390...85,272,333
JBrowse link
G PTGER4 prostaglandin E receptor 4 treatment ISO RGD PMID:16871242 RGD:10003092 NCBI chr16:25,670,832...25,686,556
Ensembl chr16:25,670,862...25,686,552
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:21893983 RGD:5508181 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,013...127,858,884
JBrowse link
G RAPGEF3 Rap guanine nucleotide exchange factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21745194 NCBI chr 5:78,101,286...78,134,150
Ensembl chr 5:78,101,289...78,134,103
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO associated with Sepsis;protein:increased phosphorylation:kidney RGD PMID:19428114 RGD:8547990 NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,759...19,317,690
JBrowse link
G SCGB1A1 secretoglobin family 1A member 1 ISO associated with LPS induced endotoxemia RGD PMID:18824919 RGD:2313129 NCBI chr 2:9,297,282...9,302,204
Ensembl chr 2:9,297,283...9,302,165
JBrowse link
G SERPINA1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 7:115,604,282...115,616,915
Ensembl chr 7:115,604,285...115,614,633
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 9:116,181,988...116,193,100
Ensembl chr 9:116,181,980...116,193,201
JBrowse link
G SIRT1 sirtuin 1 severity ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:kidney (rat)
CTD
RGD
PMID:21416250 RGD:10047111 NCBI chr14:71,091,167...71,126,351
Ensembl chr14:71,091,157...71,123,299
JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20623750 NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396
JBrowse link
G SLC22A1 solute carrier family 22 member 1 treatment ISO RGD PMID:22414646 RGD:7243179 NCBI chr 1:7,340,442...7,365,543
Ensembl chr 1:7,340,116...7,365,520
JBrowse link
G SLC22A12 solute carrier family 22 member 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14655203 NCBI chr 2:7,557,822...7,565,801
Ensembl chr 2:7,557,827...7,565,895
JBrowse link
G SLC22A2 solute carrier family 22 member 2 treatment
susceptibility
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 1:7,289,278...7,323,418
Ensembl chr 1:7,289,831...7,323,146
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 2:80,548,208...80,563,380
Ensembl chr 2:80,548,232...80,563,321
JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,749
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11274264, PMID:20623750, PMID:22863853 RGD:6903264 NCBI chr 8:131,077,786...131,085,334
Ensembl chr 8:131,077,786...131,085,340
JBrowse link
G TF transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr13:74,930,655...74,970,599
Ensembl chr13:74,930,655...74,970,599
JBrowse link
G TFF3 trefoil factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chr13:205,641,038...205,644,333
Ensembl chr13:205,642,374...205,644,334
JBrowse link
G TGFA transforming growth factor alpha ISO mRNA:increased expression:kidney RGD PMID:11340354 RGD:10395241 NCBI chr 3:71,948,232...72,054,257
Ensembl chr 3:71,948,137...72,050,488
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10469268 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,169...49,349,048
JBrowse link
G THBD thrombomodulin treatment ISO RGD PMID:17804460, PMID:19176699 RGD:5684994, RGD:5685010 NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,221,819...30,230,177
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 chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,991...75,446,850
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 chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,059,004
JBrowse link
G TLR9 toll like receptor 9 ISO associated with Sepsis RGD PMID:23548820 RGD:7245966 NCBI chr13:34,353,444...34,370,990 JBrowse link
G TNF tumor necrosis factor susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16595132, PMID:18460982, PMID:20623750, PMID:21150875 RGD:7245548 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G TNFRSF12A TNF receptor superfamily member 12A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chr 3:39,166,288...39,168,294
Ensembl chr 3:39,166,294...39,168,303
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 chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,073...64,331,909
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO associated with Acute Lung Injury
associated with Shock, Septic;protein:increased expression:serum
RGD PMID:12500222, PMID:12865254, PMID:18074478 RGD:5128661, RGD:7245532, RGD:7245534 NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,149
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20603111 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
JBrowse link
G TTR transthyretin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chr 6:115,496,338...115,503,974
Ensembl chr 6:115,496,193...115,503,977
JBrowse link
G UTS2R urotensin 2 receptor ISO RGD PMID:15146030 RGD:2306847 NCBI chr12:695,765...700,678 JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:20943766, PMID:22808199 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
JBrowse link
G WNT4 Wnt family member 4 ISO RGD PMID:12707392 RGD:727218 NCBI chr 6:80,110,238...80,138,165 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 chr 3:107,987,060...108,052,043
Ensembl chr 3:107,986,528...108,080,151
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 6:147,177,029...147,257,799
Ensembl chr 6:147,177,029...147,257,814
JBrowse link
G BMP7 bone morphogenetic protein 7 ISO associated with Kidney Reperfusion Injury;protein:increased expression:kidney RGD PMID:16284088 RGD:1601494 NCBI chr17:57,567,770...57,676,516
Ensembl chr17:57,584,091...57,676,944
JBrowse link
G CCT7 chaperonin containing TCP1 subunit 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31825490 NCBI chr 3:69,527,238...69,540,489
Ensembl chr 3:69,526,534...69,546,548
JBrowse link
G CIITA class II major histocompatibility complex transactivator ISO mRNA:increased expression:kidney RGD PMID:9422398 RGD:7242901 NCBI chr 3:32,171,706...32,230,775
Ensembl chr 3:32,172,214...32,230,780
JBrowse link
G FABP1 fatty acid binding protein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18368030 NCBI chr 3:57,850,511...57,854,966
Ensembl chr 3:57,850,499...57,854,964
JBrowse link
G GSR glutathione-disulfide reductase ISO protein:decreased activity:renal cortex: RGD PMID:12885594, PMID:17078987 RGD:7257555, RGD:7257573 NCBI chr15:54,382,564...54,433,989
Ensembl chr15:54,382,567...54,433,989
JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 ISO protein:increased expression:kidney tubule, urine: RGD PMID:12081583 RGD:7245970 NCBI chr16:66,162,318...66,208,868 JBrowse link
G NOG noggin ISO associated with Kidney Reperfusion Injury RGD PMID:16284088 RGD:1601494 NCBI chr12:32,891,321...32,892,206
Ensembl chr12:32,891,321...32,892,206
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:4358912, PMID:6254450 NCBI chr 3:113,661,712...113,668,558 JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19834340 NCBI chr 5:3,302,755...3,321,091
Ensembl chr 5:3,300,708...3,366,361
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:19917352 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,651,280...7,691,723
JBrowse link
G TEK TEK receptor tyrosine kinase ISO associated with Kidney Reperfusion Injury RGD PMID:16284088 RGD:1601494 NCBI chr 1:195,938,177...196,052,294
Ensembl chr 1:195,937,394...196,051,957
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 chr15:120,219,657...120,230,203 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 9:44,216,481...44,218,360
Ensembl chr 9:44,216,393...44,218,978
JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:22194975 RGD:7207900 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,991...75,446,850
JBrowse link
G TLR4 toll like receptor 4 ISO RGD PMID:22194975 RGD:7207900 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,059,004
JBrowse link
AIDS-Associated Nephropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGTR1 angiotensin II receptor type 1 ISO RGD PMID:2 RGD:1303381 NCBI chr13:88,934,873...88,980,317
Ensembl chr13:88,934,868...88,983,131
JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO RGD PMID:2 RGD:1303381 NCBI chr  X:95,267,709...95,272,237
Ensembl chr  X:95,269,300...95,270,388
JBrowse link
G EGF epidermal growth factor ISO RGD PMID:19357719 RGD:6906909 NCBI chr 8:112,235,607...112,330,062
Ensembl chr 8:112,234,365...112,330,046
JBrowse link
G HP haptoglobin ISO protein:increased expression:urine RGD PMID:19279121 RGD:11041816 NCBI chr 6:14,980,382...14,985,245 JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO RGD PMID:23678040 RGD:7245474 NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888
JBrowse link
G MYH9 myosin heavy chain 9 ISO protein:decreased expression:glomerulus RGD PMID:22313957 RGD:6903274 NCBI chr 5:11,365,603...11,456,475 JBrowse link
G NOTCH4 notch receptor 4 ISO protein: increased expression: kidney RGD PMID:20706108 RGD:6480788 NCBI chr 7:24,231,293...24,256,281
Ensembl chr 7:24,231,293...24,256,281
JBrowse link
Albuminuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 treatment ISO CTD Direct Evidence: marker/mechanism
associated with Diabetic Nephropathies
associated with Diabetes Mellitus, Type 1;protein:increased activity:serum (human)
CTD
RGD
PMID:1336356, PMID:16902320, PMID:23733546 RGD:12879427, RGD:7829770 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,639
JBrowse link
G ADM adrenomedullin ISO associated with Hypertension RGD PMID:19424162 RGD:2313311 NCBI chr 2:49,229,223...49,231,521
Ensembl chr 2:49,229,223...49,231,866
JBrowse link
G AGER advanced glycosylation end-product specific receptor treatment ISO associated with Diabetes Mellitus, Type 2; protein:increased expression:serum (human)
associated with Diabetic Nephropathies
associated with Diabetes Mellitus, Experimental
RGD PMID:20627935, PMID:21607631, PMID:21796806 RGD:7243944, RGD:7244135, RGD:7244184 NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,116...24,228,756
JBrowse link
G AGT angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:12414515, PMID:18679781, PMID:21896938 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,672,428
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 chr18:14,593,516...14,752,316
Ensembl chr18:14,593,548...14,752,310
JBrowse link
G ALB albumin ISO associated with hypertension
associated with Diabetes Mellitus, Insulin-Dependent
RGD PMID:15102963, PMID:19414946 RGD:1601157, RGD:2306884 NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,718,304
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 chr12:52,401,861...52,414,913
Ensembl chr12:52,286,019...52,414,907
JBrowse link
G B2M beta-2-microglobulin ISO associated with HIV infections;protein:increased expression:urine RGD PMID:18469311 RGD:6482713 NCBI chr 1:126,837,721...126,844,043
Ensembl chr 1:126,835,143...126,981,582
JBrowse link
G CASP1 caspase 1, apoptosis-related cysteine peptidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 9:35,188,066...35,199,364
Ensembl chr 9:35,186,420...35,200,328
JBrowse link
G CASR calcium sensing receptor ISO associated with Uremia RGD PMID:19188910 RGD:7205661 NCBI chr13:138,279,785...138,364,934
Ensembl chr13:138,280,363...138,364,253
JBrowse link
G CCL4 C-C motif chemokine ligand 4 ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:urine RGD PMID:21113841 RGD:5683918 NCBI chr12:39,479,190...39,480,511
Ensembl chr12:39,478,885...39,557,358
JBrowse link
G CD38 CD38 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21992601 NCBI chr 8:11,083,682...11,130,783
Ensembl chr 8:11,083,682...11,130,785
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 3:32,171,706...32,230,775
Ensembl chr 3:32,172,214...32,230,780
JBrowse link
G CP ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21752484 NCBI chr13:89,396,713...89,463,540
Ensembl chr13:89,396,685...89,463,538
JBrowse link
G CRP C-reactive protein, pentraxin-related severity ISO associated with Anemia, Sickle Cell; protein:increased expression:serum
associated with hypertension
RGD PMID:20016210, PMID:20710104 RGD:6907441, RGD:6909147 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,722,352...90,805,236
JBrowse link
G CSF1 colony stimulating factor 1 treatment ISO associated with Hypercholesterolemia and Diabetes Mellitus, Experimental RGD PMID:8573750 RGD:7257591 NCBI chr 4:110,178,466...110,198,232
Ensembl chr 4:110,178,478...110,197,901
JBrowse link
G CST3 cystatin C ISO associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human) RGD PMID:19596469 RGD:2314309 NCBI chr17:30,471,056...30,474,486
Ensembl chr17:30,470,855...30,474,590
JBrowse link
G CTSB cathepsin B ISO associated with Hypertension RGD PMID:19023196 RGD:2315726 NCBI chr14:15,014,139...15,035,081
Ensembl chr14:15,011,711...15,034,737
JBrowse link
G CTSL cathepsin L ISO associated with Hypertension RGD PMID:19023196 RGD:2315726 NCBI chr10:27,668,523...27,674,705
Ensembl chr10:27,668,264...27,674,618
JBrowse link
G DRD1 dopamine receptor D1 ISO DNA:polymorphism:5' utr:g.-94G>A rs5326 (human) RGD PMID:17353515 RGD:7248452 NCBI chr16:49,189,555...49,193,722
Ensembl chr16:49,188,936...49,193,709
JBrowse link
G EDN1 endothelin 1 ISO protein:increased expression:renal papilla (rat) RGD PMID:20666571 RGD:4144838 NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
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 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
JBrowse link
G F7 coagulation factor VII severity
no_association
ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human)
associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human)
RGD PMID:8250495, PMID:8458188, PMID:9187410 RGD:2312406, RGD:2312407, RGD:2312410 NCBI chr11:78,512,389...78,518,668
Ensembl chr11:78,512,158...78,518,671
JBrowse link
G FBN1 fibrillin 1 ISO associated with Hypertension RGD PMID:16380460 RGD:7365080 NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649
JBrowse link
G GNAQ G protein subunit alpha q ISO CTD Direct Evidence: marker/mechanism CTD PMID:16267159 NCBI chr 1:230,607,469...230,906,988
Ensembl chr 1:230,605,229...230,907,675
JBrowse link
G GPC5 glypican 5 ISO CTD Direct Evidence: therapeutic CTD PMID:21441931 NCBI chr11:60,791,000...62,149,911
Ensembl chr11:60,791,032...62,146,238
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 chr16:66,162,318...66,208,868 JBrowse link
G IGF1 insulin like growth factor 1 susceptibility ISO RGD PMID:16645019 RGD:1598420 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,037
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17167242 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G INS insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:9861226, PMID:29420703 NCBI chr 2:1,496,842...1,498,052
Ensembl chr 2:1,496,842...1,497,841
JBrowse link
G LEPR leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17065336, PMID:20175764, PMID:23159718, PMID:29988851 NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,798,979...146,896,108
JBrowse link
G LIPC lipase C, hepatic type ISO associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma (human) RGD PMID:8666151 RGD:2308836 NCBI chr 1:113,433,684...113,604,139
Ensembl chr 1:113,433,679...113,604,306
JBrowse link
G LOC100522011 apoptosis-associated speck-like protein containing a CARD ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 3:17,305,921...17,307,521
Ensembl chr 3:17,306,179...17,307,512
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO RGD PMID:23103566 RGD:7175089
G LRP2 LDL receptor related protein 2 ISO RGD PMID:12121845 RGD:1641839 NCBI chr15:75,565,299...75,754,604
Ensembl chr15:75,565,301...75,716,694
JBrowse link
G MIR130A microRNA mir-130a ISO CTD Direct Evidence: marker/mechanism CTD PMID:24223694 NCBI chr 2:13,296,695...13,296,773
Ensembl chr 2:13,296,695...13,296,773
JBrowse link
G MIR145 microRNA mir-145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24223694 NCBI chr 2:150,580,126...150,580,211
Ensembl chr 2:150,580,126...150,580,211
JBrowse link
G MIR155 microRNA mir-155 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24223694 NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902
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 chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
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 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
JBrowse link
G MYH9 myosin heavy chain 9 ISO associated with hypertension;DNA:SNPs: : RGD PMID:19153477 RGD:6903241 NCBI chr 5:11,365,603...11,456,475 JBrowse link
G NCK1 NCK adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr13:77,863,655...77,940,944
Ensembl chr13:77,863,701...77,986,156
JBrowse link
G NCK2 NCK adaptor protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr 3:49,063,813...49,222,274
Ensembl chr 3:49,063,988...49,198,664
JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15684566 NCBI chr 6:45,248,325...45,271,892
Ensembl chr 6:45,248,317...45,271,550
JBrowse link
G NPHS2 NPHS2 stomatin family member, podocin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15684566 NCBI chr 9:121,217,734...121,236,214
Ensembl chr 9:121,216,496...121,236,178
JBrowse link
G PDPN podoplanin ISO RGD PMID:18199599 RGD:2292240 NCBI chr 6:73,019,063...73,050,000 JBrowse link
G PON1 paraoxonase 1 ISO DNA:polymorphisms:promoter, cds (human) RGD PMID:16949520 RGD:2313272 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,724
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 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,961,909
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17890881 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,013...127,858,884
JBrowse link
G PTH parathyroid hormone ISO associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human) RGD PMID:23066118 RGD:7242730 NCBI chr 2:45,757,398...45,760,433
Ensembl chr 2:45,757,398...45,760,415
JBrowse link
G RAB38 RAB38, member RAS oncogene family ISO RGD PMID:15758045 RGD:1357409 NCBI chr 9:21,577,083...21,640,637
Ensembl chr 9:21,577,172...21,640,115
JBrowse link
G REN renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12414515, PMID:18679781 NCBI chr 9:64,809,143...64,822,605
Ensembl chr 9:64,809,146...64,822,636
JBrowse link
G RETN resistin ISO associated with Hypertension;protein:increased expression:blood RGD PMID:20203628 RGD:7207150 NCBI chr 2:71,484,164...71,485,577
Ensembl chr 2:71,484,169...71,485,616
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 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,564
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 chr12:47,949,004...47,959,471
Ensembl chr12:47,943,051...47,959,472
JBrowse link
G SH2B3 SH2B adaptor protein 3 ISO RGD PMID:25776069 RGD:13442483 NCBI chr14:32,623,286...32,664,606
Ensembl chr14:32,623,308...32,664,598
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17942768 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,651,280...7,691,723
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:18443355 RGD:6903862 NCBI chr 8:131,077,786...131,085,334
Ensembl chr 8:131,077,786...131,085,340
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17167242 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G TRPC3 transient receptor potential cation channel subfamily C member 3 ISO associated with Hypertension;mRNA, protein:increased expression:kidney cortex RGD PMID:19887786 RGD:7247603 NCBI chr 8:102,129,539...102,206,512
Ensembl chr 8:102,129,457...102,206,951
JBrowse link
G TRPC5 transient receptor potential cation channel subfamily C member 5 ISO RGD PMID:24231357 RGD:10043830 NCBI chr  X:91,716,334...91,988,364
Ensembl chr  X:91,721,617...91,988,120
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 9:32,332,768...32,439,184
Ensembl chr 9:32,332,769...32,439,184
JBrowse link
G TSLP thymic stromal lymphopoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17686814 NCBI chr 2:115,832,152...115,837,572 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 4:117,496,914...117,511,211
Ensembl chr 4:117,496,908...117,511,226
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 chr15:128,611,640...128,763,331
Ensembl chr15:128,611,866...128,763,122
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 chr15:128,472,228...128,612,302
Ensembl chr15:128,472,228...128,612,379
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:88,958,837...89,183,306
Ensembl chr  X:88,958,825...89,183,374
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO RGD PMID:22937108 RGD:7175090
G MMP12 matrix metallopeptidase 12 ISO RGD PMID:16816359 RGD:7241212 NCBI chr 9:33,473,625...33,483,630
Ensembl chr 9:33,473,085...33,483,679
JBrowse link
G MMP3 matrix metallopeptidase 3 ISO protein:increased expression:kidney RGD PMID:16509766 RGD:7241252 NCBI chr 9:33,446,969...33,453,995
Ensembl chr 9:33,411,065...33,454,000
JBrowse link
G MYH9 myosin heavy chain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10973259 NCBI chr 5:11,365,603...11,456,475 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 chr12:11,606,469...11,663,086
Ensembl chr12:11,607,233...11,657,738
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 chr12:11,662,344...11,681,490
Ensembl chr12:11,662,347...11,681,202
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:88,634,925...88,750,938
Ensembl chr  X:88,634,925...88,957,402
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 chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,672,428
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO protein:increased expression:kidney RGD PMID:21282555 RGD:5129185 NCBI chr13:88,934,873...88,980,317
Ensembl chr13:88,934,868...88,983,131
JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO mRNA, protein:increased expression:kidney RGD PMID:12234300 RGD:1579984 NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,187,260...54,228,144
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO mRNA, protein:decreased expression:kidney RGD PMID:12234300 RGD:1579984 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,288,544...158,518,879
JBrowse link
G CCL17 C-C motif chemokine ligand 17 ISO mRNA:increased expression:glomerulus RGD PMID:20071465 RGD:4145614 NCBI chr 6:19,345,929...19,372,972
Ensembl chr 6:19,345,941...19,348,926
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 treatment ISO mRNA:increased expression:glomerulus RGD PMID:17898087, PMID:20071465, PMID:21894146 RGD:2307059, RGD:4145614, RGD:6218988 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CCL22 C-C motif chemokine ligand 22 ISO mRNA, protein:increased expression:glomerulus RGD PMID:12651599 RGD:2306306 NCBI chr 6:19,296,726...19,301,506
Ensembl chr 6:19,296,711...19,302,000
JBrowse link
G CCL4 C-C motif chemokine ligand 4 ISO mRNA:increased expression:glomerulus RGD PMID:17898087 RGD:2307059 NCBI chr12:39,479,190...39,480,511
Ensembl chr12:39,478,885...39,557,358
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:glomerulus RGD PMID:17898087 RGD:2307059 NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
JBrowse link
G CD274 CD274 molecule treatment ISO RGD PMID:21965585 RGD:7248671 NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,047...216,792,724
JBrowse link
G CD40 CD40 molecule ISO RGD PMID:15210767 RGD:7248442 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:15458437 RGD:5508170 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,711
JBrowse link
G CD80 CD80 molecule ISO RGD PMID:10712436 RGD:6902936 NCBI chr13:140,693,312...140,730,541
Ensembl chr13:140,693,382...140,728,980
JBrowse link
G CFB complement factor B ISO RGD PMID:22492944 RGD:7242700 NCBI chr 7:24,034,077...24,040,523 JBrowse link
G CLU clusterin ISO protein:increased expression:urine RGD PMID:23791361 RGD:9068422 NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,590...11,352,475
JBrowse link
G CSF1 colony stimulating factor 1 treatment ISO RGD PMID:19242505 RGD:7257569 NCBI chr 4:110,178,466...110,198,232
Ensembl chr 4:110,178,478...110,197,901
JBrowse link
G CSF1R colony stimulating factor 1 receptor treatment ISO RGD PMID:19242505 RGD:7257569 NCBI chr 2:151,102,138...151,130,311
Ensembl chr 2:151,102,138...151,147,634
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 treatment ISO RGD PMID:8206086, PMID:10712436 RGD:11352257, RGD:6902936 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,926...107,289,103
JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO mRNA, protein:increased expression:glomerulus RGD PMID:19590241 RGD:4891946 NCBI chr 6:19,312,351...19,324,439 JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO mRNA, protein:increased expression:glomerulus RGD PMID:19590241 RGD:4891946 NCBI chr13:23,944,386...23,957,567
Ensembl chr13:23,944,369...23,957,486
JBrowse link
G CXCL12 C-X-C motif chemokine ligand 12 ISO mRNA:increased expression:glomerulus RGD PMID:17557270 RGD:2306579 NCBI chr14:91,516,383...91,543,857
Ensembl chr14:91,516,429...91,552,766
JBrowse link
G DUSP1 dual specificity phosphatase 1 ISO mRNA:increased expression:glomerulus RGD PMID:8587253 RGD:633769 NCBI chr16:51,457,924...51,461,095
Ensembl chr16:51,458,020...51,461,086
JBrowse link
G FCGR3A Fc fragment of IgG receptor IIIa no_association ISO DNA:polymorphism:exon:(rs396991)(human)
DNA:cnv: :
RGD PMID:19640933, PMID:19946017 RGD:5508400, RGD:5508403 NCBI chr 4:88,948,357...88,956,513 JBrowse link
G GP6 glycoprotein VI platelet ISO RGD PMID:20651232 RGD:7242710 NCBI chr 6:59,214,227...59,237,860 JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:23826305 RGD:7365004 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G IL17A interleukin 17A treatment ISO RGD PMID:23826305 RGD:7365004 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
JBrowse link
G IL18 interleukin 18 ISO RGD PMID:22046355 RGD:6893447 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,966...39,873,300
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO RGD PMID:20071465 RGD:4145614
G IL4 interleukin 4 ISO RGD PMID:9350645, PMID:17898087 RGD:2307059, RGD:2317673 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
JBrowse link
G ITGA4 integrin subunit alpha 4 treatment ISO RGD PMID:7679412, PMID:9032136 RGD:2308810, RGD:9698425 NCBI chr15:86,942,054...87,028,428
Ensembl chr15:86,947,021...87,029,777
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO mRNA:increased expression:kidney (mouse)
mRNA, protein:increased expression:kidney
RGD PMID:9198037, PMID:22046355 RGD:6893447, RGD:7401232
G MAPK14 mitogen-activated protein kinase 14 ISO RGD PMID:21894146 RGD:6218988 NCBI chr 7:31,791,398...31,861,544
Ensembl chr 7:31,790,104...31,862,038
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 ISO RGD PMID:21894146 RGD:6218988 NCBI chr14:88,988,914...89,108,875
Ensembl chr14:88,988,949...89,172,200
JBrowse link
G MIF macrophage migration inhibitory factor ISO RGD PMID:10780884 RGD:1642011 NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,862,317
JBrowse link
G MMP12 matrix metallopeptidase 12 ISO RGD PMID:21894146 RGD:6218988 NCBI chr 9:33,473,625...33,483,630
Ensembl chr 9:33,473,085...33,483,679
JBrowse link
G MMP14 matrix metallopeptidase 14 ISO mRNA:increased expression:kidney, macrophage RGD PMID:10878552 RGD:2314954 NCBI chr 7:76,174,502...76,185,931
Ensembl chr 7:76,174,500...76,185,923
JBrowse link
G NOS2 nitric oxide synthase 2 ISO RGD PMID:21894146 RGD:6218988 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,944...44,327,111
JBrowse link
G NPPB natriuretic peptide B ISO RGD PMID:11729234 RGD:7248605 NCBI chr 6:71,930,374...71,931,843
Ensembl chr 6:71,919,495...71,932,254
JBrowse link
G PDCD1 programmed cell death 1 treatment ISO RGD PMID:21965585 RGD:7248671 NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,210...140,347,478
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO RGD PMID:17888025 RGD:5563035 NCBI chr 5:3,302,755...3,321,091
Ensembl chr 5:3,300,708...3,366,361
JBrowse link
G PTK2B protein tyrosine kinase 2 beta ISO protein:increased expression:glomerulus RGD PMID:11774117 RGD:729912 NCBI chr14:11,063,662...11,194,196
Ensembl chr14:11,064,492...11,194,194
JBrowse link
G RAPGEF1 Rap guanine nucleotide exchange factor 1 ISO protein:increased expression:renal glomerulus RGD PMID:18784646 RGD:11534983 NCBI chr 1:271,494,243...271,624,609
Ensembl chr 1:271,494,248...271,600,879
JBrowse link
G SELP selectin P ISO RGD PMID:21894146 RGD:6218988 NCBI chr 4:81,376,804...81,401,240
Ensembl chr 4:81,365,740...81,406,203
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 2:80,548,208...80,563,380
Ensembl chr 2:80,548,232...80,563,321
JBrowse link
G SLIT2 slit guidance ligand 2 ISO mRNA:decreased expression:kidney, glomerulus RGD PMID:15215188 RGD:2316132 NCBI chr 8:14,758,426...15,149,515
Ensembl chr 8:14,756,619...15,149,510
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:20504883 RGD:6903276 NCBI chr 8:131,077,786...131,085,334
Ensembl chr 8:131,077,786...131,085,340
JBrowse link
G SYK spleen associated tyrosine kinase ISO RGD PMID:21894146 RGD:6218988 NCBI chr14:2,103,706...2,160,886
Ensembl chr14:2,056,712...2,161,172
JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:21894146 RGD:6218988 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO protein:increased expression:urine, serum: RGD PMID:23460853 RGD:7241232 NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,908...117,511,226
JBrowse link
G XCL1 chemokine (C motif) ligand 1 ISO mRNA:increased expression:glomerulus RGD PMID:9717977 RGD:8693304 NCBI chr 4:82,432,845...82,436,150
Ensembl chr 4:82,432,198...82,436,180
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 chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,672,428
JBrowse link
G ALB albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6734075 NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,718,304
JBrowse link
G PLAU plasminogen activator, urokinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8225663 NCBI chr14:76,629,313...76,635,173
Ensembl chr14:76,629,299...76,635,172
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 7:100,482,953...100,510,164
Ensembl chr 7:100,462,773...100,506,302
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 7:55,840,612...55,865,045 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 7:100,482,953...100,510,164
Ensembl chr 7:100,462,773...100,506,302
JBrowse link
G VPS33B VPS33B late endosome and lysosome associated ISO OMIM NCBI chr 7:55,840,612...55,865,045 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 7:100,482,953...100,510,164
Ensembl chr 7:100,462,773...100,506,302
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 1:273,022,014...273,066,916
Ensembl chr 1:273,022,000...273,056,039
JBrowse link
G C2 complement C2 ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar PMID:2249879, PMID:6308626, PMID:8181962, PMID:16518403, PMID:16936732, PMID:18806293, PMID:20108004, PMID:20513133, PMID:21541267, PMID:22440158, PMID:24033266, PMID:24652797, PMID:25741868 NCBI chr 7:24,020,590...24,034,042
Ensembl chr 7:23,995,982...24,034,040
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
DNA:missense mutations: :p.F603V, p.R1042L, p.I1157T (human)
CTD Direct Evidence: marker/mechanism
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 chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,499...72,528,112
JBrowse link
G C3AR1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 ClinVar NCBI chr 5:63,088,778...63,098,750 JBrowse link
G CD46 CD46 molecule, complement regulatory protein susceptibility
severity
ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
DNA:snp:intron:c.IVS8+23T>G (rs2724374) (human)
DNA:missense mutations:cds:p.R69W, p.A304V (human)
protein:increased expression:peripheral blood mononuclear cell (human)
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:multiple (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 9:135,025,439...135,078,910 JBrowse link
G CFB complement factor B susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
DNA, protein:mutations:cds: c.858C>G, F286L, c.967A>G, K323E (human)
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations: :multiple
OMIM
ClinVar
RGD
CTD
PMID:2249879, PMID:6308626, PMID:7452889, PMID:8181962, PMID:15661753, PMID:16518403, PMID:16936732, PMID:17182750, PMID:18806293, PMID:20108004, PMID:20513133, PMID:21541267, PMID:22440158, PMID:23847193, PMID:24033266, PMID:24652797, PMID:25741868, PMID:26054779 RGD:11040768, RGD:7242707 NCBI chr 7:24,034,077...24,040,523 JBrowse link
G CFH complement factor H susceptibility IEA
ISO
Membranoproliferative glomerulonephritis type II OMIA
OMIM
PMID:7883953, PMID:8238252, PMID:8323737, PMID:8533215, PMID:9141221, PMID:9461093, PMID:12466119, PMID:21628719
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
RGD
CTD
PMID:15173250, PMID:16621965, PMID:18557729, PMID:18825487, PMID:19877009, PMID:20016463, PMID:20106822, PMID:20203157, PMID:20513133, PMID:20595690, PMID:22710145, PMID:23307876, PMID:23314101, PMID:23431077, PMID:23685748, PMID:23787556, PMID:24033266, PMID:24034049, PMID:24036952, PMID:24161037, PMID:25037630, PMID:25135378, PMID:25741868, PMID:25758434, PMID:27268256, PMID:28282489, PMID:28492532 RGD:6906889 NCBI chr 8:112,430,824...112,470,844 JBrowse link
G DGKE diacylglycerol kinase epsilon ISO CTD Direct Evidence: marker/mechanism
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 chr12:33,141,439...33,172,412
Ensembl chr12:33,141,505...33,172,407
JBrowse link
G LOC102158534 bile acid-CoA:amino acid N-acyltransferase-like ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 ClinVar NCBI chr 1:243,065,668...243,084,816
Ensembl chr 1:243,065,795...243,084,287
JBrowse link
G THBD thrombomodulin susceptibility
no_association
severity
ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
DNA:SNPs:5' utr, 3' utr:multiple
DNA:missense mutations:CDS:multiple
CTD Direct Evidence: marker/mechanism
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 chr17:30,219,870...30,223,499
Ensembl chr17:30,221,819...30,230,177
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 chr 3:109,411,146...110,105,755 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:61,584,028...61,872,341
Ensembl chr  X:61,584,848...61,872,288
JBrowse link
G DERL3 derlin 3 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 ClinVar PMID:28492532 NCBI chr14:49,871,077...49,875,022
Ensembl chr14:49,871,218...49,877,683
JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO OMIM NCBI chr14:49,874,981...49,906,043
Ensembl chr14:49,874,984...49,906,048
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 chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
JBrowse link
Autoimmune Interstitial Lung, Joint, and Kidney Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COPA COPI coat complex subunit alpha ISO OMIM NCBI chr 4:90,142,629...90,191,743
Ensembl chr 4:90,141,216...90,193,389
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 chr15:128,611,640...128,763,331
Ensembl chr15:128,611,866...128,763,122
JBrowse link
G COL4A4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant
ClinVar Annotator: match by term: Alport syndrome, 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 chr15:128,472,228...128,612,302
Ensembl chr15:128,472,228...128,612,379
JBrowse link
G MYH9 myosin heavy chain 9 ISO DNA:missense mutation:exon:4270G>C,D1424H (human) RGD PMID:12500226 RGD:6902925 NCBI chr 5:11,365,603...11,456,475 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 chr13:138,279,785...138,364,934
Ensembl chr13:138,280,363...138,364,253
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 chr 5:66,028,591...66,038,078
Ensembl chr 5:66,028,776...66,037,739
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, sub-family G (WHITE), member 2 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 8:130,853,414...130,945,388
Ensembl chr 8:130,775,472...130,998,660
JBrowse link
G ANGPT2 angiopoietin 2 ISO protein:increased expression:bile duct (rat) RGD PMID:16628643 RGD:2314213 NCBI chr15:37,544,177...37,600,925
Ensembl chr15:37,544,707...37,599,041
JBrowse link
G ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12089381 NCBI chr 1:240,522,835...240,584,354
Ensembl chr 1:240,522,837...240,584,918
JBrowse link
G BRD4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25877301 NCBI chr 2:62,250,958...62,345,851
Ensembl chr 2:62,250,987...62,345,387
JBrowse link
G C9 complement C9 disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr16:24,521,318...24,575,939
Ensembl chr16:24,525,394...24,588,030
JBrowse link
G CD14 CD14 molecule disease_progression ISO protein:altered localization:kidney,urine RGD PMID:20555320 RGD:7204130 NCBI chr 2:142,348,036...142,349,686
Ensembl chr 2:142,346,358...142,349,581
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:decreased expression:kidney RGD PMID:17714589 RGD:2289666 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761
JBrowse link
G CFB complement factor B disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr 7:24,034,077...24,040,523 JBrowse link
G DMP1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 8:131,285,238...131,319,398
Ensembl chr 8:131,285,239...131,472,785
JBrowse link
G DSPP dentin sialophosphoprotein ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 8:131,318,187...131,444,274
Ensembl chr 8:131,319,983...131,472,761
JBrowse link
G EDN1 endothelin 1 ISO mRNA, protein:increased expression:kidney (human) RGD PMID:12629276 RGD:4144854 NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
JBrowse link
G FAM13A family with sequence similarity 13 member A ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 8:130,021,581...130,327,731
Ensembl chr 8:130,021,641...130,327,729
JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit ISO protein: increased expression: kidney RGD PMID:16049073 RGD:7242198 NCBI chr 7:98,449,508...98,451,971
Ensembl chr 7:98,449,349...98,455,554
JBrowse link
G GANAB glucosidase II alpha subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant
CTD
ClinVar
NCBI chr 2:9,100,672...9,118,396
Ensembl chr 2:9,100,702...9,118,399
JBrowse link
G GPBAR1 G protein-coupled bile acid receptor 1 ISO mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr15:120,336,196...120,339,506
Ensembl chr15:120,336,488...120,339,505
JBrowse link
G GPRIN3 GPRIN family member 3 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 8:129,818,975...129,878,509 JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 ISO protein:increased expression:kidney: RGD PMID:12388382 RGD:7245969 NCBI chr16:66,162,318...66,208,868 JBrowse link
G HERC3 HECT and RLD domain containing E3 ubiquitin protein ligase 3 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 8:130,346,207...130,467,311 JBrowse link
G HERC5 HECT and RLD domain containing E3 ubiquitin protein ligase 5 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 8:130,532,256...130,591,158
Ensembl chr 8:130,533,877...130,590,841
JBrowse link
G HERC6 HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 8:130,594,941...130,665,591
Ensembl chr 8:130,594,939...130,665,145
JBrowse link
G IBSP integrin binding sialoprotein ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 8:131,208,281...131,222,048
Ensembl chr 8:131,208,282...131,222,050
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO protein:decreased expression:urine (human) RGD PMID:9090470 RGD:6909172
G ITGA8 integrin subunit alpha 8 ISO mRNA:increased expression:kidney RGD PMID:18277079 RGD:7257723 NCBI chr10:46,132,887...46,303,659
Ensembl chr10:46,132,914...46,303,365
JBrowse link
G KLHL8 kelch like family member 8 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 8:131,634,171...131,701,161
Ensembl chr 8:131,634,162...131,700,096
JBrowse link
G LOC110256448 phosphatidylinositol N-acetylglucosaminyltransferase subunit Y-like ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr13:162,392,377...162,394,317 JBrowse link
G LRP2 LDL receptor related protein 2 ISO RGD PMID:11841627 RGD:1641842 NCBI chr15:75,565,299...75,754,604
Ensembl chr15:75,565,301...75,716,694
JBrowse link
G LRP5 LDL receptor related protein 5 susceptibility ISO DNA:missense mutation:cds:multiple mutations (human) RGD PMID:25920554 RGD:11553546 NCBI chr 2:4,533,721...4,653,997
Ensembl chr 2:4,533,593...4,653,945
JBrowse link
G MEPE matrix extracellular phosphoglycoprotein ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 8:131,186,563...131,198,418
Ensembl chr 8:131,186,888...131,198,411
JBrowse link
G MMP1 matrix metallopeptidase 1 ISO protein:increased expression:serum (human) RGD PMID:10644865 RGD:7207194 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,454,000
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:plasma (human) RGD PMID:10644865 RGD:7207194 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO RGD PMID:23195001 RGD:7245504 NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:kidney (mouse)
CTD
RGD
PMID:18356167, PMID:25877301 RGD:7207457 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,119...12,461,078
JBrowse link
G NAP1L5 nucleosome assembly protein 1 like 5 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 8:130,364,566...130,365,464
Ensembl chr 8:130,364,566...130,365,464
JBrowse link
G NUDT9 nudix hydrolase 9 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 8:131,436,245...131,472,984 JBrowse link
G PITX2 paired like homeodomain 2 ISO mRNA:increased expression:kidney RGD PMID:20926632 RGD:5131995 NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,664...111,723,298
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting severity ISO DNA:mutations:multiple
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant
DNA:missense mutation:cds:p.R3277C (mouse)
CTD Direct Evidence: marker/mechanism
DNA:mutations:exons, intron:multiple
RGD
ClinVar
CTD
PMID:7581371, PMID:8004675, PMID:8554072, PMID:9521593, PMID:10200984, PMID:10364515, PMID:10854095, PMID:10987650, PMID:11058904, PMID:11115377, PMID:11216660, PMID:11558899, PMID:11571556, PMID:11691639, PMID:11840199, PMID:11857740, PMID:11967008, PMID:12007219, PMID:12070253, PMID:12089381, PMID:12482949, PMID:12842373, PMID:15772804, PMID:16430766, PMID:17574468, PMID:17582161, PMID:18077784, PMID:18640754, PMID:18837007, PMID:19165178, PMID:19401297, PMID:19686598, PMID:20558538, PMID:20981092, PMID:21115670, PMID:22008521, PMID:22090377, PMID:22185115, PMID:22333914, PMID:22383692, PMID:22508176, PMID:22608885, PMID:23064367, PMID:23300259, PMID:23431072, PMID:23760289, PMID:24033266, PMID:24374109, PMID:24694054, PMID:25333066, PMID:25646624, PMID:25741868, PMID:25877301, PMID:26139440, PMID:26453610, PMID:26467025, PMID:26632257, PMID:26661679, PMID:27499327, PMID:27567292, PMID:27884173, PMID:27894351, PMID:28887310, PMID:30333007 RGD:1601399, RGD:7175279, RGD:7175280 NCBI chr 3:39,849,579...39,899,455
Ensembl chr 3:39,849,609...39,899,455
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:20168298, PMID:20881056, PMID:20950398, PMID:21115670, PMID:21551026, PMID:22008521, PMID:22034641, PMID:22185115, PMID:22383692, PMID:22508176, PMID:22863349, PMID:22995991, PMID:23300259, PMID:23376035, PMID:24374109, PMID:24611717, PMID:24658975, PMID:24719335, PMID:24925719, PMID:25333066, PMID:25574838, PMID:25741868, PMID:25877301, PMID:26275819, PMID:26364947, PMID:26467025, PMID:26632257, PMID:26692149, PMID:27401137, PMID:27499327, PMID:27567292, PMID:27782177, PMID:27884173, PMID:27894351, PMID:28356211, PMID:28492532, PMID:28887310, PMID:29529603, PMID:30333007, PMID:30820006, PMID:30883612 RGD:7175273, RGD:7175279 NCBI chr 8:131,002,973...131,058,932
Ensembl chr 8:131,005,407...131,058,932
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:25741868, PMID:26695994, PMID:27225849, PMID:28375157, PMID:28492532, PMID:30311386 NCBI chr 7:45,447,354...45,925,141
Ensembl chr 7:45,447,357...45,925,113
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:20210794 NCBI chr13:68,301,566...68,433,951
Ensembl chr13:68,302,655...68,433,947
JBrowse link
G PPM1K protein phosphatase, Mg2+/Mn2+ dependent 1K ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 8:130,748,207...130,772,936
Ensembl chr 8:130,748,259...130,772,931
JBrowse link
G PYURF PIGY upstream reading frame ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 8:130,527,571...130,529,983 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 3:39,831,981...39,837,510
Ensembl chr 3:39,831,982...39,837,440
JBrowse link
G RPS6KB1 ribosomal protein S6 kinase B1 ISO protein:increased expression, increased activity:kidney RGD PMID:16221708 RGD:1643017 NCBI chr12:36,111,584...36,159,287 JBrowse link
G SERPING1 serpin family G member 1 disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr 2:13,324,160...13,338,826
Ensembl chr 2:13,324,158...13,338,663
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 2:80,548,208...80,563,380
Ensembl chr 2:80,548,232...80,563,321
JBrowse link
G SNCA synuclein alpha ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 8:129,247,724...129,388,307
Ensembl chr 8:129,248,819...129,388,307
JBrowse link
G SPARCL1 SPARC like 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 8:131,386,804...131,431,427
Ensembl chr 8:131,387,413...131,431,421
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant RGD
ClinVar
PMID:20926632, PMID:25741868 RGD:5131995 NCBI chr 8:131,077,786...131,085,334
Ensembl chr 8:131,077,786...131,085,340
JBrowse link
G STAT6 signal transducer and activator of transcription 6 ISO protein:increased expression:kidney, epithelial cell RGD PMID:16399078 RGD:7243978 NCBI chr 5:22,406,356...22,422,412
Ensembl chr 5:22,406,364...22,421,990
JBrowse link
G TIGD2 tigger transposable element derived 2 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 8:129,994,898...129,998,255
Ensembl chr 8:129,993,339...129,998,221
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 chr15:126,191,605...126,287,148
Ensembl chr15:126,189,851...126,287,037
JBrowse link
G KLHL3 kelch like family member 3 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 2:139,632,868...139,890,079
Ensembl chr 2:139,632,870...139,920,497
JBrowse link
G NR3C2 nuclear receptor subfamily 3 group C member 2 ISO OMIM NCBI chr 8:80,303,172...80,669,050
Ensembl chr 8:80,290,715...80,669,404
JBrowse link
G STX16 syntaxin 16 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar NCBI chr17:58,839,982...58,873,396
Ensembl chr17:58,840,004...58,891,249
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 chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,678...4,385,272
JBrowse link
autosomal recessive Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCR1 C-C motif chemokine receptor 1 ISO RGD PMID:15716328 RGD:5688157 NCBI chr13:29,227,218...29,233,862
Ensembl chr13:29,227,220...29,233,960
JBrowse link
G COL4A3 collagen type IV alpha 3 chain ISO OMIM NCBI chr15:128,611,640...128,763,331
Ensembl chr15:128,611,866...128,763,122
JBrowse link
G COL4A4 collagen type IV alpha 4 chain ISO OMIM NCBI chr15:128,472,228...128,612,302
Ensembl chr15:128,472,228...128,612,379
JBrowse link
autosomal recessive hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMP1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive ClinVar NCBI chr 8:131,285,238...131,319,398
Ensembl chr 8:131,285,239...131,472,785
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive ClinVar PMID:24033266, PMID:28492532 NCBI chr 1:31,724,290...31,796,594
Ensembl chr 1:31,722,721...31,796,595
JBrowse link
autosomal recessive osteopetrosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CA2 carbonic anhydrase 2 ISO OMIM NCBI chr 4:51,194,686...51,211,436
Ensembl chr 4:51,193,755...51,211,259
JBrowse link
autosomal recessive polycystic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ISO mRNA:increased expression:kidney (rat) RGD PMID:20229187, PMID:20798958 RGD:12879406, RGD:2325220 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,639
JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO protein:increased serine phosphorylation:cholangiocyte RGD PMID:24498161 RGD:10040950
G AQP1 aquaporin 1 (Colton blood group) ISO mRNA, protein:increased expression, altered location:bile duct, epithelial cell
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18988797 RGD:2307071 NCBI chr18:42,063,482...42,076,741 JBrowse link
G C3 complement C3 ISO mRNA, protein:increased expression, increased activity:kidney RGD PMID:17960140 RGD:7175542 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,499...72,528,112
JBrowse link
G CD14 CD14 molecule severity ISO RGD PMID:20555320 RGD:7204130 NCBI chr 2:142,348,036...142,349,686
Ensembl chr 2:142,346,358...142,349,581
JBrowse link
G CDC25A cell division cycle 25A treatment ISO protein:increased expression:cholangiocyte: RGD PMID:22155366 RGD:14700990
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 chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
JBrowse link
G CYS1 cystin 1 ISO RGD PMID:11854326 RGD:7175541 NCBI chr 3:126,398,302...126,411,951 JBrowse link
G DZIP1L DAZ interacting zinc finger protein 1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:28530676 NCBI chr13:78,861,007...78,916,633
Ensembl chr13:78,861,024...78,916,112
JBrowse link
G EGFR epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9486961 NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,478,882
JBrowse link
G ELN elastin ISO RGD PMID:21478483 RGD:7207865 NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,073...11,244,897
JBrowse link
G GPBAR1 G protein-coupled bile acid receptor 1 ISO mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr15:120,336,196...120,339,506
Ensembl chr15:120,336,488...120,339,505
JBrowse link
G IFT88 intraflagellar transport 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8191288, PMID:8608416 NCBI chr11:943,444...1,025,617
Ensembl chr11:943,469...1,022,953
JBrowse link
G LOC100522145 taurochenodeoxycholic 6 alpha-hydroxylase ISO mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 6:128,704,964...128,722,878 JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO protein:increased serine phosphorylation:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:kidney (mouse) RGD PMID:3479800 RGD:7207453 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,119...12,461,078
JBrowse link
G NPHP3 nephrocystin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12089381 NCBI chr13:73,843,770...73,901,020 JBrowse link
G PANX1 pannexin 1 ISO RGD PMID:31630543 RGD:14995937 NCBI chr 9:26,443,425...26,491,010
Ensembl chr 9:26,443,815...26,491,002
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO protein:increased expression:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,277,232
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 3:39,849,579...39,899,455
Ensembl chr 3:39,849,609...39,899,455
JBrowse link
G PKD2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease ClinVar PMID:12707387, PMID:25741868, PMID:28492532, PMID:29529603, PMID:30333007 NCBI chr 8:131,002,973...131,058,932
Ensembl chr 8:131,005,407...131,058,932
JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin severity
susceptibility
ISO DNA:deletion:exon:
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
protein:decreased expression:kidney
DNA:missense mutations:cds:
DNA:splice site mutation:intron:IVS35-2A>T
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutations: :multiple
RGD
ClinVar
CTD
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:32576985 RGD:11062506, RGD:14700917, RGD:1642441, RGD:70439 NCBI chr 7:45,447,354...45,925,141
Ensembl chr 7:45,447,357...45,925,113
JBrowse link
G SLC4A2 solute carrier family 4 member 2 ISO CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression, altered localization:cholangiocyte, basolateral plasma membrane
CTD
RGD
PMID:18988797 RGD:2307071 NCBI chr18:6,149,459...6,166,622
Ensembl chr18:6,149,458...6,165,212
JBrowse link
G SRC SRC proto-oncogene, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18385429 NCBI chr17:40,470,970...40,524,862
Ensembl chr17:40,471,009...40,524,860
JBrowse link
G TMEM67 transmembrane protein 67 ISO RGD PMID:30705305 RGD:14995942 NCBI chr 4:42,878,249...42,931,106
Ensembl chr 4:42,878,254...42,931,121
JBrowse link
autosomal recessive pseudohypoaldosteronism type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LTBR lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive
ClinVar Annotator: match by term: Pseudohypoaldosteronism type 1 autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1
ClinVar PMID:25741868 NCBI chr 5:64,271,372...64,278,422
Ensembl chr 5:64,270,310...64,287,523
JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha ISO OMIM NCBI chr 5:64,287,529...64,312,917
Ensembl chr 5:64,285,015...64,313,612
JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta ISO OMIM NCBI chr 3:22,832,259...22,902,592
Ensembl chr 3:22,832,262...22,902,063
JBrowse link
G SCNN1G sodium channel epithelial 1 subunit gamma ISO OMIM NCBI chr 3:22,977,940...23,013,384
Ensembl chr 3:22,977,947...23,013,384
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive ClinVar NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,073...64,331,909
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 chr 9:64,809,143...64,822,605
Ensembl chr 9:64,809,146...64,822,636
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 chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
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 6:157,424,389...157,432,571
Ensembl chr 6:157,425,878...157,432,577
JBrowse link
G KCNJ1 potassium inwardly rectifying channel subfamily J member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Antenatal Bartter Syndrome
CTD
ClinVar
PMID:10561751, PMID:12911542, PMID:16982955, PMID:22275899, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 9:55,779,020...55,812,761
Ensembl chr 9:55,780,257...55,785,556
JBrowse link
G REN renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:929154, PMID:3519017, PMID:15976003 NCBI chr 9:64,809,143...64,822,605
Ensembl chr 9:64,809,146...64,822,636
JBrowse link
G SLC12A1 solute carrier family 12 member 1 ISO CTD Direct Evidence: marker/mechanism
antenatal Bartter syndrome type 1,OMIM:601678;DNA:point mutation:exon:D648N, V272F
CTD
RGD
PMID:8640224, PMID:10561751 RGD:1624188 NCBI chr 1:123,481,892...123,571,655
Ensembl chr 1:123,481,369...123,571,630
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 chr 1:123,481,892...123,571,655
Ensembl chr 1:123,481,369...123,571,630
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 9:55,779,020...55,812,761
Ensembl chr 9:55,780,257...55,785,556
JBrowse link
Bartter disease type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCNKA chloride channel protein ClC-Ka ISO ClinVar Annotator: match by term: Bartter syndrome type 3 ClinVar PMID:25741868 NCBI chr 6:75,178,914...75,192,670 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 6:157,424,389...157,432,571
Ensembl chr 6:157,425,878...157,432,577
JBrowse link
Bartter disease type 4b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCNKA chloride channel protein ClC-Ka ISO OMIM NCBI chr 6:75,178,914...75,192,670 JBrowse link
Bifid Nose with or without Anorectal And Renal Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FREM1 FRAS1 related extracellular matrix 1 ISO OMIM NCBI chr 1:207,535,811...207,804,525
Ensembl chr 1:207,640,839...207,801,952
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 6:80,586,259...80,589,213
Ensembl chr 6:80,586,280...80,589,939
JBrowse link
G C1QB complement C1q B chain ISO OMIM NCBI chr 6:80,601,680...80,606,076
Ensembl chr 6:80,601,665...80,607,471
JBrowse link
G C1QC complement C1q C chain ISO OMIM NCBI chr 6:80,592,591...80,597,464
Ensembl chr 6:80,592,478...80,597,459
JBrowse link
CAKUT1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSTYK dual serine/threonine and tyrosine protein kinase ISO OMIM NCBI chr 9:65,833,050...65,892,024
Ensembl chr 9:65,833,052...65,891,999
JBrowse link
G SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1, susceptibility to ClinVar PMID:25741868, PMID:26026792 NCBI chr 5:28,300,955...28,605,122
Ensembl chr 5:28,300,950...28,605,120
JBrowse link
G UPK3A uroplakin 3A ISO ClinVar Annotator: match by term: Renal hypodysplasia, nonsyndromic, 1 ClinVar PMID:15888565, PMID:16731295 NCBI chr 5:4,109,985...4,122,272
Ensembl chr 5:4,070,700...4,119,131
JBrowse link
CAKUT2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP4 bone morphogenetic protein 4 ISO DNA:mutations:cds: c.485G> A (p.R162Q), c.1167T> C(human) RGD PMID:21927809 RGD:13446406 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,134...183,792,417
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G TBX18 T-box transcription factor 18 ISO OMIM NCBI chr 1:53,836,939...53,867,460
Ensembl chr 1:53,837,454...53,867,475
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr  X:42,103,251...42,106,289
Ensembl chr  X:42,102,172...42,106,297
JBrowse link
calcium oxalate nephrolithiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMBP alpha-1-microglobulin/bikunin precursor ISO protein:increased expression:urine RGD PMID:15533056, PMID:16622176