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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;   NCI:C3149;   NCI:C34843
For additional species annotation, visit the Alliance of Genome Resources.


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Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1 ATP binding cassette subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24502637 NCBI chrNW_004955432:4,911,774...5,085,349 JBrowse link
G Abcc3 ATP binding cassette subfamily C member 3 severity ISO mRNA:increased expression:kidney RGD PMID:17855625 RGD:2301062 NCBI chrNW_004955451:11,087,246...11,130,108 JBrowse link
G Ackr3 atypical chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22880115 NCBI chrNW_004955453:195,346...218,034 JBrowse link
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:19913069, PMID:31697999 NCBI chrNW_004955425:4,023,001...4,039,980 JBrowse link
G Adra1b adrenoceptor alpha 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18257748 NCBI chrNW_004955408:13,883,574...13,937,798 JBrowse link
G Adrb2 adrenoceptor beta 2 ISO Associated with Escherichia coli infection; RGD PMID:20349426 RGD:7175274 NCBI chrNW_004955415:5,515,157...5,517,198 JBrowse link
G Ager advanced glycosylation end-product specific receptor ISO associated with Obesity RGD PMID:21412218 RGD:7243938 NCBI chrNW_004955437:645,482...648,607 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 chrNW_004955492:7,863,662...7,874,863 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:15042429, PMID:15213268, PMID:16116425, PMID:17668390, PMID:18641512, PMID:20948563, PMID:21179236, PMID:22095942, PMID:22569962, PMID:25741868, PMID:28492532 NCBI chrNW_004955474:8,733,942...8,781,305 JBrowse link
G Alad aminolevulinate dehydratase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23792432, PMID:24631795 NCBI chrNW_004955419:14,093,010...14,104,376 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 chrNW_004955447:9,327...21,212 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 chrNW_004955431:15,071,535...15,097,496 JBrowse link
G Anxa1 annexin A1 ISO CTD Direct Evidence: therapeutic CTD PMID:20484890 NCBI chrNW_004955512:5,686,508...5,703,645 JBrowse link
G Aqp9 aquaporin 9 ISO OMIM NCBI chrNW_004955450:16,253,706...16,346,602 JBrowse link
G Arid1b AT-rich interaction domain 1B ISO RGD PMID:14633620 RGD:1302474 NCBI chrNW_004955439:5,041,111...5,454,692 JBrowse link
G B2m beta-2-microglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2202081, PMID:17303580, PMID:24863737 NCBI chrNW_004955416:11,205,503...11,211,325 JBrowse link
G Bmp7 bone morphogenetic protein 7 ISO protein:decreased expression:kidney RGD PMID:16549155 RGD:2289038 NCBI chrNW_004955445:2,154,057...2,235,594 JBrowse link
G Calb1 calbindin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258088, PMID:21865292 NCBI chrNW_004955417:6,944,300...6,969,341 JBrowse link
G Casp3 caspase 3 ISO RGD PMID:29257007 RGD:13782293 NCBI chrNW_004955403:24,315,712...24,326,271 JBrowse link
G Casp8 caspase 8 ISO RGD PMID:29257007 RGD:13782293 NCBI chrNW_004955403:322,082...348,591 JBrowse link
G Casp9 caspase 9 ISO RGD PMID:29257007 RGD:13782293 NCBI chrNW_004955527:2,613,691...2,630,217 JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO RGD PMID:15882261 RGD:2307176 NCBI chrNW_004955481:10,293,758...10,301,118 JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:12969144 RGD:7248601 NCBI chrNW_004955489:8,465,571...8,477,714 JBrowse link
G Cd46 CD46 molecule ISO protein:increased expression:kidney RGD PMID:17594162 RGD:6483464 NCBI chrNW_004955406:43,002,817...43,034,555 JBrowse link
G Cd59 CD59 molecule (CD59 blood group) ISO CTD Direct Evidence: therapeutic CTD PMID:31618666 NCBI chrNW_004955422:12,500,572...12,528,738 JBrowse link
G Cdh1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31697999 NCBI chrNW_004955484:7,782,409...7,861,082 JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16968891 NCBI chrNW_004955437:6,254,638...6,261,278 JBrowse link
G Clu clusterin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258088, PMID:21593213, PMID:24863737 NCBI chrNW_004955403:50,160,598...50,175,876 JBrowse link
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23027747 NCBI chrNW_004955485:7,399,085...7,546,176 JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Kidney Disease ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004955453:7,261,278...7,351,414 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 chrNW_004955490:7,168,725...7,409,655 JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:19429242 NCBI chrNW_004955451:14,688,181...14,690,126 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 chrNW_004955415:30,507,972...30,512,109 JBrowse link
G Ctf1 cardiotrophin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:23335628 NCBI chrNW_004955493:7,735,996...7,737,559 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 chrNW_004955457:11,028,707...11,034,898 JBrowse link
G Ctsd cathepsin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:15213268 NCBI chrNW_004955422:13,576,315...13,584,267 JBrowse link
G Cygb cytoglobin ISO RGD PMID:14647402 RGD:9685173 NCBI chrNW_004955506:5,766,006...5,775,722 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 chrNW_004955422:15,119,155...15,136,771 JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8604712, PMID:10399635, PMID:15106802 NCBI chrNW_004955465:2,287,906...2,314,945 JBrowse link
G Egf epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21865292 NCBI chrNW_004955496:325,954...401,430 JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:20606417 NCBI chrNW_004955573:203,875...206,078 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 chrNW_004955404:685,170...692,797 JBrowse link
G Fabp4 fatty acid binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30215792 NCBI chrNW_004955444:141,955...146,279 JBrowse link
G Fga fibrinogen alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:8097946, PMID:8639778 NCBI chrNW_004955471:8,806,964...8,814,671 JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8995747 NCBI chrNW_004955428:17,840,554...17,894,779 JBrowse link
G G6pd glucose-6-phosphate dehydrogenase treatment ISO RGD PMID:22549094 RGD:10449175 NCBI chrNW_004955580:1,045,294...1,058,129 JBrowse link
G Gatm glycine amidinotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22061828 NCBI chrNW_004955409:8,068,524...8,084,603 JBrowse link
G Glis2 GLIS family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17618285 NCBI chrNW_004955442:13,097,636...13,113,514 JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868187 NCBI chrNW_004955422:17,914,228...17,916,918 JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 disease_progression ISO associated with Antineutrophil Cytoplasmic Antibody-associated Vasculitis;
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:19349640, PMID:20181666, PMID:20438795, PMID:21888673, PMID:23019274, PMID:23547217, PMID:24863737, PMID:24880025 RGD:7244373 NCBI chrNW_004955408:11,047,679...11,070,492 JBrowse link
G Hnf1a HNF1 homeobox A ISO associated with Hypertension RGD PMID:18443232 RGD:2301829 NCBI chrNW_004955455:10,694,102...10,717,613 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 chrNW_004955451:320,283...371,420 JBrowse link
G Hoxa11 homeobox A11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7596412 NCBI chrNW_004955410:28,875,780...28,879,643 JBrowse link
G Hoxd11 homeobox D11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7596412 NCBI chrNW_004955403:20,541,870...20,556,574 JBrowse link
G Ift122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chrNW_004955429:17,795,757...17,858,609 JBrowse link
G Igf1 insulin like growth factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:8825380 NCBI chrNW_004955405:37,505,830...37,582,152 JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: therapeutic CTD PMID:9370186 NCBI chrNW_004955470:1,145,022...1,159,413 JBrowse link
G Il33 interleukin 33 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21949094 NCBI chrNW_004955434:10,145,449...10,187,595 JBrowse link
G Kl klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:23665422 NCBI chrNW_004955431:12,782,913...12,833,215 JBrowse link
G Ldlr low density lipoprotein receptor ISO RGD PMID:21795641 RGD:7241070 NCBI chrNW_004955495:2,114,702...2,135,584 JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20567778 NCBI chrNW_004955423:25,108,897...25,185,315 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 chrNW_004955450:15,947,869...16,062,449 JBrowse link
G LOC102012042 cytochrome b-245 heavy chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20116427 NCBI chrNW_004955587:781,533...818,149 JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632512 NCBI chrNW_004955449:5,155,109...5,314,886 JBrowse link
G Mapk1 mitogen-activated protein kinase 1 ISO RGD PMID:15213271 RGD:7243971 NCBI chrNW_004955442:17,284,232...17,380,026 JBrowse link
G Mif macrophage migration inhibitory factor ISO associated with Hypercholesterolemia;mRNA:increased expression:glomerulus RGD PMID:9158105 RGD:1641957 NCBI chrNW_004955455:8,367,566...8,368,460 JBrowse link
G Mki67 marker of proliferation Ki-67 ISO RGD PMID:22017545 RGD:6483553 NCBI chrNW_004955477:5,847,288...5,875,970 JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:decreased expression:kidney RGD PMID:17392157 RGD:1642041 NCBI chrNW_004955445:11,295,500...11,303,322 JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19913069 NCBI chrNW_004955451:4,743,744...4,753,358 JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18551038 NCBI chrNW_004955486:2,096,379...2,112,240 JBrowse link
G Mxi1 MAX interactor 1, dimerization protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23316056 NCBI chrNW_004955485:1,088,175...1,156,521 JBrowse link
G Nek8 NIMA related kinase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18199800 NCBI chrNW_004955481:4,417,773...4,427,885 JBrowse link
G Nfe2l2 nuclear factor, erythroid 2 like 2 ISO CTD Direct Evidence: therapeutic CTD PMID:20605904 NCBI chrNW_004955403:19,510,122...19,536,428 JBrowse link
G Nfia nuclear factor I A ISO ClinVar Annotator: match by term: Renal dysplasia ClinVar PMID:30311386 NCBI chrNW_004955423:27,799,976...28,108,307 JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18441258 NCBI chrNW_004955481:5,197,957...5,232,406 JBrowse link
G Npr1 natriuretic peptide receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20881240 NCBI chrNW_004955545:323,386...338,654 JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:21613233 NCBI chrNW_004955484:7,012,373...7,028,182 JBrowse link
G Nr4a1 nuclear receptor subfamily 4 group A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24722447 NCBI chrNW_004955547:2,404,532...2,426,882 JBrowse link
G Parp1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20561897, PMID:21884784 NCBI chrNW_004955489:520,875...557,609 JBrowse link
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Kidney Disease ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chrNW_004955485:9,351,913...9,430,607 JBrowse link
G Pax9 paired box 9 ISO ClinVar Annotator: match by term: Kidney Disease ClinVar PMID:25741868 NCBI chrNW_004955409:24,401,599...24,443,687 JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chrNW_004955512:2,914,834...3,333,440 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 chrNW_004955442:15,132,555...15,178,377 JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Kidney Diseases ClinVar PMID:30311386 NCBI chrNW_004955474:1,831,221...1,868,170 JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6143199 NCBI chrNW_004955469:7,217,233...7,220,401 JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316343 NCBI chrNW_004955413:30,306,563...30,366,245 JBrowse link
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO RGD PMID:27009276 RGD:11537650 NCBI chrNW_004955496:6,934,542...7,059,745 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19643929 NCBI chrNW_004955406:25,077,988...25,086,259 JBrowse link
G Ramp2 receptor activity modifying protein 2 ISO mRNA:increased expression:kidney RGD PMID:10733909 RGD:61729 NCBI chrNW_004955451:16,584,742...16,586,093 JBrowse link
G Rasal1 RAS protein activator like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23665422 NCBI chrNW_004955482:9,447,984...9,471,852 JBrowse link
G Rbp4 retinol binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22061828 NCBI chrNW_004955507:112,342...120,050 JBrowse link
G Relb RELB proto-oncogene, NF-kB subunit ISO protein:increased localization: kidney tubule epithelium, nucleus RGD PMID:22017545 RGD:6483553 NCBI chrNW_004955555:2,060,533...2,086,229 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 chrNW_004955406:40,016,624...40,026,286 JBrowse link
G Rgn regucalcin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18805471 NCBI chrNW_004955516:958,416...978,829 JBrowse link
G Rpgrip1l RPGRIP1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17558407, PMID:17558409 NCBI chrNW_004955433:11,321,504...11,423,981 JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138848 NCBI chrNW_004955417:26,949,686...26,976,976 JBrowse link
G Six2 SIX homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18570229 NCBI chrNW_004955441:12,029,530...12,033,214 JBrowse link
G Slc12a3 solute carrier family 12 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21865292 NCBI chrNW_004955433:14,553,752...14,588,317 JBrowse link
G Slc22a2 solute carrier family 22 member 2 ISO CTD Direct Evidence: therapeutic CTD PMID:22525860 NCBI chrNW_004955439:20,567,241...20,608,281 JBrowse link
G Slc25a21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Kidney Disease ClinVar PMID:25741868 NCBI chrNW_004955409:23,949,794...24,421,944 JBrowse link
G Slc7a9 solute carrier family 7 member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21572414 NCBI chrNW_004955468:5,112,057...5,201,272 JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:26980705 NCBI chrNW_004955414:22,117,929...22,121,744 JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19917352, PMID:21571061 NCBI chrNW_004955439:21,209,101...21,223,538 JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:12660331 NCBI chrNW_004955408:6,100,123...6,122,460 JBrowse link
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27026710 NCBI chrNW_004955474:1,914,477...1,922,025 JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO protein:altered localization:kidney RGD PMID:15944339 RGD:1625196 NCBI chrNW_004955577:171,425...183,669 JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO protein:altered localization:kidney RGD PMID:15944339 RGD:1625196 NCBI chrNW_004955413:27,271,717...27,326,655 JBrowse link
G Sv2b synaptic vesicle glycoprotein 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16943307 NCBI chrNW_004955416:19,456,414...19,650,782 JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16968891 NCBI chrNW_004955504:649,248...669,796 JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19685247 NCBI chrNW_004955465:3,877,896...3,900,259 JBrowse link
G Tff3 trefoil factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24863737 NCBI chrNW_004955407:39,398,534...39,401,085 JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:11682445, PMID:14675041, PMID:18390891 NCBI chrNW_004955555:274,405...288,441 JBrowse link
G Tgfbi transforming growth factor beta induced ISO chronic cyclosporin A-induced nephropathy RGD PMID:16308546 RGD:1599389 NCBI chrNW_004955408:31,093,450...31,124,715 JBrowse link
G Tgfbr1 transforming growth factor beta receptor 1 ISO protein:increased expression:kidney RGD PMID:18198643 RGD:2302020 NCBI chrNW_004955419:26,490,899...26,546,349 JBrowse link
G Tgfbr2 transforming growth factor beta receptor 2 ISO chronic nephrotoxicity;mRNA, protein:increased expression:kidney RGD PMID:16980036 RGD:1601593 NCBI chrNW_004955430:21,919,338...21,999,688 JBrowse link
G Thg1l tRNA-histidine guanylyltransferase 1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:21784897 NCBI chrNW_004955408:11,857,380...11,863,786 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 chrNW_004955417:10,097,488...10,137,959 JBrowse link
G Tnf tumor necrosis factor ISO associated with Arthritis, Rheumatoid RGD PMID:14613268 RGD:10450570 NCBI chrNW_004955437:117,267...119,899 JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO associated with Arthritis, Rheumatoid RGD PMID:14613268 RGD:10450570 NCBI chrNW_004955413:3,982,670...3,996,320 JBrowse link
G Trpc6 transient receptor potential cation channel subfamily C member 6 treatment ISO RGD PMID:23535151 RGD:7247439 NCBI chrNW_004955412:4,905,039...5,019,678 JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258341 NCBI chrNW_004955449:8,242,327...8,306,012 JBrowse link
G Umod uromodulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:8486146, PMID:19430482 NCBI chrNW_004955442:3,986,936...4,001,155 JBrowse link
G Vim vimentin ISO CTD Direct Evidence: marker/mechanism CTD PMID:31697999 NCBI chrNW_004955429:10,708,852...10,716,743 JBrowse link
G Vps33b VPS33B late endosome and lysosome associated ISO ARC syndrome, OMIM:208085 RGD PMID:15052268 RGD:1599749 NCBI chrNW_004955416:15,049,849...15,071,108 JBrowse link
G Wnk1 WNK lysine deficient protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21865292 NCBI chrNW_004955454:6,228,492...6,358,690 JBrowse link
G Wnt4 Wnt family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11832423 NCBI chrNW_004955452:2,319,446...2,344,740 JBrowse link
G Xylt1 xylosyltransferase 1 ISO mRNA:increased expression:kidney RGD PMID:18095597 RGD:2313146 NCBI chrNW_004955442:1,787,338...2,042,523 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 chrNW_004955508:6,232,514...6,246,593 JBrowse link
G Wnt4 Wnt family member 4 ISO OMIM NCBI chrNW_004955452:2,319,446...2,344,740 JBrowse link
acute kidney failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb2 adrenoceptor beta 2 treatment ISO associated with endotoxemia; protein:increased expression:kidney
associated with Endotoxemia;
associated with Bacteremia;
RGD PMID:14747378, PMID:19020966, PMID:19887504 RGD:7175276, RGD:7175281, RGD:7175283 NCBI chrNW_004955415:5,515,157...5,517,198 JBrowse link
G Ager advanced glycosylation end-product specific receptor ISO RGD PMID:21811803 RGD:7243868 NCBI chrNW_004955437:645,482...648,607 JBrowse link
G Ahsg alpha 2-HS glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chrNW_004955420:21,071,111...21,078,397 JBrowse link
G Alad aminolevulinate dehydratase ISO protein:decreased activity:kidney (rat) RGD PMID:19484701 RGD:4144146 NCBI chrNW_004955419:14,093,010...14,104,376 JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:2048579, PMID:21259293, PMID:24361871, PMID:28885000 NCBI chrNW_004955447:9,327...21,212 JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO RGD PMID:19194548 RGD:2317536 NCBI chrNW_004955546:2,495,226...2,550,909 JBrowse link
G Ambp alpha-1-microglobulin/bikunin precursor ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD
PMID:8963945, PMID:28885000 RGD:6904218 NCBI chrNW_004955419:13,478,904...13,492,329 JBrowse link
G Amn amnion associated transmembrane protein ISO CTD Direct Evidence: therapeutic CTD PMID:20514524 NCBI chrNW_004955538:2,017,476...2,021,890 JBrowse link
G Anxa1 annexin A1 treatment ISO RGD PMID:22101490 RGD:7421583 NCBI chrNW_004955512:5,686,508...5,703,645 JBrowse link
G Ar androgen receptor ISO RGD PMID:24503548 RGD:11570523 NCBI chrNW_004955475:7,013,960...7,192,473 JBrowse link
G Arg1 arginase 1 ISO mRNA:decreased expression:renal tubule (rat) RGD PMID:12371970 RGD:631989 NCBI chrNW_004955436:12,235,767...12,247,817 JBrowse link
G Arg2 arginase 2 ISO mRNA:decreased expression:renal tubule (rat) RGD PMID:12371970 RGD:631989 NCBI chrNW_004955466:2,549,557...2,577,060 JBrowse link
G Atp5f1b ATP synthase F1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25666834 NCBI chrNW_004955458:4,188,167...4,195,575 JBrowse link
G Avpr1a arginine vasopressin receptor 1A ISO RGD PMID:17347933 RGD:2300348 NCBI chrNW_004955458:10,245,325...10,253,209 JBrowse link
G B2m beta-2-microglobulin ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:2689182, PMID:19536607, PMID:22005293, PMID:28885000 RGD:6482685 NCBI chrNW_004955416:11,205,503...11,211,325 JBrowse link
G Bad BCL2 associated agonist of cell death treatment ISO RGD PMID:20037173 RGD:10053672 NCBI chrNW_004955422:20,795,585...20,809,039 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 chrNW_004955559:1,695,960...1,700,246 JBrowse link
G Bcl2 BCL2 apoptosis regulator ISO protein:increased expression:kidney RGD PMID:20037173 RGD:10053672 NCBI chrNW_004955402:46,911,125...47,084,214 JBrowse link
G Bcl2l1 BCL2 like 1 ISO protein:increased expression:kidney RGD PMID:20037173 RGD:10053672 NCBI chrNW_004955422:29,254,440...29,307,104 JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24975837 NCBI chrNW_004955438:16,514,300...16,537,160 JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chrNW_004955495:2,796,601...2,824,233 JBrowse link
G Capn1 calpain 1 treatment ISO associated with Rhabdomyolysis; RGD PMID:24158126 RGD:13792553 NCBI chrNW_004955422:20,006,448...20,026,984 JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased secretion:serum (mouse) RGD PMID:19508392 RGD:4889990 NCBI chrNW_004955481:10,293,758...10,301,118 JBrowse link
G Cct7 chaperonin containing TCP1 subunit 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31825490 NCBI chrNW_004955424:12,379,222...12,402,161 JBrowse link
G Cd44 CD44 molecule (Indian blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chrNW_004955422:11,106,061...11,189,951 JBrowse link
G Cdkn1b cyclin dependent kinase inhibitor 1B ISO protein:decreased expression:kidney RGD PMID:16557226 RGD:2293624 NCBI chrNW_004955413:9,615,542...9,620,542 JBrowse link
G Clu clusterin ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:urine
CTD
RGD
PMID:20118187, PMID:20623750, PMID:22005293, PMID:22581811, PMID:23052191, PMID:24361871, PMID:28885000 RGD:7245501 NCBI chrNW_004955403:50,160,598...50,175,876 JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chrNW_004955448:470,063...522,909 JBrowse link
G Csf1 colony stimulating factor 1 ISO RGD PMID:23143303 RGD:7257565 NCBI chrNW_004955435:13,404,236...13,423,059 JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO RGD PMID:23143303 RGD:7257565 NCBI chrNW_004955415:4,434,486...4,462,505 JBrowse link
G Cst3 cystatin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22005293, PMID:28885000 NCBI chrNW_004955415:30,507,972...30,512,109 JBrowse link
G Ddit3 DNA damage inducible transcript 3 ISO Protein:increased expression:renal tubule epithelium RGD PMID:15476864 RGD:1599736 NCBI chrNW_004955458:5,232,979...5,238,513 JBrowse link
G Ece1 endothelin converting enzyme 1 ISO RGD PMID:10073607, PMID:11043448 RGD:7244180, RGD:7244185 NCBI chrNW_004955452:1,653,783...1,704,619 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 chrNW_004955465:2,287,906...2,314,945 JBrowse link
G Egf epidermal growth factor ISO RGD PMID:20482449 RGD:6906908 NCBI chrNW_004955496:325,954...401,430 JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: therapeutic
mRNA:increased expression:kidney
CTD
RGD
PMID:11340354, PMID:14638913 RGD:10395241 NCBI chrNW_004955456:321,222...456,431 JBrowse link
G Egln1 egl-9 family hypoxia inducible factor 1 ISO mRNA, protein:decreased expression:kidney RGD PMID:19349364 RGD:11252083 NCBI chrNW_004955492:7,407,800...7,454,851 JBrowse link
G Egln3 egl-9 family hypoxia inducible factor 3 ISO mRNA, protein:decreased expression:kidney RGD PMID:19349364 RGD:11252083 NCBI chrNW_004955409:26,939,933...26,967,156 JBrowse link
G Epas1 endothelial PAS domain protein 1 treatment ISO RGD PMID:16762988 RGD:10395386 NCBI chrNW_004955441:13,244,626...13,328,220 JBrowse link
G Ephx2 epoxide hydrolase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:26165641 NCBI chrNW_004955403:49,999,563...50,038,800 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 chrNW_004955573:203,875...206,078 JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:renal tubule (rat) RGD PMID:21374789 RGD:8663469 NCBI chrNW_004955425:3,961,671...3,987,513 JBrowse link
G Fga fibrinogen alpha chain ISO mRNA:increased expression:kidney (rat) RGD PMID:15805072 RGD:9685024 NCBI chrNW_004955471:8,806,964...8,814,671 JBrowse link
G Fis1 fission, mitochondrial 1 ISO protein:decreased expression:kidney (rat) RGD PMID:26480480 RGD:12910862 NCBI chrNW_004955456:16,057,158...16,060,623 JBrowse link
G Fn1 fibronectin 1 ISO protein:increased expression:kidney RGD PMID:11768240, PMID:12884040 RGD:7205684, RGD:729934 NCBI chrNW_004955457:629,599...694,948 JBrowse link
G Fstl1 follistatin like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20861081 NCBI chrNW_004955427:19,952,823...20,003,832 JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:602954, PMID:734759, PMID:4794122 NCBI chrNW_004955580:1,045,294...1,058,129 JBrowse link
G Gas6 growth arrest specific 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19564549 NCBI chrNW_004955404:276,397...303,864 JBrowse link
G Gatm glycine amidinotransferase ISO protein:decreased activity:kidney (rat) RGD PMID:2752493 RGD:1599823 NCBI chrNW_004955409:8,068,524...8,084,603 JBrowse link
G Gc GC vitamin D binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chrNW_004955447:1,361,698...1,400,633 JBrowse link
G Gfer growth factor, augmenter of liver regeneration treatment ISO protein:increased expression:cortex of kidney,renal medulla:
CTD Direct Evidence: therapeutic
RGD
CTD
PMID:20030531 RGD:9685736 NCBI chrNW_004955442:15,280,753...15,283,405 JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO RGD PMID:19625378 RGD:7242430 NCBI chrNW_004955561:1,676,475...1,682,205 JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO protein:decreased activity:kidney (rat) RGD PMID:23924727 RGD:13506245 NCBI chrNW_004955433:16,121,795...16,145,129 JBrowse link
G Gpnmb glycoprotein nmb ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chrNW_004955410:25,554,279...25,583,368 JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:22785175 NCBI chrNW_004955427:19,489,972...19,671,137 JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:decreased activity:kidney:
glycerol-induced
RGD PMID:1870354, PMID:22286819 RGD:7257559, RGD:7257585 NCBI chrNW_004955463:7,130,459...7,153,631 JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:20623750, PMID:20798258 RGD:6903954 NCBI chrNW_004955422:17,914,228...17,916,918 JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO protein:increased expression:urine
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 chrNW_004955408:11,047,679...11,070,492 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 chrNW_004955418:259,860...321,340 JBrowse link
G Hdac2 histone deacetylase 2 treatment ISO associated with sepsis; RGD PMID:22933299 RGD:9590257 NCBI chrNW_004955526:2,739,099...2,759,640 JBrowse link
G Hdac3 histone deacetylase 3 ISO RGD PMID:21416250 RGD:10047111 NCBI chrNW_004955415:12,138,520...12,154,234 JBrowse link
G Hdac5 histone deacetylase 5 treatment ISO associated with sepsis; RGD PMID:21416250, PMID:22933299 RGD:10047111, RGD:9590257 NCBI chrNW_004955451:17,223,217...17,246,451 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 chrNW_004955420:14,565,921...14,568,447 JBrowse link
G Hexb hexosaminidase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:22005293 NCBI chrNW_004955425:25,942,341...25,961,312 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 chrNW_004955466:8,000,311...8,022,497 JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO associated with Sepsis RGD PMID:16557230 RGD:5508471 NCBI chrNW_004955425:25,362,165...25,380,611 JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO CTD Direct Evidence: therapeutic
associated with Sepsis
CTD
RGD
PMID:21048024, PMID:23807243 RGD:10755583 NCBI chrNW_004955405:43,124,447...43,128,873 JBrowse link
G Hpx hemopexin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chrNW_004955414:22,158,654...22,169,133 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 chrNW_004955412:23,863,513...23,867,984 JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment ISO RGD PMID:22659586 RGD:7175102 NCBI chrNW_004955495:1,561,464...1,573,282 JBrowse link
G Igf1 insulin like growth factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:7540432 NCBI chrNW_004955405:37,505,830...37,582,152 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 chrNW_004955416:26,101,090...26,382,660 JBrowse link
G Igfbp1 insulin like growth factor binding protein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:7540432 NCBI chrNW_004955456:6,810,461...6,814,944 JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18460982 NCBI chrNW_004955406:42,307,789...42,312,255 JBrowse link
G Il18 interleukin 18 ISO RGD PMID:11342578 RGD:6893450 NCBI chrNW_004955412:13,807,361...13,826,007 JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:21716595 RGD:6907069 NCBI chrNW_004955470:1,527,710...1,538,418 JBrowse link
G Il1b interleukin 1 beta ISO mRNA:increased expression:kidney, liver, spleen (mouse)
protein:increased expression:kidney (rat)
RGD PMID:21677145, PMID:22286667, PMID:22659586, PMID:22750969 RGD:7175094, RGD:7175102, RGD:7175258, RGD:7175314 NCBI chrNW_004955470:1,486,936...1,491,888 JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO associated with Sepsis
associated with Asphyxia; rat model treated with human protein
RGD PMID:14610321, PMID:16259926, PMID:16763508 RGD:6907360, RGD:6907369, RGD:6907375 NCBI chrNW_004955470:1,145,022...1,159,413 JBrowse link
G Il20 interleukin 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18496552 NCBI chrNW_004955406:42,398,510...42,401,561 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 chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Ins insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12243603 NCBI chrNW_004955422:13,909,408...13,910,419 JBrowse link
G Klk1 kallikrein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18227104 NCBI chrNW_004955559:457,030...461,086 JBrowse link
G Kng1 kininogen 1 ISO CTD Direct Evidence: therapeutic CTD PMID:513486, PMID:3015452 NCBI chrNW_004955420:20,989,197...21,016,084 JBrowse link
G Lgals3 galectin 3 ISO mRNA:increased expression:kidney RGD PMID:10980121 RGD:9685228 NCBI chrNW_004955409:8,448,120...8,452,437 JBrowse link
G LOC102010322 cytochrome P450 1A2 treatment ISO RGD PMID:18495746, PMID:23981375 RGD:7257727, RGD:7257735 NCBI chrNW_004955450:3,165,107...3,171,894 JBrowse link
G LOC102010850 cytochrome P450 1A1 treatment ISO RGD PMID:18495746, PMID:19890363 RGD:7257732, RGD:7257735 NCBI chrNW_004955450:3,183,958...3,189,488 JBrowse link
G LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial ISO RGD PMID:6223803 RGD:2307326 NCBI chrNW_004955458:5,472,404...5,477,001 JBrowse link
G LOC102021597 alpha-1-antiproteinase S-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chrNW_004955438:17,920,200...17,929,105 JBrowse link
G LOC102021956 alpha-2-macroglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chrNW_004955413:6,019,457...6,062,366 JBrowse link
G LOC102026028 cytochrome P450 2E1 treatment ISO RGD PMID:24412858, PMID:24717297 RGD:14700914, RGD:14700920 NCBI chrNW_004955507:6,293,162...6,303,255 JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29286200 NCBI chrNW_004955449:5,155,109...5,314,886 JBrowse link
G Mb myoglobin ISO protein: increased expression: serum RGD PMID:9822635, PMID:23497406 RGD:7244253, RGD:7244259 NCBI chrNW_004955405:43,215,404...43,221,606 JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO protein:increased expression:renal parenchyma (rat) RGD PMID:17940345 RGD:2317469 NCBI chrNW_004955432:22,440,671...22,519,592 JBrowse link
G Mfn1 mitofusin 1 ISO protein:decreased expression:kidney (rat) RGD PMID:26480480 RGD:12910862 NCBI chrNW_004955420:8,541,547...8,596,494 JBrowse link
G Mpo myeloperoxidase ISO DNA:haplotye: :
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:19793022, PMID:20623750, PMID:22739978 RGD:6909168, RGD:6909185 NCBI chrNW_004955451:4,743,744...4,753,358 JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17387702 NCBI chrNW_004955486:2,096,379...2,112,240 JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:23022334 RGD:7245507 NCBI chrNW_004955486:2,487,642...2,599,694 JBrowse link
G Muc20 mucin 20, cell surface associated ISO RGD PMID:14565953 RGD:7364790 NCBI chrNW_004955420:12,212,666...12,234,213 JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor susceptibility ISO protein:decreased phosphorylation:kidney (mouse) RGD PMID:23228991 RGD:7207407 NCBI chrNW_004955461:2,714,022...2,718,872 JBrowse link
G Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 ISO RGD PMID:22160772 RGD:13801199 NCBI chrNW_004955485:9,607,781...9,613,123 JBrowse link
G Nes nestin ISO RGD PMID:24503548 RGD:11570523 NCBI chrNW_004955545:2,748,132...2,756,595 JBrowse link
G Nfe2l2 nuclear factor, erythroid 2 like 2 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:24291173, PMID:24958931 RGD:10412697 NCBI chrNW_004955403:19,510,122...19,536,428 JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29286200 NCBI chrNW_004955496:5,842,734...5,950,995 JBrowse link
G Nos1 nitric oxide synthase 1 ISO RGD PMID:14531809 RGD:13825139 NCBI chrNW_004955455:13,797,557...13,978,402 JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9810145 NCBI chrNW_004955481:5,197,957...5,232,406 JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism
in females;mRNA:increased expression:cortex of kidney (rat)
CTD
RGD
PMID:9788586, PMID:28947737 RGD:13450947 NCBI chrNW_004955491:5,438,228...5,457,308 JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism|therapeutic
mRNA:increased expression:kidney
CTD
RGD
PMID:1825077, PMID:2948068, PMID:19298916, PMID:22209992 RGD:7247715 NCBI chrNW_004955486:2,061,196...2,062,805 JBrowse link
G Nppb natriuretic peptide B ISO associated with lung diseases;protein:increased expression:serum:
associated with Myocardial Infarction;protein:increased expression:serum:
associated with Pneumonia;protein:increased expression:serum:
mRNA:increased expression:kidney
RGD PMID:22209992, PMID:23192919, PMID:23415693, PMID:23837838 RGD:7247620, RGD:7247622, RGD:7247624, RGD:7247715 NCBI chrNW_004955486:2,054,775...2,056,130 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 chrNW_004955484:7,012,373...7,028,182 JBrowse link
G Ocln occludin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19766176 NCBI chrNW_004955575:163,646...210,379 JBrowse link
G Orm1 orosomucoid 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chrNW_004955419:13,262,119...13,264,986 JBrowse link
G Parp1 poly(ADP-ribose) polymerase 1 ISO RGD PMID:21884784 RGD:5510015 NCBI chrNW_004955489:520,875...557,609 JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel ISO protein:altered localization RGD PMID:12089381 RGD:7175293 NCBI chrNW_004955474:1,831,221...1,868,170 JBrowse link
G Plat plasminogen activator, tissue type ISO protein:increased expression:plasma (human) RGD PMID:9767551 RGD:11541071 NCBI chrNW_004955536:730,962...754,333 JBrowse link
G Plg plasminogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chrNW_004955439:20,317,814...20,366,724 JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:17216604 NCBI chrNW_004955469:7,217,233...7,220,401 JBrowse link
G Pparg peroxisome proliferator activated receptor gamma treatment ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD
PMID:17494862, PMID:20623750, PMID:24011919, PMID:24433871 RGD:8553020 NCBI chrNW_004955429:14,814,690...14,936,869 JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO associated with Endotoxemia RGD PMID:21881206 RGD:7242026 NCBI chrNW_004955480:543,397...1,188,376 JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa treatment ISO RGD PMID:19092124 RGD:11250410 NCBI chrNW_004955459:3,097,229...3,105,566 JBrowse link
G Procr protein C receptor treatment ISO associated with Sepsis RGD PMID:23807243 RGD:10755583 NCBI chrNW_004955422:26,215,757...26,220,396 JBrowse link
G Ptafr platelet activating factor receptor treatment ISO associated with Endotoxemia RGD PMID:2538527 RGD:10043182 NCBI chrNW_004955452:7,309,854...7,345,579 JBrowse link
G Ptger4 prostaglandin E receptor 4 treatment ISO RGD PMID:16871242 RGD:10003092 NCBI chrNW_004955426:24,997,811...25,010,822 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:21893983 RGD:5508181 NCBI chrNW_004955406:25,077,988...25,086,259 JBrowse link
G Rapgef3 Rap guanine nucleotide exchange factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21745194 NCBI chrNW_004955500:6,655,056...6,674,311 JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO associated with Sepsis;protein:increased phosphorylation:kidney RGD PMID:19428114 RGD:8547990 NCBI chrNW_004955431:1,960,765...2,124,576 JBrowse link
G Scgb1a1 secretoglobin family 1A member 1 ISO associated with LPS induced endotoxemia RGD PMID:18824919 RGD:2313129 NCBI chrNW_004955599:688,414...690,644 JBrowse link
G Serpinc1 serpin family C member 1 ISO associated with heart failure; protein:decreased activity:plasma: RGD PMID:26108065 RGD:11354006 NCBI chrNW_004955406:14,024,183...14,036,206 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 chrNW_004955425:20,280,725...20,307,663 JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20623750 NCBI chrNW_004955453:14,980,562...14,995,118 JBrowse link
G Slc22a12 solute carrier family 22 member 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14655203 NCBI chrNW_004955422:20,555,458...20,561,818 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 chrNW_004955439:20,567,241...20,608,281 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 chrNW_004955408:29,626,775...29,640,811 JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chrNW_004955407:31,261,451...31,267,657 JBrowse link
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11274264, PMID:20623750, PMID:22863853 RGD:6903264 NCBI chrNW_004955474:1,914,477...1,922,025 JBrowse link
G Tff3 trefoil factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chrNW_004955407:39,398,534...39,401,085 JBrowse link
G Tgfa transforming growth factor alpha ISO mRNA:increased expression:kidney RGD PMID:11340354 RGD:10395241 NCBI chrNW_004955424:14,616,390...14,709,723 JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10469268 NCBI chrNW_004955555:274,405...288,441 JBrowse link
G Thbd thrombomodulin treatment ISO RGD PMID:17804460, PMID:19176699 RGD:5684994, RGD:5685010 NCBI chrNW_004955415:30,222,830...30,226,406 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 chrNW_004955471:8,011,710...8,019,063 JBrowse link
G Tlr4 toll like receptor 4 treatment ISO CTD Direct Evidence: marker/mechanism
associated with Sepsis
CTD
RGD
PMID:16638912, PMID:22266601, PMID:22655058, PMID:29286200 RGD:6892690, RGD:7207898, RGD:7241084 NCBI chrNW_004955419:10,190,937...10,201,896 JBrowse link
G Tlr9 toll like receptor 9 ISO associated with Sepsis RGD PMID:23548820 RGD:7245966 NCBI chrNW_004955532:3,828,645...3,832,699 JBrowse link
G Tnf tumor necrosis factor susceptibility ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:16595132, PMID:18460982, PMID:20623750, PMID:21150875 RGD:7245548 NCBI chrNW_004955437:117,267...119,899 JBrowse link
G Tnfrsf12a TNF receptor superfamily member 12A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chrNW_004955442:14,320,159...14,322,146 JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A susceptibility ISO associated with Endotoxemia
associated with Acute Lung Injury
associated with Shock, Septic;protein:increased expression:serum
RGD PMID:12023385, PMID:12500222, PMID:18074478, PMID:21150875 RGD:5128661, RGD:7245534, RGD:7245535, RGD:7245548 NCBI chrNW_004955413:3,982,670...3,996,320 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 chrNW_004955486:1,790,531...1,817,986 JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20603111 NCBI chrNW_004955467:9,241,391...9,256,716 JBrowse link
G Ttr transthyretin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chrNW_004955402:18,921,235...18,927,976 JBrowse link
G Uts2r urotensin 2 receptor ISO RGD PMID:15146030 RGD:2306847 NCBI chrNW_004955506:756,859...761,891 JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:20943766, PMID:22808199 NCBI chrNW_004955437:9,527,445...9,541,908 JBrowse link
G Wnt4 Wnt family member 4 ISO RGD PMID:12707392 RGD:727218 NCBI chrNW_004955452:2,319,446...2,344,740 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 chrNW_004955423:25,395,086...25,402,324 JBrowse link
G Bmp7 bone morphogenetic protein 7 ISO associated with Kidney Reperfusion Injury;protein:increased expression:kidney RGD PMID:16284088 RGD:1601494 NCBI chrNW_004955445:2,154,057...2,235,594 JBrowse link
G Cct7 chaperonin containing TCP1 subunit 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31825490 NCBI chrNW_004955424:12,379,222...12,402,161 JBrowse link
G Ciita class II major histocompatibility complex transactivator ISO mRNA:increased expression:kidney RGD PMID:9422398 RGD:7242901 NCBI chrNW_004955442:7,600,903...7,647,619 JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:decreased activity:renal cortex: RGD PMID:12885594, PMID:17078987 RGD:7257555, RGD:7257573 NCBI chrNW_004955463:7,130,459...7,153,631 JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO protein:increased expression:kidney tubule, urine: RGD PMID:12081583 RGD:7245970 NCBI chrNW_004955408:11,047,679...11,070,492 JBrowse link
G Nog noggin ISO associated with Kidney Reperfusion Injury RGD PMID:16284088 RGD:1601494 NCBI chrNW_004955451:6,192,368...6,193,766 JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:4358912, PMID:6254450 NCBI chrNW_004955469:7,217,233...7,220,401 JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19834340 NCBI chrNW_004955413:30,306,563...30,366,245 JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:19917352 NCBI chrNW_004955439:21,209,101...21,223,538 JBrowse link
G Tek TEK receptor tyrosine kinase ISO associated with Kidney Reperfusion Injury RGD PMID:16284088 RGD:1601494 NCBI chrNW_004955472:7,633,790...7,748,130 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 chrNW_004955412:18,170,331...18,172,298 JBrowse link
G Tlr2 toll like receptor 2 ISO RGD PMID:22194975 RGD:7207900 NCBI chrNW_004955471:8,011,710...8,019,063 JBrowse link
G Tlr4 toll like receptor 4 ISO RGD PMID:22194975 RGD:7207900 NCBI chrNW_004955419:10,190,937...10,201,896 JBrowse link
AIDS-Associated Nephropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtr2 angiotensin II receptor type 2 ISO RGD PMID:2 RGD:1303381 NCBI chrNW_004955534:3,653,112...3,654,248 JBrowse link
G Egf epidermal growth factor ISO RGD PMID:19357719 RGD:6906909 NCBI chrNW_004955496:325,954...401,430 JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:23678040 RGD:7245474 NCBI chrNW_004955486:2,487,642...2,599,694 JBrowse link
G Myh9 myosin heavy chain 9 ISO protein:decreased expression:glomerulus RGD PMID:22313957 RGD:6903274 NCBI chrNW_004955413:22,881,759...22,972,182 JBrowse link
G Notch4 notch receptor 4 ISO protein: increased expression: kidney RGD PMID:20706108 RGD:6480788 NCBI chrNW_004955437:658,076...679,338 JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin treatment ISO RGD PMID:17229913, PMID:19188342 RGD:38596324, RGD:38599164 NCBI chrNW_004955468:2,715,728...2,734,174 JBrowse link
Albuminuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adm adrenomedullin ISO associated with Hypertension RGD PMID:19424162 RGD:2313311 NCBI chrNW_004955414:25,951,473...25,953,593 JBrowse link
G Ager advanced glycosylation end-product specific receptor treatment ISO associated with Diabetes Mellitus, Experimental
associated with Diabetes Mellitus, Type 2; protein:increased expression:serum (human)
associated with Diabetic Nephropathies
RGD PMID:20627935, PMID:21607631, PMID:21796806 RGD:7243944, RGD:7244135, RGD:7244184 NCBI chrNW_004955437:645,482...648,607 JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:12414515, PMID:18679781, PMID:21896938 NCBI chrNW_004955492:7,863,662...7,874,863 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 chrNW_004955447:9,327...21,212 JBrowse link
G B2m beta-2-microglobulin ISO associated with HIV infections;protein:increased expression:urine RGD PMID:18469311 RGD:6482713 NCBI chrNW_004955416:11,205,503...11,211,325 JBrowse link
G Casr calcium sensing receptor ISO associated with Uremia RGD PMID:19188910 RGD:7205661 NCBI chrNW_004955427:21,486,608...21,574,017 JBrowse link
G Cd38 CD38 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21992601 NCBI chrNW_004955480:8,177,178...8,218,483 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 chrNW_004955442:7,600,903...7,647,619 JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21752484 NCBI chrNW_004955448:470,063...522,909 JBrowse link
G Csf1 colony stimulating factor 1 treatment ISO associated with Hypercholesterolemia and Diabetes Mellitus, Experimental RGD PMID:8573750 RGD:7257591 NCBI chrNW_004955435:13,404,236...13,423,059 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 chrNW_004955415:30,507,972...30,512,109 JBrowse link
G Ctsb cathepsin B ISO associated with Hypertension RGD PMID:19023196 RGD:2315726 NCBI chrNW_004955403:53,086,236...53,100,217 JBrowse link
G Drd1 dopamine receptor D1 ISO DNA:polymorphism:5' utr:g.-94G>A rs5326 (human) RGD PMID:17353515 RGD:7248452 NCBI chrNW_004955408:28,003,229...28,006,595 JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:renal papilla (rat) RGD PMID:20666571 RGD:4144838 NCBI chrNW_004955465:2,287,906...2,314,945 JBrowse link
G Epo erythropoietin ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:urine,serum RGD PMID:16921186 RGD:2313841 NCBI chrNW_004955573:203,875...206,078 JBrowse link
G F7 coagulation factor VII no_association
severity
ISO associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human)
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human)
RGD PMID:8250495, PMID:8458188, PMID:9187410 RGD:2312406, RGD:2312407, RGD:2312410 NCBI chrNW_004955404:685,170...692,797 JBrowse link
G Fbn1 fibrillin 1 ISO associated with Hypertension RGD PMID:16380460 RGD:7365080 NCBI chrNW_004955409:5,281,603...5,502,547 JBrowse link
G Ggt1 gamma-glutamyltransferase 1 ISO associated with Diabetes Mellitus; protein:increased activity:serum RGD PMID:15890893 RGD:2315606 NCBI chrNW_004955455:8,082,578...8,099,523 JBrowse link
G Gnaq G protein subunit alpha q ISO CTD Direct Evidence: marker/mechanism CTD PMID:16267159 NCBI chrNW_004955512:1,381,159...1,658,409 JBrowse link
G Gpc5 glypican 5 ISO CTD Direct Evidence: therapeutic CTD PMID:21441931 NCBI chrNW_004955404:16,824,366...18,091,464 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 chrNW_004955408:11,047,679...11,070,492 JBrowse link
G Igf1 insulin like growth factor 1 susceptibility ISO RGD PMID:16645019 RGD:1598420 NCBI chrNW_004955405:37,505,830...37,582,152 JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:23103566 RGD:7175089 NCBI chrNW_004955470:1,486,936...1,491,888 JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17167242 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Ins insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:9861226, PMID:29420703 NCBI chrNW_004955422:13,909,408...13,910,419 JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17065336, PMID:20175764, PMID:23159718, PMID:29988851 NCBI chrNW_004955423:25,108,897...25,185,315 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 chrNW_004955450:15,947,869...16,062,449 JBrowse link
G Lrp2 LDL receptor related protein 2 ISO RGD PMID:12121845 RGD:1641839 NCBI chrNW_004955449:5,155,109...5,314,886 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 chrNW_004955445:11,295,500...11,303,322 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 chrNW_004955486:2,096,379...2,112,240 JBrowse link
G Myh9 myosin heavy chain 9 ISO associated with hypertension;DNA:SNPs: : RGD PMID:19153477 RGD:6903241 NCBI chrNW_004955413:22,881,759...22,972,182 JBrowse link
G Nck1 NCK adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chrNW_004955501:1,867,956...1,963,091 JBrowse link
G Nck2 NCK adaptor protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chrNW_004955470:10,487,962...10,593,046 JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15684566 NCBI chrNW_004955406:18,862,054...18,885,214 JBrowse link
G Pdpn podoplanin ISO RGD PMID:18199599 RGD:2292240 NCBI chrNW_004955527:4,183,639...4,215,200 JBrowse link
G Pon1 paraoxonase 1 ISO DNA:polymorphisms:promoter, cds (human) RGD PMID:16949520 RGD:2313272 NCBI chrNW_004955432:11,893,473...11,923,035 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 chrNW_004955480:543,397...1,188,376 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17890881 NCBI chrNW_004955406:25,077,988...25,086,259 JBrowse link
G Pth parathyroid hormone ISO associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human) RGD PMID:23066118 RGD:7242730 NCBI chrNW_004955414:28,828,389...28,831,417 JBrowse link
G Rab38 RAB38, member RAS oncogene family ISO RGD PMID:15758045 RGD:1357409 NCBI chrNW_004955414:5,158,860...5,214,108 JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12414515, PMID:18679781 NCBI chrNW_004955406:40,016,624...40,026,286 JBrowse link
G Retn resistin ISO associated with Hypertension;protein:increased expression:blood RGD PMID:20203628 RGD:7207150 NCBI chrNW_004955563:1,607,814...1,609,273 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 chrNW_004955456:16,147,523...16,157,040 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 chrNW_004955481:1,414,930...1,426,436 JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO RGD PMID:25776069 RGD:13442483 NCBI chrNW_004955482:8,079,905...8,100,791 JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17942768 NCBI chrNW_004955439:21,209,101...21,223,538 JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:18443355 RGD:6903862 NCBI chrNW_004955474:1,914,477...1,922,025 JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17167242 NCBI chrNW_004955437:117,267...119,899 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 chrNW_004955428:18,628,951...18,678,525 JBrowse link
G Trpc5 transient receptor potential cation channel subfamily C member 5 ISO RGD PMID:24231357 RGD:10043830 NCBI chrNW_004955490:3,777,756...4,057,275 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 chrNW_004955412:4,905,039...5,019,678 JBrowse link
G Tslp thymic stromal lymphopoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17686814 NCBI chrNW_004955418:4,041,529...4,045,534 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 chrNW_004955435:5,390,745...5,410,025 JBrowse link
Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a3 collagen type IV alpha 3 chain susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alport syndrome
ClinVar Annotator: match by term: Alport syndrome, autosomal dominant
DNA:deletion, nonsense mutations
CTD
ClinVar
RGD
PMID:7987301, PMID:11134255, PMID:12028435, PMID:12631109, PMID:14582039, PMID:14871398, PMID:15880327, PMID:15954103, PMID:17216251, PMID:18385178, PMID:19525337, PMID:20847057, PMID:21862460, PMID:22887978, PMID:23967202, PMID:24033266, PMID:24052634, PMID:24854265, PMID:25229338, PMID:25307543, PMID:25407002, PMID:25514610, PMID:25596306, PMID:25741868, PMID:25888712, PMID:26346198, PMID:26467025, PMID:26795916, PMID:26809805, PMID:26934356, PMID:27391953, PMID:27627812, PMID:27859054, PMID:28492532, PMID:28632965 RGD:1600924 NCBI chrNW_004955453:7,261,278...7,351,414 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 chrNW_004955453:7,405,167...7,524,038 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 chrNW_004955490:7,168,725...7,409,655 JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:22937108 RGD:7175090 NCBI chrNW_004955470:1,486,936...1,491,888 JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO RGD PMID:16816359 RGD:7241212 NCBI chrNW_004955412:6,045,146...6,057,112 JBrowse link
G Myh9 myosin heavy chain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10973259 NCBI chrNW_004955413:22,881,759...22,972,182 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 chrNW_004955478:4,182,568...4,236,819 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 chrNW_004955478:4,241,283...4,262,119 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 chrNW_004955490:7,409,687...7,764,300 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 chrNW_004955492:7,863,662...7,874,863 JBrowse link
G Agtr1 angiotensin II receptor type 1 ISO protein:increased expression:kidney RGD PMID:21282555 RGD:5129185 NCBI chrNW_004955474:8,733,942...8,781,305 JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO mRNA, protein:increased expression:kidney RGD PMID:12234300 RGD:1579984 NCBI chrNW_004955559:1,695,960...1,700,246 JBrowse link
G Bcl2 BCL2 apoptosis regulator ISO mRNA, protein:decreased expression:kidney RGD PMID:12234300 RGD:1579984 NCBI chrNW_004955402:46,911,125...47,084,214 JBrowse link
G Ccl17 C-C motif chemokine ligand 17 ISO mRNA:increased expression:glomerulus RGD PMID:20071465 RGD:4145614 NCBI chrNW_004955433:15,052,616...15,054,732 JBrowse link
G Ccl22 C-C motif chemokine ligand 22 ISO mRNA, protein:increased expression:glomerulus RGD PMID:12651599 RGD:2306306 NCBI chrNW_004955433:15,002,001...15,007,324 JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:glomerulus RGD PMID:17898087 RGD:2307059 NCBI chrNW_004955481:10,293,758...10,301,118 JBrowse link
G Cd274 CD274 molecule treatment ISO RGD PMID:21965585 RGD:7248671 NCBI chrNW_004955434:9,487,309...9,508,366 JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:15210767 RGD:7248442 NCBI chrNW_004955445:11,191,817...11,202,156 JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:15458437 RGD:5508170 NCBI chrNW_004955489:8,465,571...8,477,714 JBrowse link
G Cd80 CD80 molecule ISO RGD PMID:10712436 RGD:6902936 NCBI chrNW_004955427:19,237,251...19,274,001 JBrowse link
G Cfb complement factor B ISO RGD PMID:22492944 RGD:7242700 NCBI chrNW_004955437:461,235...466,908 JBrowse link
G Clu clusterin ISO protein:increased expression:urine RGD PMID:23791361 RGD:9068422 NCBI chrNW_004955403:50,160,598...50,175,876 JBrowse link
G Csf1 colony stimulating factor 1 treatment ISO RGD PMID:19242505 RGD:7257569 NCBI chrNW_004955435:13,404,236...13,423,059 JBrowse link
G Csf1r colony stimulating factor 1 receptor treatment ISO RGD PMID:19242505 RGD:7257569 NCBI chrNW_004955415:4,434,486...4,462,505 JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 treatment ISO RGD PMID:8206086, PMID:10712436 RGD:11352257, RGD:6902936 NCBI chrNW_004955457:11,028,707...11,034,898 JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO mRNA, protein:increased expression:glomerulus RGD PMID:19590241 RGD:4891946 NCBI chrNW_004955433:15,023,272...15,034,650 JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO mRNA, protein:increased expression:glomerulus RGD PMID:19590241 RGD:4891946 NCBI chrNW_004955427:24,691,206...24,705,599 JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 ISO mRNA:increased expression:glomerulus RGD PMID:17557270 RGD:2306579 NCBI chrNW_004955546:1,929,269...1,941,690 JBrowse link
G Dusp1 dual specificity phosphatase 1 ISO mRNA:increased expression:glomerulus RGD PMID:8587253 RGD:633769 NCBI chrNW_004955408:25,481,294...25,484,381 JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:23826305 RGD:7365004 NCBI chrNW_004955406:42,307,789...42,312,255 JBrowse link
G Il17a interleukin 17A treatment ISO RGD PMID:23826305 RGD:7365004 NCBI chrNW_004955411:5,896,435...5,899,911 JBrowse link
G Il18 interleukin 18 ISO RGD PMID:22046355 RGD:6893447 NCBI chrNW_004955412:13,807,361...13,826,007 JBrowse link
G Il1b interleukin 1 beta ISO mRNA, protein:increased expression:kidney
mRNA:increased expression:kidney (mouse)
RGD PMID:9198037, PMID:22046355 RGD:6893447, RGD:7401232 NCBI chrNW_004955470:1,486,936...1,491,888 JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO RGD PMID:20071465 RGD:4145614 NCBI chrNW_004955470:1,145,022...1,159,413 JBrowse link
G Il4 interleukin 4 ISO RGD PMID:9350645, PMID:17898087 RGD:2307059, RGD:2317673 NCBI chrNW_004955408:4,058,052...4,065,999 JBrowse link
G Itga4 integrin subunit alpha 4 treatment ISO RGD PMID:7679412, PMID:9032136 RGD:2308810, RGD:9698425 NCBI chrNW_004955403:15,726,296...15,807,055 JBrowse link
G LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain ISO RGD PMID:21569485 RGD:5147561 NCBI chrNW_004955437:1,655,092...1,666,552 JBrowse link
G Mapk14 mitogen-activated protein kinase 14 ISO RGD PMID:21894146 RGD:6218988 NCBI chrNW_004955437:3,836,331...3,884,083 JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:21894146 RGD:6218988 NCBI chrNW_004955556:1,593,552...1,705,543 JBrowse link
G Mif macrophage migration inhibitory factor ISO RGD PMID:10780884 RGD:1642011 NCBI chrNW_004955455:8,367,566...8,368,460 JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO RGD PMID:21894146 RGD:6218988 NCBI chrNW_004955412:6,045,146...6,057,112 JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO mRNA:increased expression:kidney, macrophage RGD PMID:10878552 RGD:2314954 NCBI chrNW_004955409:37,438,924...37,448,704 JBrowse link
G Nos2 nitric oxide synthase 2 ISO RGD PMID:21894146 RGD:6218988 NCBI chrNW_004955481:5,197,957...5,232,406 JBrowse link
G Nppb natriuretic peptide B ISO RGD PMID:11729234 RGD:7248605 NCBI chrNW_004955486:2,054,775...2,056,130 JBrowse link
G Pdcd1 programmed cell death 1 treatment ISO RGD PMID:21965585 RGD:7248671 NCBI chrNW_004955542:49,290...57,747 JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO RGD PMID:17888025 RGD:5563035 NCBI chrNW_004955413:30,306,563...30,366,245 JBrowse link
G Ptk2b protein tyrosine kinase 2 beta ISO protein:increased expression:glomerulus RGD PMID:11774117 RGD:729912 NCBI chrNW_004955403:49,856,056...49,970,800 JBrowse link
G Rapgef1 Rap guanine nucleotide exchange factor 1 ISO protein:increased expression:renal glomerulus RGD PMID:18784646 RGD:11534983 NCBI chrNW_004955513:1,224,418...1,328,176 JBrowse link
G Selp selectin P ISO RGD PMID:21894146 RGD:6218988 NCBI chrNW_004955462:7,658,371...7,692,870 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 chrNW_004955408:29,626,775...29,640,811 JBrowse link
G Slit2 slit guidance ligand 2 ISO mRNA:decreased expression:kidney, glomerulus RGD PMID:15215188 RGD:2316132 NCBI chrNW_004955480:3,982,977...4,314,160 JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:20504883 RGD:6903276 NCBI chrNW_004955474:1,914,477...1,922,025 JBrowse link
G Syk spleen associated tyrosine kinase ISO RGD PMID:21894146 RGD:6218988 NCBI chrNW_004955515:1,328,793...1,400,206 JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:21894146 RGD:6218988 NCBI chrNW_004955437:117,267...119,899 JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO protein:increased expression:urine, serum: RGD PMID:23460853 RGD:7241232 NCBI chrNW_004955435:5,390,745...5,410,025 JBrowse link
G Xcl1 X-C motif chemokine ligand 1 ISO mRNA:increased expression:glomerulus RGD PMID:9717977 RGD:8693304 NCBI chrNW_004955462:8,594,416...8,598,101 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 chrNW_004955492:7,863,662...7,874,863 JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6734075 NCBI chrNW_004955447:9,327...21,212 JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8225663 NCBI chrNW_004955437:17,995,726...18,000,542 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 chrNW_004955438:1,320,862...1,351,344 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 chrNW_004955416:15,049,849...15,071,108 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 chrNW_004955438:1,320,862...1,351,344 JBrowse link
G Vps33b VPS33B late endosome and lysosome associated ISO OMIM NCBI chrNW_004955416:15,049,849...15,071,108 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 chrNW_004955438:1,320,862...1,351,344 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 chrNW_004955513:2,761,386...2,786,447 JBrowse link
G Baat bile acid-CoA:amino acid N-acyltransferase ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 ClinVar NCBI chrNW_004955419:24,469,213...24,521,728 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 chrNW_004955437:449,171...460,898 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 chrNW_004955495:2,796,601...2,824,233 JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 ClinVar NCBI chrNW_004955413:6,707,003...6,715,689 JBrowse link
G Cd46 CD46 molecule 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:mutations:cds:multiple (human)
DNA:missense mutations:cds:p.R69W, p.A304V (human)
DNA:snp:intron:c.IVS8+23T>G (rs2724374) (human)
CTD Direct Evidence: marker/mechanism
protein:increased expression:peripheral blood mononuclear cell (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 chrNW_004955406:43,002,817...43,034,555 JBrowse link
G Cfb complement factor B susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA, protein:mutations:cds: c.858C>G, F286L, c.967A>G, K323E (human)
DNA:nonsense mutations: :multiple
OMIM
ClinVar
CTD
RGD
PMID:2249879, PMID:6308626, PMID:7452889, PMID:8181962, PMID:15661753, PMID:16518403, PMID:16936732, PMID:17182750, PMID:18806293, PMID:20108004, PMID:20513133, PMID:21541267, PMID:22440158, PMID:23847193, PMID:24033266, PMID:24652797, PMID:25741868, PMID:26054779 RGD:11040768, RGD:7242707 NCBI chrNW_004955437:461,235...466,908 JBrowse link
G Cfi complement factor I susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
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 chrNW_004955496:492,217...553,398 JBrowse link
G Dgke diacylglycerol kinase epsilon ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7
ClinVar Annotator: match by term: atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD
ClinVar
PMID:23542698, PMID:24511134, PMID:24747643, PMID:25741868, PMID:29590070, PMID:30311386 NCBI chrNW_004955451:5,966,773...5,988,004 JBrowse link
G Thbd thrombomodulin susceptibility
severity
no_association
ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
DNA:missense mutations:CDS:multiple
DNA:SNPs:5' utr, 3' utr: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 chrNW_004955415:30,222,830...30,226,406 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 chrNW_004955469:11,049,373...11,751,235 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 chrNW_004955557:947,368...1,252,701 JBrowse link
G Derl3 derlin 3 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955455:8,415,868...8,418,753 JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO OMIM NCBI chrNW_004955455:8,420,263...8,457,105 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 chrNW_004955467:9,241,391...9,256,716 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 chrNW_004955468:12,062,942...12,111,048 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 chrNW_004955453:7,261,278...7,351,414 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 chrNW_004955453:7,405,167...7,524,038 JBrowse link
G Myh9 myosin heavy chain 9 ISO DNA:missense mutation:exon:4270G>C,D1424H (human) RGD PMID:12500226 RGD:6902925 NCBI chrNW_004955413:22,881,759...22,972,182 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 chrNW_004955427:21,486,608...21,574,017 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 chrNW_004955413:2,182,459...2,192,279 JBrowse link
autosomal dominant polycystic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg2 ATP binding cassette subfamily G member 2 (Junior blood group) ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955474:12,365,903...12,408,715 JBrowse link
G Angpt2 angiopoietin 2 ISO protein:increased expression:bile duct (rat) RGD PMID:16628643 RGD:2314213 NCBI chrNW_004955403:54,139,823...54,193,740 JBrowse link
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12089381 NCBI chrNW_004955419:26,801,924...26,852,116 JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25877301 NCBI chrNW_004955495:7,959,033...7,989,216 JBrowse link
G C9 complement C9 disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chrNW_004955426:23,790,792...23,824,117 JBrowse link
G Cd14 CD14 molecule disease_progression ISO protein:altered localization:kidney,urine RGD PMID:20555320 RGD:7204130 NCBI chrNW_004955418:73,736...75,345 JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO protein:decreased expression:kidney RGD PMID:17714589 RGD:2289666 NCBI chrNW_004955437:6,254,638...6,261,278 JBrowse link
G Cfb complement factor B disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chrNW_004955437:461,235...466,908 JBrowse link
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955474:2,188,090...2,200,284 JBrowse link
G Dspp dentin sialophosphoprotein ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955474:2,254,842...2,259,303 JBrowse link
G Edn1 endothelin 1 ISO mRNA, protein:increased expression:kidney (human) RGD PMID:12629276 RGD:4144854 NCBI chrNW_004955465:2,287,906...2,314,945 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 chrNW_004955474:11,615,090...11,712,766 JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO protein: increased expression: kidney RGD PMID:16049073 RGD:7242198 NCBI chrNW_004955523:307,181...310,728 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 chrNW_004955599:556,510...569,891 JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chrNW_004955453:15,109,711...15,112,438 JBrowse link
G Gprin3 GPRIN family member 3 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955405:253,917...265,309 JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO protein:increased expression:kidney: RGD PMID:12388382 RGD:7245969 NCBI chrNW_004955408:11,047,679...11,070,492 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 chrNW_004955474:11,725,323...11,871,132 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 chrNW_004955474:11,954,915...11,991,849 JBrowse link
G Hsd17b11 hydroxysteroid 17-beta dehydrogenase 11 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955474:2,477,670...2,510,424 JBrowse link
G Hsd17b13 hydroxysteroid 17-beta dehydrogenase 13 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955474:2,532,213...2,554,324 JBrowse link
G Ibsp integrin binding sialoprotein ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955474:2,074,659...2,086,289 JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:decreased expression:urine (human) RGD PMID:9090470 RGD:6909172 NCBI chrNW_004955470:1,145,022...1,159,413 JBrowse link
G Itga8 integrin subunit alpha 8 ISO mRNA:increased expression:kidney RGD PMID:18277079 RGD:7257723 NCBI chrNW_004955429:11,932,764...12,120,757 JBrowse link
G Klhl8 kelch like family member 8 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955474:2,652,992...2,710,616 JBrowse link
G Lrp2 LDL receptor related protein 2 ISO RGD PMID:11841627 RGD:1641842 NCBI chrNW_004955449:5,155,109...5,314,886 JBrowse link
G Lrp5 LDL receptor related protein 5 susceptibility ISO DNA:missense mutation:cds:multiple mutations (human) RGD PMID:25920554 RGD:11553546 NCBI chrNW_004955422:17,394,371...17,475,244 JBrowse link
G Mepe matrix extracellular phosphoglycoprotein ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955474:2,048,883...2,064,515 JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:plasma (human) RGD PMID:10644865 RGD:7207194 NCBI chrNW_004955445:11,295,500...11,303,322 JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:23195001 RGD:7245504 NCBI chrNW_004955486:2,487,642...2,599,694 JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:kidney (mouse)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18356167, PMID:25877301 RGD:7207457 NCBI chrNW_004955461:2,714,022...2,718,872 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 chrNW_004955474:11,743,565...11,745,311 JBrowse link
G Nudt9 nudix hydrolase 9 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955474:2,402,400...2,438,145 JBrowse link
G Pigy phosphatidylinositol glycan anchor biosynthesis class Y ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955474:11,945,871...11,946,419 JBrowse link
G Pitx2 paired like homeodomain 2 ISO mRNA:increased expression:kidney RGD PMID:20926632 RGD:5131995 NCBI chrNW_004955457:15,803,493...15,823,193 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 chrNW_004955442:15,132,555...15,178,377 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 chrNW_004955474:1,831,221...1,868,170 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 chrNW_004955411:5,988,100...6,434,369 JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:20210794 NCBI chrNW_004955429:14,814,690...14,936,869 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 chrNW_004955474:12,229,658...12,250,783 JBrowse link
G Pyurf PIGY upstream reading frame ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955474:11,944,579...11,945,906 JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955442:15,114,333...15,119,481 JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 ISO protein:increased expression, increased activity:kidney RGD PMID:16221708 RGD:1643017 NCBI chrNW_004955451:3,181,085...3,225,610 JBrowse link
G Serping1 serpin family G member 1 disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chrNW_004955511:2,545,337...2,557,850 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 chrNW_004955408:29,626,775...29,640,811 JBrowse link
G Snca synuclein alpha ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955405:854,011...962,741 JBrowse link
G Sparcl1 SPARC like 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955474:2,352,662...2,387,237 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 chrNW_004955474:1,914,477...1,922,025 JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO protein:increased expression:kidney, epithelial cell RGD PMID:16399078 RGD:7243978 NCBI chrNW_004955458:4,833,417...4,847,956 JBrowse link
G Tigd2 tigger transposable element derived 2 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955405:80,872...84,184 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 chrNW_004955453:9,546,554...9,629,976 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 chrNW_004955408:32,596,497...32,719,967 JBrowse link
G Nr3c2 nuclear receptor subfamily 3 group C member 2 ISO OMIM NCBI chrNW_004955471:3,059,210...3,397,894 JBrowse link
G Stx16 syntaxin 16 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar NCBI chrNW_004955445:884,372...910,010 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 chrNW_004955514:3,902,508...3,924,281 JBrowse link
autosomal recessive 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 chrNW_004955453:7,261,278...7,351,414 JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO OMIM NCBI chrNW_004955453:7,405,167...7,524,038 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 chrNW_004955474:2,188,090...2,200,284 JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive ClinVar PMID:24033266, PMID:28492532 NCBI chrNW_004955436:12,416,147...12,477,214 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 chrNW_004955417:3,388,110...3,402,798 JBrowse link
autosomal recessive polycystic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 ISO protein:increased serine phosphorylation:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chrNW_004955538:3,208,711...3,224,386 JBrowse link
G Aqp1 aquaporin 1 (Colton blood group) ISO CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression, altered location:bile duct, epithelial cell
CTD
RGD
PMID:18988797 RGD:2307071 NCBI chrNW_004955410:32,066,196...32,078,661 JBrowse link
G C3 complement C3 ISO mRNA, protein:increased expression, increased activity:kidney RGD PMID:17960140 RGD:7175542 NCBI chrNW_004955495:2,796,601...2,824,233 JBrowse link
G Cd14 CD14 molecule severity ISO RGD PMID:20555320 RGD:7204130 NCBI chrNW_004955418:73,736...75,345 JBrowse link
G Cdc25a cell division cycle 25A treatment ISO protein:increased expression:cholangiocyte: RGD PMID:22155366 RGD:14700990 NCBI chrNW_004955420:24,345,002...24,361,802 JBrowse link
G Cftr CF transmembrane conductance regulator ISO mRNA, protein:increased expression:bile duct epithelium
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18988797 RGD:2307071 NCBI chrNW_004955432:23,179,645...23,328,347 JBrowse link
G Cys1 cystin 1 ISO RGD PMID:11854326 RGD:7175541 NCBI chrNW_004955487:5,455,820...5,461,362 JBrowse link
G Dzip1l DAZ interacting zinc finger protein 1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:28530676 NCBI chrNW_004955501:895,245...965,626 JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9486961 NCBI chrNW_004955456:321,222...456,431 JBrowse link
G Eln elastin ISO RGD PMID:21478483 RGD:7207865 NCBI chrNW_004955456:13,788,992...13,818,836 JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chrNW_004955453:15,109,711...15,112,438 JBrowse link
G Ift88 intraflagellar transport 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8191288, PMID:8608416 NCBI chrNW_004955497:1,338,959...1,454,788 JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO protein:increased serine phosphorylation:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chrNW_004955486:2,487,642...2,599,694 JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:kidney (mouse) RGD PMID:3479800 RGD:7207453 NCBI chrNW_004955461:2,714,022...2,718,872 JBrowse link
G Nphp3 nephrocystin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12089381 NCBI chrNW_004955501:5,799,879...5,837,022 JBrowse link
G Panx1 pannexin 1 ISO RGD PMID:31630543 RGD:14995937 NCBI chrNW_004955414:405,483...448,470 JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO protein:increased expression:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chrNW_004955420:8,355,415...8,427,024 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 chrNW_004955442:15,132,555...15,178,377 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 chrNW_004955474:1,831,221...1,868,170 JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin severity
susceptibility
ISO protein:decreased expression:kidney
ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease
ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT HEPATIC DISEASE
ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I
DNA:missense mutations:cds:
DNA:deletion:exon:
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutations: :multiple
DNA:splice site mutation:intron:IVS35-2A>T
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 chrNW_004955411:5,988,100...6,434,369 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 chrNW_004955491:5,498,472...5,513,389 JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18385429 NCBI chrNW_004955445:19,213,210...19,227,670 JBrowse link
G Tmem67 transmembrane protein 67 ISO RGD PMID:30705305 RGD:14995942 NCBI chrNW_004955417:10,097,488...10,137,959 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 chrNW_004955413:4,031,659...4,038,396 JBrowse link
G Scnn1a sodium channel epithelial 1 alpha subunit ISO OMIM NCBI chrNW_004955413:4,000,083...4,023,596 JBrowse link
G Scnn1b sodium channel epithelial 1 beta subunit ISO OMIM NCBI chrNW_004955493:1,937,507...1,956,248 JBrowse link
G Scnn1g sodium channel epithelial 1 gamma subunit ISO OMIM NCBI chrNW_004955493:1,787,693...1,813,085 JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive ClinVar NCBI chrNW_004955413:3,982,670...3,996,320 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 chrNW_004955406:40,016,624...40,026,286 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 chrNW_004955467:9,241,391...9,256,716 JBrowse link
Bartter disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bsnd barttin CLCNK type accessory beta subunit ISO Bartter syndrome with sensorineural deafness, OMIM:602522, DNA:point mutation:A1T, R8W, DNA:deletion:exon
ClinVar Annotator: match by term: Bartter's syndrome
RGD
ClinVar
PMID:11687798 RGD:1600603 NCBI chrNW_004955464:4,459,686...4,468,749 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 chrNW_004955412:29,801,022...29,832,153 JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:929154, PMID:3519017, PMID:15976003 NCBI chrNW_004955406:40,016,624...40,026,286 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 chrNW_004955409:5,597,033...5,680,009 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 chrNW_004955409:5,597,033...5,680,009 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 chrNW_004955412:29,801,022...29,832,153 JBrowse link
Bartter disease type 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bsnd barttin CLCNK type accessory beta subunit ISO OMIM NCBI chrNW_004955464:4,459,686...4,468,749 JBrowse link
Bartter disease type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maged2 MAGE family member D2 ISO OMIM NCBI chrNW_004955475:2,038,189...2,046,240 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 chrNW_004955434:17,754,002...17,901,416 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 chrNW_004955452:2,753,362...2,756,220 JBrowse link
G C1qb complement C1q B chain ISO OMIM NCBI chrNW_004955452:2,765,844...2,771,695 JBrowse link
G C1qc complement C1q C chain ISO OMIM NCBI chrNW_004955452:2,759,079...2,762,522 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 chrNW_004955406:40,922,972...40,971,433 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 chrNW_004955458:10,842,745...10,991,500 JBrowse link
G Upk3a uroplakin 3A ISO ClinVar Annotator: match by term: Renal hypodysplasia, nonsyndromic, 1 ClinVar PMID:15888565, PMID:16731295 NCBI chrNW_004955413:29,673,160...29,679,604 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 chrNW_004955409:9,432,835...9,439,680 JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chrNW_004955445:11,295,500...11,303,322 JBrowse link
G Tbx18 T-box transcription factor 18 ISO OMIM NCBI chrNW_004955411:12,194,560...12,232,374 JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chrNW_004955516:507,113...511,360 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 RGD:6904147, RGD:6904219 NCBI chrNW_004955419:13,478,904...13,492,329 JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:increased expression:serum: RGD PMID:21908029 RGD:7207408 NCBI chrNW_004955545:2,381,091...2,382,114 JBrowse link
G Casr calcium sensing receptor susceptibility ISO associated with Hyperparathyroidism, Primary; DNA:snp:intron:IVS1 G>A rs1501899 (human)
DNA:missense mutation:cds:p.R990G (rs1042636)(human)
DNA:snp:intron:IVS4+11988A>G rs17251221 (human)
DNA:missense mutations:cds:p.A986S, p.E1011Q (human)
RGD PMID:17018660, PMID:20602573, PMID:21183554, PMID:21966463 RGD:13464331, RGD:7205445, RGD:7205446, RGD:7205447 NCBI chrNW_004955427:21,486,608...21,574,017 JBrowse link
G Cat catalase ISO RGD PMID:21557843 RGD:7205663 NCBI chrNW_004955422:11,783,973...11,826,970 JBrowse link
G F2 coagulation factor II, thrombin ISO mRNA:decreased expression:kidney RGD PMID:16981243 RGD:6893592 NCBI chrNW_004955422:1,356,675...1,367,788 JBrowse link
G Fn1 fibronectin 1 ISO DNA:polymorphism: :
protein:increased expression:kidney
RGD PMID:11025758, PMID:19616291 RGD:7206842, RGD:7206846 NCBI chrNW_004955457:629,599...694,948 JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*1 (human) RGD PMID:17258699 RGD:6907128 NCBI chrNW_004955470:1,145,022...1,159,413 JBrowse link
G Pth parathyroid hormone ISO protein:decreased expression:serum (human) RGD PMID:23470222 RGD:7242417 NCBI chrNW_004955414:28,828,389...28,831,417 JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO OMIM NCBI chrNW_004955514:476,062...484,710 JBrowse link
Cardio-Renal Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Havcr1 hepatitis A virus cellular receptor 1 susceptibility ISO protein:increased expression:kidney tubule: RGD PMID:22367506, PMID:23220287 RGD:7245477, RGD:7245950 NCBI chrNW_004955408:11,047,679...11,070,492 JBrowse link
cataract 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc16a12 solute carrier family 16 member 12 ISO OMIM NCBI chrNW_004955425:3,474,814...3,560,138 JBrowse link
CD59 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd59 CD59 molecule (CD59 blood group) ISO OMIM NCBI chrNW_004955422:12,500,572...12,528,738 JBrowse link
chromophobe renal cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: Chromophobe renal cell carcinoma ClinVar PMID:9754819, PMID:15649945, PMID:19929997, PMID:21696527, PMID:22432108, PMID:25741868, PMID:28492532 NCBI chrNW_004955455:10,694,102...10,717,613 JBrowse link
G Hnf1b HNF1 homeobox B ISO ClinVar Annotator: match by term: Chromophobe renal cell carcinoma ClinVar PMID:15649945, PMID:16371430, PMID:25536396, PMID:25700310, PMID:25741868 NCBI chrNW_004955451:320,283...371,420 JBrowse link
Chromosome 11p Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar NCBI chrNW_004955476:9,850,110...10,054,313 JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:9727514, PMID:12868034, PMID:15086958, PMID:17417613, PMID:18776953, PMID:25741868, PMID:28492532 NCBI chrNW_004955476:10,058,979...10,074,668 JBrowse link
Chronic Allograft Nephropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco1 aconitase 1 ISO RGD PMID:20176611 RGD:11541086 NCBI chrNW_004955472:3,141,473...3,170,959 JBrowse link
G Alb albumin disease_progression ISO RGD PMID:24370342 RGD:11035281 NCBI chrNW_004955447:9,327...21,212 JBrowse link
G Clu clusterin treatment ISO RGD PMID:22494435 RGD:9068431 NCBI chrNW_004955403:50,160,598...50,175,876 JBrowse link
G Mmp7 matrix metallopeptidase 7 treatment ISO RGD PMID:18209025 RGD:9685339 NCBI chrNW_004955412:5,780,772...5,792,485 JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO RGD PMID:11889420 RGD:11080974 NCBI chrNW_004955460:8,328,400...8,346,755 JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO mRNA:increased expression:kidney: RGD PMID:11889420, PMID:15785371 RGD:10449491, RGD:11080974 NCBI chrNW_004955413:25,150,702...25,166,987 JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO RGD PMID:11889420 RGD:11080974 NCBI chrNW_004955447:16,570,652...16,613,410 JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO RGD PMID:11889420 RGD:11080974 NCBI chrNW_004955415:4,365,848...4,403,317 JBrowse link
G Plau plasminogen activator, urokinase ISO protein:increased secretion:T lymphocyte (human) RGD PMID:16387096 RGD:7241259 NCBI chrNW_004955437:17,995,726...18,000,542 JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO protein:increased expression:kidney: RGD PMID:16221712 RGD:13208600 NCBI chrNW_004955429:14,814,690...14,936,869 JBrowse link
G Serpine1 serpin family E member 1 treatment ISO protein:increased expression:kidney: RGD PMID:16221712, PMID:18192922 RGD:13208600, RGD:13208601 NCBI chrNW_004955456:16,147,523...16,157,040 JBrowse link
chronic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn4 actinin alpha 4 ISO ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:25741868 NCBI chrNW_004955468:770,573...841,859 JBrowse link
G Ager advanced glycosylation end-product specific receptor disease_progression
severity
susceptibility
ISO DNA:polymorphism:promoter:g.-374T>A (human)
protein:increased expression:serum (human)
DNA:polymorphisms:promoter, intron:g.-429T>C, g.2184A>G (human)
associated with Diabetes Mellitus, Type 2; DNA:polymorphism:promoter:g.-429T>C (human)
RGD PMID:20185929, PMID:20353610, PMID:21432860, PMID:21822023, PMID:23593165 RGD:7242570, RGD:7243185, RGD:7243867, RGD:7243958, RGD:7244142 NCBI chrNW_004955437:645,482...648,607 JBrowse link
G Agtr1 angiotensin II receptor type 1 disease_progression ISO DNA:polymorphism:3' utr:1166A>C (human) RGD PMID:12089373, PMID:12832734 RGD:6903863, RGD:8548869 NCBI chrNW_004955474:8,733,942...8,781,305 JBrowse link
G Agtr2 angiotensin II receptor type 2 ISO RGD PMID:12089373 RGD:6903863 NCBI chrNW_004955534:3,653,112...3,654,248 JBrowse link
G Akap12 A-kinase anchoring protein 12 susceptibility ISO DNA:polymorphism: :rs756009(human) RGD PMID:19724895 RGD:14349027 NCBI chrNW_004955439:10,241,298...10,262,416 JBrowse link
G Anln anillin actin binding protein ISO ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:25741868 NCBI chrNW_004955460:6,972,077...7,033,900 JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:25741868 NCBI chrNW_004955412:18,170,331...18,172,298 JBrowse link
G Apoa4 apolipoprotein A4 disease_progression ISO protein:increased expression:blood plasma (human) RGD PMID:21569504 RGD:5685637 NCBI chrNW_004955412:18,158,095...18,160,636 JBrowse link
G Apoc3 apolipoprotein C3 ISO protein:increased expression:plasma RGD PMID:21297177, PMID:21829457 RGD:7207207, RGD:7207209 NCBI chrNW_004955412:18,165,667...18,168,015 JBrowse link
G Arhgdia Rho GDP dissociation inhibitor alpha ISO ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:25741868 NCBI chrNW_004955506:1,297,604...1,300,072 JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:8589695, PMID:10742096, PMID:11805166, PMID:15253708, PMID:15327385, PMID:18823551, PMID:19406966, PMID:20947785, PMID:21355056, PMID:24509478, PMID:24742477, PMID:25741868, PMID:28492532, PMID:32581362 NCBI chrNW_004955406:18,717,383...18,859,263 JBrowse link
G Brca1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:7894492, PMID:8531967, PMID:8644703, PMID:8833256, PMID:8841191, PMID:9042909, PMID:9150153, PMID:10053113, PMID:10090881, PMID:10447273, PMID:10788334, PMID:11466700, PMID:12142080, PMID:15024741, PMID:15133502, PMID:15353005, PMID:15951956, PMID:15994883, PMID:16541315, PMID:17307836, PMID:18694767, PMID:18762988, PMID:18940477, PMID:19208665, PMID:20301425, PMID:20345474, PMID:20507347, PMID:20569256, PMID:21119707, PMID:21324516, PMID:21503673, PMID:22006311, PMID:22032251, PMID:22185575, PMID:22430266, PMID:23199084, PMID:23232912, PMID:23469205, PMID:23867111, PMID:24033266, PMID:24884479, PMID:25741868, PMID:26295337, PMID:26467025, PMID:26681312, PMID:26718727, PMID:27433846, PMID:28492532, PMID:29335925, PMID:29478780, PMID:29492181, PMID:30311386, PMID:30606148, PMID:31065452 NCBI chrNW_004955451:16,819,463...16,870,780 JBrowse link
G Cbr1 carbonyl reductase 1 ISO mRNA, protein:decreased expression:liver RGD PMID:25332430 RGD:11565077 NCBI chrNW_004955407:35,351,601...35,354,510 JBrowse link
G Cfi complement factor I ISO ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004955496:492,217...553,398 JBrowse link
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Chronic renal failure ClinVar PMID:28603918, PMID:30311386 NCBI chrNW_004955432:23,179,645...23,328,347 JBrowse link
G Clu clusterin ISO associated with Obesity;protein:increased expression:urine RGD PMID:24325231 RGD:9068427 NCBI chrNW_004955403:50,160,598...50,175,876 JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004955404:2,196,193...2,327,324 JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:14871398, PMID:17216251, PMID:24033266, PMID:24854265, PMID:25741868, PMID:26346198, PMID:26467025, PMID:27391953, PMID:28492532 NCBI chrNW_004955453:7,261,278...7,351,414 JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Chronic renal failure
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar PMID:12325029, PMID:24033266, PMID:24052634, PMID:25741868, PMID:28492532 NCBI chrNW_004955453:7,405,167...7,524,038 JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Chronic kidney disease
ClinVar Annotator: match by term: Chronic renal failure
ClinVar PMID:17396119, PMID:25741868, PMID:30311386 NCBI chrNW_004955490:7,168,725...7,409,655 JBrowse link
G Cpb2 carboxypeptidase B2 ISO DNA:polymorphism:cds :p.A147T(rs3742264)(human) RGD PMID:19056482 RGD:7243119 NCBI chrNW_004955518:3,740,348...3,803,540 JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 ISO protein:decreased expression:liver: RGD PMID:23045433 RGD:10400847 NCBI chrNW_004955454:2,933,904...2,944,675 JBrowse link
G Dgat2 diacylglycerol O-acyltransferase 2 ISO protein:decreased expression:liver: RGD PMID:23045433 RGD:10400847 NCBI chrNW_004955414:16,059,781...16,089,727 JBrowse link
G Dnm1l dynamin 1 like treatment ISO RGD PMID:27801955 RGD:12738369 NCBI chrNW_004955505:3,025,742...3,081,491 JBrowse link
G Dstyk dual serine/threonine and tyrosine protein kinase ISO ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:25741868 NCBI chrNW_004955406:40,922,972...40,971,433 JBrowse link
G Etfb electron transfer flavoprotein subunit beta ISO ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004955558:1,032,743...1,046,300 JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004955409:5,281,603...5,502,547 JBrowse link
G Fgf21 fibroblast growth factor 21 ISO protein:increased expression:serum: RGD PMID:22494291 RGD:10401925 NCBI chrNW_004955559:1,818,400...1,821,423 JBrowse link
G Fgf23 fibroblast growth factor 23 ISO protein:increased expression:serum: RGD PMID:20016468 RGD:10044210 NCBI chrNW_004955413:2,182,459...2,192,279 JBrowse link
G Fis1 fission, mitochondrial 1 treatment ISO RGD PMID:27801955 RGD:12738369 NCBI chrNW_004955456:16,057,158...16,060,623 JBrowse link
G Fn1 fibronectin 1 ISO ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004955457:629,599...694,948 JBrowse link
G Frem1 FRAS1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:25741868 NCBI chrNW_004955434:17,754,002...17,901,416 JBrowse link
G Ganab glucosidase II alpha subunit ISO ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004955599:556,510...569,891 JBrowse link
G Gata3 GATA binding protein 3 ISO ClinVar Annotator: match by term: Chronic renal failure ClinVar PMID:25741868 NCBI chrNW_004955421:24,448,446...24,477,885 JBrowse link
G Gja1 gap junction protein alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32045570 NCBI chrNW_004955436:3,612,533...3,618,095 JBrowse link
G Gpx1 glutathione peroxidase 1 treatment ISO RGD PMID:15954914 RGD:11352759 NCBI chrNW_004955532:1,298,336...1,298,830 JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO RGD PMID:22269876 RGD:7245952 NCBI chrNW_004955408:11,047,679...11,070,492 JBrowse link
G Il19 interleukin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24714768 NCBI chrNW_004955406:42,376,102...42,384,902 JBrowse link
G Il1b interleukin 1 beta ISO protein:decreased expression:serum (human)
mRNA:increased expression:kidney (mouse)
associated with Periodontitis; DNA:SNP:intron:g.3954C>T (human)
RGD PMID:21975861, PMID:22398717, PMID:22613545, PMID:22728154, PMID:22795294 RGD:6906881, RGD:7175095, RGD:7175169, RGD:7175171, RGD:7175304 NCBI chrNW_004955470:1,486,936...1,491,888 JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*1 (human)
protein:increased expression:plasma (human)
RGD PMID:22795294, PMID:23024164 RGD:6906880, RGD:6906881 NCBI chrNW_004955470:1,145,022...1,159,413 JBrowse link
G Inf2 inverted formin 2 ISO ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004955538:3,154,670...3,176,510 JBrowse link
G Insr insulin receptor ISO protein:decreased phosphorylation:aorta RGD PMID:22942179 RGD:7207055 NCBI chrNW_004955563:1,867,400...2,011,845 JBrowse link
G Kl klotho disease_progression
treatment
ISO protein:decreased expression:urine:
mRNA,protein:decreased expression:renal tubule, epithelial cell:
protein:decreased expression:urine,plasma,kidney:
RGD PMID:11967236, PMID:21115613 RGD:10403077, RGD:70544 NCBI chrNW_004955431:12,782,913...12,833,215 JBrowse link
G Klk1 kallikrein 1 susceptibility ISO associated with Vesico-Ureteral Reflux RGD PMID:15086490 RGD:1581752 NCBI chrNW_004955559:457,030...461,086 JBrowse link
G Mfn1 mitofusin 1 treatment ISO RGD PMID:27801955 RGD:12738369 NCBI chrNW_004955420:8,541,547...8,596,494 JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:polymorphism:cds:g.677C>T (human) RGD PMID:23595572 RGD:7244284 NCBI chrNW_004955486:2,096,379...2,112,240 JBrowse link
G Myh9 myosin heavy chain 9 no_association ISO RGD PMID:22956460 RGD:12798515 NCBI chrNW_004955413:22,881,759...22,972,182 JBrowse link
G Nfe2l2 nuclear factor, erythroid 2 like 2 treatment ISO RGD PMID:23174956 RGD:10412711 NCBI chrNW_004955403:19,510,122...19,536,428 JBrowse link
G Ngf nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24244623 NCBI chrNW_004955435:18,581,889...18,633,330 JBrowse link
G Nos3 nitric oxide synthase 3 treatment
susceptibility
ISO mRNA:decreased expression:cortex of kidney (rat) RGD PMID:29018182, PMID:29247650 RGD:13450920, RGD:13504713 NCBI chrNW_004955491:5,438,228...5,457,308 JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: Chronic renal failure ClinVar PMID:30311386 NCBI chrNW_004955568:1,660,357...1,812,285 JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin severity ISO mRNA:increased expression:urine (human) RGD PMID:30133147 RGD:38549368 NCBI chrNW_004955468:2,715,728...2,734,174 JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:8589695, PMID:10742096, PMID:11729243, PMID:11805166, PMID:11854170, PMID:12649741, PMID:14570703, PMID:14675423, PMID:14978175, PMID:15253708, PMID:15327385, PMID:17371932,