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

RGD DISEASE ONTOLOGY - ANNOTATIONS

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

Term:kidney disease
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1 ATP binding cassette subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24502637 NCBI chrNW_004936763:1,225,355...1,308,257 JBrowse link
G Abcc3 ATP binding cassette subfamily C member 3 severity ISO mRNA:increased expression:kidney RGD PMID:17855625 RGD:2301062 NCBI chrNW_004936490:11,039,968...11,086,670 JBrowse link
G Ackr3 atypical chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22880115 NCBI chrNW_004936525:1,559,575...1,570,679 JBrowse link
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:19913069, PMID:31697999 NCBI chrNW_004936735:266,918...283,858 JBrowse link
G Adra1b adrenoceptor alpha 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18257748 NCBI chrNW_004936515:3,523,799...3,572,467 JBrowse link
G Adrb2 adrenoceptor beta 2 ISO Associated with Escherichia coli infection; RGD PMID:20349426 RGD:7175274 NCBI chrNW_004936504:5,985,407...5,987,453 JBrowse link
G Ager advanced glycosylation end-product specific receptor ISO associated with Obesity RGD PMID:21412218 RGD:7243938 NCBI chrNW_004936727:1,418,342...1,422,005 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_004936484:19,713,299...19,721,144 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_004936519:6,831,096...6,873,977 JBrowse link
G Alad aminolevulinate dehydratase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23792432, PMID:24631795 NCBI chrNW_004936559:226,481...237,258 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_004936472:25,477,094...25,502,823 JBrowse link
G Anxa1 annexin A1 ISO CTD Direct Evidence: therapeutic CTD PMID:20484890 NCBI chrNW_004936503:9,124,314...9,142,372 JBrowse link
G Aqp9 aquaporin 9 ISO OMIM NCBI chrNW_004936471:19,321,366...19,361,227 JBrowse link
G Arid1b AT-rich interaction domain 1B ISO RGD PMID:14633620 RGD:1302474 NCBI chrNW_004936489:8,811,094...9,202,423 JBrowse link
G B2m beta-2-microglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2202081, PMID:17303580, PMID:24863737 NCBI chrNW_004936471:7,646,504...7,655,656 JBrowse link
G Bmp7 bone morphogenetic protein 7 ISO protein:decreased expression:kidney RGD PMID:16549155 RGD:2289038 NCBI chrNW_004936530:71,965...143,940 JBrowse link
G Calb1 calbindin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258088, PMID:21865292 NCBI chrNW_004936544:3,858,344...3,881,985 JBrowse link
G Casp3 caspase 3 ISO RGD PMID:29257007 RGD:13782293 NCBI chrNW_004936554:4,571,072...4,593,765 JBrowse link
G Casp8 caspase 8 ISO RGD PMID:29257007 RGD:13782293 NCBI chrNW_004936726:554,627...596,334 JBrowse link
G Casp9 caspase 9 ISO RGD PMID:29257007 RGD:13782293 NCBI chrNW_004936474:3,178,097...3,196,130 JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO RGD PMID:15882261 RGD:2307176 NCBI chrNW_004936490:253,279...259,947 JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:12969144 RGD:7248601 NCBI chrNW_004936513:10,607,617...10,620,403 JBrowse link
G Cd46 CD46 molecule ISO protein:increased expression:kidney RGD PMID:17594162 RGD:6483464 NCBI chrNW_004936557:5,136,784...5,175,543 JBrowse link
G Cd59 CD59 molecule (CD59 blood group) ISO CTD Direct Evidence: therapeutic CTD PMID:31618666 NCBI chrNW_004936533:4,242,589...4,263,136 JBrowse link
G Cdh1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31697999 NCBI chrNW_004936475:18,990,529...19,065,954 JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16968891 NCBI chrNW_004936476:22,717,308...22,725,127 JBrowse link
G Clu clusterin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258088, PMID:21593213, PMID:24863737 NCBI chrNW_004936675:499,745...513,515 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_004936600:2,898,321...3,037,414 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_004936525:8,642,744...8,774,975 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_004936499:6,143,736...6,360,565 JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:19429242 NCBI chrNW_004936490:15,142,526...15,146,375 JBrowse link
G Ctf1 cardiotrophin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:23335628 NCBI chrNW_004936501:13,286,821...13,291,280 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_004936631:484,356...489,643 JBrowse link
G Ctsd cathepsin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:15213268 NCBI chrNW_004936816:680,798...690,959 JBrowse link
G Cygb cytoglobin ISO RGD PMID:14647402 RGD:9685173 NCBI chrNW_004936594:1,602,436...1,613,783 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_004936794:1,432,379...1,468,966 JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8604712, PMID:10399635, PMID:15106802 NCBI chrNW_004936534:885,489...892,292 JBrowse link
G Egf epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21865292 NCBI chrNW_004936563:1,058,803...1,181,393 JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:20606417 NCBI chrNW_004936543:742,722...745,332 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_004936472:505,751...515,375 JBrowse link
G Fabp4 fatty acid binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30215792 NCBI chrNW_004936656:2,722,970...2,727,383 JBrowse link
G Fga fibrinogen alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:8097946, PMID:8639778 NCBI chrNW_004936576:1,322,406...1,329,743 JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8995747 NCBI chrNW_004936662:1,886,176...1,928,998 JBrowse link
G G6pd glucose-6-phosphate dehydrogenase treatment ISO RGD PMID:22549094 RGD:10449175 NCBI chrNW_004936809:1,269,900...1,285,853 JBrowse link
G Gatm glycine amidinotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22061828 NCBI chrNW_004936471:8,017,611...8,032,703 JBrowse link
G Glis2 GLIS family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17618285 NCBI chrNW_004936694:161,419...168,012 JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868187 NCBI chrNW_004936599:2,197,681...2,200,642 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_004936515:6,030,402...6,051,161 JBrowse link
G Hnf1a HNF1 homeobox A ISO associated with Hypertension RGD PMID:18443232 RGD:2301829 NCBI chrNW_004936668:62,103...81,549 JBrowse link
G Hnf1b HNF1 homeobox B ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:deletion:cds:multiple (human)
DNA:mutation, deletions::multiple
RGD PMID:16971658, PMID:17971380 RGD:10402549, RGD:2312749 NCBI chrNW_004936490:649,551...702,448 JBrowse link
G Hoxa11 homeobox A11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7596412 NCBI chrNW_004936478:3,809,288...3,813,014 JBrowse link
G Ift122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chrNW_004936602:908,034...956,634 JBrowse link
G Igf1 insulin like growth factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:8825380 NCBI chrNW_004936492:11,709,623...11,784,028 JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: therapeutic CTD PMID:9370186 NCBI chrNW_004936783:1,447,158...1,466,331 JBrowse link
G Il33 interleukin 33 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21949094 NCBI chrNW_004936539:763,755...791,461 JBrowse link
G Kl klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:23665422 NCBI chrNW_004936472:27,604,681...27,649,613 JBrowse link
G Lcn2 lipocalin 2 disease_progression ISO associated with Antineutrophil Cytoplasmic Antibody-associated Vasculitis;
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:19349640, PMID:20181666, PMID:20438795, PMID:23547217, PMID:27026710 RGD:7244373 NCBI chrNW_004936487:15,721,752...15,725,396 JBrowse link
G Ldlr low density lipoprotein receptor ISO RGD PMID:21795641 RGD:7241070 NCBI chrNW_004936659:1,259,405...1,300,545 JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20567778 NCBI chrNW_004936591:5,771,371...5,846,177 JBrowse link
G Lipc lipase C, hepatic type susceptibility
resistance
ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:transition:promoter:-514C>T (human)
associated with Diabetes Mellitus, Insulin-Dependent; DNA:transition:promoter:-514C>T (human)
RGD PMID:15983323, PMID:16928730 RGD:2308823, RGD:2308828 NCBI chrNW_004936471:19,604,083...19,733,721 JBrowse link
G LOC101966992 cytochrome b-245 heavy chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20116427 NCBI chrNW_004936502:4,631,750...4,676,686 JBrowse link
G LOC101968921 angiotensin-converting enzyme ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Renal dysplasia
CTD
ClinVar
PMID:8642790, PMID:16116425, PMID:20093180, PMID:20416077, PMID:21471972, PMID:22095942, PMID:22829467, PMID:24033266, PMID:24163131, PMID:25741868, PMID:28492532 NCBI chrNW_004936541:4,157,847...4,178,156 JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632512 NCBI chrNW_004936469:10,245,001...10,438,933 JBrowse link
G Mapk1 mitogen-activated protein kinase 1 ISO RGD PMID:15213271 RGD:7243971 NCBI chrNW_004936619:1,889,841...1,932,646 JBrowse link
G Mif macrophage migration inhibitory factor ISO associated with Hypercholesterolemia;mRNA:increased expression:glomerulus RGD PMID:9158105 RGD:1641957 NCBI chrNW_004936619:1,207,058...1,208,010 JBrowse link
G Mki67 marker of proliferation Ki-67 ISO RGD PMID:22017545 RGD:6483553 NCBI chrNW_004936486:15,561,327...15,587,109 JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:decreased expression:kidney RGD PMID:17392157 RGD:1642041 NCBI chrNW_004936514:7,038,240...7,045,873 JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19913069 NCBI chrNW_004936490:4,809,773...4,819,070 JBrowse link
G Mt4 metallothionein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19921116 NCBI chrNW_004936475:8,842,863...8,845,105 JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18551038 NCBI chrNW_004936474:623,438...637,849 JBrowse link
G Mxi1 MAX interactor 1, dimerization protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23316056 NCBI chrNW_004936486:1,103,908...1,173,982 JBrowse link
G Nek8 NIMA related kinase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18199800 NCBI chrNW_004936538:4,938,739...4,952,083 JBrowse link
G Nfe2l2 nuclear factor, erythroid 2 like 2 ISO CTD Direct Evidence: therapeutic CTD PMID:20605904 NCBI chrNW_004936509:6,589,967...6,621,171 JBrowse link
G Nfia nuclear factor I A ISO ClinVar Annotator: match by term: Renal dysplasia ClinVar PMID:30311386 NCBI chrNW_004936522:612,357...1,171,079 JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18441258 NCBI chrNW_004936538:4,052,277...4,097,051 JBrowse link
G Npr1 natriuretic peptide receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20881240 NCBI chrNW_004936580:3,479,858...3,496,896 JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:21613233 NCBI chrNW_004936475:19,771,384...19,785,034 JBrowse link
G Nr4a1 nuclear receptor subfamily 4 group A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24722447 NCBI chrNW_004936512:9,486,096...9,508,338 JBrowse link
G Parp1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20561897, PMID:21884784 NCBI chrNW_004936526:3,102,468...3,147,601 JBrowse link
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Kidney Disease ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chrNW_004936600:4,850,594...4,939,010 JBrowse link
G Pax9 paired box 9 ISO ClinVar Annotator: match by term: Kidney Disease ClinVar PMID:25741868 NCBI chrNW_004936494:10,657,902...10,673,176 JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chrNW_004936503:11,466,955...11,896,887 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_004936694:1,923,383...1,958,160 JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Kidney Diseases ClinVar PMID:30311386 NCBI chrNW_004936905:76,781...128,995 JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6143199 NCBI chrNW_004936493:7,060,747...7,065,276 JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316343 NCBI chrNW_004936629:3,672,445...3,725,645 JBrowse link
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO RGD PMID:27009276 RGD:11537650 NCBI chrNW_004936520:1,987,989...2,146,473 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19643929 NCBI chrNW_004936481:3,821,564...3,828,086 JBrowse link
G Pycard PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:22647887, PMID:24508291 NCBI chrNW_004936501:13,550,702...13,552,774 JBrowse link
G Ramp2 receptor activity modifying protein 2 ISO mRNA:increased expression:kidney RGD PMID:10733909 RGD:61729 NCBI chrNW_004936490:17,479,899...17,481,788 JBrowse link
G Rasal1 RAS protein activator like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23665422 NCBI chrNW_004936668:3,022,088...3,045,817 JBrowse link
G Rbp4 retinol binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22061828 NCBI chrNW_004936601:1,401,215...1,410,195 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_004936706:1,569,603...1,596,831 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_004936567:598,044...607,628 JBrowse link
G Rgn regucalcin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18805471 NCBI chrNW_004936502:12,872,938...12,891,270 JBrowse link
G Rpgrip1l RPGRIP1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17558407, PMID:17558409 NCBI chrNW_004936475:6,219,187...6,321,612 JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138848 NCBI chrNW_004936470:41,354,387...41,401,308 JBrowse link
G Six2 SIX homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18570229 NCBI chrNW_004936508:7,047,563...7,051,129 JBrowse link
G Slc12a3 solute carrier family 12 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21865292 NCBI chrNW_004936475:9,044,099...9,076,301 JBrowse link
G Slc22a2 solute carrier family 22 member 2 ISO CTD Direct Evidence: therapeutic CTD PMID:22525860 NCBI chrNW_004936489:11,605,403...11,627,786 JBrowse link
G Slc25a21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Kidney Disease ClinVar PMID:25741868 NCBI chrNW_004936494:10,675,534...11,157,829 JBrowse link
G Slc7a9 solute carrier family 7 member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21572414 NCBI chrNW_004936570:2,917,389...2,944,452 JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:26980705 NCBI chrNW_004936842:448,315...452,557 JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19917352, PMID:21571061 NCBI chrNW_004936489:11,178,338...11,191,601 JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:12660331 NCBI chrNW_004936515:11,026,156...11,046,812 JBrowse link
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27026710 NCBI chrNW_004936905:148,956...156,023 JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO protein:altered localization:kidney RGD PMID:15944339 RGD:1625196 NCBI chrNW_004936741:1,408,669...1,419,717 JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO protein:altered localization:kidney RGD PMID:15944339 RGD:1625196 NCBI chrNW_004936492:115,923...174,614 JBrowse link
G Sv2b synaptic vesicle glycoprotein 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16943307 NCBI chrNW_004936483:11,377,375...11,450,830 JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16968891 NCBI chrNW_004936815:468,987...492,666 JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19685247 NCBI chrNW_004936534:2,481,804...2,518,573 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_004936661:3,742,080...3,758,266 JBrowse link
G Tgfbi transforming growth factor beta induced ISO chronic cyclosporin A-induced nephropathy RGD PMID:16308546 RGD:1599389 NCBI chrNW_004936597:3,128,007...3,161,885 JBrowse link
G Tgfbr1 transforming growth factor beta receptor 1 ISO protein:increased expression:kidney RGD PMID:18198643 RGD:2302020 NCBI chrNW_004936524:7,656,523...7,680,043 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_004936473:21,324,669...21,409,430 JBrowse link
G Thg1l tRNA-histidine guanylyltransferase 1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:21784897 NCBI chrNW_004936515:5,462,344...5,468,475 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_004936544:6,887,867...6,931,669 JBrowse link
G Tnf tumor necrosis factor ISO associated with Arthritis, Rheumatoid RGD PMID:14613268 RGD:10450570 NCBI chrNW_004936727:1,936,066...1,937,766 JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO associated with Arthritis, Rheumatoid RGD PMID:14613268 RGD:10450570 NCBI chrNW_004936709:1,407,327...1,421,448 JBrowse link
G Trpc6 transient receptor potential cation channel subfamily C member 6 treatment ISO RGD PMID:23535151 RGD:7247439 NCBI chrNW_004936551:6,173,588...6,282,971 JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258341 NCBI chrNW_004936469:13,365,168...13,454,340 JBrowse link
G Umod uromodulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:8486146, PMID:19430482 NCBI chrNW_004936501:5,833,391...5,846,021 JBrowse link
G Vim vimentin ISO CTD Direct Evidence: marker/mechanism CTD PMID:31697999 NCBI chrNW_004936520:10,051,692...10,059,324 JBrowse link
G Vps33b VPS33B late endosome and lysosome associated ISO ARC syndrome, OMIM:208085 RGD PMID:15052268 RGD:1599749 NCBI chrNW_004936483:16,007,448...16,031,353 JBrowse link
G Wnk1 WNK lysine deficient protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21865292 NCBI chrNW_004936606:933,637...1,069,885 JBrowse link
G Wnt4 Wnt family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11832423 NCBI chrNW_004936474:7,623,462...7,635,416 JBrowse link
G Xylt1 xylosyltransferase 1 ISO mRNA:increased expression:kidney RGD PMID:18095597 RGD:2313146 NCBI chrNW_004936501:4,164,714...4,337,604 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_004936540:1,451,882...1,466,569 JBrowse link
G Wnt4 Wnt family member 4 ISO OMIM NCBI chrNW_004936474:7,623,462...7,635,416 JBrowse link
acute kidney failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chrNW_004936870:424,832...468,303 JBrowse link
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_004936504:5,985,407...5,987,453 JBrowse link
G Ager advanced glycosylation end-product specific receptor ISO RGD PMID:21811803 RGD:7243868 NCBI chrNW_004936727:1,418,342...1,422,005 JBrowse link
G Ahsg alpha 2-HS glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chrNW_004936578:3,332,934...3,339,903 JBrowse link
G Alad aminolevulinate dehydratase ISO protein:decreased activity:kidney (rat) RGD PMID:19484701 RGD:4144146 NCBI chrNW_004936559:226,481...237,258 JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO RGD PMID:19194548 RGD:2317536 NCBI chrNW_004936554:7,807,914...7,848,691 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_004936487:3,399,792...3,412,088 JBrowse link
G Amn amnion associated transmembrane protein ISO CTD Direct Evidence: therapeutic CTD PMID:20514524 NCBI chrNW_004936835:961,840...970,287 JBrowse link
G Anxa1 annexin A1 treatment ISO RGD PMID:22101490 RGD:7421583 NCBI chrNW_004936503:9,124,314...9,142,372 JBrowse link
G Ar androgen receptor ISO RGD PMID:24503548 RGD:11570523 NCBI chrNW_004936635:485,903...647,820 JBrowse link
G Arg2 arginase 2 ISO mRNA:decreased expression:renal tubule (rat) RGD PMID:12371970 RGD:631989 NCBI chrNW_004936495:11,004,296...11,045,467 JBrowse link
G Atp5f1b ATP synthase F1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25666834 NCBI chrNW_004936646:951,236...958,907 JBrowse link
G Avpr1a arginine vasopressin receptor 1A ISO RGD PMID:17347933 RGD:2300348 NCBI chrNW_004936545:1,788,995...1,795,842 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_004936471:7,646,504...7,655,656 JBrowse link
G Bad BCL2 associated agonist of cell death treatment ISO RGD PMID:20037173 RGD:10053672 NCBI chrNW_004936599:4,924,349...4,933,683 JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:20037173, PMID:20623750 RGD:10053672 NCBI chrNW_004936664:2,968,103...2,973,652 JBrowse link
G Bcl2 BCL2 apoptosis regulator ISO protein:increased expression:kidney RGD PMID:20037173 RGD:10053672 NCBI chrNW_004936497:2,209,136...2,373,580 JBrowse link
G Bcl2l1 BCL2 like 1 ISO protein:increased expression:kidney RGD PMID:20037173 RGD:10053672 NCBI chrNW_004936485:18,654,046...18,707,324 JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24975837 NCBI chrNW_004936604:548,844...551,031 JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chrNW_004936588:3,985,732...4,023,221 JBrowse link
G Capn1 calpain 1 treatment ISO associated with Rhabdomyolysis; RGD PMID:24158126 RGD:13792553 NCBI chrNW_004936599:4,178,963...4,201,037 JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO protein:increased expression:kidney RGD PMID:22778179 RGD:7247739 NCBI chrNW_004936538:835,436...848,907 JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased secretion:serum (mouse) RGD PMID:19508392 RGD:4889990 NCBI chrNW_004936490:253,279...259,947 JBrowse link
G Cct7 chaperonin containing TCP1 subunit 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31825490 NCBI chrNW_004936491:17,017,687...17,033,526 JBrowse link
G Cd44 CD44 molecule (Indian blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chrNW_004936533:2,949,026...3,033,166 JBrowse link
G Cdkn1b cyclin dependent kinase inhibitor 1B ISO protein:decreased expression:kidney RGD PMID:16557226 RGD:2293624 NCBI chrNW_004936587:4,573,166...4,578,480 JBrowse link
G Clu clusterin ISO protein:increased expression:urine
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:20118187, PMID:20623750, PMID:22005293, PMID:22581811, PMID:23052191, PMID:24361871, PMID:28885000 RGD:7245501 NCBI chrNW_004936675:499,745...513,515 JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chrNW_004936519:6,431,156...6,473,183 JBrowse link
G Crp C-reactive protein ISO associated with Myocardial Infarction;
protein:increased expression:serum
RGD PMID:22551254, PMID:22694718 RGD:6903282, RGD:6906888 NCBI chrNW_004936740:885,855...888,854 JBrowse link
G Csf1 colony stimulating factor 1 ISO RGD PMID:23143303 RGD:7257565 NCBI chrNW_004936704:1,372,137...1,393,355 JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO RGD PMID:23143303 RGD:7257565 NCBI chrNW_004936504:4,898,947...4,927,195 JBrowse link
G Ddit3 DNA damage inducible transcript 3 ISO Protein:increased expression:renal tubule epithelium RGD PMID:15476864 RGD:1599736 NCBI chrNW_004936646:1,665,019...1,669,212 JBrowse link
G Ece1 endothelin converting enzyme 1 ISO RGD PMID:10073607, PMID:11043448 RGD:7244180, RGD:7244185 NCBI chrNW_004936474:7,034,134...7,083,005 JBrowse link
G Edn1 endothelin 1 ISO mRNA, protein:increased expression:kidney (mouse)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:9788586, PMID:19967049 RGD:4144852 NCBI chrNW_004936534:885,489...892,292 JBrowse link
G Egf epidermal growth factor ISO RGD PMID:20482449 RGD:6906908 NCBI chrNW_004936563:1,058,803...1,181,393 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_004936678:365,005...560,546 JBrowse link
G Egln1 egl-9 family hypoxia inducible factor 1 ISO mRNA, protein:decreased expression:kidney RGD PMID:19349364 RGD:11252083 NCBI chrNW_004936484:19,343,770...19,386,087 JBrowse link
G Egln3 egl-9 family hypoxia inducible factor 3 ISO mRNA, protein:decreased expression:kidney RGD PMID:19349364 RGD:11252083 NCBI chrNW_004936494:8,240,272...8,267,487 JBrowse link
G Epas1 endothelial PAS domain protein 1 treatment ISO RGD PMID:16762988 RGD:10395386 NCBI chrNW_004936508:5,855,748...5,938,879 JBrowse link
G Ephx2 epoxide hydrolase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:26165641 NCBI chrNW_004936675:350,357...392,919 JBrowse link
G Epo erythropoietin treatment ISO CTD Direct Evidence: therapeutic RGD
CTD
PMID:21847101, PMID:22209169, PMID:22235348, PMID:24561306 RGD:10400913, RGD:11041660 NCBI chrNW_004936543:742,722...745,332 JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:renal tubule (rat) RGD PMID:21374789 RGD:8663469 NCBI chrNW_004936735:209,369...234,582 JBrowse link
G Fga fibrinogen alpha chain ISO mRNA:increased expression:kidney (rat) RGD PMID:15805072 RGD:9685024 NCBI chrNW_004936576:1,322,406...1,329,743 JBrowse link
G Fis1 fission, mitochondrial 1 ISO protein:decreased expression:kidney (rat) RGD PMID:26480480 RGD:12910862 NCBI chrNW_004936543:1,112,746...1,116,521 JBrowse link
G Fn1 fibronectin 1 ISO protein:increased expression:kidney RGD PMID:11768240, PMID:12884040 RGD:7205684, RGD:729934 NCBI chrNW_004936586:1,708,803...1,773,372 JBrowse link
G Fstl1 follistatin like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20861081 NCBI chrNW_004936536:7,132,369...7,186,951 JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:602954, PMID:734759, PMID:4794122 NCBI chrNW_004936809:1,269,900...1,285,853 JBrowse link
G Gas6 growth arrest specific 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19564549 NCBI chrNW_004936472:27,116...57,158 JBrowse link
G Gatm glycine amidinotransferase ISO protein:decreased activity:kidney (rat) RGD PMID:2752493 RGD:1599823 NCBI chrNW_004936471:8,017,611...8,032,703 JBrowse link
G Gc GC vitamin D binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chrNW_004936598:3,220,029...3,256,091 JBrowse link
G Gfer growth factor, augmenter of liver regeneration treatment ISO CTD Direct Evidence: therapeutic
protein:increased expression:cortex of kidney,renal medulla:
CTD
RGD
PMID:20030531 RGD:9685736 NCBI chrNW_004936694:2,051,362...2,053,812 JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO RGD PMID:19625378 RGD:7242430 NCBI chrNW_004936602:3,037,862...3,044,863 JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO protein:decreased activity:kidney (rat) RGD PMID:23924727 RGD:13506245 NCBI chrNW_004936475:10,438,715...10,462,915 JBrowse link
G Gpnmb glycoprotein nmb ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chrNW_004936478:397,200...425,663 JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:22785175 NCBI chrNW_004936536:6,730,070...6,893,818 JBrowse link
G Gsr glutathione-disulfide reductase ISO glycerol-induced
protein:decreased activity:kidney:
RGD PMID:1870354, PMID:22286819 RGD:7257559, RGD:7257585 NCBI chrNW_004936792:531,076...579,083 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_004936599:2,197,681...2,200,642 JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:urine:
associated with Pyelonephritis;protein:increased expression:urine:
CTD
RGD
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_004936515:6,030,402...6,051,161 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_004936531:9,332,939...9,345,039 JBrowse link
G Hdac2 histone deacetylase 2 treatment ISO associated with sepsis; RGD PMID:22933299 RGD:9590257 NCBI chrNW_004936679:2,448,676...2,474,641 JBrowse link
G Hdac3 histone deacetylase 3 ISO RGD PMID:21416250 RGD:10047111 NCBI chrNW_004936504:12,530,546...12,546,556 JBrowse link
G Hdac5 histone deacetylase 5 treatment ISO associated with sepsis; RGD PMID:21416250, PMID:22933299 RGD:10047111, RGD:9590257 NCBI chrNW_004936541:561,721...598,915 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_004936711:640,002...642,580 JBrowse link
G Hexb hexosaminidase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:22005293 NCBI chrNW_004936549:1,918,482...1,943,665 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_004936495:5,770,988...5,816,157 JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO associated with Sepsis RGD PMID:16557230 RGD:5508471 NCBI chrNW_004936549:1,378,536...1,400,501 JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO associated with Sepsis
CTD Direct Evidence: therapeutic
RGD
CTD
PMID:21048024, PMID:23807243 RGD:10755583 NCBI chrNW_004936492:5,042,353...5,049,216 JBrowse link
G Hpx hemopexin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chrNW_004936842:485,515...495,684 JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12690470, PMID:19546256 NCBI chrNW_004936727:1,732,323...1,735,128 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_004936542:7,577,192...7,581,598 JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment ISO RGD PMID:22659586 RGD:7175102 NCBI chrNW_004936659:616,570...627,172 JBrowse link
G Igf1 insulin like growth factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:7540432 NCBI chrNW_004936492:11,709,623...11,784,028 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_004936483:4,563,995...4,860,231 JBrowse link
G Igfbp1 insulin like growth factor binding protein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:7540432 NCBI chrNW_004936478:20,494,190...20,499,001 JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18460982 NCBI chrNW_004936557:5,834,874...5,838,502 JBrowse link
G Il18 interleukin 18 ISO RGD PMID:11342578 RGD:6893450 NCBI chrNW_004936612:2,306,963...2,325,086 JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:21716595 RGD:6907069 NCBI chrNW_004936783:1,210,715...1,218,315 JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:kidney (rat)
mRNA:increased expression:kidney, liver, spleen (mouse)
RGD PMID:21677145, PMID:22286667, PMID:22659586, PMID:22750969 RGD:7175094, RGD:7175102, RGD:7175258, RGD:7175314 NCBI chrNW_004936783:1,251,678...1,256,807 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_004936783:1,447,158...1,466,331 JBrowse link
G Il20 interleukin 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18496552 NCBI chrNW_004936557:5,749,419...5,751,776 JBrowse link
G Ins insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12243603 NCBI chrNW_004936816:1,002,137...1,003,357 JBrowse link
G Klk1 kallikrein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18227104 NCBI chrNW_004936889:534,127...537,913 JBrowse link
G Kng1 kininogen 1 ISO CTD Direct Evidence: therapeutic CTD PMID:513486, PMID:3015452 NCBI chrNW_004936578:3,255,335...3,281,296 JBrowse link
G Lcn2 lipocalin 2 ISO protein:increased expression:urine
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:20623750, PMID:22005293, PMID:23052191, PMID:23683031, PMID:27888128, PMID:28885000 RGD:7244370 NCBI chrNW_004936487:15,721,752...15,725,396 JBrowse link
G Lgals3 galectin 3 ISO mRNA:increased expression:kidney RGD PMID:10980121 RGD:9685228 NCBI chrNW_004936697:20,861...38,568 JBrowse link
G LOC101968921 angiotensin-converting enzyme treatment ISO RGD PMID:24502693 RGD:11039053 NCBI chrNW_004936541:4,157,847...4,178,156 JBrowse link
G LOC101969148 cytochrome P450 1A1 treatment ISO RGD PMID:18495746, PMID:19890363 RGD:7257732, RGD:7257735 NCBI chrNW_004936471:33,682,730...33,688,332 JBrowse link
G LOC101969421 cytochrome P450 1A2 treatment ISO RGD PMID:18495746, PMID:23981375 RGD:7257727, RGD:7257735 NCBI chrNW_004936471:33,704,616...33,709,455 JBrowse link
G LOC101973029 cytochrome P450 2E1 treatment ISO RGD PMID:24412858, PMID:24717297 RGD:14700914, RGD:14700920 NCBI chrNW_004936486:19,691,822...19,702,684 JBrowse link
G LOC101976500 haptoglobin ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:19270397, PMID:28885000 RGD:11041863 NCBI chrNW_004936475:21,841,054...21,845,821 JBrowse link
G LOC101978323 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial ISO RGD PMID:6223803 RGD:2307326 NCBI chrNW_004936646:1,899,686...1,904,104 JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29286200 NCBI chrNW_004936469:10,245,001...10,438,933 JBrowse link
G Mb myoglobin ISO protein: increased expression: serum RGD PMID:9822635, PMID:23497406 RGD:7244253, RGD:7244259 NCBI chrNW_004936492:4,890,871...4,897,665 JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO protein:increased expression:renal parenchyma (rat) RGD PMID:17940345 RGD:2317469 NCBI chrNW_004936589:2,280,803...2,390,179 JBrowse link
G Mfn1 mitofusin 1 ISO protein:decreased expression:kidney (rat) RGD PMID:26480480 RGD:12910862 NCBI chrNW_004936566:3,737,315...3,775,894 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_004936490:4,809,773...4,819,070 JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17387702 NCBI chrNW_004936474:623,438...637,849 JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:23022334 RGD:7245507 NCBI chrNW_004936474:158,376...282,310 JBrowse link
G Muc20 mucin 20, cell surface associated ISO RGD PMID:14565953 RGD:7364790 NCBI chrNW_004936784:482,605...511,233 JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor susceptibility ISO protein:decreased phosphorylation:kidney (mouse) RGD PMID:23228991 RGD:7207407 NCBI chrNW_004936470:20,480,844...20,485,955 JBrowse link
G Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 ISO RGD PMID:22160772 RGD:13801199 NCBI chrNW_004936600:5,122,004...5,126,776 JBrowse link
G Nes nestin ISO RGD PMID:24503548 RGD:11570523 NCBI chrNW_004936580:5,837,949...5,847,499 JBrowse link
G Nfe2l2 nuclear factor, erythroid 2 like 2 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:24291173, PMID:24958931 RGD:10412697 NCBI chrNW_004936509:6,589,967...6,621,171 JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29286200 NCBI chrNW_004936520:733,760...850,563 JBrowse link
G Nos1 nitric oxide synthase 1 ISO RGD PMID:14531809 RGD:13825139 NCBI chrNW_004936558:5,162,471...5,302,488 JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9810145 NCBI chrNW_004936538:4,052,277...4,097,051 JBrowse link
G Nos3 nitric oxide synthase 3 ISO in females;mRNA:increased expression:cortex of kidney (rat)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:9788586, PMID:28947737 RGD:13450947 NCBI chrNW_004936527:6,427,147...6,445,770 JBrowse link
G Nppa natriuretic peptide A ISO mRNA:increased expression:kidney
CTD Direct Evidence: marker/mechanism|therapeutic
RGD
CTD
PMID:1825077, PMID:2948068, PMID:19298916, PMID:22209992 RGD:7247715 NCBI chrNW_004936474:671,362...673,610 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_004936474:683,325...684,662 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_004936475:19,771,384...19,785,034 JBrowse link
G Ocln occludin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19766176 NCBI chrNW_004936480:99,516...152,834 JBrowse link
G Parp1 poly(ADP-ribose) polymerase 1 ISO RGD PMID:21884784 RGD:5510015 NCBI chrNW_004936526:3,102,468...3,147,601 JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel ISO protein:altered localization RGD PMID:12089381 RGD:7175293 NCBI chrNW_004936905:76,781...128,995 JBrowse link
G Plat plasminogen activator, tissue type ISO protein:increased expression:plasma (human) RGD PMID:9767551 RGD:11541071 NCBI chrNW_004936785:476,200...503,371 JBrowse link
G Plg plasminogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chrNW_004936489:11,775,243...11,808,482 JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:17216604 NCBI chrNW_004936493:7,060,747...7,065,276 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_004936602:1,230,907...1,368,588 JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO associated with Endotoxemia; mRNA:decreased expression:kidney (mouse) RGD PMID:21881206 RGD:7242026 NCBI chrNW_004936477:4,881,230...5,488,208 JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa treatment ISO RGD PMID:19092124 RGD:11250410 NCBI chrNW_004936469:43,841,989...43,850,322 JBrowse link
G Procr protein C receptor treatment ISO associated with Sepsis RGD PMID:23807243 RGD:10755583 NCBI chrNW_004936561:5,557,640...5,562,981 JBrowse link
G Ptafr platelet activating factor receptor treatment ISO associated with Endotoxemia RGD PMID:2538527 RGD:10043182 NCBI chrNW_004936474:12,333,905...12,337,140 JBrowse link
G Ptger4 prostaglandin E receptor 4 treatment ISO RGD PMID:16871242 RGD:10003092 NCBI chrNW_004936518:1,903,636...1,916,746 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:21893983 RGD:5508181 NCBI chrNW_004936481:3,821,564...3,828,086 JBrowse link
G Rapgef3 Rap guanine nucleotide exchange factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21745194 NCBI chrNW_004936512:5,636,197...5,659,606 JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO associated with Sepsis;protein:increased phosphorylation:kidney RGD PMID:19428114 RGD:8547990 NCBI chrNW_004936565:1,596,227...1,746,706 JBrowse link
G Scgb1a1 secretoglobin family 1A member 1 ISO associated with LPS induced endotoxemia RGD PMID:18824919 RGD:2313129 NCBI chrNW_004936581:798,738...801,614 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_004936481:13,981,014...13,993,750 JBrowse link
G Sirt1 sirtuin 1 severity ISO protein:increased expression:kidney (rat)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:21416250 RGD:10047111 NCBI chrNW_004936521:10,296,097...10,316,673 JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20623750 NCBI chrNW_004936569:888,309...895,991 JBrowse link
G Slc22a1 solute carrier family 22 member 1 treatment ISO RGD PMID:22414646 RGD:7243179 NCBI chrNW_004936489:11,534,095...11,556,759 JBrowse link
G Slc22a12 solute carrier family 22 member 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14655203 NCBI chrNW_004936599:4,693,493...4,698,556 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_004936489:11,605,403...11,627,786 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_004936597:1,667,700...1,684,533 JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chrNW_004936500:10,345,154...10,352,873 JBrowse link
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:11274264, PMID:20623750, PMID:22863853 RGD:6903264 NCBI chrNW_004936905:148,956...156,023 JBrowse link
G Tf transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chrNW_004936529:6,856,042...6,895,989 JBrowse link
G Tgfa transforming growth factor alpha ISO mRNA:increased expression:kidney RGD PMID:11340354 RGD:10395241 NCBI chrNW_004936491:14,659,089...14,758,614 JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10469268 NCBI chrNW_004936661:3,742,080...3,758,266 JBrowse link
G Thbd thrombomodulin treatment ISO RGD PMID:17804460, PMID:19176699 RGD:5684994, RGD:5685010 NCBI chrNW_004936620:2,563,900...2,568,117 JBrowse link
G Tlr2 toll like receptor 2 ISO associated with Sepsis
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:22655058, PMID:29286200 RGD:7207898 NCBI chrNW_004936576:522,234...531,660 JBrowse link
G Tlr4 toll like receptor 4 treatment ISO CTD Direct Evidence: marker/mechanism
associated with Sepsis
RGD
CTD
PMID:16638912, PMID:22266601, PMID:22655058, PMID:29286200 RGD:6892690, RGD:7207898, RGD:7241084 NCBI chrNW_004936487:6,519,140...6,532,018 JBrowse link
G Tnf tumor necrosis factor susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16595132, PMID:18460982, PMID:20623750, PMID:21150875 RGD:7245548 NCBI chrNW_004936727:1,936,066...1,937,766 JBrowse link
G Tnfrsf12a TNF receptor superfamily member 12A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23052191 NCBI chrNW_004936694:1,149,169...1,151,098 JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A susceptibility ISO associated with Acute Lung Injury
associated with Shock, Septic;protein:increased expression:serum
associated with Endotoxemia
RGD PMID:12023385, PMID:12500222, PMID:18074478, PMID:21150875 RGD:5128661, RGD:7245534, RGD:7245535, RGD:7245548 NCBI chrNW_004936709:1,407,327...1,421,448 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_004936474:908,414...935,765 JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20603111 NCBI chrNW_004936595:919,807...935,367 JBrowse link
G Ttr transthyretin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28885000 NCBI chrNW_004936682:1,628,489...1,635,495 JBrowse link
G Uts2r urotensin 2 receptor ISO RGD PMID:15146030 RGD:2306847 NCBI chrNW_004936923:24,952...31,083 JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:20943766, PMID:22808199 NCBI chrNW_004936476:16,245,134...16,261,180 JBrowse link
G Wnt4 Wnt family member 4 ISO RGD PMID:12707392 RGD:727218 NCBI chrNW_004936474:7,623,462...7,635,416 JBrowse link
G Xdh xanthine dehydrogenase treatment ISO associated with Reperfusion Injury RGD PMID:18539378, PMID:19628223, PMID:22571266 RGD:7247641, RGD:7247650, RGD:7247656 NCBI chrNW_004936493:1,762,814...1,824,501 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_004936692:2,593,409...2,654,583 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_004936530:71,965...143,940 JBrowse link
G Cct7 chaperonin containing TCP1 subunit 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31825490 NCBI chrNW_004936491:17,017,687...17,033,526 JBrowse link
G Ciita class II major histocompatibility complex transactivator ISO mRNA:increased expression:kidney RGD PMID:9422398 RGD:7242901 NCBI chrNW_004936530:9,033,510...9,073,341 JBrowse link
G Fabp1 fatty acid binding protein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18368030 NCBI chrNW_004936712:738,361...743,073 JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:decreased activity:renal cortex: RGD PMID:12885594, PMID:17078987 RGD:7257555, RGD:7257573 NCBI chrNW_004936792:531,076...579,083 JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO protein:increased expression:kidney tubule, urine: RGD PMID:12081583 RGD:7245970 NCBI chrNW_004936515:6,030,402...6,051,161 JBrowse link
G Nog noggin ISO associated with Kidney Reperfusion Injury RGD PMID:16284088 RGD:1601494 NCBI chrNW_004936490:6,262,651...6,264,069 JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:4358912, PMID:6254450 NCBI chrNW_004936493:7,060,747...7,065,276 JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19834340 NCBI chrNW_004936629:3,672,445...3,725,645 JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:19917352 NCBI chrNW_004936489:11,178,338...11,191,601 JBrowse link
G Tek TEK receptor tyrosine kinase ISO associated with Kidney Reperfusion Injury RGD PMID:16284088 RGD:1601494 NCBI chrNW_004936611:2,420,176...2,531,726 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_004936542:2,111,055...2,112,626 JBrowse link
G Tlr2 toll like receptor 2 ISO RGD PMID:22194975 RGD:7207900 NCBI chrNW_004936576:522,234...531,660 JBrowse link
G Tlr4 toll like receptor 4 ISO RGD PMID:22194975 RGD:7207900 NCBI chrNW_004936487:6,519,140...6,532,018 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_004936479:13,252,678...13,255,570 JBrowse link
G Egf epidermal growth factor ISO RGD PMID:19357719 RGD:6906909 NCBI chrNW_004936563:1,058,803...1,181,393 JBrowse link
G LOC101976500 haptoglobin ISO protein:increased expression:urine RGD PMID:19279121 RGD:11041816 NCBI chrNW_004936475:21,841,054...21,845,821 JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:23678040 RGD:7245474 NCBI chrNW_004936474:158,376...282,310 JBrowse link
G Myh9 myosin heavy chain 9 ISO protein:decreased expression:glomerulus RGD PMID:22313957 RGD:6903274 NCBI chrNW_004936492:4,384,215...4,466,229 JBrowse link
G Notch4 notch receptor 4 ISO protein: increased expression: kidney RGD PMID:20706108 RGD:6480788 NCBI chrNW_004936727:1,386,842...1,409,823 JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin treatment ISO RGD PMID:17229913, PMID:19188342 RGD:38596324, RGD:38599164 NCBI chrNW_004936570:495,421...514,179 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_004936528:8,005,223...8,007,586 JBrowse link
G Ager advanced glycosylation end-product specific receptor treatment ISO associated with Diabetes Mellitus, Experimental
associated with Diabetic Nephropathies
associated with Diabetes Mellitus, Type 2; protein:increased expression:serum (human)
RGD PMID:20627935, PMID:21607631, PMID:21796806 RGD:7243944, RGD:7244135, RGD:7244184 NCBI chrNW_004936727:1,418,342...1,422,005 JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:12414515, PMID:18679781, PMID:21896938 NCBI chrNW_004936484:19,713,299...19,721,144 JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B ISO associated with Diabetes Mellitus, Experimental;human gene in a rat model RGD PMID:12166624 RGD:8548813 NCBI chrNW_004936579:1,312,175...1,328,397 JBrowse link
G B2m beta-2-microglobulin ISO associated with HIV infections;protein:increased expression:urine RGD PMID:18469311 RGD:6482713 NCBI chrNW_004936471:7,646,504...7,655,656 JBrowse link
G Casr calcium sensing receptor ISO associated with Uremia RGD PMID:19188910 RGD:7205661 NCBI chrNW_004936536:8,574,064...8,599,446 JBrowse link
G Cd38 CD38 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21992601 NCBI chrNW_004936477:12,109,761...12,156,037 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_004936530:9,033,510...9,073,341 JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21752484 NCBI chrNW_004936519:6,431,156...6,473,183 JBrowse link
G Crp C-reactive protein severity ISO associated with hypertension
associated with Anemia, Sickle Cell; protein:increased expression:serum
RGD PMID:20016210, PMID:20710104 RGD:6907441, RGD:6909147 NCBI chrNW_004936740:885,855...888,854 JBrowse link
G Csf1 colony stimulating factor 1 treatment ISO associated with Hypercholesterolemia and Diabetes Mellitus, Experimental RGD PMID:8573750 RGD:7257591 NCBI chrNW_004936704:1,372,137...1,393,355 JBrowse link
G Ctsl cathepsin L ISO associated with Hypertension RGD PMID:19023196 RGD:2315726 NCBI chrNW_004936680:3,047,355...3,050,640 JBrowse link
G Drd1 dopamine receptor D1 ISO DNA:polymorphism:5' utr:g.-94G>A rs5326 (human) RGD PMID:17353515 RGD:7248452 NCBI chrNW_004936609:790,647...795,187 JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:renal papilla (rat) RGD PMID:20666571 RGD:4144838 NCBI chrNW_004936534:885,489...892,292 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_004936543:742,722...745,332 JBrowse link
G F7 coagulation factor VII no_association
severity
ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human)
associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human)
RGD PMID:8250495, PMID:8458188, PMID:9187410 RGD:2312406, RGD:2312407, RGD:2312410 NCBI chrNW_004936472:505,751...515,375 JBrowse link
G Fbn1 fibrillin 1 ISO associated with Hypertension RGD PMID:16380460 RGD:7365080 NCBI chrNW_004936471:10,747,030...10,969,223 JBrowse link
G Ggt1 gamma-glutamyltransferase 1 ISO associated with Diabetes Mellitus; protein:increased activity:serum RGD PMID:15890893 RGD:2315606 NCBI chrNW_004936619:762,278...791,610 JBrowse link
G Gnaq G protein subunit alpha q ISO CTD Direct Evidence: marker/mechanism CTD PMID:16267159 NCBI chrNW_004936503:13,098,517...13,276,106 JBrowse link
G Gpc5 glypican 5 ISO CTD Direct Evidence: therapeutic CTD PMID:21441931 NCBI chrNW_004936472:16,495,519...17,163,425 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_004936515:6,030,402...6,051,161 JBrowse link
G Igf1 insulin like growth factor 1 susceptibility ISO RGD PMID:16645019 RGD:1598420 NCBI chrNW_004936492:11,709,623...11,784,028 JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:23103566 RGD:7175089 NCBI chrNW_004936783:1,251,678...1,256,807 JBrowse link
G Ins insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:9861226, PMID:29420703 NCBI chrNW_004936816:1,002,137...1,003,357 JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17065336, PMID:20175764, PMID:23159718, PMID:29988851 NCBI chrNW_004936591:5,771,371...5,846,177 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_004936471:19,604,083...19,733,721 JBrowse link
G LOC101968921 angiotensin-converting enzyme treatment ISO associated with Diabetic Nephropathies
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Type 1;protein:increased activity:serum (human)
RGD
CTD
PMID:1336356, PMID:16902320, PMID:23733546 RGD:12879427, RGD:7829770 NCBI chrNW_004936541:4,157,847...4,178,156 JBrowse link
G Lrp2 LDL receptor related protein 2 ISO RGD PMID:12121845 RGD:1641839 NCBI chrNW_004936469:10,245,001...10,438,933 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_004936514:7,038,240...7,045,873 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_004936474:623,438...637,849 JBrowse link
G Myh9 myosin heavy chain 9 ISO associated with hypertension;DNA:SNPs: : RGD PMID:19153477 RGD:6903241 NCBI chrNW_004936492:4,384,215...4,466,229 JBrowse link
G Nck1 NCK adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chrNW_004936529:9,647,161...9,718,512 JBrowse link
G Nck2 NCK adaptor protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chrNW_004936764:141,159...185,482 JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15684566 NCBI chrNW_004936481:9,496,083...9,516,086 JBrowse link
G Pdpn podoplanin ISO RGD PMID:18199599 RGD:2292240 NCBI chrNW_004936474:1,751,159...1,779,011 JBrowse link
G Pon1 paraoxonase 1 ISO DNA:polymorphisms:promoter, cds (human) RGD PMID:16949520 RGD:2313272 NCBI chrNW_004936585:4,954,871...4,979,560 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_004936477:4,881,230...5,488,208 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17890881 NCBI chrNW_004936481:3,821,564...3,828,086 JBrowse link
G Pth parathyroid hormone ISO associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human) RGD PMID:23066118 RGD:7242730 NCBI chrNW_004936528:5,081,569...5,084,030 JBrowse link
G Pycard PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chrNW_004936501:13,550,702...13,552,774 JBrowse link
G Rab38 RAB38, member RAS oncogene family ISO RGD PMID:15758045 RGD:1357409 NCBI chrNW_004936736:1,304,290...1,360,412 JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12414515, PMID:18679781 NCBI chrNW_004936567:598,044...607,628 JBrowse link
G Retn resistin ISO associated with Hypertension;protein:increased expression:blood RGD PMID:20203628 RGD:7207150 NCBI chrNW_004936588:4,705,295...4,706,653 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_004936543:1,032,543...1,040,956 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_004936538:7,885,816...7,898,308 JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO RGD PMID:25776069 RGD:13442483 NCBI chrNW_004936558:4,103,898...4,126,883 JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17942768 NCBI chrNW_004936489:11,178,338...11,191,601 JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:18443355 RGD:6903862 NCBI chrNW_004936905:148,956...156,023 JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17167242 NCBI chrNW_004936727:1,936,066...1,937,766 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_004936662:1,130,555...1,171,352 JBrowse link
G Trpc5 transient receptor potential cation channel subfamily C member 5 ISO RGD PMID:24231357 RGD:10043830 NCBI chrNW_004936499:3,391,386...3,541,406 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_004936551:6,173,588...6,282,971 JBrowse link
G Tslp thymic stromal lymphopoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17686814 NCBI chrNW_004936531:5,495,872...5,500,462 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_004936748:785,491...802,791 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_004936525:8,642,744...8,774,975 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_004936525:8,788,753...8,899,671 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_004936499:6,143,736...6,360,565 JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:22937108 RGD:7175090 NCBI chrNW_004936783:1,251,678...1,256,807 JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO RGD PMID:16816359 RGD:7241212 NCBI chrNW_004936551:5,107,567...5,117,843 JBrowse link
G Myh9 myosin heavy chain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10973259 NCBI chrNW_004936492:4,384,215...4,466,229 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_004936541:7,867,856...7,916,145 JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Amelogenesis imperfecta and gingival fibromatosis syndrome
ClinVar Annotator: match by term: Enamel-renal syndrome
ClinVar PMID:21990045, PMID:23434854, PMID:23468644, PMID:24196488, PMID:25741868 NCBI chrNW_004936541:7,845,876...7,863,677 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_004936499:6,421,930...6,640,429 JBrowse link
anti-basement membrane glomerulonephritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO protein:increased expression:kidney, urine
mRNA, protein:increased expression:liver, plasma
RGD PMID:7550093, PMID:21282555 RGD:11039051, RGD:5129185 NCBI chrNW_004936484:19,713,299...19,721,144 JBrowse link
G Agtr1 angiotensin II receptor type 1 ISO protein:increased expression:kidney RGD PMID:21282555 RGD:5129185 NCBI chrNW_004936519:6,831,096...6,873,977 JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO mRNA, protein:increased expression:kidney RGD PMID:12234300 RGD:1579984 NCBI chrNW_004936664:2,968,103...2,973,652 JBrowse link
G Bcl2 BCL2 apoptosis regulator ISO mRNA, protein:decreased expression:kidney RGD PMID:12234300 RGD:1579984 NCBI chrNW_004936497:2,209,136...2,373,580 JBrowse link
G Ccl17 C-C motif chemokine ligand 17 ISO mRNA:increased expression:glomerulus RGD PMID:20071465 RGD:4145614 NCBI chrNW_004936475:9,475,013...9,476,326 JBrowse link
G Ccl22 C-C motif chemokine ligand 22 ISO mRNA, protein:increased expression:glomerulus RGD PMID:12651599 RGD:2306306 NCBI chrNW_004936475:9,432,505...9,436,240 JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:glomerulus RGD PMID:17898087 RGD:2307059 NCBI chrNW_004936490:253,279...259,947 JBrowse link
G Cd274 CD274 molecule treatment ISO RGD PMID:21965585 RGD:7248671 NCBI chrNW_004936539:132,870...145,288 JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:15210767 RGD:7248442 NCBI chrNW_004936514:6,936,915...6,947,246 JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:15458437 RGD:5508170 NCBI chrNW_004936513:10,607,617...10,620,403 JBrowse link
G Cd80 CD80 molecule ISO RGD PMID:10712436 RGD:6902936 NCBI chrNW_004936536:6,462,080...6,483,450 JBrowse link
G Cfb complement factor B ISO RGD PMID:22492944 RGD:7242700 NCBI chrNW_004936727:1,595,872...1,602,274 JBrowse link
G Clu clusterin ISO protein:increased expression:urine RGD PMID:23791361 RGD:9068422 NCBI chrNW_004936675:499,745...513,515 JBrowse link
G Csf1 colony stimulating factor 1 treatment ISO RGD PMID:19242505 RGD:7257569 NCBI chrNW_004936704:1,372,137...1,393,355 JBrowse link
G Csf1r colony stimulating factor 1 receptor treatment ISO RGD PMID:19242505 RGD:7257569 NCBI chrNW_004936504:4,898,947...4,927,195 JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 treatment ISO RGD PMID:8206086, PMID:10712436 RGD:11352257, RGD:6902936 NCBI chrNW_004936631:484,356...489,643 JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO mRNA, protein:increased expression:glomerulus RGD PMID:19590241 RGD:4891946 NCBI chrNW_004936475:9,443,851...9,454,715 JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO mRNA, protein:increased expression:glomerulus RGD PMID:19590241 RGD:4891946 NCBI chrNW_004936473:28,508,726...28,535,640 JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 ISO mRNA:increased expression:glomerulus RGD PMID:17557270 RGD:2306579 NCBI chrNW_004936617:4,224,131...4,239,080 JBrowse link
G Dusp1 dual specificity phosphatase 1 ISO mRNA:increased expression:glomerulus RGD PMID:8587253 RGD:633769 NCBI chrNW_004936609:2,688,170...2,691,057 JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa no_association ISO DNA:polymorphism:exon:(rs396991)(human)
DNA:cnv: :
RGD PMID:19640933, PMID:19946017 RGD:5508400, RGD:5508403 NCBI chrNW_004937131:42,523...49,533 JBrowse link
G Gp6 glycoprotein VI platelet ISO RGD PMID:20651232 RGD:7242710 NCBI chrNW_004936886:295,950...310,614 JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:23826305 RGD:7365004 NCBI chrNW_004936557:5,834,874...5,838,502 JBrowse link
G Il17a interleukin 17A treatment ISO RGD PMID:23826305 RGD:7365004 NCBI chrNW_004936476:8,621,860...8,625,008 JBrowse link
G Il18 interleukin 18 ISO RGD PMID:22046355 RGD:6893447 NCBI chrNW_004936612:2,306,963...2,325,086 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_004936783:1,251,678...1,256,807 JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO RGD PMID:20071465 RGD:4145614 NCBI chrNW_004936783:1,447,158...1,466,331 JBrowse link
G Il4 interleukin 4 ISO RGD PMID:9350645, PMID:17898087 RGD:2307059, RGD:2317673 NCBI chrNW_004936647:2,510,457...2,518,576 JBrowse link
G Itga4 integrin subunit alpha 4 treatment ISO RGD PMID:7679412, PMID:9032136 RGD:2308810, RGD:9698425 NCBI chrNW_004936509:10,215,283...10,293,653 JBrowse link
G LOC101963197 HLA class II histocompatibility antigen, DP beta 1 chain ISO RGD PMID:21569485 RGD:5147561 NCBI chrNW_004936476:25,730,800...25,741,089 JBrowse link
G LOC101970885 lymphotactin ISO mRNA:increased expression:glomerulus RGD PMID:9717977 RGD:8693304 NCBI chrNW_004936481:17,825,714...17,828,955 JBrowse link
G Mapk14 mitogen-activated protein kinase 14 ISO RGD PMID:21894146 RGD:6218988 NCBI chrNW_004936476:23,237,762...23,310,211 JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:21894146 RGD:6218988 NCBI chrNW_004936728:1,775,746...1,893,895 JBrowse link
G Mif macrophage migration inhibitory factor ISO RGD PMID:10780884 RGD:1642011 NCBI chrNW_004936619:1,207,058...1,208,010 JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO RGD PMID:21894146 RGD:6218988 NCBI chrNW_004936551:5,107,567...5,117,843 JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO mRNA:increased expression:kidney, macrophage RGD PMID:10878552 RGD:2314954 NCBI chrNW_004936722:1,447,189...1,457,632 JBrowse link
G Nos2 nitric oxide synthase 2 ISO RGD PMID:21894146 RGD:6218988 NCBI chrNW_004936538:4,052,277...4,097,051 JBrowse link
G Nppb natriuretic peptide B ISO RGD PMID:11729234 RGD:7248605 NCBI chrNW_004936474:683,325...684,662 JBrowse link
G Pdcd1 programmed cell death 1 treatment ISO RGD PMID:21965585 RGD:7248671 NCBI chrNW_004936745:152,571...163,712 JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO RGD PMID:17888025 RGD:5563035 NCBI chrNW_004936629:3,672,445...3,725,645 JBrowse link
G Ptk2b protein tyrosine kinase 2 beta ISO protein:increased expression:glomerulus RGD PMID:11774117 RGD:729912 NCBI chrNW_004936675:216,970...325,670 JBrowse link
G Rapgef1 Rap guanine nucleotide exchange factor 1 ISO protein:increased expression:renal glomerulus RGD PMID:18784646 RGD:11534983 NCBI chrNW_004936487:18,305,537...18,411,170 JBrowse link
G Selp selectin P ISO RGD PMID:21894146 RGD:6218988 NCBI chrNW_004936481:17,076,660...17,112,501 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_004936597:1,667,700...1,684,533 JBrowse link
G Slit2 slit guidance ligand 2 ISO mRNA:decreased expression:kidney, glomerulus RGD PMID:15215188 RGD:2316132 NCBI chrNW_004936477:8,111,212...8,448,567 JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:20504883 RGD:6903276 NCBI chrNW_004936905:148,956...156,023 JBrowse link
G Syk spleen associated tyrosine kinase ISO RGD PMID:21894146 RGD:6218988 NCBI chrNW_004936780:1,553,605...1,601,036 JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:21894146 RGD:6218988 NCBI chrNW_004936727:1,936,066...1,937,766 JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO protein:increased expression:urine, serum: RGD PMID:23460853 RGD:7241232 NCBI chrNW_004936748:785,491...802,791 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_004936484:19,713,299...19,721,144 JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8225663 NCBI chrNW_004936521:5,238,128...5,243,829 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_004936488:6,247,329...6,277,494 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_004936483:16,007,448...16,031,353 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_004936488:6,247,329...6,277,494 JBrowse link
G Vps33b VPS33B late endosome and lysosome associated ISO OMIM NCBI chrNW_004936483:16,007,448...16,031,353 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_004936488:6,247,329...6,277,494 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_004936669:3,449,259...3,478,471 JBrowse link
G C2 complement C2 ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
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_004936727:1,602,400...1,615,974 JBrowse link
G C3 complement C3 susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutations: :p.F603V, p.R1042L, p.I1157T (human)
OMIM
ClinVar
RGD
CTD
PMID:1976733, PMID:14639503, PMID:17517971, PMID:17634448, PMID:18325906, PMID:18796626, PMID:19168221, PMID:20301541, PMID:20513133, PMID:20595690, PMID:23314101, PMID:23431077, PMID:24036949, PMID:24036950, PMID:24036952, PMID:24736606, PMID:24845532, PMID:25608561, PMID:25741868, PMID:25951460, PMID:26613027, PMID:28492532 RGD:11040768, RGD:7364995 NCBI chrNW_004936588:3,985,732...4,023,221 JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 ClinVar NCBI chrNW_004936892:347,547...355,143 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
protein:increased expression:peripheral blood mononuclear cell (human)
DNA:missense mutations:cds:p.R69W, p.A304V (human)
DNA:snp:intron:c.IVS8+23T>G (rs2724374) (human)
DNA:mutations:cds:multiple (human)
CTD Direct Evidence: marker/mechanism
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_004936557:5,136,784...5,175,543 JBrowse link
G Cfb complement factor B susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
DNA, protein:mutations:cds: c.858C>G, F286L, c.967A>G, K323E (human)
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations: :multiple
OMIM
ClinVar
RGD
CTD
PMID:2249879, PMID:6308626, PMID:7452889, PMID:8181962, PMID:15661753, PMID:16518403, PMID:16936732, PMID:17182750, PMID:18806293, PMID:20108004, PMID:20513133, PMID:21541267, PMID:22440158, PMID:23847193, PMID:24033266, PMID:24652797, PMID:25741868, PMID:26054779 RGD:11040768, RGD:7242707 NCBI chrNW_004936727:1,595,872...1,602,274 JBrowse link
G Cfi complement factor I susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:15173250, PMID:16621965, PMID:18557729, PMID:18825487, PMID:19877009, PMID:20016463, PMID:20106822, PMID:20203157, PMID:20513133, PMID:20595690, PMID:22710145, PMID:23307876, PMID:23314101, PMID:23431077, PMID:23685748, PMID:23787556, PMID:24033266, PMID:24034049, PMID:24036952, PMID:24161037, PMID:25037630, PMID:25135378, PMID:25741868, PMID:25758434, PMID:27268256, PMID:28282489, PMID:28492532 RGD:6906889 NCBI chrNW_004936563:960,883...998,136 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_004936620:2,563,900...2,568,117 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_004936493:3,624,288...3,671,567 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_004936683:2,496,307...2,718,539 JBrowse link
G Derl3 derlin 3 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004936619:1,271,980...1,275,212 JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO OMIM NCBI chrNW_004936619:1,276,239...1,308,945 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_004936595:919,807...935,367 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_004936740:301,928...347,323 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_004936525:8,642,744...8,774,975 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_004936525:8,788,753...8,899,671 JBrowse link
G Myh9 myosin heavy chain 9 ISO DNA:missense mutation:exon:4270G>C,D1424H (human) RGD PMID:12500226 RGD:6902925 NCBI chrNW_004936492:4,384,215...4,466,229 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_004936536:8,574,064...8,599,446 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_004936606:4,555,034...4,561,961 JBrowse link
autosomal dominant polycystic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angpt2 angiopoietin 2 ISO protein:increased expression:bile duct (rat) RGD PMID:16628643 RGD:2314213 NCBI chrNW_004936615:4,472,261...4,524,537 JBrowse link
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12089381 NCBI chrNW_004936524:7,320,069...7,379,417 JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25877301 NCBI chrNW_004936596:5,176,682...5,246,102 JBrowse link
G C9 complement C9 disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chrNW_004936518:2,947,956...2,994,892 JBrowse link
G Cd14 CD14 molecule disease_progression ISO protein:altered localization:kidney,urine RGD PMID:20555320 RGD:7204130 NCBI chrNW_004936531:9,572,392...9,575,771 JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO protein:decreased expression:kidney RGD PMID:17714589 RGD:2289666 NCBI chrNW_004936476:22,717,308...22,725,127 JBrowse link
G Cfb complement factor B disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chrNW_004936727:1,595,872...1,602,274 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_004936905:419,478...427,335 JBrowse link
G Dspp dentin sialophosphoprotein ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004936905:458,062...463,359 JBrowse link
G Edn1 endothelin 1 ISO mRNA, protein:increased expression:kidney (human) RGD PMID:12629276 RGD:4144854 NCBI chrNW_004936534:885,489...892,292 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_004936685:1,174,072...1,358,441 JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO protein: increased expression: kidney RGD PMID:16049073 RGD:7242198 NCBI chrNW_004936488:4,384,710...4,388,118 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_004936581:613,292...633,075 JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chrNW_004936569:792,393...794,764 JBrowse link
G Gprin3 GPRIN family member 3 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004936685:1,649,740...1,712,958 JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO protein:increased expression:kidney: RGD PMID:12388382 RGD:7245969 NCBI chrNW_004936515:6,030,402...6,051,161 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_004936685:1,041,176...1,163,290 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_004936685:917,019...966,814 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_004936896:657,443...709,735 JBrowse link
G Ibsp integrin binding sialoprotein ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004936905:316,459...323,446 JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:decreased expression:urine (human) RGD PMID:9090470 RGD:6909172 NCBI chrNW_004936783:1,447,158...1,466,331 JBrowse link
G Itga8 integrin subunit alpha 8 ISO mRNA:increased expression:kidney RGD PMID:18277079 RGD:7257723 NCBI chrNW_004936574:5,985,181...6,155,067 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_004936920:4,418...22,583 JBrowse link
G Lrp2 LDL receptor related protein 2 ISO RGD PMID:11841627 RGD:1641842 NCBI chrNW_004936469:10,245,001...10,438,933 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_004936599:1,746,309...1,814,471 JBrowse link
G Mepe matrix extracellular phosphoglycoprotein ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004936905:284,849...297,297 JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:serum (human) RGD PMID:10644865 RGD:7207194 NCBI chrNW_004936551:5,167,909...5,175,149 JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:plasma (human) RGD PMID:10644865 RGD:7207194 NCBI chrNW_004936514:7,038,240...7,045,873 JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:23195001 RGD:7245504 NCBI chrNW_004936474:158,376...282,310 JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:kidney (mouse)
CTD
RGD
PMID:18356167, PMID:25877301 RGD:7207457 NCBI chrNW_004936470:20,480,844...20,485,955 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_004936685:1,142,051...1,143,536 JBrowse link
G Nudt9 nudix hydrolase 9 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004936905:586,160...616,490 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_004936685:984,606...985,106 JBrowse link
G Pitx2 paired like homeodomain 2 ISO mRNA:increased expression:kidney RGD PMID:20926632 RGD:5131995 NCBI chrNW_004936563:1,713,294...1,732,431 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:mutations:exons, intron:multiple
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.R3277C (mouse)
RGD
ClinVar
CTD
PMID:7581371, PMID:8004675, PMID:8554072, PMID:9521593, PMID:10200984, PMID:10364515, PMID:10854095, PMID:10987650, PMID:11058904, PMID:11115377, PMID:11216660, PMID:11558899, PMID:11571556, PMID:11691639, PMID:11840199, PMID:11857740, PMID:11967008, PMID:12007219, PMID:12070253, PMID:12089381, PMID:12482949, PMID:12842373, PMID:15772804, PMID:16430766, PMID:17574468, PMID:17582161, PMID:18077784, PMID:18640754, PMID:18837007, PMID:19165178, PMID:19401297, PMID:19686598, PMID:20558538, PMID:20981092, PMID:21115670, PMID:22008521, PMID:22090377, PMID:22185115, PMID:22333914, PMID:22383692, PMID:22508176, PMID:22608885, PMID:23064367, PMID:23300259, PMID:23431072, PMID:23760289, PMID:24033266, PMID:24374109, PMID:24694054, PMID:25333066, PMID:25646624, PMID:25741868, PMID:25877301, PMID:26139440, PMID:26453610, PMID:26467025, PMID:26632257, PMID:26661679, PMID:27499327, PMID:27567292, PMID:27884173, PMID:27894351, PMID:28887310, PMID:30333007 RGD:1601399, RGD:7175279, RGD:7175280 NCBI chrNW_004936694:1,923,383...1,958,160 JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel onset ISO DNA:mutations:multiple
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:8650545, PMID:9573526, PMID:9856513, PMID:9856528, PMID:10411676, PMID:10497221, PMID:10541293, PMID:10760080, PMID:11007674, PMID:11095651, PMID:11967008, PMID:11968093, PMID:12089381, PMID:12707387, PMID:12842373, PMID:14993477, PMID:15001556, PMID:15192819, PMID:15772804, PMID:15775720, PMID:16223735, PMID:16430766, PMID:16540757, PMID:17100995, PMID:17429049, PMID:17574468, PMID:17582161, PMID:18257781, PMID:18664456, PMID:18837007, PMID:19491093, PMID:19556541, PMID: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_004936905:76,781...128,995 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_004936476:8,730,766...9,160,102 JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:20210794 NCBI chrNW_004936602:1,230,907...1,368,588 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_004936685:742,081...765,728 JBrowse link
G Pyurf PIGY upstream reading frame ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004936685:985,007...987,646 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_004936694:1,896,360...1,902,272 JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 ISO protein:increased expression, increased activity:kidney RGD PMID:16221708 RGD:1643017 NCBI chrNW_004936490:3,441,046...3,492,917 JBrowse link
G Serping1 serpin family G member 1 disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chrNW_004936581:4,911,403...4,924,484 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_004936597:1,667,700...1,684,533 JBrowse link
G Snca synuclein alpha ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004936685:2,077,017...2,175,298 JBrowse link
G Sparcl1 SPARC like 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004936905:535,589...574,719 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_004936905:148,956...156,023 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_004936646:1,297,530...1,312,508 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_004936685:1,501,297...1,505,953 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_004936569:6,067,230...6,131,467 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_004936597:4,592,654...4,696,348 JBrowse link
G Nr3c2 nuclear receptor subfamily 3 group C member 2 ISO OMIM NCBI chrNW_004936535:1,139,687...1,467,469 JBrowse link
G Stx16 syntaxin 16 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar NCBI chrNW_004936530:1,196,088...1,220,935 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_004936477:18,339,915...18,364,973 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_004936525:8,642,744...8,774,975 JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO OMIM NCBI chrNW_004936525:8,788,753...8,899,671 JBrowse link
G LOC101964209 C-C chemokine receptor type 1 ISO RGD PMID:15716328 RGD:5688157 NCBI chrNW_004936596:177,774...183,186 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_004936905:419,478...427,335 JBrowse link
G LOC101964456 ectonucleotide pyrophosphatase/phosphodiesterase family member 1 ISO ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive ClinVar PMID:24033266, PMID:28492532 NCBI chrNW_004937067:194,375...246,607 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_004936544:362,591...379,151 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_004936621:620,163...639,115 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_004936478:7,146,997...7,160,369 JBrowse link
G C3 complement C3 ISO mRNA, protein:increased expression, increased activity:kidney RGD PMID:17960140 RGD:7175542 NCBI chrNW_004936588:3,985,732...4,023,221 JBrowse link
G Cd14 CD14 molecule severity ISO RGD PMID:20555320 RGD:7204130 NCBI chrNW_004936531:9,572,392...9,575,771 JBrowse link
G Cdc25a cell division cycle 25A treatment ISO protein:increased expression:cholangiocyte: RGD PMID:22155366 RGD:14700990 NCBI chrNW_004936596:1,657,411...1,680,109 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_004936589:1,565,933...1,719,208 JBrowse link
G Dzip1l DAZ interacting zinc finger protein 1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:28530676 NCBI chrNW_004936540:437,638...469,945 JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9486961 NCBI chrNW_004936678:365,005...560,546 JBrowse link
G Eln elastin ISO RGD PMID:21478483 RGD:7207865 NCBI chrNW_004936543:3,135,169...3,165,023 JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chrNW_004936569:792,393...794,764 JBrowse link
G Ift88 intraflagellar transport 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8191288, PMID:8608416 NCBI chrNW_004936720:1,041,216...1,168,725 JBrowse link
G LOC101968921 angiotensin-converting enzyme ISO mRNA:increased expression:kidney (rat) RGD PMID:20229187, PMID:20798958 RGD:12879406, RGD:2325220 NCBI chrNW_004936541:4,157,847...4,178,156 JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO protein:increased serine phosphorylation:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chrNW_004936474:158,376...282,310 JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:kidney (mouse) RGD PMID:3479800 RGD:7207453 NCBI chrNW_004936470:20,480,844...20,485,955 JBrowse link
G Nphp3 nephrocystin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12089381 NCBI chrNW_004936529:6,013,321...6,048,249 JBrowse link
G Panx1 pannexin 1 ISO RGD PMID:31630543 RGD:14995937 NCBI chrNW_004936674:736,911...773,406 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_004936566:3,924,013...3,951,052 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_004936694:1,923,383...1,958,160 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_004936905:76,781...128,995 JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin severity
susceptibility
ISO DNA:missense mutations:cds:
ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease
ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I
ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT HEPATIC DISEASE
DNA:missense mutations, nonsense mutations: :multiple
DNA:deletion:exon:
protein:decreased expression:kidney
CTD Direct Evidence: marker/mechanism
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_004936476:8,730,766...9,160,102 JBrowse link
G Slc4a2 solute carrier family 4 member 2 ISO mRNA, protein:increased expression, altered localization:cholangiocyte, basolateral plasma membrane
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18988797 RGD:2307071 NCBI chrNW_004936527:6,485,566...6,499,901 JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18385429 NCBI chrNW_004936561:3,826,802...3,844,406 JBrowse link
G Tmem67 transmembrane protein 67 ISO RGD PMID:30705305 RGD:14995942 NCBI chrNW_004936544:6,887,867...6,931,669 JBrowse link
autosomal recessive pseudohypoaldosteronism type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive
ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1
ClinVar Annotator: match by term: Pseudohypoaldosteronism type 1 autosomal recessive
ClinVar PMID:25741868 NCBI chrNW_004936709:1,362,846...1,369,287 JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO OMIM NCBI chrNW_004936709:1,377,852...1,403,398 JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO OMIM NCBI chrNW_004936501:8,021,090...8,065,245 JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO OMIM NCBI chrNW_004936501:7,932,729...7,958,146 JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive ClinVar NCBI chrNW_004936709:1,407,327...1,421,448 JBrowse link
Azotemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101969021 somatotropin ISO CTD Direct Evidence: marker/mechanism CTD PMID:14728886 NCBI chrNW_004936541:4,524,397...4,528,234 JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6338847 NCBI chrNW_004936567:598,044...607,628 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_004936595:919,807...935,367 JBrowse link
Bartter disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bsnd barttin CLCNK type accessory subunit beta ISO Bartter syndrome with sensorineural deafness, OMIM:602522, DNA:point mutation:A1T, R8W, DNA:deletion:exon
ClinVar Annotator: match by term: Bartter's syndrome
RGD
ClinVar
PMID:11687798 RGD:1600603 NCBI chrNW_004936522:6,329,981...6,338,825 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_004936572:3,396,329...3,425,848 JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:929154, PMID:3519017, PMID:15976003 NCBI chrNW_004936567:598,044...607,628 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_004936471:10,564,530...10,648,124 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_004936471:10,564,530...10,648,124 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_004936572:3,396,329...3,425,848 JBrowse link
Bartter disease type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Bartter syndrome type 3 ClinVar PMID:25741868 NCBI chrNW_004936474:3,591,134...3,601,562 JBrowse link
Bartter disease type 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bsnd barttin CLCNK type accessory subunit beta ISO OMIM NCBI chrNW_004936522:6,329,981...6,338,825 JBrowse link
Bartter disease type 4b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnka chloride voltage-gated channel Ka ISO OMIM NCBI chrNW_004936474:3,591,134...3,601,562 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_004936751:1,639,276...1,647,494 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_004936539:8,338,624...8,508,031 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_004936474:8,007,953...8,010,591 JBrowse link
G C1qb complement C1q B chain ISO OMIM NCBI chrNW_004936474:8,019,734...8,024,423 JBrowse link
G C1qc complement C1q C chain ISO OMIM NCBI chrNW_004936474:8,013,395...8,016,937 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_004936557:7,191,377...7,243,489 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_004936545:2,277,449...2,557,330 JBrowse link
G Upk3a uroplakin 3A ISO ClinVar Annotator: match by term: Renal hypodysplasia, nonsyndromic, 1 ClinVar PMID:15888565, PMID:16731295 NCBI chrNW_004936629:4,421,977...4,427,783 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_004936697:1,054,237...1,061,468 JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chrNW_004936514:7,038,240...7,045,873 JBrowse link
G Tbx18 T-box transcription factor 18 ISO OMIM NCBI chrNW_004936510:6,366,450...6,396,056 JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chrNW_004936502:13,345,936...13,350,170 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_004936487:3,399,792...3,412,088 JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:increased expression:serum: RGD PMID:21908029 RGD:7207408 NCBI chrNW_004936580:5,480,023...5,482,288 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_004936536:8,574,064...8,599,446 JBrowse link
G Cat catalase ISO RGD PMID:21557843 RGD:7205663 NCBI chrNW_004936533:3,601,270...3,637,128 JBrowse link
G F2 coagulation factor II, thrombin ISO mRNA:decreased expression:kidney RGD PMID:16981243 RGD:6893592 NCBI chrNW_004936562:2,371,725...2,388,617 JBrowse link
G Fn1 fibronectin 1 ISO DNA:polymorphism: :
protein:increased expression:kidney
RGD PMID:11025758, PMID:19616291 RGD:7206842, RGD:7206846 NCBI chrNW_004936586:1,708,803...1,773,372 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_004936783:1,447,158...1,466,331 JBrowse link
G Pth parathyroid hormone ISO protein:decreased expression:serum (human) RGD PMID:23470222 RGD:7242417 NCBI chrNW_004936528:5,081,569...5,084,030 JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO OMIM NCBI chrNW_004936477:22,209,445...22,213,592 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_004936515:6,030,402...6,051,161 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_004936601:4,685,215...4,766,116 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_004936533:4,242,589...4,263,136 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_004936668:62,103...81,549 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_004936490:649,551...702,448 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_004936533:5,985,873...6,216,124 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_004936533:5,952,529...5,980,889 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_004936524:1,081,672...1,134,971 JBrowse link
G Clu clusterin treatment ISO RGD PMID:22494435 RGD:9068431 NCBI chrNW_004936675:499,745...513,515 JBrowse link
G Mmp7 matrix metallopeptidase 7 treatment ISO RGD PMID:18209025 RGD:9685339 NCBI chrNW_004936551:5,388,456...5,395,071 JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO RGD PMID:11889420 RGD:11080974 NCBI chrNW_004936754:808,894...828,554 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_004936492:2,353,840...2,368,573 JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO RGD PMID:11889420 RGD:11080974 NCBI chrNW_004936482:16,804,129...16,853,539 JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO RGD PMID:11889420 RGD:11080974 NCBI chrNW_004936504:4,762,251...4,799,789 JBrowse link
G Plau plasminogen activator, urokinase ISO protein:increased secretion:T lymphocyte (human) RGD PMID:16387096 RGD:7241259 NCBI chrNW_004936521:5,238,128...5,243,829 JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO protein:increased expression:kidney: RGD PMID:16221712 RGD:13208600 NCBI chrNW_004936602:1,230,907...1,368,588 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_004936543:1,032,543...1,040,956 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_004936801:1,333,077...1,402,885 JBrowse link
G Ager advanced glycosylation end-product specific receptor severity
susceptibility
disease_progression
ISO DNA:polymorphisms:promoter, intron:g.-429T>C, g.2184A>G (human)
associated with Diabetes Mellitus, Type 2; DNA:polymorphism:promoter:g.-429T>C (human)
protein:increased expression:serum (human)
DNA:polymorphism:promoter:g.-374T>A (human)
RGD PMID:20185929, PMID:20353610, PMID:21432860, PMID:21822023, PMID:23593165 RGD:7242570, RGD:7243185, RGD:7243867, RGD:7243958, RGD:7244142 NCBI chrNW_004936727:1,418,342...1,422,005 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_004936519:6,831,096...6,873,977 JBrowse link
G Agtr2 angiotensin II receptor type 2 ISO RGD PMID:12089373 RGD:6903863 NCBI chrNW_004936479:13,252,678...13,255,570 JBrowse link
G Akap12 A-kinase anchoring protein 12 susceptibility ISO DNA:polymorphism: :rs756009(human) RGD PMID:19724895 RGD:14349027 NCBI chrNW_004936489:4,237,466...4,258,408 JBrowse link
G Anln anillin actin binding protein ISO ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:25741868 NCBI chrNW_004936478:11,873,676...11,934,425 JBrowse link
G Aoc3 amine oxidase copper containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23154672 NCBI chrNW_004936490:17,549,836...17,564,867 JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:25741868 NCBI chrNW_004936542:2,111,055...2,112,626 JBrowse link
G Apoa4 apolipoprotein A4 disease_progression ISO protein:increased expression:blood plasma (human) RGD PMID:21569504 RGD:5685637 NCBI chrNW_004936542:2,098,683...2,101,127 JBrowse link
G Apoc3 apolipoprotein C3 ISO protein:increased expression:plasma RGD PMID:21297177, PMID:21829457 RGD:7207207, RGD:7207209 NCBI chrNW_004936542:2,106,927...2,108,412 JBrowse link
G Arhgdia Rho GDP dissociation inhibitor alpha ISO ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:25741868 NCBI chrNW_004936594:5,383,370...5,386,618 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_004936481:9,531,655...9,609,564 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_004936490:17,735,444...17,801,456 JBrowse link
G Cfi complement factor I ISO ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004936563:960,883...998,136 JBrowse link
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Chronic renal failure ClinVar PMID:28603918, PMID:30311386 NCBI chrNW_004936589:1,565,933...1,719,208 JBrowse link
G Clu clusterin ISO associated with Obesity;protein:increased expression:urine RGD PMID:24325231 RGD:9068427 NCBI chrNW_004936675:499,745...513,515 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_004936472:2,416,043...2,543,561 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_004936525:8,642,744...8,774,975 JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Chronic kidney disease
ClinVar Annotator: match by term: Chronic renal failure
ClinVar PMID:12325029, PMID:24033266, PMID:24052634, PMID:25741868, PMID:28492532 NCBI chrNW_004936525:8,788,753...8,899,671 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_004936499:6,143,736...6,360,565 JBrowse link
G Cpb2 carboxypeptidase B2 ISO DNA:polymorphism:cds :p.A147T(rs3742264)(human) RGD PMID:19056482 RGD:7243119 NCBI chrNW_004936857:577,067...609,855 JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 ISO protein:decreased expression:liver: RGD PMID:23045433 RGD:10400847 NCBI chrNW_004936470:7,916,438...7,926,089 JBrowse link
G Dgat2 diacylglycerol O-acyltransferase 2 ISO protein:decreased expression:liver: RGD PMID:23045433 RGD:10400847 NCBI chrNW_004936498:4,514,212...4,544,523 JBrowse link
G Dnm1l dynamin 1 like treatment ISO RGD PMID:27801955 RGD:12738369 NCBI chrNW_004936607:3,576,357...3,632,423 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_004936557:7,191,377...7,243,489 JBrowse link
G Ehhadh enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase ISO ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004936578:4,554,164...4,666,427 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_004937378:26,164...31,470 JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004936471:10,747,030...10,969,223 JBrowse link
G Fgf21 fibroblast growth factor 21 ISO protein:increased expression:serum: RGD PMID:22494291 RGD:10401925 NCBI chrNW_004936664:2,826,823...2,828,330 JBrowse link
G Fgf23 fibroblast growth factor 23 ISO protein:increased expression:serum: RGD PMID:20016468 RGD:10044210 NCBI chrNW_004936606:4,555,034...4,561,961 JBrowse link
G Fis1 fission, mitochondrial 1 treatment ISO RGD PMID:27801955 RGD:12738369 NCBI chrNW_004936543:1,112,746...1,116,521 JBrowse link
G Fn1 fibronectin 1 ISO ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004936586:1,708,803...1,773,372 JBrowse link
G Frem1 FRAS1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:25741868 NCBI chrNW_004936539:8,338,624...8,508,031 JBrowse link
G Ganab glucosidase II alpha subunit ISO ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004936581:613,292...633,075 JBrowse link
G Gata3 GATA binding protein 3 ISO ClinVar Annotator: match by term: Chronic renal failure ClinVar PMID:25741868 NCBI chrNW_004936484:6,780,692...6,800,883 JBrowse link
G Gpx1 glutathione peroxidase 1 treatment ISO RGD PMID:15954914 RGD:11352759 NCBI chrNW_004936529:997,943...999,123 JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO RGD PMID:22269876 RGD:7245952 NCBI chrNW_004936515:6,030,402...6,051,161 JBrowse link
G Il19 interleukin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24714768 NCBI chrNW_004936557:5,765,093...5,769,853 JBrowse link
G Il1b interleukin 1 beta ISO mRNA:increased expression:kidney (mouse)
associated with Periodontitis; DNA:SNP:intron:g.3954C>T (human)
protein:decreased expression:serum (human)
RGD PMID:21975861, PMID:22398717, PMID:22613545, PMID:22728154, PMID:22795294 RGD:6906881, RGD:7175095, RGD:7175169, RGD:7175171, RGD:7175304 NCBI chrNW_004936783:1,251,678...1,256,807 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_004936783:1,447,158...1,466,331 JBrowse link
G Inf2 inverted formin 2 ISO ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004936621:677,548...693,609