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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

Term:end stage renal disease
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Accession:DOID:783 term browser browse the term
Definition:A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease. (DO)
Synonyms:exact_synonym: ESRD;   chronic kidney failure;   end stage kidney disease;   end stage renal failure
 primary_id: MESH:D007676
 xref: ICD9CM:585.6
For additional species annotation, visit the Alliance of Genome Resources.


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end stage renal disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP binding cassette subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19878707 NCBI chr 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
JBrowse link
G Abcb1a ATP binding cassette subfamily B member 1A IEP RGD PMID:17135344 RGD:2301067 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B IDA RGD PMID:17135344 RGD:2301067 NCBI chr 4:22,225,123...22,307,577
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 IDA RGD PMID:17135344 RGD:2301067 NCBI chr 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
JBrowse link
G Abcc3 ATP binding cassette subfamily C member 3 IEP protein:decreased expression:intestine RGD PMID:17135344 RGD:2301067 NCBI chr10:82,047,308...82,116,928
Ensembl chr10:82,047,863...82,117,109
JBrowse link
G Abcg1 ATP binding cassette subfamily G member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19878707 NCBI chr20:9,743,269...9,842,735
Ensembl chr20:9,743,269...9,840,489
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 IEP
ISO
protein:increased expression:kidney (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:19878707, PMID:19878707 RGD:2326081 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Ace angiotensin I converting enzyme treatment
susceptibility
ISO
IMP
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Type 2;DNA:deletion:intron:IVS16+1464-1751del (human)
associated with Vesico-Ureteral Reflux;DNA:deletion
CTD PMID:7593601 PMID:10099885, PMID:15118671, PMID:14586729, PMID:16385653, PMID:20149750 RGD:1331525, RGD:12879398, RGD:8142355, RGD:6903283 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing IEP
ISO
protein:increased expression:serum, urine
CTD Direct Evidence: marker/mechanism
CTD PMID:19539174, PMID:24028144 RGD:8695941 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Adipor1 adiponectin receptor 1 IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:19539174, PMID:24028144 RGD:8695941 NCBI chr13:51,240,470...51,260,233
Ensembl chr13:51,240,911...51,260,228
JBrowse link
G Adipor2 adiponectin receptor 2 IEP RGD PMID:24028144 RGD:8695941 NCBI chr 4:151,412,135...151,480,108
Ensembl chr 4:151,414,684...151,428,894
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO RGD PMID:9730702 RGD:7175286 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO protein:increased expression:serum (human) RGD PMID:21822023 RGD:7243867 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Agt angiotensinogen ISO GAD PMID:15118671 RGD:1331525 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO associated with Vesico-Ureteral Reflux;DNA:SNP: :-1332A>G (human) RGD PMID:20149750, PMID:19212419 RGD:6903283, RGD:6903843 NCBI chr  X:119,389,480...119,393,845
Ensembl chr  X:119,390,013...119,393,842
JBrowse link
G Alb albumin disease_progression ISO CTD Direct Evidence: marker/mechanism CTD PMID:11938814, PMID:11849406 RGD:11036089 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Apoa1 apolipoprotein A1 treatment ISO protein:decreased expression:blood
protein:increased expression, increased glycation:plasma
associated with Hyperlipidemias
RGD PMID:22515595, PMID:18079481, PMID:20488818 RGD:7241208, RGD:7241576, RGD:7241571 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Apoc2 apolipoprotein C2 ISO associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:8139482 RGD:2313968 NCBI chr 1:80,589,023...80,593,991
Ensembl chr 1:80,589,023...80,594,136
JBrowse link
G Apoc3 apolipoprotein C3 ISO associated with Diabetes Mellitus, Insulin-Dependent
protein:increased expression: :
RGD PMID:8139482, PMID:10822722 RGD:2313968, RGD:7207212 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
JBrowse link
G Apoe apolipoprotein E ISO protein:increased expression:serum (human) RGD PMID:21705678, PMID:21332332 RGD:6903287, RGD:6904217 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Arg2 arginase 2 IEP protein:decreased activity:kidney (rat) RGD PMID:16809898 RGD:4110828 NCBI chr 6:102,311,097...102,338,406
Ensembl chr 6:102,311,116...102,338,520
JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IDA RGD PMID:20424483 RGD:11522730 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bdkrb1 bradykinin receptor B1 resistance
no_association
ISO DNA: SNP: G-699-->C
DNA: SNP: G(-699)C
RGD PMID:9555662, PMID:10604543, PMID:10809796 RGD:7241560, RGD:7241582, RGD:7241561 NCBI chr 6:129,437,423...129,441,553
Ensembl chr 6:129,438,158...129,440,574
JBrowse link
G Becn1 beclin 1 IEP protein:increased expression:kidney RGD PMID:24090408 RGD:11561926 NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO
IEP
protein:increased expression:serum RGD PMID:20845051, PMID:17365904 RGD:7207235, RGD:7207409 NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
JBrowse link
G Bnip3 BCL2 interacting protein 3 IEP protein:increased expression:kidney RGD PMID:24090408 RGD:11561926 NCBI chr 1:211,248,098...211,265,282
Ensembl chr 1:211,248,098...211,265,282
JBrowse link
G C6 complement C6 severity IAGP RGD PMID:11912252 RGD:1600675 NCBI chr 2:54,460,333...54,533,801
Ensembl chr 2:54,466,280...54,533,797
JBrowse link
G Casr calcium-sensing receptor ISO protein:decreased expression:epigastric artery (human) RGD PMID:17537980 RGD:7205455 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
JBrowse link
G Cat catalase IEP
ISO
protein: decreased expression :kidney
CTD Direct Evidence: marker/mechanism
CTD PMID:16518626 PMID:19420110, PMID:20007347 RGD:6892947 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Cbr1 carbonyl reductase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26282591 NCBI chr11:33,813,041...33,815,418
Ensembl chr11:33,845,463...33,847,793
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 susceptibility
treatment
ISO
IDA
IEP
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:-2518A>G (human)
CTD Direct Evidence: marker/mechanism
protein:increased expression:renal proximal tubule (rat)
CTD PMID:19420110 PMID:19539174, PMID:17982227, PMID:18797164, PMID:12080327 RGD:2306990, RGD:2307007, RGD:8549739 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO RGD PMID:22613545 RGD:7175169 NCBI chr10:70,869,516...70,871,066
Ensembl chr10:70,869,513...70,871,066
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 IEP mRNA:increased expression:kidney cortex (rat) RGD PMID:19535570 RGD:4889989 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO associated with Candidiasis, Invasive; RGD PMID:22916017 RGD:7241817 NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 IEP mRNA:increased expression:kidney cortex (rat) RGD PMID:19535570 RGD:4889989 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd40 CD40 molecule treatment
severity
ISO protein:increased expression:plasma RGD PMID:12941150, PMID:20846521 RGD:7248709, RGD:7248723 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:plasma RGD PMID:19019166 RGD:7248427 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cd68 Cd68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:19539174 NCBI chr10:56,268,726...56,270,605
Ensembl chr10:56,268,720...56,270,640
JBrowse link
G Cfb complement factor B severity ISO RGD PMID:17522263, PMID:1837062 RGD:7242704, RGD:7242753 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: End-stage renal failure ClinVar PMID:28603918 PMID:30311386 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
G Chga chromogranin A ISO protein:increased expression:serum
associated with Hypertension;DNA:polymorphisms, haplotypes:promoter, 3' utr:multiple
RGD PMID:20730520, PMID:18235090 RGD:6906898, RGD:6906903 NCBI chr 6:126,434,226...126,445,569
Ensembl chr 6:126,434,226...126,445,568
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO RGD PMID:25782334 RGD:11041185 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO DNA:polymorphism: :p.I1205V (human) RGD PMID:19424605 RGD:7257553 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO RGD PMID:19357112 RGD:7242047 NCBI chr 9:88,357,528...88,484,735
Ensembl chr 9:88,357,556...88,485,830
JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: End-stage renal failure
ClinVar Annotator: match by term: Chronic renal failure
ClinVar PMID:24033266 PMID:25741868, PMID:19357112 RGD:7242047 NCBI chr 9:88,314,763...88,357,183
Ensembl chr 9:88,232,455...88,357,182
JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: End-stage renal failure ClinVar PMID:30311386 NCBI chr  X:112,769,595...112,983,720
Ensembl chr  X:112,769,645...112,983,685
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19878707 NCBI chr 1:218,568,157...218,629,679
Ensembl chr 1:218,569,510...218,629,678
JBrowse link
G Crp C-reactive protein disease_progression ISO protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
CTD PMID:19539174, PMID:22865783 RGD:6906886 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Csf1 colony stimulating factor 1 ISO protein:increased expression:plasma RGD PMID:11340249 RGD:7257586 NCBI chr 2:210,522,370...210,550,546
Ensembl chr 2:210,522,375...210,550,560
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO associated with Wegener Granulomatosis;DNA:polymorphisms:promoter,exon::-318C>T, (AT)repeats (human) RGD PMID:15708894 RGD:7204725 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Cxcr1 C-X-C motif chemokine receptor 1 ISO RGD PMID:20649681 RGD:7207863 NCBI chr 9:81,466,430...81,469,299
Ensembl chr 9:81,466,332...81,469,274
JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 ISO DNA:polymorphism: :1208C>T (human) RGD PMID:23615182 RGD:7257672 NCBI chr 9:81,427,275...81,435,065
Ensembl chr 9:81,427,730...81,434,102
JBrowse link
G Cyba cytochrome b-245 alpha chain IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:19420110, PMID:19420110 RGD:2306994 NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
JBrowse link
G Cybb cytochrome b-245 beta chain IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:19420110, PMID:15550752 RGD:1599682 NCBI chr  X:14,578,330...14,610,049
Ensembl chr  X:14,578,264...14,612,547
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO
IEP
DNA:polymorphisms:exon, 3' utr:3801T>C (rs4646903), p.I462V (rs1048943) (human)
mRNA, protein:decreased expression:intestine
RGD PMID:23619522, PMID:12039987 RGD:7257728, RGD:7296923 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15248218 NCBI chr 1:83,163,103...83,236,615
Ensembl chr 1:83,163,079...83,236,615
JBrowse link
G Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 IEP RGD PMID:11158222, PMID:8531418 RGD:6903939, RGD:6903940 NCBI chr 1:257,676,172...258,004,428
Ensembl chr 1:257,970,345...258,004,434
JBrowse link
G Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15248218 NCBI chr 1:147,713,879...147,814,410
Ensembl chr 1:147,713,892...147,888,007
JBrowse link
G Cyp2c79 cytochrome P450, family 2, subfamily c, polypeptide 79 ISO DNA:polymorphisms: : RGD PMID:18769365 RGD:7243146 NCBI chr 1:147,236,480...147,307,988 JBrowse link
G Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 IEP mRNA, protein:decreased expression:intestine RGD PMID:12039987 RGD:7296923 NCBI chr12:11,641,500...11,677,818
Ensembl chr12:11,655,402...11,733,136
JBrowse link
G Ddc dopa decarboxylase IEP protein:altered activity:renal cortex (rat) RGD PMID:19167406 RGD:5128880 NCBI chr14:91,905,919...91,996,816
Ensembl chr14:91,905,919...91,996,774
JBrowse link
G Drd1 dopamine receptor D1 treatment IDA RGD PMID:18402547 RGD:7248448 NCBI chr17:11,099,736...11,104,352
Ensembl chr17:11,101,306...11,103,541
JBrowse link
G Drd2 dopamine receptor D2 ISO associated with Diabetes Mellitus, Non-Insulin Dependent; DNA:polymorphisms:5'utr, intron: -141delC, G>A (human) RGD PMID:18366720 RGD:2311602 NCBI chr 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
JBrowse link
G Edn1 endothelin 1 IEP mRNA:increased expression:kidney (rat) RGD PMID:8441230 RGD:4144849 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO Associated with Type 2 diabetes RGD PMID:18184924 RGD:6906927 NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
JBrowse link
G Ephx2 epoxide hydrolase 2 disease_progression ISO RGD PMID:20694143 RGD:5688726 NCBI chr15:42,757,241...42,794,211
Ensembl chr15:42,757,235...42,794,279
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:16707910 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Epor erythropoietin receptor IEP protein:decreased expression:heart RGD PMID:27468524 RGD:11532749 NCBI chr 8:22,969,737...22,974,468
Ensembl chr 8:22,969,745...22,974,321
JBrowse link
G F2 coagulation factor II treatment IDA RGD PMID:22473220 RGD:7387323 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F5 coagulation factor V ISO DNA:mutation: :1691G>A(human) RGD PMID:19520684 RGD:6893522 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Fabp1 fatty acid binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19878707 NCBI chr 4:99,063,181...99,066,957
Ensembl chr 4:99,063,181...99,066,954
JBrowse link
G Fabp2 fatty acid binding protein 2 ISO DNA:polymorphism:CDS:amino acid A54T, associated with Diabetes Mellitus, Type 2 (MeSH:D003924) RGD PMID:16249461 RGD:1578457 NCBI chr 2:227,080,912...227,083,654
Ensembl chr 2:227,080,924...227,083,501
JBrowse link
G Fasn fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19878707 NCBI chr10:109,987,735...110,005,901
Ensembl chr10:109,987,735...110,005,901
JBrowse link
G Fcgr2b Fc fragment of IgG receptor IIb ISO RGD PMID:15266033 RGD:7240530 NCBI chr13:89,329,298...89,343,916
Ensembl chr13:89,327,794...89,433,815
JBrowse link
G Fgb fibrinogen beta chain treatment ISO associated with hypertension;DNA:polymorphism: :-455G>A (human) RGD PMID:19352213 RGD:7175505 NCBI chr 2:182,028,044...182,035,026
Ensembl chr 2:182,027,115...182,038,178
JBrowse link
G Fn1 fibronectin 1 ISO protein:decreased expression:plasma RGD PMID:6665521 RGD:7205701 NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078
JBrowse link
G Gata3 GATA binding protein 3 ISO ClinVar Annotator: match by term: Chronic renal failure
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 PMID:26970513 NCBI chr17:72,419,752...72,452,043
Ensembl chr17:72,429,618...72,450,681
JBrowse link
G Gckr glucokinase regulator ISO DNA: snp: rs1260326 RGD PMID:21980298 RGD:7242279 NCBI chr 6:26,355,296...26,385,761
Ensembl chr 6:26,355,296...26,385,761
JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO RGD PMID:18809976 RGD:7242553 NCBI chr 4:145,674,157...145,678,066
Ensembl chr 4:145,674,157...145,678,066
JBrowse link
G Glo1 glyoxalase 1 severity ISO DNA:SNP: :419C>A (human) RGD PMID:20185929 RGD:7242570 NCBI chr20:9,273,589...9,291,608
Ensembl chr20:9,273,594...9,291,610
JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:increased activity:blood:
protein:increased activity:lymphocyte:
RGD PMID:20181004, PMID:6463365 RGD:7257547, RGD:7257560 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:24339523 RGD:14700960 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO associated with Diabetes Mellitus;DNA:deletion RGD PMID:15492856 RGD:2306631 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Gtpbp4 GTP binding protein 4 IDA RGD PMID:11316846 RGD:632611 NCBI chr17:63,111,086...63,145,618
Ensembl chr17:63,110,254...63,145,577
JBrowse link
G Guca2b guanylate cyclase activator 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15780094 NCBI chr 5:138,695,591...138,697,641
Ensembl chr 5:138,695,591...138,697,641
JBrowse link
G Hamp hepcidin antimicrobial peptide IEP
ISO
mRNA:increased expression:liver
CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma
CTD PMID:16929540, PMID:20631677, PMID:19212416 RGD:11041611, RGD:11041622 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
JBrowse link
G Hbegf heparin-binding EGF-like growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21937979 NCBI chr18:29,330,302...29,340,185
Ensembl chr18:29,329,764...29,340,403
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase IMP
ISO
associated with Hypertension
CTD Direct Evidence: marker/mechanism
CTD PMID:19878707, PMID:21119529 RGD:5508686 NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:22622455 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP protein:increased expression:kidney (rat) RGD PMID:20820841 RGD:4145364 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:10198369 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Il1a interleukin 1 alpha no_association ISO DNA:SNP
DNA:SNPs, deletion, haplotypes:3' utr:multiple (human)
DNA:SNP, insertion/deletion:intron, 3' utr:rs1516792-3, rs16347-2 (human)
RGD PMID:20551628, PMID:12631337, PMID:12837270 RGD:6907070, RGD:6907106, RGD:6907105 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta no_association ISO
IEP
IDA
DNA:SNP
protein:increased expression:plasma (rat)
RGD PMID:20551628, PMID:20199183, PMID:22031851 RGD:6907070, RGD:7175346, RGD:7175302 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist disease_progression
susceptibility
ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)
DNA:repeats:intron:IVS2+914_1000dup IL1RN*1 (human)
protein:increased expression:serum (human)
DNA:polymorphism:exon:g.14709C>T rs315952 (human)
DNA:polymorphism:intron:IVS6+327A>G rs452204 (human)
RGD PMID:17224277, PMID:16766392, PMID:16556139, PMID:12837270, PMID:20551628 RGD:6907131, RGD:6907370, RGD:6907368, RGD:6907105, RGD:6907070 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il20 interleukin 20 IEP protein:increased expression:multiple organs RGD PMID:18639518 RGD:5147394 NCBI chr13:47,644,071...47,651,487
Ensembl chr13:47,644,071...47,647,715
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19539174 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Irs1 insulin receptor substrate 1 IDA protein:decreased tyrosine phosphorylation:aorta RGD PMID:22942179 RGD:7207055 NCBI chr 9:88,033,668...88,086,488
Ensembl chr 9:88,033,668...88,086,488
JBrowse link
G Itga8 integrin subunit alpha 8 ISO associated with Polycystic Kidney, Autosomal Dominant;DNA:polymorphism: :-414T>C(human) RGD PMID:18277079 RGD:7257723 NCBI chr17:79,321,893...79,676,927
Ensembl chr17:79,321,900...79,676,499
JBrowse link
G Itgb3 integrin subunit beta 3 ISO associated with Hypertension;DNA:polymorphism RGD PMID:19368146 RGD:6907396 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
G Keap1 Kelch-like ECH-associated protein 1 IEP protein:increased expression:renal cortex, cytosol (rat) RGD PMID:20007347 RGD:6892947 NCBI chr 8:22,250,518...22,259,868
Ensembl chr 8:22,250,518...22,259,779
JBrowse link
G Kl Klotho ISO
IEP
mRNA,protein:decreased expression:kidney:
mRNA:decreased expression:kidney:
RGD PMID:11162628, PMID:9731228 RGD:10403042, RGD:10403067 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
JBrowse link
G Klk1 kallikrein 1 ISO RGD PMID:11849458 RGD:1581753 NCBI chr 1:100,131,562...100,135,556
Ensembl chr 1:100,059,967...100,203,329
Ensembl chr 1:100,059,967...100,203,329
Ensembl chr 1:100,059,967...100,203,329
JBrowse link
G Lcat lecithin cholesterol acyltransferase IDA RGD PMID:15280162 RGD:1581769 NCBI chr19:37,913,333...37,916,799
Ensembl chr19:37,913,336...37,916,813
JBrowse link
G Lcn2 lipocalin 2 onset ISO protein:increased expression:urine: RGD PMID:22542304 RGD:7245503 NCBI chr 3:11,414,189...11,417,534
Ensembl chr 3:11,414,186...11,417,546
JBrowse link
G Lep leptin ISO protein:increased expression:serum (human) RGD PMID:9294834 RGD:10053636 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Lipc lipase C, hepatic type IDA protein, mRNA:decreased expression:hepatocytes, liver (rat) RGD PMID:8636395 RGD:2308788 NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
JBrowse link
G Lpin1 lipin 1 IEP mRNA:increased expression:skeletal muscle RGD PMID:14718385 RGD:1641826 NCBI chr 6:41,796,214...41,905,149
Ensembl chr 6:41,799,749...41,870,046
JBrowse link
G Lpl lipoprotein lipase IEP RGD PMID:22009636 RGD:6909179 NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
JBrowse link
G Lrp2 LDL receptor related protein 2 IEP mRNA:decreased expression:kidney RGD PMID:15266031 RGD:1641836 NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551
JBrowse link
G Mbl2 mannose binding lectin 2 ISO associated with Lupus Erythematosus, Systemic;DNA:polymorphisms RGD PMID:16801331 RGD:6903261 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mlxipl MLX interacting protein-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:19878707 NCBI chr12:24,590,645...24,619,639 JBrowse link
G Mmp1 matrix metallopeptidase 1 severity
no_association
ISO DNA:insertion, haplotype:promoter:g.-1607insG (human)
DNA:insertion:promoter:g.-1607insG (human)
RGD PMID:19221176, PMID:22401717 RGD:7207064, RGD:7206856 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp10 matrix metallopeptidase 10 ISO associated with Hypertension; protein:increased expression:plasma (human) RGD PMID:19886850 RGD:7207051 NCBI chr 8:5,734,348...5,742,243
Ensembl chr 8:5,734,348...5,742,243
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO associated with Hypertension; protein:increased expression:plasma (human) RGD PMID:19886850 RGD:7207051 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp3 matrix metallopeptidase 3 severity ISO DNA:insertion, haplotype:promoter:g.-1613insA (human) RGD PMID:19221176 RGD:7207064 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Mpo myeloperoxidase disease_progression ISO RGD PMID:20638167 RGD:6909184 NCBI chr10:75,087,892...75,098,260
Ensembl chr10:75,087,892...75,098,260
JBrowse link
G Msr1 macrophage scavenger receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19878707 NCBI chr16:56,817,714...56,900,025
Ensembl chr16:56,813,791...56,900,052
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility
severity
no_association
ISO DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)
DNA:SNP: :677C>T(human)
DNA:transitions, transversion, haplotype:cds:g.677C>T, g.1298A>C, g.1793G>A (human)
associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human)
RGD PMID:19520684, PMID:25664255, PMID:17899317, PMID:14737040, PMID:19520069 RGD:6893522, RGD:14696732, RGD:6893579, RGD:6893524, RGD:6893523 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mtor mechanistic target of rapamycin kinase treatment IMP RGD PMID:22427849 RGD:10040968 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Myh9 myosin, heavy chain 9 ISO associated with hypertension, glomerulosclerosis, focal segmental;DNA:SNPs: :rs4821480, rs2032487, rs4821481(human)
CTD Direct Evidence: marker/mechanism
associated with diabetes mellitus, type 2;DNA:SNPs: :
DNA:SNPs:multiple:
associated with hypertension;DNA:polymorphisms:multiple:
associated with diabetes mellitus,type 2;DNA:SNPs: :
CTD PMID:18794854 PMID:18794856, PMID:18794854, PMID:21968013, PMID:20144966, PMID:19177153, PMID:19567477 RGD:6903237, RGD:6903256, RGD:6903243, RGD:6903239, RGD:6903238 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
JBrowse link
G Nat2 N-acetyltransferase 2 IEP mRNA,protein:decreased expression:liver: RGD PMID:20007296 RGD:11533637 NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19420110 NCBI chr12:25,497,104...25,506,300
Ensembl chr12:25,497,104...25,506,300
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19420110 NCBI chr 2:240,773,520...240,890,053
Ensembl chr 2:240,773,456...240,866,689
JBrowse link
G Ngf nerve growth factor treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:24244623, PMID:19169037 RGD:7242783 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
G Nos1 nitric oxide synthase 1 treatment IEP
IDA
protein:decreased expression:kidney cortex RGD PMID:17200156, PMID:23185775 RGD:1642147, RGD:7257669 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility IEP
ISO
protein:decreased expression:glomerulus
DNA:duplication, snp:intron, cds:g.IVS4?-?+27, p.E298D (human)
RGD PMID:18089446, PMID:12701818 RGD:2292109, RGD:7777097 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: End-stage renal failure ClinVar PMID:30311386 NCBI chr 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215
JBrowse link
G Nox4 NADPH oxidase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19420110 NCBI chr 1:150,796,359...150,976,186
Ensembl chr 1:150,797,084...150,976,194
JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin disease_progression IEP mRNA;increased expression:urine (rat) RGD PMID:19389856 RGD:38599006 NCBI chr 1:88,922,346...88,950,560
Ensembl chr 1:88,922,433...88,950,559
JBrowse link
G Nppb natriuretic peptide B ISO protein:increased expression:plasma: RGD PMID:7606877 RGD:7246912 NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
JBrowse link
G Nppc natriuretic peptide C ISO protein:increased expression:plasma
protein:increased expression:plasma (human)
RGD PMID:8117275, PMID:8743538 RGD:1642297, RGD:1580770 NCBI chr 9:93,731,436...93,735,636
Ensembl chr 9:93,731,436...93,735,636
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 IEP RGD PMID:18591458 RGD:7174716 NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
JBrowse link
G Olr1 oxidized low density lipoprotein receptor 1 IEP mRNA, protein:increased expression:kidney (rat) RGD PMID:12661921 RGD:1580992 NCBI chr 4:163,239,853...163,261,937
Ensembl chr 4:163,239,849...163,261,958
JBrowse link
G Pax2 paired box 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16631587 NCBI chr 1:264,493,579...264,585,073
Ensembl chr 1:264,504,591...264,583,329
JBrowse link
G Pgf placental growth factor IEP RGD PMID:16543713 RGD:1642390 NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Chronic renal failure
ClinVar Annotator: match by term: End-stage renal failure
ClinVar PMID:25741868 PMID:30311386 NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008
JBrowse link
G Pla2g7 phospholipase A2 group VII ISO plasma:increased expression:plasma RGD PMID:16421163 RGD:7248787 NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
JBrowse link
G Plau plasminogen activator, urokinase treatment
severity
ISO
IEP
protein:increased expression, increased activity:kidney (rat)
protein:increased expression:plasma (human)
RGD PMID:19926968, PMID:15506291, PMID:17869326, PMID:22683425 RGD:6483806, RGD:7241279, RGD:7241218, RGD:7241081 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Plaur plasminogen activator, urokinase receptor ISO RGD PMID:19926968 RGD:6483806 NCBI chr 1:81,328,171...81,344,954
Ensembl chr 1:81,328,183...81,344,708
JBrowse link
G Postn periostin IEP mRNA,protein:increased expression,increased secretion:kidney,urine: RGD PMID:22167593 RGD:10040972 NCBI chr 2:143,656,820...143,688,087
Ensembl chr 2:143,656,793...143,688,087
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19878707 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma disease_progression ISO associated with Diabetes Mellitus, Insulin-Dependent;DNA:SNP: :p.P12A (human) RGD PMID:18467141 RGD:2301857 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Ptger4 prostaglandin E receptor 4 treatment IMP RGD PMID:16871242 RGD:10003092 NCBI chr 2:54,951,625...54,966,470
Ensembl chr 2:54,952,821...54,963,448
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19420110 NCBI chr 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19420110 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Pth parathyroid hormone severity IEP
ISO
protein:increased expression:serum (rat)
protein:increased expression:serum (human)
RGD PMID:23548814, PMID:23243213 RGD:7242564, RGD:7242692 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit IEP
ISO
protein:increased expression:kidney
CTD Direct Evidence: marker/mechanism
CTD PMID:19420110, PMID:18077597 RGD:2298859 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
JBrowse link
G Retn resistin severity ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD PMID:19539174, PMID:22421264 RGD:7207074 NCBI chr12:2,201,909...2,203,649
Ensembl chr12:2,201,891...2,204,249
JBrowse link
G Rnls renalase, FAD-dependent amine oxidase ISO protein:decreased expression:plasma: RGD PMID:15841207 RGD:7327153 NCBI chr 1:251,828,285...252,101,963
Ensembl chr 1:251,828,290...252,100,759
JBrowse link
G Scarb1 scavenger receptor class B, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19878707 NCBI chr12:36,694,952...36,761,445
Ensembl chr12:36,694,960...36,761,455
JBrowse link
G Sell selectin L no_association ISO RGD PMID:22119815 RGD:7175303 NCBI chr13:82,369,820...82,387,774
Ensembl chr13:82,369,493...82,387,631
JBrowse link
G Serpine1 serpin family E member 1 treatment IDA
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:19420110, PMID:26903149 RGD:11073683 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Slc22a2 solute carrier family 22 member 2 IEP protein:decreased expression:kidney, plasma membrane RGD PMID:23280877, PMID:12110012 RGD:7243177, RGD:7243883 NCBI chr 1:48,318,025...48,360,219
Ensembl chr 1:48,317,995...48,360,261
JBrowse link
G Slc34a1 solute carrier family 34 member 1 IEP mRNA:decreased expression:renal cortex (rat) RGD PMID:15452708 RGD:7242930 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
G Slc9a5 solute carrier family 9 member A5 resistance ISO DNA:polymorphism RGD PMID:10642288 RGD:1643221 NCBI chr19:37,304,034...37,325,345
Ensembl chr19:37,305,248...37,325,335
JBrowse link
G Soat2 sterol O-acyltransferase 2 IDA RGD PMID:12217884 RGD:625687 NCBI chr 7:143,754,892...143,767,989
Ensembl chr 7:143,754,892...143,767,989
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19878707 NCBI chr10:46,570,996...46,593,021
Ensembl chr10:46,570,996...46,593,009
JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 IEP
ISO
mRNA, protein:increased expression:liver
CTD Direct Evidence: marker/mechanism
CTD PMID:19878707, PMID:16814791 RGD:2308825 NCBI chr 7:123,381,082...123,438,605
Ensembl chr 7:123,381,077...123,438,603
JBrowse link
G Tbx21 T-box transcription factor 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26970513 NCBI chr10:85,032,799...85,049,331
Ensembl chr10:85,032,799...85,049,331
JBrowse link
G Tgfb1 transforming growth factor, beta 1 IEP
ISO
mRNA, protein:increased expression:kidney
CTD Direct Evidence: marker/mechanism
CTD PMID:19420110, PMID:10919844 RGD:7394838 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Thbd thrombomodulin ISO protein:increased expression:plasma RGD PMID:22129968, PMID:21873362 RGD:5684979, RGD:5684981 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
G Tlr2 toll-like receptor 2 ISO RGD PMID:20729266 RGD:7240546 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr4 toll-like receptor 4 ISO RGD PMID:20729266 RGD:7240546 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: End-stage renal failure ClinVar PMID:10508989 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:19778711 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25729630 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:27491411 PMID:28492532 PMID:30311386 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
G Tnf tumor necrosis factor ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
CTD PMID:19539174, PMID:22266663 RGD:7245510 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B severity ISO RGD PMID:21479768 RGD:7205485 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma RGD PMID:22266663 RGD:7245510 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma RGD PMID:22266663 RGD:7245510 NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
JBrowse link
G Ucp2 uncoupling protein 2 susceptibility ISO DNA:polymorphism: :-866G>A (human)
DNA:deletion
RGD PMID:19406964, PMID:18242170 RGD:7175298, RGD:7175299 NCBI chr 1:165,506,375...165,512,744
Ensembl chr 1:165,506,361...165,512,744
JBrowse link
G Umod uromodulin ISO ClinVar Annotator: match by term: End-stage renal failure ClinVar PMID:30311386 NCBI chr 1:189,186,027...189,199,939
Ensembl chr 1:189,186,026...189,199,376
JBrowse link
G Vwf von Willebrand factor disease_progression
treatment
ISO protein:increased oxidation:plasma RGD PMID:22189209, PMID:21378155, PMID:22091998 RGD:7205641, RGD:7205649, RGD:7205646 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
Frasier syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Frasier syndrome
ClinVar Annotator: match by OMIM:136680
OMIM
ClinVar
PMID:1302008 PMID:1658787 PMID:7795587 PMID:8388765 PMID:9108089 PMID:9398852 PMID:9499425 PMID:9529364 PMID:10094551 PMID:10571943 PMID:10762296 PMID:12050205 PMID:12471221 PMID:15150775 PMID:19484379 PMID:20442690 PMID:21508141 PMID:21851196 PMID:23117548 PMID:23295293 PMID:23515051 PMID:24033266 PMID:24161391 PMID:24856380 PMID:25741868 PMID:25818337 PMID:27719739 PMID:28204945 PMID:28492532 PMID:29668062 PMID:32581362 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
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Term paths to the root
Path 1
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  disease 16035
    disease of anatomical entity 15289
      Urogenital Diseases 4157
        urinary system disease 2075
          kidney disease 1863
            kidney failure 493
              chronic kidney disease 244
                end stage renal disease 181
                  Frasier syndrome 1
                  Nephropathy Deafness Hyperparathyroidism 0
                  Progressive Nephropathy with Deafness 0
paths to the root