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: chronic kidney disease
Accession: DOID:784
browse the term
Definition: A kidney failure that is characterized by the gradual loss of kidney function. (DO)
Synonyms: exact_synonym: CKD; CRF; chronic kidney diseases; chronic kidney insufficiencies; chronic kidney insufficiency; chronic renal disease; chronic renal diseases; chronic renal failure; chronic renal failure syndrome; chronic renal insufficiencies; chronic renal insufficiency
narrow_synonym: congenital chronic kidney disease
primary_id: MESH:D051436
xref: EFO:0003884 ; EFO:0021433 ; ICD10CM:N18.9 ; NCI:C80078 ; NCI:C9438
For additional species annotation, visit the
Alliance of Genome Resources .
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Actn4
actinin alpha 4
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868
NCBI chr 1:84,182,783...84,251,867
Ensembl chr 1:84,182,788...84,251,847
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Ager
advanced glycosylation end product-specific receptor
disease_progression susceptibility severity
ISO
DNA:polymorphism:promoter:g.-374T>A (human) protein:increased expression:serum (human) associated with Diabetes Mellitus, Type 2; DNA:polymorphism:promoter:g.-429T>C (human) DNA:polymorphisms:promoter, intron:g.-429T>C, g.2184A>G (human)
RGD
PMID:23593165 PMID:21822023 PMID:21432860 PMID:20353610 PMID:20185929
RGD:7243185 , RGD:7243867 , RGD:7243958 , RGD:7244142 , RGD:7242570
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Agtr1a
angiotensin II receptor, type 1a
disease_progression
IMP ISO
DNA:polymorphism:3' utr:1166A>C (human)
RGD
PMID:12089373 PMID:12832734
RGD:6903863 , RGD:8548869
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Agtr2
angiotensin II receptor, type 2
IMP
RGD
PMID:12089373
RGD:6903863
NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057
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Ahr
aryl hydrocarbon receptor
ISO
mRNA, protein:increased expression:heart (mouse)
RGD
PMID:31746392
RGD:401793746
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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Akap12
A-kinase anchoring protein 12
susceptibility
ISO
DNA:polymorphism: :rs756009(human)
RGD
PMID:19724895
RGD:14349027
NCBI chr 1:40,730,123...40,819,863
Ensembl chr 1:40,730,123...40,819,886
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Anln
anillin, actin binding protein
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:20,858,227...20,921,602
Ensembl chr 8:20,858,228...20,921,538
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Aoc3
amine oxidase, copper containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23154672
NCBI chr10:86,272,757...86,280,702
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Apoa1
apolipoprotein A1
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Apoa4
apolipoprotein A4
disease_progression
ISO
protein:increased expression:blood plasma (human)
RGD
PMID:21569504
RGD:5685637
NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
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Apoc3
apolipoprotein C3
ISO
protein:increased expression:plasma
RGD
PMID:21829457 PMID:21297177
RGD:7207207 , RGD:7207209
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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Arhgdia
Rho GDP dissociation inhibitor alpha
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868
NCBI chr10:105,854,526...105,858,020
Ensembl chr10:105,854,533...105,858,023
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Atic
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889
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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:30655312 PMID:32581362 More...
NCBI chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172
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Azgp1
alpha-2-glycoprotein 1, zinc-binding
IEP ISO
protein:increased expression:white adipose tissue: protein:increased expression:plasma,white adipose tissue:
RGD
PMID:23423258 PMID:23423258
RGD:153352319 , RGD:153352319
NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091
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B2m
beta-2 microglobulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:37921072
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Cbr1
carbonyl reductase 1
IEP
mRNA, protein:decreased expression:liver
RGD
PMID:25332430
RGD:11565077
NCBI chr11:32,860,571...32,862,981
Ensembl chr11:32,908,950...32,911,393 Ensembl chr11:32,908,950...32,911,393 Ensembl chr11:32,908,950...32,911,393
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Cfh
complement factor H
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868
NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
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Cfhr1
complement factor H-related 1
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868
NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592
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Cfi
complement factor I
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:17084897 PMID:20301541 PMID:25741868 PMID:28492532
NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561
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Clu
clusterin
IEP
associated with Obesity;protein:increased expression:urine
RGD
PMID:24325231
RGD:9068427
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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Col4a1
collagen type IV alpha 1 chain
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868 PMID:28492532
NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
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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 PMID:29924831 PMID:30245029 PMID:32723786 More...
NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895
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Col4a4
collagen type IV alpha 4 chain
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:12028435 PMID:12325029 PMID:12631110 PMID:16467446 PMID:17942953 PMID:21196518 PMID:24046192 PMID:24052634 PMID:24854265 PMID:25307543 PMID:25741868 PMID:26346198 PMID:28492532 PMID:28704582 PMID:32723786 More...
NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
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Col6a3
collagen type VI alpha 3 chain
ISO
DNA:SNP:CDS:E1386K (rs146092501) (human)
RGD
PMID:30226566
RGD:401851058
NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
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Cpb2
carboxypeptidase B2
ISO
DNA:polymorphism:cds :p.A147T(rs3742264)(human)
RGD
PMID:19056482
RGD:7243119
NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556
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Cst3
cystatin C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32450046
NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
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Cubn
cubilin
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:15024727 PMID:22929189 PMID:24033266 PMID:25349199 PMID:25741868 PMID:28492532 PMID:31613795 PMID:34979989 More...
NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231
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Cyp1b1
cytochrome P450, family 1, subfamily b, polypeptide 1
ISO
mRNA, protein:increased expression:heart (mouse)
RGD
PMID:31746392
RGD:401793746
NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
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Dgat1
diacylglycerol O-acyltransferase 1
IEP
protein:decreased expression:liver:
RGD
PMID:23045433
RGD:10400847
NCBI chr 7:108,223,860...108,235,413
Ensembl chr 7:108,218,524...108,234,299
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Dgat2
diacylglycerol O-acyltransferase 2
IEP
protein:decreased expression:liver:
RGD
PMID:23045433
RGD:10400847
NCBI chr 1:153,454,078...153,484,432
Ensembl chr 1:153,454,080...153,484,428
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Dnm1l
dynamin 1-like
treatment
IEP
RGD
PMID:27801955
RGD:12738369
NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
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Dstyk
dual serine/threonine and tyrosine protein kinase
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868 PMID:28492532
NCBI chr13:43,857,266...43,905,280
Ensembl chr13:43,857,266...43,905,269
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Ehhadh
enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868 PMID:28492532
NCBI chr11:79,241,927...79,275,173
Ensembl chr11:79,241,938...79,275,188
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Etfb
electron transfer flavoprotein subunit beta
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:24215330 PMID:25741868 PMID:28492532
NCBI chr 1:93,851,908...93,866,072
Ensembl chr 1:93,851,858...93,866,068
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Fgf21
fibroblast growth factor 21
ISO
protein:increased expression:serum:
RGD
PMID:22494291
RGD:10401925
NCBI chr 1:96,083,360...96,084,911
Ensembl chr 1:96,083,441...96,090,454
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Fgf23
fibroblast growth factor 23
IEP
protein:increased expression:serum:
RGD
PMID:20016468
RGD:10044210
NCBI chr 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821
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Fis1
fission, mitochondrial 1
treatment
IEP
RGD
PMID:27801955
RGD:12738369
NCBI chr12:19,708,560...19,723,392
Ensembl chr12:19,708,558...19,723,377
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Fn1
fibronectin 1
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
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Frem1
Fras1 related extracellular matrix 1
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:97,321,266...97,469,523
Ensembl chr 5:97,322,538...97,469,543
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Ganab
glucosidase II alpha subunit
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:205,793,910...205,813,704
Ensembl chr 1:205,793,895...205,813,695
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Gja1
gap junction protein, alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32045570
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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Gp1ba
glycoprotein Ib platelet subunit alpha
exacerbates
ISO
RGD
PMID:11314805
RGD:42722629
NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
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Gpx1
glutathione peroxidase 1
treatment
ISO
DNA:SNP: :rs17080528 (human)
RGD
PMID:15954914 PMID:31924810
RGD:11352759 , RGD:401827826
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Grp
gastrin releasing peptide
IEP
mRNA, protein:increased expression:aorta, plasma (human)
RGD
PMID:32192106
RGD:329961569
NCBI chr18:59,388,679...59,402,061
Ensembl chr18:59,388,274...59,402,061
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Havcr1
hepatitis A virus cellular receptor 1
IEP
RGD
PMID:22269876
RGD:7245952
NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
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Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
IEP
mRNA, protein:increased expression:liver
RGD
PMID:12841361
RGD:1300058
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
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Hp
haptoglobin
IEP
protein:increased expression:serum
RGD
PMID:18569920
RGD:11041800
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Il19
interleukin 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24714768
NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473
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Il1b
interleukin 1 beta
ISO IDA
associated with Periodontitis; DNA:SNP:intron:g.3954C>T (human) protein:decreased expression:serum (human) mRNA:increased expression:kidney (mouse)
RGD
PMID:22795294 PMID:22728154 PMID:22613545 PMID:22398717 PMID:21975861
RGD:6906881 , RGD:7175095 , RGD:7175169 , RGD:7175171 , RGD:7175304
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
susceptibility
ISO
protein:increased expression:plasma (human) DNA:repeats:intron:IVS2+914_1000dup IL1RN*1 (human)
RGD
PMID:23024164 PMID:22795294
RGD:6906880 , RGD:6906881
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Inf2
inverted formin 2
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941
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Insr
insulin receptor
IDA
protein:decreased phosphorylation:aorta
RGD
PMID:22942179
RGD:7207055
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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Kl
Klotho
treatment disease_progression
IEP ISO
mRNA,protein:decreased expression:renal tubule, epithelial cell: protein:decreased expression:urine,plasma,kidney: protein:decreased expression:urine:
RGD
PMID:11967236 PMID:11967236 PMID:21115613 PMID:21115613
RGD:70544 , RGD:70544 , RGD:10403077 , RGD:10403077
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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Klk1
kallikrein 1
susceptibility
ISO
associated with Vesico-Ureteral Reflux
RGD
PMID:15086490
RGD:1581752
NCBI chr 1:94,642,644...94,646,760
Ensembl chr 1:94,642,687...94,646,754
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Lcn2
lipocalin 2
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24714768 PMID:20921623
RGD:126781837
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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Lepr
leptin receptor
IMP
RGD
PMID:27465994 PMID:32390513
RGD:12911217 , RGD:34888223
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Leprem2Mcwi
leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
IMP
RGD
PMID:32390513 PMID:27465994
RGD:34888223 , RGD:12911217
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Map3k7
mitogen activated protein kinase kinase kinase 7
IEP
protein:increased expression:aorta (rat)
RGD
PMID:32581266
RGD:155804294
NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
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Mas1
MAS1 proto-oncogene, G protein-coupled receptor
treatment
IEP
RGD
PMID:24614509
RGD:401793742
NCBI chr 1:47,879,956...47,911,500
Ensembl chr 1:47,880,309...47,911,709
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Mfn1
mitofusin 1
treatment
IEP
RGD
PMID:27801955
RGD:12738369
NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640
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Mt2A
metallothionein 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27122239
NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784
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Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:polymorphism:cds:g.677C>T (human)
RGD
PMID:23595572
RGD:7244284
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Myh9
myosin, heavy chain 9
no_association
ISO
RGD
PMID:22956460
RGD:12798515
NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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Nfe2l2
NFE2 like bZIP transcription factor 2
treatment
IEP
RGD
PMID:23174956
RGD:10412711
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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Ngf
nerve growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24244623
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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Nherf1
NHERF family PDZ scaffold protein 1
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:18784102 PMID:25741868 PMID:28492532
NCBI chr10:100,403,189...100,420,290
Ensembl chr10:100,403,069...100,420,598
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Nos3
nitric oxide synthase 3
susceptibility treatment
IEP
mRNA:decreased expression:cortex of kidney (rat)
RGD
PMID:29018182 PMID:29247650
RGD:13450920 , RGD:13504713
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Nphs1
NPHS1 adhesion molecule, nephrin
severity treatment
ISO
mRNA:increased expression:urine (human) human cells in rat model
RGD
PMID:30133147 PMID:33298161
RGD:38549368 , RGD:155631310
NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078
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Nphs2
NPHS2 stomatin family member, podocin
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:8589695 PMID:10742096 PMID:11729243 PMID:11805166 PMID:11854170 PMID:12649741 PMID:14570703 PMID:14675423 PMID:14978175 PMID:15253708 PMID:15327385 PMID:17371932 PMID:17942957 PMID:18216321 PMID:18443213 PMID:18823551 PMID:19371226 PMID:19406966 PMID:20798252 PMID:20947785 PMID:21171529 PMID:21355056 PMID:21415313 PMID:23242530 PMID:24089165 PMID:24227627 PMID:24500309 PMID:24509478 PMID:24742477 PMID:24856380 PMID:25349199 PMID:25741868 PMID:25852895 PMID:26467025 PMID:28492532 PMID:28780565 PMID:29049388 PMID:29127259 PMID:29382718 PMID:29982877 PMID:30655312 PMID:32129207 PMID:32581362 More...
NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313
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Nppa
natriuretic peptide A
disease_progression
ISO
protein:increased expression:plasma
RGD
PMID:19052536
RGD:7247723
NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
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Nppb
natriuretic peptide B
disease_progression
ISO
RGD
PMID:23725445
RGD:7246908
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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Nqo1
NAD(P)H quinone dehydrogenase 1
treatment
IDA
RGD
PMID:22227174
RGD:10769366
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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Nr4a1
nuclear receptor subfamily 4, group A, member 1
disease_progression
IMP
RGD
PMID:24722447
RGD:12910103
NCBI chr 7:132,368,399...132,389,300
Ensembl chr 7:132,374,840...132,389,297
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Nr4a1m1Mcwi
nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin
disease_progression
IMP
RGD
PMID:24722447
RGD:12910103
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Opa1
OPA1, mitochondrial dynamin like GTPase
treatment
IEP
RGD
PMID:27801955
RGD:12738369
NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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Pask
PAS domain containing serine/threonine kinase
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868
NCBI chr 9:93,844,275...93,886,036
Ensembl chr 9:93,844,278...93,885,111
G
Pax2
paired box 2
treatment
ISO
human cells in rat model
RGD
PMID:33298161
RGD:155631310
NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321
G
Pcsk2
proprotein convertase subtilisin/kexin type 2
IDA
RGD
PMID:18039782
RGD:6483556
NCBI chr 3:130,880,422...131,183,127
Ensembl chr 3:130,880,422...131,183,127
G
Pkd1
polycystin 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868
NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
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Postn
periostin
ISO
protein:increased secretion:urine: protein:increased expression:kidney:
RGD
PMID:22167593 PMID:22403621
RGD:10040972 , RGD:10041032
NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099
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Ppargc1a
PPARG coactivator 1 alpha
ISO
RGD
PMID:22648295
RGD:7242023
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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Pth
parathyroid hormone
severity treatment
ISO IEP IDA
associated with Diabetes Mellitus, Type 2; protein:increased expression:serum (human) protein:decreased expression:plasma (rat)
RGD
PMID:23528898 PMID:23467111 PMID:23345625 PMID:21826734 PMID:22517117
RGD:7242412 , RGD:7242418 , RGD:7242572 , RGD:7242935 , RGD:7242949
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
G
Rbp4
retinol binding protein 4
onset
ISO
associated with type 2 diabetes mellitus; protein:increased expression:blood serum (human)
RGD
PMID:21817822
RGD:329853323
NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
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Retn
resistin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22421264
NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620
G
Rnls
renalase, FAD-dependent amine oxidase
IEP
protein, activity:decreased expression:plasma, heart, kidney:
RGD
PMID:18299506
RGD:7327164
NCBI chr 1:231,037,481...231,309,855
Ensembl chr 1:231,037,486...231,309,823
G
Rtn3
reticulon 3
ISS
MouseDO
NCBI chr 1:204,612,675...204,669,212
Ensembl chr 1:204,612,675...204,669,275
G
Sall1
spalt-like transcription factor 1
treatment
ISO
human cells in rat model
RGD
PMID:33298161
RGD:155631310
NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705
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Serpina3n
serpin family A member 3N
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35635602
NCBI chr 6:123,323,623...123,331,181
Ensembl chr 6:123,323,629...123,332,433
G
Shh
sonic hedgehog signaling molecule
IEP ISO
mRNA, protein:increased expression:kidney
RGD
PMID:24744439 PMID:24744439
RGD:12859042 , RGD:12859042
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
G
Six2
SIX homeobox 2
treatment
ISO
human cells in rat model
RGD
PMID:33298161
RGD:155631310
NCBI chr 6:8,974,859...8,981,345
Ensembl chr 6:8,967,157...8,981,193
G
Slc19a1
solute carrier family 19 member 1
IEP
mRNA:decreased expression:multiple (rat)
RGD
PMID:21149507
RGD:7327184
NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
G
Slc19a2
solute carrier family 19 member 2
IEP
mRNA:decreased expression:liver, heart (rat)
RGD
PMID:21149507
RGD:7327184
NCBI chr13:76,601,975...76,616,175
Ensembl chr13:76,601,900...76,616,172
G
Slc19a3
solute carrier family 19 member 3
IEP
mRNA:decreased expression:liver, heart, jejunum (rat)
RGD
PMID:21149507
RGD:7327184
NCBI chr 9:84,275,722...84,299,368
Ensembl chr 9:84,277,024...84,299,337
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Slc34a1
solute carrier family 34 member 1
IEP ISO
mRNA:decreased expression:kidney (rat) DNA:snp:intron:IVS9+122A>G rs6420094 (human)
RGD
PMID:21826734 PMID:20383146
RGD:7242935 , RGD:7243100
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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Slc46a1
solute carrier family 46 member 1
IEP
mRNA:decreased expression:liver, heart, jejunum (rat)
RGD
PMID:21149507
RGD:7327184
NCBI chr10:63,361,504...63,367,940
Ensembl chr10:63,361,486...63,368,848
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Synpo
synaptopodin
treatment
ISO
human cells in rat model
RGD
PMID:33298161
RGD:155631310
NCBI chr18:54,048,299...54,106,388
Ensembl chr18:54,026,152...54,102,126
G
Tbx18
T-box transcription factor 18
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:88,652,054...88,680,081
Ensembl chr 8:88,652,054...88,680,058
G
Tert
telomerase reverse transcriptase
treatment
IDA
RGD
PMID:23013219
RGD:11038770
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
G
Tfcp2l1
transcription factor CP2-like 1
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:33097957
NCBI chr13:29,733,813...29,793,870
Ensembl chr13:29,733,840...29,793,870
G
Tlr9
toll-like receptor 9
susceptibility
ISS
DNA:SNPs:promoter, exon:g.-1237T>C, g.1635G>A (rs5743836, rs352140) (human, Han Chinese)
RGD
PMID:21908957
RGD:7246887
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
G
Ttc21b
tetratricopeptide repeat domain 21B
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903
G
Umod
uromodulin
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868
NCBI chr 1:173,816,341...173,829,681
Ensembl chr 1:173,816,339...173,830,302
G
Vcam1
vascular cell adhesion molecule 1
IEP ISO
protein:increased expression:kidney protein:increased expression:serum:
RGD
PMID:20820841 PMID:21111939
RGD:4145364 , RGD:7241036
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
G
Wnt9b
Wnt family member 9B
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:34145744
NCBI chr10:88,635,330...88,657,035
Ensembl chr10:88,635,331...88,657,035
G
Wt1
WT1 transcription factor
treatment
ISO
ClinVar Annotator: match by term: Chronic kidney disease human cells in rat model
ClinVar RGD
PMID:25741868 PMID:33298161
RGD:155631310
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
G
Xdh
xanthine dehydrogenase
treatment
IDA ISO
associated with Hypertension;DNA:SNP: :66292C>G (human)
RGD
PMID:22622455 PMID:18712049
RGD:7247640 , RGD:7247654
NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
G
Zfp423
zinc finger protein 423
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868 PMID:28492532 PMID:32723786
NCBI chr19:19,111,213...19,407,373
Ensembl chr19:19,110,238...19,407,373
G
Abca1
ATP binding cassette subfamily A member 1
ameliorates
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19878707 PMID:19878707
RGD:2326081
NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
G
Abcb1a
ATP binding cassette subfamily B member 1A
IEP
RGD
PMID:17135344
RGD:2301067
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
G
Abcb1b
ATP-binding cassette, sub-family B member 1B
IDA
RGD
PMID:17135344
RGD:2301067
NCBI chr 4:25,242,761...25,325,194
Ensembl chr 4:25,242,798...25,325,199
G
Abcc2
ATP binding cassette subfamily C member 2
IDA
RGD
PMID:17135344
RGD:2301067
NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
G
Abcc3
ATP binding cassette subfamily C member 3
IEP
protein:decreased expression:intestine
RGD
PMID:17135344
RGD:2301067
NCBI chr10:79,296,681...79,342,749
Ensembl chr10:79,296,693...79,342,595
G
Abcg1
ATP binding cassette subfamily G member 1
ISO IEP
CTD Direct Evidence: marker/mechanism protein:increased expression:kidney (rat)
CTD RGD
PMID:19878707 PMID:19878707
RGD:2326081
NCBI chr20:9,126,687...9,182,948
Ensembl chr20:9,126,687...9,182,948
G
Acat1
acetyl-CoA acetyltransferase 1
IEP ISO
protein:increased expression:kidney (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19878707 PMID:19878707
RGD:2326081
NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855
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 RGD
PMID:7593601 PMID:10099885 PMID:15118671 PMID:14586729 PMID:16385653 PMID:20149750 More...
RGD:1331525 , RGD:12879398 , RGD:8142355 , RGD:6903283
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
G
Adipoq
adiponectin, C1Q and collagen domain containing
IEP ISO
protein:increased expression:serum, urine CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19539174 PMID:24028144
RGD:8695941
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
G
Adipor1
adiponectin receptor 1
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19539174 PMID:24028144
RGD:8695941
NCBI chr13:45,859,461...45,879,248
Ensembl chr13:45,859,533...45,879,241
G
Adipor2
adiponectin receptor 2
IEP
RGD
PMID:24028144
RGD:8695941
NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
G
Adrb2
adrenoceptor beta 2
ISO
RGD
PMID:9730702
RGD:7175286
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
G
Ager
advanced glycosylation end product-specific receptor
ISO
protein:increased expression:serum (human)
RGD
PMID:21822023
RGD:7243867
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Agt
angiotensinogen
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057
G
Alb
albumin
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11938814 PMID:11849406
RGD:11036089
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
G
Alms1
ALMS1, centrosome and basal body associated protein
ISO
ClinVar Annotator: match by term: Stage 5 chronic kidney disease
ClinVar
PMID:17594715 PMID:24462884 PMID:25296579 PMID:25741868 PMID:26066530 PMID:26104972 PMID:27178444 PMID:28492532 PMID:32581362 More...
NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
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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 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Apoc2
apolipoprotein C2
ISO
associated with Diabetes Mellitus, Insulin-Dependent
RGD
PMID:8139482
RGD:2313968
NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476
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Apoc3
apolipoprotein C3
ISO
associated with Diabetes Mellitus, Insulin-Dependent protein:increased expression: :
RGD
PMID:8139482 PMID:10822722
RGD:2313968 , RGD:7207212
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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Apoe
apolipoprotein E
ISO
protein:increased expression:serum (human)
RGD
PMID:21705678 PMID:21332332
RGD:6903287 , RGD:6904217
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Arg2
arginase 2
IEP
protein:decreased activity:kidney (rat)
RGD
PMID:16809898
RGD:4110828
NCBI chr 6:97,936,002...97,961,379
Ensembl chr 6:97,936,002...97,961,378
G
Bcl2
BCL2, apoptosis regulator
treatment
IDA
RGD
PMID:20424483
RGD:11522730
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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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 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747
G
Becn1
beclin 1
IEP
protein:increased expression:kidney
RGD
PMID:24090408
RGD:11561926
NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
G
Bglap
bone gamma-carboxyglutamate protein
ISO IEP
protein:increased expression:serum
RGD
PMID:20845051 PMID:17365904
RGD:7207235 , RGD:7207409
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
G
Bnip3
BCL2 interacting protein 3
IEP
protein:increased expression:kidney
RGD
PMID:24090408
RGD:11561926
NCBI chr 1:193,708,164...193,725,348
Ensembl chr 1:193,708,167...193,725,359
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C6
complement C6
severity
IAGP
RGD
PMID:11912252
RGD:1600675
NCBI chr 2:53,846,028...53,921,279
Ensembl chr 2:53,851,985...53,921,275
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Casr
calcium-sensing receptor
ISO
protein:decreased expression:epigastric artery (human)
RGD
PMID:17537980
RGD:7205455
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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Cat
catalase
IEP ISO
protein: decreased expression :kidney CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16518626 PMID:19420110 PMID:20007347
RGD:6892947
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Cbr1
carbonyl reductase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26282591
NCBI chr11:32,860,571...32,862,981
Ensembl chr11:32,908,950...32,911,393 Ensembl chr11:32,908,950...32,911,393 Ensembl chr11:32,908,950...32,911,393
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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 RGD
PMID:19420110 PMID:19539174 PMID:17982227 PMID:18797164 PMID:12080327
RGD:2306990 , RGD:2307007 , RGD:8549739
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl3
C-C motif chemokine ligand 3
ISO
RGD
PMID:22613545
RGD:7175169
NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
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Ccl5
C-C motif chemokine ligand 5
IEP
mRNA:increased expression:kidney cortex (rat)
RGD
PMID:19535570
RGD:4889989
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Ccr1
C-C motif chemokine receptor 1
ISO
associated with Candidiasis, Invasive;
RGD
PMID:22916017
RGD:7241817
NCBI chr 8:123,556,286...123,561,841
G
Ccr5
C-C motif chemokine receptor 5
IEP
mRNA:increased expression:kidney cortex (rat)
RGD
PMID:19535570
RGD:4889989
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd2ap
CD2-associated protein
ISS
MouseDO
NCBI chr 9:18,086,744...18,182,744
Ensembl chr 9:18,086,984...18,182,199
G
Cd40
CD40 molecule
treatment severity
ISO
protein:increased expression:plasma
RGD
PMID:12941150 PMID:20846521
RGD:7248709 , RGD:7248723
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
ISO
protein:increased expression:plasma
RGD
PMID:19019166
RGD:7248427
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cd68
Cd68 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19539174
NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
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Cfb
complement factor B
severity
ISO
RGD
PMID:17522263 PMID:1837062
RGD:7242704 , RGD:7242753
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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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 6:121,696,051...121,707,399
Ensembl chr 6:121,696,051...121,707,398
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Col1a1
collagen type I alpha 1 chain
ISO
RGD
PMID:25782334
RGD:11041185
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Col3a1
collagen type III alpha 1 chain
ISO
DNA:polymorphism: :p.I1205V (human)
RGD
PMID:19424605
RGD:7257553
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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Col4a3
collagen type IV alpha 3 chain
ISO
RGD
PMID:19357112
RGD:7242047
NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895
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Col4a4
collagen type IV alpha 4 chain
ISO
ClinVar Annotator: match by term: Stage 5 chronic kidney disease
ClinVar RGD
PMID:24033266 PMID:25741868 PMID:28492532 PMID:19357112
RGD:7242047
NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
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Cpt1a
carnitine palmitoyltransferase 1A
ISO IEP
CTD Direct Evidence: marker/mechanism protein:decreased expression:kidney (rat)
CTD RGD
PMID:19878707 PMID:19878707
RGD:2326081
NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
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Crp
C-reactive protein
disease_progression
ISO
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19539174 PMID:22865783
RGD:6906886
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Csf1
colony stimulating factor 1
ISO
protein:increased expression:plasma
RGD
PMID:11340249
RGD:7257586
NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
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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 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Cxcr1
C-X-C motif chemokine receptor 1
ISO
RGD
PMID:20649681
RGD:7207863
NCBI chr 9:75,766,894...75,771,079
Ensembl chr 9:75,766,770...75,771,084
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Cxcr2
C-X-C motif chemokine receptor 2
ISO
DNA:polymorphism: :1208C>T (human)
RGD
PMID:23615182
RGD:7257672
NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
G
Cyba
cytochrome b-245 alpha chain
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19420110 PMID:19420110
RGD:2306994
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
G
Cybb
cytochrome b-245 beta chain
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19420110 PMID:15550752
RGD:1599682
NCBI chr X:13,358,101...13,392,570
Ensembl chr X:13,359,430...13,392,586
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 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
G
Cyp2b3
cytochrome P450, family 2, subfamily b, polypeptide 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15248218
NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143
G
Cyp2c11
cytochrome P450, subfamily 2, polypeptide 11
IEP
RGD
PMID:11158222 PMID:8531418
RGD:6903939 , RGD:6903940
NCBI chr 1:236,762,719...236,799,069
Ensembl chr 1:236,762,842...236,799,066
G
Cyp2c6
cytochrome P450, family 2, subfamily C, polypeptide 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15248218
NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
G
Cyp2c79
cytochrome P450, family 2, subfamily c, polypeptide 79
ISO
DNA:polymorphisms: :
RGD
PMID:18769365
RGD:7243146
G
Cyp3a2
cytochrome P450, family 3, subfamily a, polypeptide 2
IEP
mRNA, protein:decreased expression:intestine
RGD
PMID:12039987
RGD:7296923
NCBI chr12:9,207,978...9,230,064
Ensembl chr12:9,015,383...9,285,008
G
Ddc
dopa decarboxylase
IEP
protein:altered activity:renal cortex (rat)
RGD
PMID:19167406
RGD:5128880
NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208
G
Drd1
dopamine receptor D1
treatment
IDA
RGD
PMID:18402547
RGD:7248448
NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002
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 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875
G
Edn1
endothelin 1
IEP
mRNA:increased expression:kidney (rat)
RGD
PMID:8441230
RGD:4144849
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
G
Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
Associated with Type 2 diabetes
RGD
PMID:18184924
RGD:6906927
NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
G
Ephx2
epoxide hydrolase 2
disease_progression
ISO
RGD
PMID:20694143
RGD:5688726
NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615
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Epo
erythropoietin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16707910
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
G
Epor
erythropoietin receptor
IEP
protein:decreased expression:heart
RGD
PMID:27468524
RGD:11532749
NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
G
F2
coagulation factor II, thrombin
treatment
IDA
RGD
PMID:22473220
RGD:7387323
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
G
F5
coagulation factor V
ISO
DNA:mutation: :1691G>A(human)
RGD
PMID:19520684
RGD:6893522
NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317
G
Fabp1
fatty acid binding protein 1
ameliorates
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19878707 PMID:19878707
RGD:2326081
NCBI chr 4:103,191,015...103,194,791
Ensembl chr 4:103,191,006...103,194,788
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 2:211,040,032...211,044,089
Ensembl chr 2:211,040,032...211,044,089
G
Fasn
fatty acid synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19878707
NCBI chr10:106,072,093...106,090,259
Ensembl chr10:106,072,091...106,090,261
G
Fcgr2b
Fc gamma receptor 2B
ISO
RGD
PMID:15266033
RGD:7240530
NCBI chr13:83,191,253...83,207,778
Ensembl chr13:83,193,163...83,207,778
G
Fgb
fibrinogen beta chain
treatment
ISO
associated with hypertension;DNA:polymorphism: :-455G>A (human)
RGD
PMID:19352213
RGD:7175505
NCBI chr 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979
G
Fn1
fibronectin 1
ISO
protein:decreased expression:plasma
RGD
PMID:6665521
RGD:7205701
NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
G
Gata3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Stage 5 chronic kidney disease
CTD ClinVar
PMID:25741868 PMID:26970513
NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
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Gckr
glucokinase regulator
ISO
DNA: snp: rs1260326
RGD
PMID:21980298
RGD:7242279
NCBI chr 6:25,044,592...25,075,834
Ensembl chr 6:25,045,100...25,075,654
G
Ghrl
ghrelin and obestatin prepropeptide
ISO
RGD
PMID:18809976
RGD:7242553
NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621
G
Glo1
glyoxalase 1
severity
ISO
DNA:SNP: :419C>A (human)
RGD
PMID:20185929
RGD:7242570
NCBI chr20:8,663,617...8,681,661
Ensembl chr20:8,662,801...8,681,649
G
Gsr
glutathione-disulfide reductase
ISO
protein:increased activity:blood: protein:increased activity:lymphocyte:
RGD
PMID:20181004 PMID:6463365
RGD:7257547 , RGD:7257560
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
G
Gstm1
glutathione S-transferase mu 1
ISO
RGD
PMID:24339523
RGD:14700960
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
G
Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
associated with Diabetes Mellitus;DNA:deletion
RGD
PMID:15492856
RGD:2306631
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
G
Gtpbp4
GTP binding protein 4
IDA
RGD
PMID:11316846
RGD:632611
NCBI chr17:61,308,033...61,328,184
Ensembl chr17:61,308,014...61,418,009
G
Guca2b
guanylate cyclase activator 2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15780094
NCBI chr 5:133,246,891...133,248,941
Ensembl chr 5:133,246,909...133,248,966
G
Hamp
hepcidin antimicrobial peptide
IEP ISO
mRNA:increased expression:liver CTD Direct Evidence: marker/mechanism protein:increased expression:plasma
CTD RGD
PMID:16929540 PMID:20631677 PMID:19212416
RGD:11041611 , RGD:11041622
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
G
Hbegf
heparin-binding EGF-like growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21937979
NCBI chr18:28,106,284...28,116,167
Ensembl chr18:28,105,760...28,116,441
G
Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
IMP IEP ISO
associated with Hypertension protein:decreased expression:kidney (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19878707 PMID:21119529 PMID:19878707
RGD:5508686 , RGD:2326081
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
G
Hmox1
heme oxygenase 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:22622455
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
G
Icam1
intercellular adhesion molecule 1
IEP
protein:increased expression:kidney (rat)
RGD
PMID:20820841
RGD:4145364
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
G
Igf1
insulin-like growth factor 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:10198369
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
G
Il20
interleukin 20
IEP
protein:increased expression:multiple organs
RGD
PMID:18639518
RGD:5147394
NCBI chr13:42,380,981...42,384,625
Ensembl chr13:42,380,981...42,384,625
G
Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19539174
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Insig2
insulin induced gene 2
IEP
protein:decreased expression:kidney (rat)
RGD
PMID:19878707
RGD:2326081
NCBI chr13:32,472,390...32,500,139
Ensembl chr13:32,473,742...32,494,923
G
Irs1
insulin receptor substrate 1
IDA
protein:decreased tyrosine phosphorylation:aorta
RGD
PMID:22942179
RGD:7207055
NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122
G
Itga8
integrin subunit alpha 8
ISO
associated with Polycystic Kidney, Autosomal Dominant;DNA:polymorphism: :-414T>C(human)
RGD
PMID:18277079
RGD:7257723
NCBI chr17:75,304,004...75,501,510
Ensembl chr17:75,304,008...75,501,510
G
Itgb3
integrin subunit beta 3
ISO
associated with Hypertension;DNA:polymorphism
RGD
PMID:19368146
RGD:6907396
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
G
Keap1
Kelch-like ECH-associated protein 1
IEP
protein:increased expression:renal cortex, cytosol (rat)
RGD
PMID:20007347
RGD:6892947
NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862
G
Kl
Klotho
ISO IEP
mRNA,protein:decreased expression:kidney: mRNA:decreased expression:kidney:
RGD
PMID:11162628 PMID:9731228
RGD:10403042 , RGD:10403067
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
G
Klk1
kallikrein 1
ISO
RGD
PMID:11849458
RGD:1581753
NCBI chr 1:94,642,644...94,646,760
Ensembl chr 1:94,642,687...94,646,754
G
Lcat
lecithin cholesterol acyltransferase
IDA
RGD
PMID:15280162
RGD:1581769
NCBI chr19:33,834,748...33,838,214
Ensembl chr19:33,834,403...33,838,231
G
Lcn2
lipocalin 2
onset
ISO
protein:increased expression:urine:
RGD
PMID:22542304
RGD:7245503
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
G
Lep
leptin
ISO
protein:increased expression:serum (human)
RGD
PMID:9294834
RGD:10053636
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
G
Lipc
lipase C, hepatic type
IDA
protein, mRNA:decreased expression:hepatocytes, liver (rat)
RGD
PMID:8636395
RGD:2308788
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
G
Lipj
lipase family member J
ISO
ClinVar Annotator: match by term: Stage 5 chronic kidney disease
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:231,363,526...231,376,784
Ensembl chr 1:231,363,646...231,376,784
G
Lpin1
lipin 1
IEP
mRNA:increased expression:skeletal muscle
RGD
PMID:14718385
RGD:1641826
NCBI chr 6:39,309,198...39,417,034
Ensembl chr 6:39,312,748...39,417,097
G
Lpl
lipoprotein lipase
IEP
RGD
PMID:22009636
RGD:6909179
NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
G
Lrp2
LDL receptor related protein 2
IEP
mRNA:decreased expression:kidney
RGD
PMID:15266031
RGD:1641836
NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
G
Mbl2
mannose binding lectin 2
ISO
associated with Lupus Erythematosus, Systemic;DNA:polymorphisms
RGD
PMID:16801331
RGD:6903261
NCBI chr 1:228,016,439...228,024,736
G
Mlxipl
MLX interacting protein-like
ameliorates
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19878707 PMID:19878707
RGD:2326081
NCBI chr12:21,541,608...21,577,120
Ensembl chr12:21,543,576...21,577,112
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 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
G
Mmp10
matrix metallopeptidase 10
ISO
associated with Hypertension; protein:increased expression:plasma (human)
RGD
PMID:19886850
RGD:7207051
NCBI chr 8:4,689,840...4,697,748
Ensembl chr 8:4,689,840...4,697,748
G
Mmp2
matrix metallopeptidase 2
ISO
associated with Hypertension; protein:increased expression:plasma (human)
RGD
PMID:19886850
RGD:7207051
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
G
Mmp3
matrix metallopeptidase 3
severity
ISO
DNA:insertion, haplotype:promoter:g.-1613insA (human)
RGD
PMID:19221176
RGD:7207064
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
G
Mpo
myeloperoxidase
disease_progression
ISO
RGD
PMID:20638167
RGD:6909184
NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
G
Msc
musculin
susceptibility
ISO
associated with type 1 diabetes mellitus;DNA:SNP:5'UTR:rs9298190(human)
RGD
PMID:19929986
RGD:596936222
NCBI chr 5:4,547,335...4,553,206
Ensembl chr 5:4,547,405...4,553,203
G
Msr1
macrophage scavenger receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19878707
NCBI chr16:52,717,775...52,803,602
Ensembl chr16:52,717,732...52,799,676
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 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
G
Mtor
mechanistic target of rapamycin kinase
treatment
IMP
RGD
PMID:22427849
RGD:10040968
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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 RGD
PMID:18794854 PMID:18794856 PMID:18794854 PMID:21968013 PMID:20144966 PMID:19177153 PMID:19567477 More...
RGD:6903237 , RGD:6903256 , RGD:6903243 , RGD:6903239 , RGD:6903238
NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
G
Nat2
N-acetyltransferase 2
IEP
mRNA,protein:decreased expression:liver:
RGD
PMID:20007296
RGD:11533637
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
G
Ncf1
neutrophil cytosolic factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19420110
NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646
G
Nfkb1
nuclear factor kappa B subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19420110
NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
G
Ngf
nerve growth factor
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24244623 PMID:19169037
RGD:7242783
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
G
Nos1
nitric oxide synthase 1
treatment
IEP IDA
protein:decreased expression:kidney cortex
RGD
PMID:17200156 PMID:23185775
RGD:1642147 , RGD:7257669
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
G
Nox4
NADPH oxidase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19420110
NCBI chr 1:140,900,886...141,078,844
Ensembl chr 1:140,901,097...141,077,406
G
Nphs1
NPHS1 adhesion molecule, nephrin
disease_progression
IEP
mRNA;increased expression:urine (rat)
RGD
PMID:19389856
RGD:38599006
NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078
G
Nppb
natriuretic peptide B
ISO
protein:increased expression:plasma:
RGD
PMID:7606877
RGD:7246912
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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 9:87,320,051...87,324,251
Ensembl chr 9:87,320,051...87,324,251
G
Nr3c1
nuclear receptor subfamily 3, group C, member 1
IEP
RGD
PMID:18591458
RGD:7174716
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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Olr1
oxidized low density lipoprotein receptor 1
IEP
mRNA, protein:increased expression:kidney (rat)
RGD
PMID:12661921
RGD:1580992
NCBI chr 4:162,926,436...162,949,057
Ensembl chr 4:162,926,439...162,948,523
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Pax2
paired box 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16631587
NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321
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Pgf
placental growth factor
IEP
RGD
PMID:16543713
RGD:1642390
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
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Pkd1
polycystin 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Stage 5 chronic kidney disease
ClinVar
PMID:25741868
NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
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Pla2g7
phospholipase A2 group VII
ISO
plasma:increased expression:plasma
RGD
PMID:16421163
RGD:7248787
NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
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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 chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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Plaur
plasminogen activator, urokinase receptor
ISO
RGD
PMID:19926968
RGD:6483806
NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595
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Postn
periostin
IEP
mRNA,protein:increased expression,increased secretion:kidney,urine:
RGD
PMID:22167593
RGD:10040972
NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099
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Ppara
peroxisome proliferator activated receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19878707
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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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 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Ptger4
prostaglandin E receptor 4
treatment
IMP
RGD
PMID:16871242
RGD:10003092
NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670
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Ptgs1
prostaglandin-endoperoxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19420110
NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19420110
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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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 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Rela
RELA proto-oncogene, NF-kB subunit
IEP ISO
protein:increased expression:kidney CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19420110 PMID:18077597
RGD:2298859
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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Retn
resistin
severity
ISO
protein:increased expression:serum CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19539174 PMID:22421264
RGD:7207074
NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620
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Rnls
renalase, FAD-dependent amine oxidase
ISO
protein:decreased expression:plasma: ClinVar Annotator: match by term: Stage 5 chronic kidney disease
ClinVar RGD
PMID:25741868 PMID:28492532 PMID:15841207
RGD:7327153
NCBI chr 1:231,037,481...231,309,855
Ensembl chr 1:231,037,486...231,309,823
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Scaf1
SR-related CTD-associated factor 1
IEP
protein:increased expression:kidney (rat)
RGD
PMID:19878707
RGD:2326081
NCBI chr 1:95,485,448...95,499,389
Ensembl chr 1:95,485,448...95,496,029
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Scap
SREBF chaperone
multiple interactions
IEP
RGD
PMID:19878707
RGD:2326081
NCBI chr 8:110,306,026...110,360,677
Ensembl chr 8:110,306,031...110,360,666
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Scarb1
scavenger receptor class B, member 1
ameliorates
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19878707 PMID:19878707
RGD:2326081
NCBI chr12:31,296,143...31,362,649
Ensembl chr12:31,296,156...31,362,647
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Sell
selectin L
no_association
ISO
RGD
PMID:22119815
RGD:7175303
NCBI chr13:76,416,969...76,436,444
Ensembl chr13:76,416,915...76,436,456
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Serpine1
serpin family E member 1
treatment
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19420110 PMID:26903149
RGD:11073683
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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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 1:48,121,061...48,163,268
Ensembl chr 1:48,121,061...48,163,268
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Slc34a1
solute carrier family 34 member 1
IEP
mRNA:decreased expression:renal cortex (rat)
RGD
PMID:15452708
RGD:7242930
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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Slc9a5
solute carrier family 9 member A5
resistance
ISO
DNA:polymorphism
RGD
PMID:10642288
RGD:1643221
NCBI chr19:33,225,481...33,246,913
Ensembl chr19:33,226,816...33,246,903
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Soat2
sterol O-acyltransferase 2
IDA
RGD
PMID:12217884
RGD:625687
NCBI chr 7:133,281,818...133,294,915
Ensembl chr 7:133,281,818...133,294,915
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Srebf1
sterol regulatory element binding transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19878707
NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
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Srebf2
sterol regulatory element binding transcription factor 2
IEP ISO
mRNA, protein:increased expression:liver CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19878707 PMID:16814791
RGD:2308825
NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848
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Tbx21
T-box transcription factor 21
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26970513
NCBI chr10:82,082,322...82,098,831
Ensembl chr10:82,082,322...82,098,831
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Tgfb1
transforming growth factor, beta 1
IEP ISO
mRNA, protein:increased expression:kidney CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19420110 PMID:10919844
RGD:7394838
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Thbd
thrombomodulin
ISO
protein:increased expression:plasma
RGD
PMID:22129968 PMID:21873362
RGD:5684979 , RGD:5684981
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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Tlr2
toll-like receptor 2
ISO
RGD
PMID:20729266
RGD:7240546
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr4
toll-like receptor 4
ISO
RGD
PMID:20729266
RGD:7240546
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tnf
tumor necrosis factor
ISO
associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19539174 PMID:22266663
RGD:7245510
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf11b
TNF receptor superfamily member 11B
severity
ISO
RGD
PMID:21479768
RGD:7205485
NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma
RGD
PMID:22266663
RGD:7245510
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma
RGD
PMID:22266663
RGD:7245510
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Ucp2
uncoupling protein 2
susceptibility
ISO
DNA:polymorphism: :-866G>A (human) DNA:deletion
RGD
PMID:19406964 PMID:18242170
RGD:7175298 , RGD:7175299
NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
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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 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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Zmiz1
zinc finger, MIZ-type containing 1
susceptibility
ISO
associated with type 1 diabetes mellitus;DNA:SNP:5'UTR:rs1749824(human)
RGD
PMID:19929986
RGD:596936222
NCBI chr16:1,027,083...1,232,616
Ensembl chr16:1,027,325...1,232,597
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Frasier syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 PMID:6307071 PMID:7795587 PMID:8295405 PMID:8388765 PMID:8621495 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9475094 PMID:9499425 PMID:9529364 PMID:9531607 PMID:9536098 PMID:9607189 PMID:9745866 PMID:9817285 PMID:10094551 PMID:10470095 PMID:10505699 PMID:10505700 PMID:10561752 PMID:10571943 PMID:10670748 PMID:10762296 PMID:10792605 PMID:11007843 PMID:11182928 PMID:11241055 PMID:11738793 PMID:12050205 PMID:12471221 PMID:12640141 PMID:12970737 PMID:15150775 PMID:15266301 PMID:15483024 PMID:15509792 PMID:16439601 PMID:16717397 PMID:16987884 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17694336 PMID:17853480 PMID:18559874 PMID:18591546 PMID:18618575 PMID:19048299 PMID:19171881 PMID:19205749 PMID:19221039 PMID:19484379 PMID:19494353 PMID:19536888 PMID:20368469 PMID:20413658 PMID:20435628 PMID:20442690 PMID:20595692 PMID:21499692 PMID:21504297 PMID:21508141 PMID:21851196 PMID:22099579 PMID:22703879 PMID:22815844 PMID:22908070 PMID:23117548 PMID:23295293 PMID:23302619 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24161391 PMID:24728327 PMID:24856380 PMID:25110071 PMID:25349199 PMID:25451826 PMID:25501161 PMID:25623218 PMID:25741868 PMID:25813279 PMID:25818337 PMID:25932436 PMID:26069768 PMID:26248470 PMID:26358501 PMID:26467025 PMID:26725263 PMID:27013732 PMID:27719739 PMID:27854218 PMID:27899157 PMID:28204945 PMID:28492532 PMID:28780565 PMID:28811308 PMID:29474669 PMID:29668062 PMID:30406062 PMID:30655312 PMID:30963316 PMID:31970404 PMID:32352694 PMID:32581362 PMID:32604935 PMID:32891756 PMID:34490048 PMID:34622098 PMID:35211794 PMID:35904974 PMID:36349777 PMID:36980135 More...
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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