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 chr19:35,742,758...35,825,321
Ensembl chr19:44,313,569...44,395,508
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AGER
advanced glycosylation end-product specific receptor
disease_progression severity susceptibility
ISO
DNA:polymorphism:promoter:g.-374T>A (human) DNA:polymorphisms:promoter, intron:g.-429T>C, g.2184A>G (human) associated with Diabetes Mellitus, Type 2; DNA:polymorphism:promoter:g.-429T>C (human) protein:increased expression:serum (human)
RGD
PMID:20185929 PMID:20353610 PMID:21432860 PMID:21822023 PMID:23593165
RGD:7242570 RGD:7243185 RGD:7243867 RGD:7243958 RGD:7244142
NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
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AGTR1
angiotensin II receptor type 1
disease_progression
ISO
DNA:polymorphism:3' utr:1166A>C (human)
RGD
PMID:12089373 PMID:12832734
RGD:6903863 RGD:8548869
NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380
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AGTR2
angiotensin II receptor type 2
ISO
RGD
PMID:12089373
RGD:6903863
NCBI chr X:105,252,903...105,257,171
Ensembl chr X:115,671,594...115,672,685
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AHR
aryl hydrocarbon receptor
ISO
mRNA, protein:increased expression:heart (mouse)
RGD
PMID:31746392
RGD:401793746
NCBI chr 7:17,949,254...17,998,737
Ensembl chr 7:17,278,637...17,326,171
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AKAP12
A-kinase anchoring protein 12
susceptibility
ISO
DNA:polymorphism: :rs756009(human)
RGD
PMID:19724895
RGD:14349027
NCBI chr 6:149,058,350...149,176,710
Ensembl chr 6:153,757,081...153,873,925
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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 7:37,011,518...37,075,349
Ensembl chr 7:37,243,917...37,304,137
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APOA1
apolipoprotein A1
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868
NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122
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APOA4
apolipoprotein A4
disease_progression
ISO
protein:increased expression:blood plasma (human)
RGD
PMID:21569504
RGD:5685637
NCBI chr11:111,659,186...111,661,790
Ensembl chr11:115,591,788...115,594,382
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APOC3
apolipoprotein C3
ISO
protein:increased expression:plasma
RGD
PMID:21297177 PMID:21829457
RGD:7207207 RGD:7207209
NCBI chr11:111,667,816...111,670,861
Ensembl chr11:115,600,416...115,603,460
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ARHGDIA
Rho GDP dissociation inhibitor alpha
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868
NCBI chr17:76,273,196...76,276,942
Ensembl chr17:81,975,340...81,978,447
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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 chr2B:102,574,700...102,612,492
Ensembl chr2B:221,159,439...221,197,360
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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 chr 1:154,847,978...155,043,339
Ensembl chr 1:158,536,967...158,724,251
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B2M
beta-2-microglobulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:37921072
NCBI chr15:23,668,108...23,674,791
Ensembl chr15:41,836,345...41,842,991
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CFH
complement factor H
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868
NCBI chr 1:172,155,882...172,251,632
Ensembl chr 1:176,455,247...176,525,521
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CFHR5
complement factor H related 5
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:17000000 PMID:22503529 PMID:22527104 PMID:24033266 PMID:25260719 PMID:25741868 PMID:28054583 PMID:28492532 PMID:28750028 PMID:30295827 PMID:31664448 PMID:32723786 More...
NCBI chr 1:172,541,948...172,574,591
Ensembl chr 1:176,876,635...176,908,723
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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 4:102,236,868...102,311,359
Ensembl chr 4:112,804,645...112,865,581
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CLU
clusterin
ISO
associated with Obesity;protein:increased expression:urine
RGD
PMID:24325231
RGD:9068427
NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523
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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 chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529
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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 chr2B:114,410,703...114,559,336
Ensembl chr2B:233,294,783...233,371,021
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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 chr2B:114,227,135...114,410,564
Ensembl chr2B:233,065,678...233,205,892
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COL6A3
collagen type VI alpha 3 chain
ISO
DNA:SNP:CDS:E1386K (rs146092501) (human)
RGD
PMID:30226566
RGD:401851058
NCBI chr2B:124,554,478...124,644,482
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CPB2
carboxypeptidase B2
ISO
DNA:polymorphism:cds :p.A147T(rs3742264)(human)
RGD
PMID:19056482
RGD:7243119
NCBI chr13:26,926,788...26,979,767
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CST3
cystatin C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32450046
NCBI chr20:23,583,043...23,587,399
Ensembl chr20:23,935,942...23,940,425
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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 chr10:17,141,464...17,446,867
Ensembl chr10:17,415,551...17,719,129
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CYP1B1
cytochrome P450 family 1 subfamily B member 1
ISO
mRNA, protein:increased expression:heart (mouse)
RGD
PMID:31746392
RGD:401793746
NCBI chr2A:38,087,863...38,096,529
Ensembl chr2A:38,851,000...38,859,824
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DGAT1
diacylglycerol O-acyltransferase 1
ISO
protein:decreased expression:liver:
RGD
PMID:23045433
RGD:10400847
NCBI chr 8:141,079,948...141,090,619
Ensembl chr 8:144,064,587...144,080,155
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DGAT2
diacylglycerol O-acyltransferase 2
ISO
protein:decreased expression:liver:
RGD
PMID:23045433
RGD:10400847
NCBI chr11:70,824,791...70,857,530
Ensembl chr11:74,126,169...74,158,854
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DNM1L
dynamin 1 like
treatment
ISO
RGD
PMID:27801955
RGD:12738369
NCBI chr12:53,476,553...53,541,421
Ensembl chr12:56,077,504...56,142,376
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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 chr 1:180,750,987...180,820,096
Ensembl chr 1:185,041,994...185,107,041
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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 chr 3:182,228,520...182,319,339
Ensembl chr 3:190,704,695...190,796,075
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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 chr19:48,281,101...48,301,527
Ensembl chr19:57,166,829...57,175,582
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FGF21
fibroblast growth factor 21
ISO
protein:increased expression:serum:
RGD
PMID:22494291
RGD:10401925
NCBI chr19:45,755,466...45,758,472
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FGF23
fibroblast growth factor 23
ISO
protein:increased expression:serum:
RGD
PMID:20016468
RGD:10044210
NCBI chr12:4,479,116...4,488,797
Ensembl chr12:4,400,802...4,412,000
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FIS1
fission, mitochondrial 1
treatment
ISO
RGD
PMID:27801955
RGD:12738369
NCBI chr 7:93,381,058...93,386,483
Ensembl chr 7:106,621,211...106,626,683
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FN1
fibronectin 1
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868 PMID:28492532
NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003
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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 9:14,567,781...14,748,474
Ensembl chr 9:15,081,208...15,253,399
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GANAB
glucosidase II alpha subunit
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868 PMID:28492532
NCBI chr11:57,982,393...58,003,871
Ensembl chr11:61,336,487...61,357,908
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GJA1
gap junction protein alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32045570
NCBI chr 6:119,213,513...119,227,617
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GP1BA
glycoprotein Ib platelet subunit alpha
exacerbates
ISO
RGD
PMID:11314805
RGD:42722629
NCBI chr17:4,980,083...4,983,219
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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 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826
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GRP
gastrin releasing peptide
ISO
mRNA, protein:increased expression:aorta, plasma (human)
RGD
PMID:32192106
RGD:329961569
NCBI chr18:52,614,169...52,626,427
Ensembl chr18:55,942,263...55,953,188
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HAVCR1
hepatitis A virus cellular receptor 1
ISO
RGD
PMID:22269876
RGD:7245952
NCBI chr 5:152,429,337...152,459,800
Ensembl chr 5:158,413,073...158,442,481
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HMGCR
3-hydroxy-3-methylglutaryl-CoA reductase
ISO
mRNA, protein:increased expression:liver
RGD
PMID:12841361
RGD:1300058
NCBI chr 5:39,936,630...39,961,519
Ensembl chr 5:40,548,919...40,573,785
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IL19
interleukin 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24714768
NCBI chr 1:182,372,339...182,446,147
Ensembl chr 1:186,651,640...186,724,748
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IL1B
interleukin 1 beta
ISO
protein:decreased expression:serum (human) mRNA:increased expression:kidney (mouse) associated with Periodontitis; DNA:SNP:intron:g.3954C>T (human)
RGD
PMID:21975861 PMID:22398717 PMID:22613545 PMID:22728154 PMID:22795294
RGD:6906881 RGD:7175095 RGD:7175169 RGD:7175171 RGD:7175304
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
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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:22795294 PMID:23024164
RGD:6906880 RGD:6906881
NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
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INF2
inverted formin 2
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:85,339,478...85,366,336
Ensembl chr14:105,145,779...105,163,154
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INSR
insulin receptor
ISO
protein:decreased phosphorylation:aorta
RGD
PMID:22942179
RGD:7207055
NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889
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KL
klotho
disease_progression treatment
ISO
protein:decreased expression:urine: mRNA,protein:decreased expression:renal tubule, epithelial cell:
RGD
PMID:11967236 PMID:21115613
RGD:10403077 RGD:70544
NCBI chr13:14,272,463...14,321,122
Ensembl chr13:32,702,336...32,751,458
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KLK1
kallikrein 1
susceptibility
ISO
associated with Vesico-Ureteral Reflux
RGD
PMID:15086490
RGD:1581752
NCBI chr19:47,784,368...47,789,004
Ensembl chr19:56,677,579...56,682,216
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LCN2
lipocalin 2
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:20921623 PMID:24714768
RGD:126781837
NCBI chr 9:99,259,278...99,274,494
Ensembl chr 9:127,940,799...127,944,798
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LEPR
leptin receptor
ISO
RGD
PMID:27465994 PMID:32390513
RGD:12911217 RGD:34888223
NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768
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LOC100980965
zinc-alpha-2-glycoprotein
ISO
protein:increased expression:plasma,white adipose tissue: protein:increased expression:white adipose tissue:
RGD
PMID:23423258
RGD:153352319
NCBI chr 7:91,999,717...92,009,066
Ensembl chr 7:105,432,782...105,442,219
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LOC100986475
metallothionein-2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27122239
NCBI chr16:36,894,853...36,895,826
Ensembl chr16:56,007,922...56,028,093
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MAP3K7
mitogen-activated protein kinase kinase kinase 7
ISO
protein:increased expression:aorta (rat)
RGD
PMID:32581266
RGD:155804294
NCBI chr 6:88,398,329...88,470,926
Ensembl chr 6:91,664,263...91,737,468
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MAS1
MAS1 proto-oncogene, G protein-coupled receptor
treatment
ISO
RGD
PMID:24614509
RGD:401793742
NCBI chr 6:157,774,098...157,799,983
Ensembl chr 6:162,801,416...162,802,393
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MFN1
mitofusin 1
treatment
ISO
RGD
PMID:27801955
RGD:12738369
NCBI chr 3:176,378,175...176,423,943
Ensembl chr 3:184,552,108...184,596,763
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MTHFR
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:polymorphism:cds:g.677C>T (human)
RGD
PMID:23595572
RGD:7244284
NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
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MYH9
myosin heavy chain 9
no_association
ISO
RGD
PMID:22956460
RGD:12798515
NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618
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NFE2L2
NFE2 like bZIP transcription factor 2
treatment
ISO
RGD
PMID:23174956
RGD:10412711
NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085
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NGF
nerve growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24244623
NCBI chr 1:87,223,597...87,276,759
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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 chr17:68,694,468...68,715,157
Ensembl chr17:74,250,406...74,271,234
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NOS3
nitric oxide synthase 3
treatment susceptibility
ISO
mRNA:decreased expression:cortex of kidney (rat)
RGD
PMID:29018182 PMID:29247650
RGD:13450920 RGD:13504713
NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
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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:155631310 RGD:38549368
NCBI chr19:32,742,802...32,770,600
Ensembl chr19:41,492,444...41,518,471
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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 chr 1:155,038,753...155,064,332
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NPPA
natriuretic peptide A
disease_progression
ISO
protein:increased expression:plasma
RGD
PMID:19052536
RGD:7247723
NCBI chr 1:10,608,025...10,610,287
Ensembl chr 1:11,825,072...11,827,373
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NPPB
natriuretic peptide B
disease_progression
ISO
RGD
PMID:23725445
RGD:7246908
NCBI chr 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995
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NQO1
NAD(P)H quinone dehydrogenase 1
treatment
ISO
RGD
PMID:22227174
RGD:10769366
NCBI chr16:50,090,696...50,106,495
Ensembl chr16:69,470,288...69,489,731
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NR4A1
nuclear receptor subfamily 4 group A member 1
disease_progression
ISO
RGD
PMID:24722447
RGD:12910103
NCBI chr12:36,703,903...36,740,211
Ensembl chr12:37,480,300...37,501,188
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OPA1
OPA1 mitochondrial dynamin like GTPase
treatment
ISO
RGD
PMID:27801955
RGD:12738369
NCBI chr 3:190,890,242...190,995,133
Ensembl chr 3:201,207,607...201,312,358
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PASK
PAS domain containing serine/threonine kinase
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868
NCBI chr2B:128,364,745...128,418,837
Ensembl chr2B:247,162,011...247,214,803
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PAX2
paired box 2
treatment
ISO
human cells in rat model
RGD
PMID:33298161
RGD:155631310
NCBI chr10:97,344,978...97,429,086
Ensembl chr10:100,822,676...100,904,028
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PCSK2
proprotein convertase subtilisin/kexin type 2
ISO
RGD
PMID:18039782
RGD:6483556
NCBI chr20:17,184,878...17,443,355
Ensembl chr20:17,163,675...17,421,157
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PKD1
polycystin 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868
NCBI chr16:604,366...605,560
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POSTN
periostin
ISO
protein:increased expression:kidney: protein:increased secretion:urine:
RGD
PMID:22167593 PMID:22403621
RGD:10040972 RGD:10041032
NCBI chr13:18,779,297...18,815,207
Ensembl chr13:37,368,030...37,407,212
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PPARGC1A
PPARG coactivator 1 alpha
ISO
RGD
PMID:22648295
RGD:7242023
NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212
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PTH
parathyroid hormone
treatment severity
ISO
associated with Diabetes Mellitus, Type 2; protein:increased expression:serum (human) protein:decreased expression:plasma (rat)
RGD
PMID:21826734 PMID:22517117 PMID:23345625 PMID:23467111 PMID:23528898
RGD:7242412 RGD:7242418 RGD:7242572 RGD:7242935 RGD:7242949
NCBI chr11:13,653,777...13,657,901
Ensembl chr11:13,347,838...13,351,802
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 chr10:90,337,879...90,347,530
Ensembl chr10:93,848,166...93,857,887
G
RETN
resistin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22421264
NCBI chr19:6,958,536...6,960,032
Ensembl chr19:7,812,942...7,814,909
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RNLS
renalase, FAD dependent amine oxidase
ISO
protein, activity:decreased expression:plasma, heart, kidney:
RGD
PMID:18299506
RGD:7327164
NCBI chr10:84,996,999...85,304,240
Ensembl chr10:88,503,683...88,808,990
G
RTN3
reticulon 3
ISO
MouseDO
NCBI chr11:59,039,313...59,117,572
Ensembl chr11:62,391,284...62,468,595
G
SALL1
spalt like transcription factor 1
treatment
ISO
human cells in rat model
RGD
PMID:33298161
RGD:155631310
NCBI chr16:31,396,399...31,412,753
Ensembl chr16:50,274,090...50,284,819
G
SERPINA3
serpin family A member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35635602
NCBI chr14:75,220,252...75,247,996
Ensembl chr14:94,551,934...94,579,515
G
SHH
sonic hedgehog signaling molecule
ISO
mRNA, protein:increased expression:kidney
RGD
PMID:24744439
RGD:12859042
NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651
G
SIX2
SIX homeobox 2
treatment
ISO
human cells in rat model
RGD
PMID:33298161
RGD:155631310
NCBI chr2A:45,109,414...45,113,887
Ensembl chr2A:46,039,582...46,044,035
G
SLC19A1
solute carrier family 19 member 1
ISO
mRNA:decreased expression:multiple (rat)
RGD
PMID:21149507
RGD:7327184
NCBI chr21:31,836,774...31,883,829
Ensembl chr21:45,090,595...45,134,752
G
SLC19A2
solute carrier family 19 member 2
ISO
mRNA:decreased expression:liver, heart (rat)
RGD
PMID:21149507
RGD:7327184
NCBI chr 1:144,946,248...144,968,736
Ensembl chr 1:148,668,687...148,690,713
G
SLC19A3
solute carrier family 19 member 3
ISO
mRNA:decreased expression:liver, heart, jejunum (rat)
RGD
PMID:21149507
RGD:7327184
NCBI chr2B:114,925,990...114,957,841
Ensembl chr2B:233,736,050...233,764,514
G
SLC34A1
solute carrier family 34 member 1
ISO
DNA:snp:intron:IVS9+122A>G rs6420094 (human) mRNA:decreased expression:kidney (rat)
RGD
PMID:20383146 PMID:21826734
RGD:7242935 RGD:7243100
NCBI chr 5:172,685,862...172,700,440
Ensembl chr 5:179,748,492...179,762,975
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SLC46A1
solute carrier family 46 member 1
ISO
mRNA:decreased expression:liver, heart, jejunum (rat)
RGD
PMID:21149507
RGD:7327184
NCBI chr17:28,367,674...28,379,618
Ensembl chr17:28,870,678...28,877,632
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SYNPO
synaptopodin
treatment
ISO
human cells in rat model
RGD
PMID:33298161
RGD:155631310
NCBI chr 5:146,048,956...146,083,490
Ensembl chr 5:152,046,207...152,085,595
G
TBX18
T-box transcription factor 18
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:82,621,987...82,654,137
Ensembl chr 6:85,862,810...85,938,799
G
TERT
telomerase reverse transcriptase
treatment
ISO
RGD
PMID:23013219
RGD:11038770
Ensembl chr 5:1,300,960...1,338,872
G
TFCP2L1
transcription factor CP2 like 1
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:33097957
NCBI chr2B:8,155,839...8,219,017
Ensembl chr2B:121,729,061...121,792,281
G
TTC21B
tetratricopeptide repeat domain 21B
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr2B:53,140,199...53,220,535
Ensembl chr2B:170,616,444...170,699,471
G
UMOD
uromodulin
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868
NCBI chr16:17,960,456...17,980,338
Ensembl chr16:20,430,085...20,449,121
G
VCAM1
vascular cell adhesion molecule 1
ISO
protein:increased expression:serum: protein:increased expression:kidney
RGD
PMID:20820841 PMID:21111939
RGD:4145364 RGD:7241036
NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732
G
WNT9B
Wnt family member 9B
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:34145744
NCBI chr17:10,616,957...10,651,954
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 chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249
G
XDH
xanthine dehydrogenase
treatment
ISO
associated with Hypertension;DNA:SNP: :66292C>G (human)
RGD
PMID:18712049 PMID:22622455
RGD:7247640 RGD:7247654
NCBI chr2A:31,356,011...31,435,111
Ensembl chr2A:31,425,183...31,504,455
G
ZNF423
zinc finger protein 423
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868 PMID:28492532 PMID:32723786
NCBI chr16:29,748,405...30,118,999
Ensembl chr16:48,639,118...48,969,727
G
ABCA1
ATP binding cassette subfamily A member 1
ameliorates
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19878707
RGD:2326081
NCBI chr 9:75,948,831...76,096,136
Ensembl chr 9:104,076,516...104,224,188
G
ABCB1
ATP binding cassette subfamily B member 1
ISO
RGD
PMID:17135344
RGD:2301067
NCBI chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238
G
ABCC2
ATP binding cassette subfamily C member 2
ISO
RGD
PMID:17135344
RGD:2301067
NCBI chr10:96,385,534...96,458,571
Ensembl chr10:99,889,160...99,947,270
G
ABCC3
ATP binding cassette subfamily C member 3
ISO
protein:decreased expression:intestine
RGD
PMID:17135344
RGD:2301067
Ensembl chr17:49,603,268...49,659,318
G
ABCG1
ATP binding cassette subfamily G member 1
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:kidney (rat)
CTD RGD
PMID:19878707
RGD:2326081
NCBI chr21:28,534,697...28,619,590
Ensembl chr21:41,839,115...41,933,050
G
ACAT1
acetyl-CoA acetyltransferase 1
ISO
protein:increased expression:kidney (rat) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:19878707
RGD:2326081
NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787
G
ACE
angiotensin I converting enzyme
treatment susceptibility
ISO
associated with Vesico-Ureteral Reflux;DNA:deletion associated with Diabetes Mellitus, Type 2;DNA:deletion:intron:IVS16+1464-1751del (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:7593601 PMID:10099885 PMID:14586729 PMID:16385653 PMID:20149750
RGD:12879398 RGD:6903283 RGD:8142355
NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
G
ADIPOQ
adiponectin, C1Q and collagen domain containing
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:serum, urine
CTD RGD
PMID:19539174 PMID:24028144
RGD:8695941
NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885
G
ADIPOR1
adiponectin receptor 1
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:19539174 PMID:24028144
RGD:8695941
NCBI chr 1:178,542,496...178,560,055
Ensembl chr 1:182,837,589...182,854,782
G
ADIPOR2
adiponectin receptor 2
ISO
RGD
PMID:24028144
RGD:8695941
NCBI chr12:1,772,426...1,902,070
Ensembl chr12:1,817,620...1,852,251
G
ADRB2
adrenoceptor beta 2
ISO
RGD
PMID:9730702
RGD:7175286
NCBI chr 5:144,259,756...144,398,421
Ensembl chr 5:150,267,554...150,315,892
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AGER
advanced glycosylation end-product specific receptor
ISO
protein:increased expression:serum (human)
RGD
PMID:21822023
RGD:7243867
NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
G
AGTR2
angiotensin II receptor type 2
ISO
associated with Vesico-Ureteral Reflux;DNA:SNP: :-1332A>G (human)
RGD
PMID:19212419 PMID:20149750
RGD:6903283 RGD:6903843
NCBI chr X:105,252,903...105,257,171
Ensembl chr X:115,671,594...115,672,685
G
ALB
albumin
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11849406 PMID:11938814
RGD:11036089
NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418
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 chr2A:73,438,657...73,671,313
Ensembl chr2A:74,926,650...75,152,139
G
APOA1
apolipoprotein A1
treatment
ISO
associated with Hyperlipidemias protein:decreased expression:blood protein:increased expression, increased glycation:plasma
RGD
PMID:18079481 PMID:20488818 PMID:22515595
RGD:7241208 RGD:7241571 RGD:7241576
NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122
G
APOC2
apolipoprotein C2
ISO
associated with Diabetes Mellitus, Insulin-Dependent
RGD
PMID:8139482
RGD:2313968
NCBI chr19:41,892,954...41,896,461
G
APOC3
apolipoprotein C3
ISO
protein:increased expression: : associated with Diabetes Mellitus, Insulin-Dependent
RGD
PMID:8139482 PMID:10822722
RGD:2313968 RGD:7207212
NCBI chr11:111,667,816...111,670,861
Ensembl chr11:115,600,416...115,603,460
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APOE
apolipoprotein E
ISO
protein:increased expression:serum (human)
RGD
PMID:21332332 PMID:21705678
RGD:6903287 RGD:6904217
NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
G
ARG2
arginase 2
ISO
protein:decreased activity:kidney (rat)
RGD
PMID:16809898
RGD:4110828
NCBI chr14:48,197,831...48,231,829
Ensembl chr14:67,075,941...67,109,962
G
BCL2
BCL2 apoptosis regulator
treatment
ISO
RGD
PMID:20424483
RGD:11522730
NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
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:7241561 RGD:7241582
NCBI chr14:76,885,923...76,894,456
G
BECN1
beclin 1
ISO
protein:increased expression:kidney
RGD
PMID:24090408
RGD:11561926
NCBI chr17:14,493,619...14,507,809
Ensembl chr17:14,719,781...14,733,286
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BGLAP
bone gamma-carboxyglutamate protein
ISO
protein:increased expression:serum
RGD
PMID:17365904 PMID:20845051
RGD:7207235 RGD:7207409
NCBI chr 1:131,583,789...131,586,459
Ensembl chr 1:135,413,871...135,416,432
G
BNIP3
BCL2 interacting protein 3
ISO
protein:increased expression:kidney
RGD
PMID:24090408
RGD:11561926
NCBI chr10:128,671,663...128,685,952
Ensembl chr10:132,858,211...132,871,634
G
C6
complement C6
severity
ISO
RGD
PMID:11912252
RGD:1600675
NCBI chr 5:69,174,411...69,245,801
Ensembl chr 5:74,216,244...74,288,588
G
CASR
calcium sensing receptor
ISO
protein:decreased expression:epigastric artery (human)
RGD
PMID:17537980
RGD:7205455
NCBI chr 3:119,278,071...119,383,901
Ensembl chr 3:126,252,765...126,285,268
G
CAT
catalase
ISO
CTD Direct Evidence: marker/mechanism protein: decreased expression :kidney
CTD RGD
PMID:16518626 PMID:19420110 PMID:20007347
RGD:6892947
NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
G
CBR1
carbonyl reductase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26282591
NCBI chr21:22,440,726...22,443,950
Ensembl chr21:35,800,177...35,803,458
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CCL2
C-C motif chemokine ligand 2
treatment susceptibility
ISO
protein:increased expression:renal proximal tubule (rat) CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:-2518A>G (human)
RGD CTD
PMID:12080327 PMID:17982227 PMID:18797164 PMID:19420110 PMID:19539174
RGD:2306990 RGD:2307007 RGD:8549739
NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
G
CCL5
C-C motif chemokine ligand 5
ISO
mRNA:increased expression:kidney cortex (rat)
RGD
PMID:19535570
RGD:4889989
NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
G
CCR1
C-C motif chemokine receptor 1
ISO
associated with Candidiasis, Invasive;
RGD
PMID:22916017
RGD:7241817
NCBI chr 3:46,107,526...46,114,229
Ensembl chr 3:47,214,688...47,215,755
G
CCR5
C-C motif chemokine receptor 5
ISO
mRNA:increased expression:kidney cortex (rat)
RGD
PMID:19535570
RGD:4889989
NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379
G
CD2AP
CD2 associated protein
ISO
MouseDO
NCBI chr 6:47,065,284...47,210,746
Ensembl chr 6:48,328,863...48,474,163
G
CD40
CD40 molecule
severity treatment
ISO
protein:increased expression:plasma
RGD
PMID:12941150 PMID:20846521
RGD:7248709 RGD:7248723
NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
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CD40LG
CD40 ligand
ISO
protein:increased expression:plasma
RGD
PMID:19019166
RGD:7248427
NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202
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CD68
CD68 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19539174
NCBI chr17:7,610,725...7,613,696
Ensembl chr17:7,596,947...7,599,981
G
CFB
complement factor B
severity
ISO
RGD
PMID:1837062 PMID:17522263
RGD:7242704 RGD:7242753
NCBI chr 6:31,606,716...31,612,782
G
CHGA
chromogranin A
ISO
associated with Hypertension;DNA:polymorphisms, haplotypes:promoter, 3' utr:multiple protein:increased expression:serum
RGD
PMID:18235090 PMID:20730520
RGD:6906898 RGD:6906903
NCBI chr14:73,555,834...73,568,547
Ensembl chr14:92,895,450...92,908,159
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COL1A1
collagen type I alpha 1 chain
ISO
RGD
PMID:25782334
RGD:11041185
NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
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COL3A1
collagen type III alpha 1 chain
ISO
DNA:polymorphism: :p.I1205V (human)
RGD
PMID:19424605
RGD:7257553
NCBI chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956
G
COL4A3
collagen type IV alpha 3 chain
ISO
RGD
PMID:19357112
RGD:7242047
NCBI chr2B:114,410,703...114,559,336
Ensembl chr2B:233,294,783...233,371,021
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COL4A4
collagen type IV alpha 4 chain
ISO
ClinVar Annotator: match by term: Stage 5 chronic kidney disease
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr2B:114,227,135...114,410,564
Ensembl chr2B:233,065,678...233,205,892
G
CPT1A
carnitine palmitoyltransferase 1A
ISO
CTD Direct Evidence: marker/mechanism protein:decreased expression:kidney (rat)
CTD RGD
PMID:19878707
RGD:2326081
NCBI chr11:63,841,028...63,928,242
Ensembl chr11:67,144,736...67,205,481
G
CRP
C-reactive protein
disease_progression
ISO
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:19539174 PMID:22865783
RGD:6906886
NCBI chr 1:135,062,102...135,064,402
G
CSF1
colony stimulating factor 1
ISO
protein:increased expression:plasma
RGD
PMID:11340249
RGD:7257586
NCBI chr 1:112,555,755...112,575,894
Ensembl chr 1:127,764,916...127,781,943
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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 chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
G
CXCR1
C-X-C motif chemokine receptor 1
ISO
RGD
PMID:20649681
RGD:7207863
NCBI chr2B:105,429,576...105,433,243
Ensembl chr2B:224,028,838...224,029,890
G
CXCR2
C-X-C motif chemokine receptor 2
ISO
DNA:polymorphism: :1208C>T (human)
RGD
PMID:23615182
RGD:7257672
NCBI chr2B:105,387,198...105,400,533
Ensembl chr2B:223,997,066...223,998,148
G
CYP1A1
cytochrome P450 family 1 subfamily A member 1
ISO
mRNA, protein:decreased expression:intestine DNA:polymorphisms:exon, 3' utr:3801T>C (rs4646903), p.I462V (rs1048943) (human)
RGD
PMID:12039987 PMID:23619522
RGD:7257728 RGD:7296923
NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636
G
CYP2B6
cytochrome P450 family 2 subfamily B member 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15248218
NCBI chr19:38,003,083...38,028,980
Ensembl chr19:46,509,370...46,534,672
G
CYP2C19
cytochrome P450 family 2 subfamily C member 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15248218
NCBI chr10:91,375,255...91,465,215
Ensembl chr10:94,884,472...94,970,065
G
CYP2C8
cytochrome P450 family 2 subfamily C member 8
ISO
DNA:polymorphisms: :
RGD
PMID:18769365
RGD:7243146
NCBI chr10:91,646,387...91,679,998
Ensembl chr10:95,157,661...95,186,620
G
CYP3A4
cytochrome P450 family 3 subfamily A member 4
ISO
mRNA, protein:decreased expression:intestine
RGD
PMID:12039987
RGD:7296923
NCBI chr 7:91,797,037...91,824,696
Ensembl chr 7:105,230,666...105,258,401
G
DDC
dopa decarboxylase
ISO
protein:altered activity:renal cortex (rat)
RGD
PMID:19167406
RGD:5128880
NCBI chr 7:51,101,169...51,206,031
Ensembl chr 7:51,345,228...51,449,710
G
DRD1
dopamine receptor D1
treatment
ISO
RGD
PMID:18402547
RGD:7248448
NCBI chr 5:170,787,115...170,792,383
Ensembl chr 5:177,688,917...177,690,257
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 chr11:108,289,838...108,357,174
Ensembl chr11:112,132,703...112,198,935
G
EDN1
endothelin 1
ISO
mRNA:increased expression:kidney (rat)
RGD
PMID:8441230
RGD:4144849
NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545
G
ENPP1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
Associated with Type 2 diabetes
RGD
PMID:18184924
RGD:6906927
NCBI chr 6:129,591,858...129,673,000
Ensembl chr 6:133,698,640...133,783,644
G
EPHX2
epoxide hydrolase 2
disease_progression
ISO
RGD
PMID:20694143
RGD:5688726
NCBI chr 8:26,761,090...26,818,436
Ensembl chr 8:23,964,094...24,017,749
G
EPO
erythropoietin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16707910
NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974
G
EPOR
erythropoietin receptor
ISO
protein:decreased expression:heart
RGD
PMID:27468524
RGD:11532749
NCBI chr19:10,925,148...10,931,955
Ensembl chr19:11,635,248...11,642,383
G
F2
coagulation factor II, thrombin
treatment
ISO
RGD
PMID:22473220
RGD:7387323
NCBI chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157
G
F5
coagulation factor V
ISO
DNA:mutation: :1691G>A(human)
RGD
PMID:19520684
RGD:6893522
NCBI chr 1:144,996,757...145,070,046
Ensembl chr 1:148,718,897...148,790,915
G
FABP1
fatty acid binding protein 1
ameliorates
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19878707
RGD:2326081
NCBI chr2A:87,256,032...87,303,505
Ensembl chr2A:89,165,315...89,170,448
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 4:111,505,269...111,510,197
Ensembl chr 4:122,055,544...122,060,461
G
FASN
fatty acid synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19878707
NCBI chr17:76,483,108...76,503,148
Ensembl chr17:82,187,516...82,205,647
G
FCGR2B
Fc gamma receptor IIb
ISO
RGD
PMID:15266033
RGD:7240530
NCBI chr 1:137,074,342...137,090,962
Ensembl chr 1:140,882,043...140,890,637
G
FGB
fibrinogen beta chain
treatment
ISO
associated with hypertension;DNA:polymorphism: :-455G>A (human)
RGD
PMID:19352213
RGD:7175505
NCBI chr 4:146,929,561...146,937,665
Ensembl chr 4:158,747,659...158,755,766
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FN1
fibronectin 1
ISO
protein:decreased expression:plasma
RGD
PMID:6665521
RGD:7205701
NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003
G
GATA3
GATA binding protein 3
ISO
ClinVar Annotator: match by term: Stage 5 chronic kidney disease
ClinVar
PMID:25741868
NCBI chr10:8,075,951...8,105,573
Ensembl chr10:8,064,207...8,086,272
G
GCKR
glucokinase regulator
ISO
DNA: snp: rs1260326
RGD
PMID:21980298
RGD:7242279
NCBI chr2A:27,497,938...27,530,650
Ensembl chr2A:27,587,077...27,613,927
G
GHRL
ghrelin and obestatin prepropeptide
ISO
RGD
PMID:18809976
RGD:7242553
NCBI chr 3:10,221,829...10,229,229
Ensembl chr 3:10,573,537...10,580,723
G
GLO1
glyoxalase I
severity
ISO
DNA:SNP: :419C>A (human)
RGD
PMID:20185929
RGD:7242570
NCBI chr 6:38,247,881...38,275,098
Ensembl chr 6:39,434,746...39,461,971
G
GSR
glutathione-disulfide reductase
ISO
protein:increased activity:lymphocyte: protein:increased activity:blood:
RGD
PMID:6463365 PMID:20181004
RGD:7257547 RGD:7257560
NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557
G
GSTM1
glutathione S-transferase mu 1
ISO
RGD
PMID:24339523
RGD:14700960
Ensembl chr 1:127,979,238...128,010,411
G
GTPBP4
GTP binding protein 4
ISO
RGD
PMID:11316846
RGD:632611
NCBI chr10:1,023,295...1,055,818
Ensembl chr10:1,071,809...1,103,521
G
GUCA2B
guanylate cyclase activator 2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15780094
NCBI chr 1:41,452,722...41,455,192
Ensembl chr 1:42,832,196...42,835,425
G
HAMP
hepcidin antimicrobial peptide
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:plasma mRNA:increased expression:liver
CTD RGD
PMID:16929540 PMID:19212416 PMID:20631677
RGD:11041611 RGD:11041622
NCBI chr19:32,228,701...32,231,494
Ensembl chr19:40,964,445...40,968,861
G
HBEGF
heparin binding EGF like growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21937979
NCBI chr 5:135,699,553...135,713,366
Ensembl chr 5:141,816,402...141,830,531
G
HMGCR
3-hydroxy-3-methylglutaryl-CoA reductase
ISO
CTD Direct Evidence: marker/mechanism protein:decreased expression:kidney (rat) associated with Hypertension
CTD RGD
PMID:19878707 PMID:21119529
RGD:2326081 RGD:5508686
NCBI chr 5:39,936,630...39,961,519
Ensembl chr 5:40,548,919...40,573,785
G
HMOX1
heme oxygenase 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:22622455
NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063
G
ICAM1
intercellular adhesion molecule 1
ISO
protein:increased expression:kidney (rat)
RGD
PMID:20820841
RGD:4145364
NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
G
IGF1
insulin like growth factor 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:10198369
NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
G
IL1A
interleukin 1 alpha
no_association
ISO
DNA:SNP DNA:SNP, insertion/deletion:intron, 3' utr:rs1516792-3, rs16347-2 (human) DNA:SNPs, deletion, haplotypes:3' utr:multiple (human)
RGD
PMID:12631337 PMID:12837270 PMID:20551628
RGD:6907070 RGD:6907105 RGD:6907106
NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
G
IL1B
interleukin 1 beta
no_association
ISO
DNA:SNP protein:increased expression:plasma (rat)
RGD
PMID:20199183 PMID:20551628 PMID:22031851
RGD:6907070 RGD:7175302 RGD:7175346
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
G
IL1RN
interleukin 1 receptor antagonist
disease_progression susceptibility
ISO
DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) DNA:polymorphism:exon:g.14709C>T rs315952 (human) DNA:polymorphism:intron:IVS6+327A>G rs452204 (human) DNA:repeats:intron:IVS2+914_1000dup IL1RN*1 (human) protein:increased expression:serum (human)
RGD
PMID:12837270 PMID:16556139 PMID:16766392 PMID:17224277 PMID:20551628
RGD:6907070 RGD:6907105 RGD:6907131 RGD:6907368 RGD:6907370
NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
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IL20
interleukin 20
ISO
protein:increased expression:multiple organs protein:increased expression:serum
RGD
PMID:18639518
RGD:5147394
NCBI chr 1:182,468,571...182,472,440
Ensembl chr 1:186,747,086...186,750,952
G
IL6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19539174
NCBI chr 7:23,415,922...23,420,767
G
INSIG2
insulin induced gene 2
ISO
protein:decreased expression:kidney (rat)
RGD
PMID:19878707
RGD:2326081
NCBI chr2B:5,046,971...5,068,757
Ensembl chr2B:118,632,402...118,652,647
G
IRS1
insulin receptor substrate 1
ISO
protein:decreased tyrosine phosphorylation:aorta
RGD
PMID:22942179
RGD:7207055
NCBI chr2B:113,973,191...114,041,127
Ensembl chr2B:232,849,239...232,852,967
G
ITGA8
integrin subunit alpha 8
ISO
associated with Polycystic Kidney, Autosomal Dominant;DNA:polymorphism: :-414T>C(human)
RGD
PMID:18277079
RGD:7257723
NCBI chr10:15,838,320...16,045,206
Ensembl chr10:16,114,999...16,321,360
G
ITGB3
integrin subunit beta 3
ISO
associated with Hypertension;DNA:polymorphism
RGD
PMID:19368146
RGD:6907396
NCBI chr17:10,134,450...10,194,596
Ensembl chr17:10,353,111...10,392,382
G
KEAP1
kelch like ECH associated protein 1
ISO
protein:increased expression:renal cortex, cytosol (rat)
RGD
PMID:20007347
RGD:6892947
NCBI chr19:10,037,544...10,055,091
Ensembl chr19:10,701,303...10,717,604
G
KL
klotho
ISO
mRNA:decreased expression:kidney: mRNA,protein:decreased expression:kidney:
RGD
PMID:9731228 PMID:11162628
RGD:10403042 RGD:10403067
NCBI chr13:14,272,463...14,321,122
Ensembl chr13:32,702,336...32,751,458
G
KLK1
kallikrein 1
ISO
RGD
PMID:11849458
RGD:1581753
NCBI chr19:47,784,368...47,789,004
Ensembl chr19:56,677,579...56,682,216
G
LCAT
lecithin-cholesterol acyltransferase
ISO
RGD
PMID:15280162
RGD:1581769
NCBI chr16:48,278,137...48,285,305
Ensembl chr16:67,668,646...67,673,127
G
LCN2
lipocalin 2
onset
ISO
protein:increased expression:urine:
RGD
PMID:22542304
RGD:7245503
NCBI chr 9:99,259,278...99,274,494
Ensembl chr 9:127,940,799...127,944,798
G
LEP
leptin
ISO
protein:increased expression:serum (human)
RGD
PMID:9294834
RGD:10053636
NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519
G
LIPC
lipase C, hepatic type
ISO
protein, mRNA:decreased expression:hepatocytes, liver (rat)
RGD
PMID:8636395
RGD:2308788
NCBI chr15:37,363,507...37,537,723
Ensembl chr15:55,814,017...55,847,005
G
LIPJ
lipase family member J
ISO
ClinVar Annotator: match by term: Stage 5 chronic kidney disease
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:85,307,536...85,330,911
Ensembl chr10:88,816,492...88,832,860
G
LOC100982531
cytochrome b-245 heavy chain
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:15550752 PMID:19420110
RGD:1599682
NCBI chr X:30,230,394...30,267,379
Ensembl chr X:37,939,704...37,973,183
G
LOC100986914
cytochrome b-245 light chain
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19420110
RGD:2306994
NCBI chr16:69,356,396...69,364,225
Ensembl chr16:89,016,349...89,024,719
G
LPIN1
lipin 1
ISO
mRNA:increased expression:skeletal muscle
RGD
PMID:14718385
RGD:1641826
NCBI chr2A:11,664,727...11,815,497
Ensembl chr2A:11,857,961...11,961,551
G
LPL
lipoprotein lipase
ISO
RGD
PMID:22009636
RGD:6909179
NCBI chr 8:19,164,541...19,193,100
Ensembl chr 8:16,113,415...16,142,966
G
LRP2
LDL receptor related protein 2
ISO
mRNA:decreased expression:kidney
RGD
PMID:15266031
RGD:1641836
NCBI chr2B:56,407,871...56,640,471
Ensembl chr2B:173,873,767...174,103,697
G
MBL2
mannose binding lectin 2
ISO
associated with Lupus Erythematosus, Systemic;DNA:polymorphisms
RGD
PMID:16801331
RGD:6903261
NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
G
MLXIPL
MLX interacting protein like
ameliorates
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19878707
RGD:2326081
Ensembl chr 7:80,745,765...80,776,153
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:7206856 RGD:7207064
NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104
G
MMP10
matrix metallopeptidase 10
ISO
associated with Hypertension; protein:increased expression:plasma (human)
RGD
PMID:19886850
RGD:7207051
NCBI chr11:97,710,819...97,721,263
Ensembl chr11:101,201,665...101,212,103
G
MMP2
matrix metallopeptidase 2
ISO
associated with Hypertension; protein:increased expression:plasma (human)
RGD
PMID:19886850
RGD:7207051
NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
G
MMP3
matrix metallopeptidase 3
severity
ISO
DNA:insertion, haplotype:promoter:g.-1613insA (human)
RGD
PMID:19221176
RGD:7207064
NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354
G
MPO
myeloperoxidase
disease_progression
ISO
RGD
PMID:20638167
RGD:6909184
NCBI chr17:52,333,882...52,357,838
Ensembl chr17:57,201,073...57,212,111
G
MSC
musculin
susceptibility
ISO
associated with type 1 diabetes mellitus;DNA:SNP:5'UTR:rs9298190(human)
RGD
PMID:19929986
RGD:596936222
NCBI chr 8:68,365,708...68,368,628
G
MSR1
macrophage scavenger receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19878707
NCBI chr 8:15,335,795...15,421,472
Ensembl chr 8:12,088,873...12,175,927
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) associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human) DNA:transitions, transversion, haplotype:cds:g.677C>T, g.1298A>C, g.1793G>A (human)
RGD
PMID:14737040 PMID:17899317 PMID:19520069 PMID:19520684 PMID:25664255
RGD:14696732 RGD:6893522 RGD:6893523 RGD:6893524 RGD:6893579
NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
G
MTOR
mechanistic target of rapamycin kinase
treatment
ISO
RGD
PMID:22427849
RGD:10040968
NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
G
MYH9
myosin heavy chain 9
ISO
associated with diabetes mellitus,type 2;DNA:SNPs: : associated with hypertension;DNA:polymorphisms:multiple: CTD Direct Evidence: marker/mechanism associated with diabetes mellitus, type 2;DNA:SNPs: : associated with hypertension, glomerulosclerosis, focal segmental;DNA:SNPs: :rs4821480, rs2032487, rs4821481(human) DNA:SNPs:multiple:
RGD CTD
PMID:18794854 PMID:18794856 PMID:19177153 PMID:19567477 PMID:20144966 PMID:21968013 More...
RGD:6903237 RGD:6903238 RGD:6903239 RGD:6903243 RGD:6903256
NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618
G
NAT2
N-acetyltransferase 2
ISO
mRNA,protein:decreased expression:liver:
RGD
PMID:20007296
RGD:11533637
NCBI chr 8:17,606,445...17,623,397
Ensembl chr 8:14,575,455...14,576,327
G
NCF1
neutrophil cytosolic factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19420110
Ensembl chr 7:81,917,167...81,932,589
G
NFKB1
nuclear factor kappa B subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19420110
NCBI chr 4:94,925,048...95,040,849
Ensembl chr 4:105,589,062...105,704,098
G
NGF
nerve growth factor
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19169037 PMID:24244623
RGD:7242783
NCBI chr 1:87,223,597...87,276,759
G
NOS1
nitric oxide synthase 1
treatment
ISO
protein:decreased expression:kidney cortex
RGD
PMID:17200156 PMID:23185775
RGD:1642147 RGD:7257669
NCBI chr12:114,784,232...114,938,385
Ensembl chr12:118,163,655...118,314,005
G
NOS3
nitric oxide synthase 3
susceptibility
ISO
DNA:duplication, snp:intron, cds:g.IVS4?-?+27, p.E298D (human) protein:decreased expression:glomerulus
RGD
PMID:12701818 PMID:18089446
RGD:2292109 RGD:7777097
NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
G
NOX4
NADPH oxidase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19420110
NCBI chr11:84,330,362...84,496,755
G
NPHS1
NPHS1 adhesion molecule, nephrin
disease_progression
ISO
mRNA;increased expression:urine (rat)
RGD
PMID:19389856
RGD:38599006
NCBI chr19:32,742,802...32,770,600
Ensembl chr19:41,492,444...41,518,471
G
NPPB
natriuretic peptide B
ISO
protein:increased expression:plasma:
RGD
PMID:7606877
RGD:7246912
NCBI chr 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995
G
NPPC
natriuretic peptide C
ISO
protein:increased expression:plasma protein:increased expression:plasma (human)
RGD
PMID:8117275 PMID:8743538
RGD:1580770 RGD:1642297
NCBI chr2B:119,148,774...119,153,381
Ensembl chr2B:237,936,939...237,941,244
G
NR3C1
nuclear receptor subfamily 3 group C member 1
ISO
RGD
PMID:18591458
RGD:7174716
NCBI chr 5:138,634,278...139,089,171
Ensembl chr 5:144,741,452...144,865,269
G
OLR1
oxidized low density lipoprotein receptor 1
ISO
mRNA, protein:increased expression:kidney (rat)
RGD
PMID:12661921
RGD:1580992
NCBI chr12:10,196,712...10,210,432
Ensembl chr12:10,445,202...10,461,071
G
PAX2
paired box 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16631587
NCBI chr10:97,344,978...97,429,086
Ensembl chr10:100,822,676...100,904,028
G
PGF
placental growth factor
ISO
RGD
PMID:16543713
RGD:1642390
NCBI chr14:55,494,152...55,508,066
Ensembl chr14:74,338,976...74,352,964
G
PKD1
polycystin 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Stage 5 chronic kidney disease
ClinVar
PMID:25741868
NCBI chr16:604,366...605,560
G
PLA2G7
phospholipase A2 group VII
ISO
plasma:increased expression:plasma
RGD
PMID:16421163
RGD:7248787
NCBI chr 6:46,264,262...46,318,487
Ensembl chr 6:47,558,861...47,590,212
G
PLAU
plasminogen activator, urokinase
treatment severity
ISO
protein:increased expression, increased activity:kidney (rat) protein:increased expression:plasma (human)
RGD
PMID:15506291 PMID:17869326 PMID:19926968 PMID:22683425
RGD:6483806 RGD:7241081 RGD:7241218 RGD:7241279
NCBI chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136
G
PLAUR
plasminogen activator, urokinase receptor
ISO
RGD
PMID:19926968
RGD:6483806
NCBI chr19:40,588,100...40,616,479
Ensembl chr19:49,197,341...49,222,561 Ensembl chr19:49,197,341...49,222,561
G
POSTN
periostin
ISO
mRNA,protein:increased expression,increased secretion:kidney,urine:
RGD
PMID:22167593
RGD:10040972
NCBI chr13:18,779,297...18,815,207
Ensembl chr13:37,368,030...37,407,212
G
PPARA
peroxisome proliferator activated receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19878707
Ensembl chr22:45,218,364...45,302,970
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 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060
G
PTGER4
prostaglandin E receptor 4
treatment
ISO
RGD
PMID:16871242
RGD:10003092
NCBI chr 5:69,686,906...69,700,739
Ensembl chr 5:74,731,470...74,745,148
G
PTGS1
prostaglandin-endoperoxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19420110
NCBI chr 9:93,495,365...93,517,557
Ensembl chr 9:121,837,095...121,859,283
G
PTGS2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19420110
NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
G
PTH
parathyroid hormone
severity
ISO
protein:increased expression:serum (human) protein:increased expression:serum (rat)
RGD
PMID:23243213 PMID:23548814
RGD:7242564 RGD:7242692
NCBI chr11:13,653,777...13,657,901
Ensembl chr11:13,347,838...13,351,802
G
RELA
RELA proto-oncogene, NF-kB subunit
ISO
protein:increased expression:kidney CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:18077597 PMID:19420110
RGD:2298859
NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868
G
RETN
resistin
severity
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:serum
CTD RGD
PMID:19539174 PMID:22421264
RGD:7207074
NCBI chr19:6,958,536...6,960,032
Ensembl chr19:7,812,942...7,814,909
G
RNLS
renalase, FAD dependent amine oxidase
ISO
ClinVar Annotator: match by term: Stage 5 chronic kidney disease
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:84,996,999...85,304,240
Ensembl chr10:88,503,683...88,808,990
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SCAF1
SR-related CTD associated factor 1
ISO
protein:increased expression:kidney (rat)
RGD
PMID:19878707
RGD:2326081
NCBI chr19:46,656,715...46,673,264
Ensembl chr19:55,578,644...55,592,455
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SCAP
SREBF chaperone
multiple interactions
ISO
RGD
PMID:19878707
RGD:2326081
NCBI chr 3:47,314,535...47,379,455
Ensembl chr 3:48,414,012...48,479,845
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SCARB1
scavenger receptor class B member 1
ameliorates
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19878707
RGD:2326081
NCBI chr12:122,293,803...122,455,314
Ensembl chr12:126,659,532...126,694,767
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SELL
selectin L
no_association
ISO
RGD
PMID:22119815
RGD:7175303
NCBI chr 1:145,173,700...145,194,927
Ensembl chr 1:148,895,373...148,916,393
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SERPINE1
serpin family E member 1
treatment
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:19420110 PMID:26903149
RGD:11073683
NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
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SLC22A2
solute carrier family 22 member 2
ISO
protein:decreased expression:kidney, plasma membrane
RGD
PMID:12110012 PMID:23280877
RGD:7243177 RGD:7243883
NCBI chr 6:158,058,226...158,150,917
Ensembl chr 6:163,065,317...163,158,931
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SLC34A1
solute carrier family 34 member 1
ISO
mRNA:decreased expression:renal cortex (rat)
RGD
PMID:15452708
RGD:7242930
NCBI chr 5:172,685,862...172,700,440
Ensembl chr 5:179,748,492...179,762,975
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SLC9A5
solute carrier family 9 member A5
resistance
ISO
DNA:polymorphism
RGD
PMID:10642288
RGD:1643221
NCBI chr16:47,582,950...47,617,710
Ensembl chr16:66,983,611...67,005,957
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SOAT2
sterol O-acyltransferase 2
ISO
RGD
PMID:12217884
RGD:625687
NCBI chr12:35,632,018...35,653,227
Ensembl chr12:36,413,954...36,434,074
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SREBF1
sterol regulatory element binding transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19878707
NCBI chr17:33,458,196...33,484,643
Ensembl chr17:38,405,794...38,432,045
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SREBF2
sterol regulatory element binding transcription factor 2
ISO
mRNA, protein:increased expression:liver CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16814791 PMID:19878707
RGD:2308825
NCBI chr22:22,725,790...22,799,749
Ensembl chr22:40,811,459...40,884,947
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TBX21
T-box transcription factor 21
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26970513
NCBI chr17:9,791,008...9,803,894
Ensembl chr17:9,973,920...9,985,660
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TGFB1
transforming growth factor beta 1
ISO
mRNA, protein:increased expression:kidney CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:10919844 PMID:19420110
RGD:7394838
NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
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THBD
thrombomodulin
ISO
protein:increased expression:plasma
RGD
PMID:21873362 PMID:22129968
RGD:5684979 RGD:5684981
NCBI chr20:22,992,341...22,996,415
Ensembl chr20:23,345,917...23,347,812
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TLR2
toll like receptor 2
ISO
RGD
PMID:20729266
RGD:7240546
NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
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TLR4
toll like receptor 4
ISO
RGD
PMID:20729266
RGD:7240546
NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
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TNF
tumor necrosis factor
ISO
associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:19539174 PMID:22266663
RGD:7245510
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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TNFRSF11B
TNF receptor superfamily member 11b
severity
ISO
RGD
PMID:21479768
RGD:7205485
NCBI chr 8:115,614,778...115,643,387
Ensembl chr 8:118,134,305...118,162,422
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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 chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613
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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 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646
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UCP2
uncoupling protein 2
susceptibility
ISO
DNA:deletion DNA:polymorphism: :-866G>A (human)
RGD
PMID:18242170 PMID:19406964
RGD:7175298 RGD:7175299
NCBI chr11:69,047,397...69,056,056
Ensembl chr11:72,354,529...72,363,185
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VWF
von Willebrand factor
treatment disease_progression
ISO
protein:increased oxidation:plasma
RGD
PMID:21378155 PMID:22091998 PMID:22189209
RGD:7205641 RGD:7205646 RGD:7205649
NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153
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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 chr10:75,581,794...75,829,748
Ensembl chr10:78,294,867...78,492,475
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WT1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Frasier syndrome
OMIM ClinVar
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 chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249
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