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 7:28,592,673...28,661,799
Ensembl chr 7:28,592,673...28,661,765
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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 chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
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Agtr1a
angiotensin II receptor, type 1a
disease_progression
ISO
DNA:polymorphism: :1166A>C (human)
RGD
PMID:12089373 PMID:12832734
RGD:6903863 , RGD:8548869
NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850
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Agtr2
angiotensin II receptor, type 2
ISO
RGD
PMID:12089373
RGD:6903863
NCBI chr X:21,350,863...21,355,072
Ensembl chr X:21,350,783...21,355,403
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Ahr
aryl-hydrocarbon receptor
IEP
mRNA, protein:increased expression:heart (mouse)
RGD
PMID:31746392
RGD:401793746
NCBI chr12:35,547,978...35,584,988
Ensembl chr12:35,547,973...35,585,037
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Akap12
A kinase anchor protein 12
susceptibility
ISO
DNA:polymorphism: :rs756009(human)
RGD
PMID:19724895
RGD:14349027
NCBI chr10:4,216,329...4,309,471
Ensembl chr10:4,216,380...4,309,470
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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 9:22,243,305...22,302,132
Ensembl chr 9:22,243,308...22,300,484
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Aoc3
amine oxidase, copper containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23154672
NCBI chr11:101,221,432...101,230,256
Ensembl chr11:101,221,431...101,232,764
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Apoa1
apolipoprotein A-I
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868 PMID:28492532 PMID:32723786
NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764
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Apoa4
apolipoprotein A-IV
disease_progression
ISO
protein:increased expression:blood plasma (human)
RGD
PMID:21569504
RGD:5685637
NCBI chr 9:46,152,142...46,154,756
Ensembl chr 9:46,151,994...46,154,757
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Apoc3
apolipoprotein C-III
ISO
protein:increased expression:plasma
RGD
PMID:21829457 PMID:21297177
RGD:7207207 , RGD:7207209
NCBI chr 9:46,144,348...46,146,934
Ensembl chr 9:46,144,231...46,146,934
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Arhgdia
Rho GDP dissociation inhibitor alpha
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868
NCBI chr11:120,468,925...120,472,450
Ensembl chr11:120,468,930...120,472,450
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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 1:71,596,315...71,618,562
Ensembl chr 1:71,596,309...71,618,790
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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 1:156,157,985...156,248,743
Ensembl chr 1:156,151,079...156,248,729
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Azgp1
alpha-2-glycoprotein 1, zinc
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 chr 5:137,979,783...137,988,495
Ensembl chr 5:137,979,782...137,988,495
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B2m
beta-2 microglobulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:37921072
NCBI chr 2:121,978,168...121,983,563
Ensembl chr 2:121,978,167...121,983,564
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Cbr1
carbonyl reductase 1
ISO
mRNA, protein:decreased expression:liver
RGD
PMID:25332430
RGD:11565077
NCBI chr16:93,404,752...93,407,226
Ensembl chr16:93,402,741...93,407,393
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Cfh
complement component factor h
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868
NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502
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Cfhr1
complement factor H-related 1
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868
NCBI chr 1:139,474,802...139,487,960
Ensembl chr 1:139,474,791...139,488,010
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Cfi
complement component factor i
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:17084897 PMID:20301541 PMID:25741868 PMID:28492532
NCBI chr 3:129,630,432...129,668,978
Ensembl chr 3:129,629,533...129,668,981
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Clu
clusterin
ISO
associated with Obesity;protein:increased expression:urine
RGD
PMID:24325231
RGD:9068427
NCBI chr14:66,206,093...66,218,992
Ensembl chr14:66,205,932...66,218,996
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Col4a1
collagen, type IV, alpha 1
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826
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Col4a3
collagen, type IV, alpha 3
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 PMID:37248651 More...
NCBI chr 1:82,564,647...82,699,778
Ensembl chr 1:82,564,642...82,699,780
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Col4a4
collagen, type IV, alpha 4
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 1:82,426,140...82,564,570
Ensembl chr 1:82,426,144...82,564,570
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Col6a3
collagen, type VI, alpha 3
ISO
DNA:SNP:CDS:E1386K (rs146092501) (human)
RGD
PMID:30226566
RGD:401851058
NCBI chr 1:90,694,582...90,771,710
Ensembl chr 1:90,693,645...90,771,693
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Cpb2
carboxypeptidase B2
ISO
DNA:polymorphism:cds :p.A147T(rs3742264)(human)
RGD
PMID:19056482
RGD:7243119
NCBI chr14:75,479,727...75,520,995
Ensembl chr14:75,479,727...75,520,995
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Cst3
cystatin C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32450046
NCBI chr 2:148,713,642...148,717,432
Ensembl chr 2:148,713,642...148,717,612
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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 chr 2:13,281,149...13,496,687
Ensembl chr 2:13,281,149...13,496,624
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Cyp1b1
cytochrome P450, family 1, subfamily b, polypeptide 1
IEP
mRNA, protein:increased expression:heart (mouse)
RGD
PMID:31746392
RGD:401793746
NCBI chr17:80,014,369...80,022,490
Ensembl chr17:80,008,966...80,022,490
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Dgat1
diacylglycerol O-acyltransferase 1
ISO
protein:decreased expression:liver:
RGD
PMID:23045433
RGD:10400847
NCBI chr15:76,386,215...76,396,167
Ensembl chr15:76,386,215...76,396,153
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Dgat2
diacylglycerol O-acyltransferase 2
ISO
protein:decreased expression:liver:
RGD
PMID:23045433
RGD:10400847
NCBI chr 7:98,802,870...98,831,920
Ensembl chr 7:98,802,865...98,831,926
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Dnm1l
dynamin 1-like
treatment
ISO
RGD
PMID:27801955
RGD:12738369
NCBI chr16:16,130,092...16,176,863
Ensembl chr16:16,130,094...16,176,823
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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 1:132,345,127...132,394,697
Ensembl chr 1:132,345,293...132,394,696
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Ehhadh
enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868 PMID:28492532
NCBI chr16:21,580,035...21,606,589
Ensembl chr16:21,580,037...21,606,557
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Ermp1
endoplasmic reticulum metallopeptidase 1
IAGP
MouseDO
NCBI chr19:29,587,276...29,625,815
Ensembl chr19:29,585,614...29,625,815
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Etfb
electron transferring flavoprotein, beta polypeptide
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:24215330 PMID:25741868 PMID:28492532
NCBI chr 7:43,093,496...43,107,224
Ensembl chr 7:43,093,507...43,107,224
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Fgf21
fibroblast growth factor 21
ISO
protein:increased expression:serum:
RGD
PMID:22494291
RGD:10401925
NCBI chr 7:45,263,314...45,264,914
Ensembl chr 7:45,263,310...45,264,914
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Fgf23
fibroblast growth factor 23
ISO
protein:increased expression:serum:
RGD
PMID:20016468
RGD:10044210
NCBI chr 6:127,049,865...127,059,257
Ensembl chr 6:127,049,865...127,058,371
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Fis1
fission, mitochondrial 1
treatment
ISO
RGD
PMID:27801955
RGD:12738369
NCBI chr 5:136,982,129...136,995,088
Ensembl chr 5:136,982,129...136,995,088
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Fn1
fibronectin 1
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:71,624,632...71,692,439
Ensembl chr 1:71,624,679...71,692,359
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Frem1
Fras1 related extracellular matrix protein 1
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:82,816,157...82,970,743
Ensembl chr 4:82,816,164...82,970,576
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Ganab
alpha glucosidase 2 alpha neutral subunit
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868 PMID:28492532
NCBI chr19:8,875,440...8,894,098
Ensembl chr19:8,875,435...8,894,036
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Gja1
gap junction protein, alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32045570
NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609
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Gp1ba
glycoprotein 1b, alpha polypeptide
exacerbates
ISO
RGD
PMID:11314805
RGD:42722629
NCBI chr11:70,529,928...70,534,812
Ensembl chr11:70,529,948...70,532,862
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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 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542
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Grp
gastrin releasing peptide
ISO
mRNA, protein:increased expression:aorta, plasma (human)
RGD
PMID:32192106
RGD:329961569
NCBI chr18:66,005,826...66,019,670
Ensembl chr18:66,005,891...66,019,667
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Havcr1
hepatitis A virus cellular receptor 1
ISO
RGD
PMID:22269876
RGD:7245952
NCBI chr11:46,630,644...46,670,405
Ensembl chr11:46,625,907...46,670,405
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Hmgcr
3-hydroxy-3-methylglutaryl-Coenzyme A reductase
ISO
mRNA, protein:increased expression:liver
RGD
PMID:12841361
RGD:1300058
NCBI chr13:96,785,470...96,807,444
Ensembl chr13:96,785,475...96,807,444
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Hp
haptoglobin
ISO
protein:increased expression:serum
RGD
PMID:18569920
RGD:11041800
NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804
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Il19
interleukin 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24714768
NCBI chr 1:130,860,393...130,873,194
Ensembl chr 1:130,860,393...130,867,852
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Il1b
interleukin 1 beta
ISO IEP
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 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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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 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Inf2
inverted formin, FH2 and WH2 domain containing
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:112,555,121...112,581,991
Ensembl chr12:112,555,218...112,581,991
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Insr
insulin receptor
ISO
protein:decreased phosphorylation:aorta
RGD
PMID:22942179
RGD:7207055
NCBI chr 8:3,200,922...3,329,649
Ensembl chr 8:3,172,061...3,329,617
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Kl
klotho
treatment disease_progression
ISO IMP IEP
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 PMID:21115613
RGD:70544 , RGD:70544 , RGD:10403077 , RGD:10403077 , RGD:10403077
NCBI chr 5:150,876,072...150,917,282
Ensembl chr 5:150,876,072...150,917,282
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Klk1
kallikrein 1
susceptibility
ISO
associated with Vesico-Ureteral Reflux
RGD
PMID:15086490
RGD:1581752
NCBI chr 7:43,874,784...43,879,046
Ensembl chr 7:43,874,784...43,879,042
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Lcn2
lipocalin 2
disease_progression
IMP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24714768 PMID:20921623
RGD:126781837
NCBI chr 2:32,274,649...32,277,751
Ensembl chr 2:32,274,645...32,278,264
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Lepr
leptin receptor
ISO
RGD
PMID:32390513 PMID:27465994
RGD:34888223 , RGD:12911217
NCBI chr 4:101,574,393...101,676,375
Ensembl chr 4:101,574,601...101,672,549
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LOC107983946
Wt1 promoter region
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868
NCBI chr 2:104,956,361...104,957,127
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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 4:31,963,659...32,023,470
Ensembl chr 4:31,964,097...32,023,467
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Mas1
MAS1 oncogene
treatment
ISO
RGD
PMID:24614509
RGD:401793742
NCBI chr17:13,056,981...13,087,037
Ensembl chr17:13,059,966...13,087,030
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Mfn1
mitofusin 1
treatment
ISO
RGD
PMID:27801955
RGD:12738369
NCBI chr 3:32,583,594...32,633,384
Ensembl chr 3:32,583,614...32,633,388
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Mt2
metallothionein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27122239
NCBI chr 8:94,899,246...94,900,195
Ensembl chr 8:94,899,292...94,900,196
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Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:polymorphism:cds:g.677C>T (human)
RGD
PMID:23595572
RGD:7244284
NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
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Myh9
myosin, heavy polypeptide 9, non-muscle
no_association
ISO
RGD
PMID:22956460
RGD:12798515
NCBI chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375
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Nfe2l2
nuclear factor, erythroid derived 2, like 2
treatment
ISO
RGD
PMID:23174956
RGD:10412711
NCBI chr 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985
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Ngf
nerve growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24244623
NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329
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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 chr11:115,054,138...115,072,009
Ensembl chr11:115,054,167...115,072,007
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Nos3
nitric oxide synthase 3, endothelial cell
susceptibility treatment
ISO
mRNA:decreased expression:cortex of kidney (rat)
RGD
PMID:29018182 PMID:29247650
RGD:13450920 , RGD:13504713
NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
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Nphs1
nephrosis 1, 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 7:30,157,259...30,188,048
Ensembl chr 7:30,157,740...30,186,648
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Nphs2
nephrosis 2, 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 1:156,138,105...156,155,605
Ensembl chr 1:156,138,297...156,155,605
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Nppa
natriuretic peptide type A
disease_progression
ISO
protein:increased expression:plasma
RGD
PMID:19052536
RGD:7247723
NCBI chr 4:148,085,179...148,086,531
Ensembl chr 4:148,085,179...148,086,536
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Nppb
natriuretic peptide type B
disease_progression
ISO
RGD
PMID:23725445
RGD:7246908
NCBI chr 4:148,070,264...148,071,662
Ensembl chr 4:148,070,245...148,071,662
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Nqo1
NAD(P)H dehydrogenase, quinone 1
treatment
ISO
RGD
PMID:22227174
RGD:10769366
NCBI chr 8:108,114,856...108,139,012
Ensembl chr 8:108,114,857...108,129,838
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Nr4a1
nuclear receptor subfamily 4, group A, member 1
disease_progression
ISO
RGD
PMID:24722447
RGD:12910103
NCBI chr15:101,151,783...101,172,676
Ensembl chr15:101,152,150...101,172,676
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Opa1
OPA1, mitochondrial dynamin like GTPase
treatment
ISO
RGD
PMID:27801955
RGD:12738369
NCBI chr16:29,398,099...29,481,924
Ensembl chr16:29,398,152...29,473,702
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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 1:93,237,165...93,271,237
Ensembl chr 1:93,236,492...93,271,204
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Pax2
paired box 2
treatment
ISO
human cells in rat model
RGD
PMID:33298161
RGD:155631310
NCBI chr19:44,735,040...44,826,708
Ensembl chr19:44,735,057...44,826,310
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Pcsk2
proprotein convertase subtilisin/kexin type 2
ISO
RGD
PMID:18039782
RGD:6483556
NCBI chr 2:143,388,053...143,658,204
Ensembl chr 2:143,388,076...143,658,205
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Pkd1
polycystin 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:23431072 PMID:25741868 PMID:31589614
NCBI chr17:24,767,657...24,815,457
Ensembl chr17:24,768,808...24,815,482
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Postn
periostin, osteoblast specific factor
ISO
protein:increased secretion:urine: protein:increased expression:kidney:
RGD
PMID:22167593 PMID:22403621
RGD:10040972 , RGD:10041032
NCBI chr 3:54,266,688...54,298,462
Ensembl chr 3:54,268,530...54,298,458
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Ppargc1a
peroxisome proliferative activated receptor, gamma, coactivator 1 alpha
IDA
RGD
PMID:22648295
RGD:7242023
NCBI chr 5:51,611,591...52,273,316
Ensembl chr 5:51,611,592...51,725,068
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Pth
parathyroid hormone
severity treatment
ISO 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 7:112,984,783...112,987,879
Ensembl chr 7:112,984,787...112,987,777
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Rbp4
retinol binding protein 4, plasma
onset
ISO
associated with type 2 diabetes mellitus; protein:increased expression:blood serum (human)
RGD
PMID:21817822
RGD:329853323
NCBI chr19:38,105,068...38,113,769
Ensembl chr19:38,105,077...38,113,729
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Retn
resistin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22421264
NCBI chr 8:3,705,770...3,709,818
Ensembl chr 8:3,705,770...3,710,110
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Rnls
renalase, FAD-dependent amine oxidase
ISO
protein, activity:decreased expression:plasma, heart, kidney:
RGD
PMID:18299506
RGD:7327164
NCBI chr19:33,115,140...33,369,695
Ensembl chr19:33,115,147...33,369,665
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Rtn3
reticulon 3
IAGP
MouseDO
NCBI chr19:7,403,260...7,460,656
Ensembl chr19:7,403,266...7,460,646
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Sall1
spalt like transcription factor 1
treatment
ISO
human cells in rat model
RGD
PMID:33298161
RGD:155631310
NCBI chr 8:89,753,867...89,770,790
Ensembl chr 8:89,753,863...89,770,790
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Serpina3b
serine (or cysteine) peptidase inhibitor, clade A, member 3B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35635602
NCBI chr12:104,094,245...104,105,805
Ensembl chr12:104,094,255...104,105,804
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Shh
sonic hedgehog
ISO IEP
mRNA, protein:increased expression:kidney
RGD
PMID:24744439 PMID:24744439
RGD:12859042 , RGD:12859042
NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254
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Six2
sine oculis-related homeobox 2
treatment
ISO
human cells in rat model
RGD
PMID:33298161
RGD:155631310
NCBI chr17:85,970,276...85,995,682
Ensembl chr17:85,991,705...85,995,702
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Slc19a1
solute carrier family 19 (folate transporter), member 1
ISO
mRNA:decreased expression:multiple (rat)
RGD
PMID:21149507
RGD:7327184
NCBI chr10:76,868,103...76,886,266
Ensembl chr10:76,868,075...76,896,836
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Slc19a2
solute carrier family 19 (thiamine transporter), member 2
ISO
mRNA:decreased expression:liver, heart (rat)
RGD
PMID:21149507
RGD:7327184
NCBI chr 1:164,076,615...164,092,954
Ensembl chr 1:164,076,615...164,092,954
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Slc19a3
solute carrier family 19, member 3
ISO
mRNA:decreased expression:liver, heart, jejunum (rat)
RGD
PMID:21149507
RGD:7327184
NCBI chr 1:82,990,242...83,016,541
Ensembl chr 1:82,990,244...83,016,169
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Slc34a1
solute carrier family 34 (sodium phosphate), member 1
ISO
mRNA:decreased expression:kidney (rat) DNA:snp:intron:IVS9+122A>G rs6420094 (human)
RGD
PMID:21826734 PMID:20383146
RGD:7242935 , RGD:7243100
NCBI chr13:55,547,435...55,562,508
Ensembl chr13:55,546,000...55,563,405
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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 chr11:78,356,527...78,362,771
Ensembl chr11:78,356,523...78,362,885
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Synpo
synaptopodin
treatment
ISO
human cells in rat model
RGD
PMID:33298161
RGD:155631310
NCBI chr18:60,727,053...60,793,241
Ensembl chr18:60,727,045...60,793,214
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Tbx18
T-box18
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:87,584,853...87,613,313
Ensembl chr 9:87,584,853...87,613,313
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Tert
telomerase reverse transcriptase
treatment
ISO
RGD
PMID:23013219
RGD:11038770
NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962
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Tfcp2l1
transcription factor CP2-like 1
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:33097957
NCBI chr 1:118,555,646...118,612,898
Ensembl chr 1:118,555,675...118,612,898
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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 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
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Ttc21b
tetratricopeptide repeat domain 21B
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 2:66,014,131...66,087,144
Ensembl chr 2:66,014,671...66,086,961
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Umod
uromodulin
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868
NCBI chr 7:119,061,931...119,078,485
Ensembl chr 7:119,061,934...119,078,505
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Vcam1
vascular cell adhesion molecule 1
ISO
protein:increased expression:kidney protein:increased expression:serum:
RGD
PMID:20820841 PMID:21111939
RGD:4145364 , RGD:7241036
NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337
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Wnt9b
wingless-type MMTV integration site family, member 9B
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:34145744
NCBI chr11:103,618,188...103,666,098
Ensembl chr11:103,618,190...103,640,647
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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 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961
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Xdh
xanthine dehydrogenase
treatment
ISO
associated with Hypertension;DNA:SNP: :66292C>G (human)
RGD
PMID:22622455 PMID:18712049
RGD:7247640 , RGD:7247654
NCBI chr17:74,190,890...74,257,191
Ensembl chr17:74,190,890...74,257,191
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Zfp423
zinc finger protein 423
ISO
ClinVar Annotator: match by term: Chronic kidney disease
ClinVar
PMID:25741868 PMID:28492532 PMID:32723786
NCBI chr 8:88,388,438...88,688,665
Ensembl chr 8:88,388,438...88,686,223
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Abca1
ATP-binding cassette, sub-family A member 1
ameliorates
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19878707 PMID:19878707
RGD:2326081
NCBI chr 4:53,030,789...53,159,988
Ensembl chr 4:53,030,787...53,159,895
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Abcb1a
ATP-binding cassette, sub-family B member 1A
ISO
RGD
PMID:17135344
RGD:2301067
NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575
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Abcb1b
ATP-binding cassette, sub-family B member 1B
ISO
RGD
PMID:17135344
RGD:2301067
NCBI chr 5:8,848,147...8,916,314
Ensembl chr 5:8,848,147...8,916,315
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Abcc2
ATP-binding cassette, sub-family member 2
ISO
RGD
PMID:17135344
RGD:2301067
NCBI chr19:43,770,747...43,826,771
Ensembl chr19:43,770,631...43,829,179
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Abcc3
ATP-binding cassette, sub-family C member 3
ISO
protein:decreased expression:intestine
RGD
PMID:17135344
RGD:2301067
NCBI chr11:94,234,121...94,283,843
Ensembl chr11:94,234,121...94,283,823
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Abcg1
ATP binding cassette subfamily G member 1
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:kidney (rat)
CTD RGD
PMID:19878707 PMID:19878707
RGD:2326081
NCBI chr17:31,276,668...31,336,958
Ensembl chr17:31,276,649...31,336,962
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Acat1
acetyl-Coenzyme A acetyltransferase 1
ISO
protein:increased expression:kidney (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19878707 PMID:19878707
RGD:2326081
NCBI chr 9:53,491,822...53,521,650
Ensembl chr 9:53,491,822...53,521,682
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Ace
angiotensin I converting enzyme
treatment susceptibility
ISO
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 chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:serum, urine CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19539174 PMID:24028144
RGD:8695941
NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
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Adipor1
adiponectin receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19539174 PMID:24028144
RGD:8695941
NCBI chr 1:134,343,116...134,361,089
Ensembl chr 1:134,343,116...134,361,089
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Adipor2
adiponectin receptor 2
ISO
RGD
PMID:24028144
RGD:8695941
NCBI chr 6:119,330,111...119,394,489
Ensembl chr 6:119,330,111...119,394,665
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Adrb2
adrenergic receptor, beta 2
ISO
RGD
PMID:9730702
RGD:7175286
NCBI chr18:62,310,784...62,313,052
Ensembl chr18:62,310,887...62,313,030
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Ager
advanced glycosylation end product-specific receptor
ISO
protein:increased expression:serum (human)
RGD
PMID:21822023
RGD:7243867
NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
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Agt
angiotensinogen
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
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Agtr2
angiotensin II receptor, type 2
ISO IMP
associated with Vesico-Ureteral Reflux;DNA:SNP: :-1332A>G (human)
RGD
PMID:20149750 PMID:19212419
RGD:6903283 , RGD:6903843
NCBI chr X:21,350,863...21,355,072
Ensembl chr X:21,350,783...21,355,403
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Alb
albumin
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11938814 PMID:11849406
RGD:11036089
NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
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Alms1
ALMS1, centrosome and basal body associated
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 6:85,564,482...85,698,973
Ensembl chr 6:85,564,513...85,679,735
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Apoa1
apolipoprotein A-I
treatment
ISO IDA
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 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764
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Apoc2
apolipoprotein C2
ISO
associated with Diabetes Mellitus, Insulin-Dependent
RGD
PMID:8139482
RGD:2313968
NCBI chr 7:19,405,504...19,411,866
Ensembl chr 7:19,405,504...19,411,866
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Apoc3
apolipoprotein C-III
ISO
associated with Diabetes Mellitus, Insulin-Dependent protein:increased expression: :
RGD
PMID:8139482 PMID:10822722
RGD:2313968 , RGD:7207212
NCBI chr 9:46,144,348...46,146,934
Ensembl chr 9:46,144,231...46,146,934
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Apoe
apolipoprotein E
IMP ISO
protein:increased expression:serum (human)
RGD
PMID:21705678 PMID:21332332
RGD:6903287 , RGD:6904217
NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
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Arg2
arginase type II
ISO
protein:decreased activity:kidney (rat)
RGD
PMID:16809898
RGD:4110828
NCBI chr12:79,177,562...79,203,075
Ensembl chr12:79,177,551...79,203,075
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Bcl2
B cell leukemia/lymphoma 2
treatment
ISO
RGD
PMID:20424483
RGD:11522730
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
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Bdkrb1
bradykinin receptor, beta 1
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 chr12:105,570,350...105,571,770
Ensembl chr12:105,569,344...105,571,687
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Becn1
beclin 1, autophagy related
ISO
protein:increased expression:kidney
RGD
PMID:24090408
RGD:11561926
NCBI chr11:101,179,084...101,193,112
Ensembl chr11:101,176,778...101,193,112
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Bglap
bone gamma carboxyglutamate protein
ISO
protein:increased expression:serum
RGD
PMID:20845051 PMID:17365904
RGD:7207235 , RGD:7207409
NCBI chr 3:88,290,802...88,291,773
Ensembl chr 3:88,290,808...88,291,771
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Bnip3
BCL2/adenovirus E1B interacting protein 3
ISO
protein:increased expression:kidney
RGD
PMID:24090408
RGD:11561926
NCBI chr 7:138,492,565...138,511,235
Ensembl chr 7:138,492,565...138,511,248
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C6
complement component 6
severity
ISO
RGD
PMID:11912252
RGD:1600675
NCBI chr15:4,756,550...4,833,527
Ensembl chr15:4,756,657...4,844,449
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Casr
calcium-sensing receptor
ISO
protein:decreased expression:epigastric artery (human)
RGD
PMID:17537980
RGD:7205455
NCBI chr16:36,310,947...36,382,605
Ensembl chr16:36,314,058...36,382,503
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Cat
catalase
ISO
protein: decreased expression :kidney CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16518626 PMID:19420110 PMID:20007347
RGD:6892947
NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
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Cbr1
carbonyl reductase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26282591
NCBI chr16:93,404,752...93,407,226
Ensembl chr16:93,402,741...93,407,393
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Ccl2
C-C motif chemokine ligand 2
susceptibility treatment
ISO
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 chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Ccl3
C-C motif chemokine ligand 3
ISO
RGD
PMID:22613545
RGD:7175169
NCBI chr11:83,538,669...83,540,204
Ensembl chr11:83,538,670...83,540,181
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Ccl5
C-C motif chemokine ligand 5
ISO
mRNA:increased expression:kidney cortex (rat)
RGD
PMID:19535570
RGD:4889989
NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
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Ccr1
C-C motif chemokine receptor 1
IMP
associated with Candidiasis, Invasive;
RGD
PMID:22916017
RGD:7241817
NCBI chr 9:123,762,163...123,768,729
Ensembl chr 9:123,762,161...123,768,729
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Ccr5
C-C motif chemokine receptor 5
ISO
mRNA:increased expression:kidney cortex (rat)
RGD
PMID:19535570
RGD:4889989
NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
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Cd2ap
CD2-associated protein
IAGP
MouseDO
NCBI chr17:43,059,857...43,187,593
Ensembl chr17:43,103,842...43,187,556
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Cd40
CD40 antigen
treatment severity
ISO
protein:increased expression:plasma
RGD
PMID:12941150 PMID:20846521
RGD:7248709 , RGD:7248723
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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Cd40lg
CD40 ligand
ISO
protein:increased expression:plasma
RGD
PMID:19019166
RGD:7248427
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
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Cd68
CD68 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19539174
NCBI chr11:69,555,039...69,556,996
Ensembl chr11:69,555,039...69,556,979
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Cfb
complement factor B
severity
IMP ISO
RGD
PMID:17522263 PMID:1837062
RGD:7242704 , RGD:7242753
NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494
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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 chr12:102,521,200...102,531,286
Ensembl chr12:102,521,228...102,531,287
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Col1a1
collagen, type I, alpha 1
ISO
RGD
PMID:25782334
RGD:11041185
NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868
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Col3a1
collagen, type III, alpha 1
ISO
DNA:polymorphism: :p.I1205V (human)
RGD
PMID:19424605
RGD:7257553
NCBI chr 1:45,350,698...45,388,866
Ensembl chr 1:45,350,698...45,388,866
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Col4a3
collagen, type IV, alpha 3
ISO
RGD
PMID:19357112
RGD:7242047
NCBI chr 1:82,564,647...82,699,778
Ensembl chr 1:82,564,642...82,699,780
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Col4a4
collagen, type IV, alpha 4
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 1:82,426,140...82,564,570
Ensembl chr 1:82,426,144...82,564,570
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Cpt1a
carnitine palmitoyltransferase 1a, liver
ISO
CTD Direct Evidence: marker/mechanism protein:decreased expression:kidney (rat)
CTD RGD
PMID:19878707 PMID:19878707
RGD:2326081
NCBI chr19:3,372,328...3,435,735
Ensembl chr19:3,372,334...3,435,733
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Crp
C-reactive protein, pentraxin-related
disease_progression
ISO
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19539174 PMID:22865783
RGD:6906886
NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
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Csf1
colony stimulating factor 1 (macrophage)
ISO
protein:increased expression:plasma
RGD
PMID:11340249
RGD:7257586
NCBI chr 3:107,648,364...107,668,048
Ensembl chr 3:107,648,364...107,667,785
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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 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991
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Cxcr1
C-X-C motif chemokine receptor 1
ISO
RGD
PMID:20649681
RGD:7207863
NCBI chr 1:74,228,862...74,233,867
Ensembl chr 1:74,230,944...74,233,790
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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 1:74,193,153...74,200,405
Ensembl chr 1:74,193,150...74,200,405
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Cyba
cytochrome b-245, alpha polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19420110 PMID:19420110
RGD:2306994
NCBI chr 8:123,151,510...123,159,679
Ensembl chr 8:123,151,515...123,159,669
G
Cybb
cytochrome b-245, beta polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19420110 PMID:15550752
RGD:1599682
NCBI chr X:9,301,493...9,354,005
Ensembl chr X:9,301,491...9,354,010
G
Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
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 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107
G
Cyp2b10
cytochrome P450, family 2, subfamily b, polypeptide 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15248218
NCBI chr 7:25,597,083...25,626,049
Ensembl chr 7:25,597,045...25,626,049
G
Cyp2c29
cytochrome P450, family 2, subfamily c, polypeptide 29
ISO
DNA:polymorphisms: :
RGD
PMID:18769365
RGD:7243146
NCBI chr19:39,275,541...39,319,157
Ensembl chr19:39,257,849...39,319,157
G
Cyp2c38
cytochrome P450, family 2, subfamily c, polypeptide 38
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15248218
NCBI chr19:39,379,109...39,451,519
Ensembl chr19:39,378,000...39,451,519
G
Cyp2c52-ps
cytochrome P450, family 2, subfamily c, polypeptide 52, pseudogene
ISO
RGD
PMID:8531418 PMID:11158222
RGD:6903939 RGD:6903940
NCBI chr19:38,965,106...38,992,071
Ensembl chr19:38,965,091...38,991,733
G
Cyp2c55
cytochrome P450, family 2, subfamily c, polypeptide 55
ISO
RGD
PMID:11158222 PMID:8531418
RGD:6903939 , RGD:6903940
NCBI chr19:38,995,384...39,031,134
Ensembl chr19:38,995,463...39,031,137
G
Cyp2c66
cytochrome P450, family 2, subfamily c, polypeptide 66
ISO
DNA:polymorphisms: :
RGD
PMID:18769365
RGD:7243146
NCBI chr19:39,102,342...39,175,200
Ensembl chr19:39,102,342...39,175,516
G
Cyp3a11
cytochrome P450, family 3, subfamily a, polypeptide 11
ISO
mRNA, protein:decreased expression:intestine
RGD
PMID:12039987
RGD:7296923
NCBI chr 5:145,791,417...145,816,664
Ensembl chr 5:145,791,236...145,816,774
G
Ddc
dopa decarboxylase
ISO
protein:altered activity:renal cortex (rat)
RGD
PMID:19167406
RGD:5128880
NCBI chr11:11,764,101...11,848,144
Ensembl chr11:11,764,101...11,848,144
G
Drd1
dopamine receptor D1
treatment
ISO
RGD
PMID:18402547
RGD:7248448
NCBI chr13:54,205,202...54,209,677
Ensembl chr13:54,205,202...54,209,724
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 9:49,251,703...49,319,468
Ensembl chr 9:49,251,927...49,319,477
G
Edn1
endothelin 1
ISO
mRNA:increased expression:kidney (rat)
RGD
PMID:8441230
RGD:4144849
NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466
G
Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
Associated with Type 2 diabetes
RGD
PMID:18184924
RGD:6906927
NCBI chr10:24,513,812...24,588,057
Ensembl chr10:24,513,812...24,588,057
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Ephx2
epoxide hydrolase 2, cytoplasmic
disease_progression
IMP
RGD
PMID:20694143
RGD:5688726
NCBI chr14:66,321,821...66,361,971
Ensembl chr14:66,321,823...66,361,949
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Epo
erythropoietin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16707910
NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504
G
Epor
erythropoietin receptor
ISO
protein:decreased expression:heart
RGD
PMID:27468524
RGD:11532749
NCBI chr 9:21,870,193...21,874,915
Ensembl chr 9:21,870,193...21,874,802
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F2
coagulation factor II
treatment
ISO
RGD
PMID:22473220
RGD:7387323
NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759
G
F5
coagulation factor V
ISO
DNA:mutation: :1691G>A(human)
RGD
PMID:19520684
RGD:6893522
NCBI chr 1:163,979,396...164,048,539
Ensembl chr 1:163,979,407...164,047,846
G
Fabp1
fatty acid binding protein 1, liver
ameliorates
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19878707 PMID:19878707
RGD:2326081
NCBI chr 6:71,176,863...71,182,018
Ensembl chr 6:71,176,811...71,182,007
G
Fabp2
fatty acid binding protein 2, intestinal
ISO
DNA:polymorphism:CDS:amino acid A54T, associated with Diabetes Mellitus, Type 2 (MeSH:D003924)
RGD
PMID:16249461
RGD:1578457
NCBI chr 3:122,688,721...122,693,155
Ensembl chr 3:122,688,721...122,693,155
G
Fasn
fatty acid synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19878707
NCBI chr11:120,696,784...120,715,992
Ensembl chr11:120,696,672...120,715,373
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Fcgr2b
Fc receptor, IgG, low affinity IIb
ISO
RGD
PMID:15266033
RGD:7240530
NCBI chr 1:170,786,186...170,804,141
Ensembl chr 1:170,786,186...170,804,116
G
Fgb
fibrinogen beta chain
treatment
ISO
associated with hypertension;DNA:polymorphism: :-455G>A (human)
RGD
PMID:19352213
RGD:7175505
NCBI chr 3:82,949,553...82,957,170
Ensembl chr 3:82,947,448...82,957,170
G
Fn1
fibronectin 1
ISO
protein:decreased expression:plasma
RGD
PMID:6665521
RGD:7205701
NCBI chr 1:71,624,632...71,692,439
Ensembl chr 1:71,624,679...71,692,359
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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 chr 2:9,861,889...9,894,845
Ensembl chr 2:9,861,889...9,894,845
G
Gckr
glucokinase regulatory protein
ISO
DNA: snp: rs1260326
RGD
PMID:21980298
RGD:7242279
NCBI chr 5:31,454,594...31,484,646
Ensembl chr 5:31,454,787...31,484,658
G
Ghrl
ghrelin
ISO
RGD
PMID:18809976
RGD:7242553
NCBI chr 6:113,693,080...113,696,872
Ensembl chr 6:113,693,080...113,696,841
G
Glo1
glyoxalase 1
severity
ISO
DNA:SNP: :419C>A (human)
RGD
PMID:20185929
RGD:7242570
NCBI chr17:30,811,835...30,831,633
Ensembl chr17:30,803,910...30,845,845
G
Gsr
glutathione reductase
ISO
protein:increased activity:blood: protein:increased activity:lymphocyte:
RGD
PMID:20181004 PMID:6463365
RGD:7257547 , RGD:7257560
NCBI chr 8:34,143,266...34,188,190
Ensembl chr 8:34,142,551...34,188,191
G
Gstm1
glutathione S-transferase, mu 1
ISO
RGD
PMID:24339523
RGD:14700960
NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
G
Gstt1
glutathione S-transferase, theta 1
susceptibility
ISO
associated with Diabetes Mellitus;DNA:deletion
RGD
PMID:15492856
RGD:2306631
NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
G
Gtpbp4
GTP binding protein 4
ISO
RGD
PMID:11316846
RGD:632611
NCBI chr13:9,016,039...9,046,080
Ensembl chr13:9,016,367...9,046,119
G
Guca2b
guanylate cyclase activator 2b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15780094
NCBI chr 4:119,513,798...119,516,142
Ensembl chr 4:119,513,804...119,516,151
G
Hamp
hepcidin antimicrobial peptide
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 7:30,641,793...30,643,454
Ensembl chr 7:30,641,793...30,643,457
G
Hbegf
heparin-binding EGF-like growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21937979
NCBI chr18:36,637,980...36,648,858
Ensembl chr18:36,637,980...36,648,858
G
Hmgcr
3-hydroxy-3-methylglutaryl-Coenzyme A reductase
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 chr13:96,785,470...96,807,444
Ensembl chr13:96,785,475...96,807,444
G
Hmox1
heme oxygenase 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:22622455
NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
G
Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:kidney (rat)
RGD
PMID:20820841
RGD:4145364
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
G
Igf1
insulin-like growth factor 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:10198369
NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904
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 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
G
Il1b
interleukin 1 beta
no_association
ISO
DNA:SNP protein:increased expression:plasma (rat)
RGD
PMID:20551628 PMID:20199183 PMID:22031851
RGD:6907070 , RGD:7175346 , RGD:7175302
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Il20
interleukin 20
ISO
protein:increased expression:multiple organs
RGD
PMID:18639518
RGD:5147394
NCBI chr 1:130,834,722...130,839,033
Ensembl chr 1:130,834,722...130,839,188
G
Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19539174
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
G
Insig2
insulin induced gene 2
ISO
protein:decreased expression:kidney (rat)
RGD
PMID:19878707
RGD:2326081
NCBI chr 1:121,232,082...121,260,391
Ensembl chr 1:121,232,082...121,260,318
G
Irs1
insulin receptor substrate 1
ISO
protein:decreased tyrosine phosphorylation:aorta
RGD
PMID:22942179
RGD:7207055
NCBI chr 1:82,210,826...82,269,160
Ensembl chr 1:82,210,822...82,269,137
G
Itga8
integrin alpha 8
ISO
associated with Polycystic Kidney, Autosomal Dominant;DNA:polymorphism: :-414T>C(human)
RGD
PMID:18277079
RGD:7257723
NCBI chr 2:12,111,443...12,306,755
Ensembl chr 2:12,111,443...12,306,733
G
Itgb3
integrin beta 3
ISO
associated with Hypertension;DNA:polymorphism
RGD
PMID:19368146
RGD:6907396
NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302
G
Keap1
kelch-like ECH-associated protein 1
ISO
protein:increased expression:renal cortex, cytosol (rat)
RGD
PMID:20007347
RGD:6892947
NCBI chr 9:21,141,026...21,150,628
Ensembl chr 9:21,141,026...21,150,657
G
Kl
klotho
ISO
mRNA,protein:decreased expression:kidney: mRNA:decreased expression:kidney:
RGD
PMID:11162628 PMID:9731228
RGD:10403042 , RGD:10403067
NCBI chr 5:150,876,072...150,917,282
Ensembl chr 5:150,876,072...150,917,282
G
Klk1
kallikrein 1
ISO
RGD
PMID:11849458
RGD:1581753
NCBI chr 7:43,874,784...43,879,046
Ensembl chr 7:43,874,784...43,879,042
G
Lcat
lecithin cholesterol acyltransferase
ISO
RGD
PMID:15280162
RGD:1581769
NCBI chr 8:106,666,183...106,670,034
Ensembl chr 8:106,666,183...106,670,014
G
Lcn2
lipocalin 2
onset
ISO
protein:increased expression:urine:
RGD
PMID:22542304
RGD:7245503
NCBI chr 2:32,274,649...32,277,751
Ensembl chr 2:32,274,645...32,278,264
G
Lep
leptin
ISO
protein:increased expression:serum (human)
RGD
PMID:9294834
RGD:10053636
NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876
G
Lipc
lipase, hepatic
ISO
protein, mRNA:decreased expression:hepatocytes, liver (rat)
RGD
PMID:8636395
RGD:2308788
NCBI chr 9:70,705,410...70,859,503
Ensembl chr 9:70,705,410...70,859,508
G
Lpin1
lipin 1
ISO
mRNA:increased expression:skeletal muscle
RGD
PMID:14718385
RGD:1641826
NCBI chr12:16,585,670...16,697,020
Ensembl chr12:16,585,670...16,696,967
G
Lpl
lipoprotein lipase
ISO
RGD
PMID:22009636
RGD:6909179
NCBI chr 8:69,333,207...69,359,584
Ensembl chr 8:69,333,143...69,360,100
G
Lrp2
low density lipoprotein receptor-related protein 2
ISO
mRNA:decreased expression:kidney
RGD
PMID:15266031
RGD:1641836
NCBI chr 2:69,254,679...69,416,373
Ensembl chr 2:69,254,684...69,416,409
G
Mbl2
mannose-binding lectin (protein C) 2
ISO
associated with Lupus Erythematosus, Systemic;DNA:polymorphisms
RGD
PMID:16801331
RGD:6903261
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
G
Mlxipl
MLX interacting protein-like
ameliorates
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19878707 PMID:19878707
RGD:2326081
NCBI chr 5:135,118,744...135,168,622
Ensembl chr 5:135,118,744...135,167,236
G
Mmp10
matrix metallopeptidase 10
ISO
associated with Hypertension; protein:increased expression:plasma (human)
RGD
PMID:19886850
RGD:7207051
NCBI chr 9:7,502,343...7,510,243
Ensembl chr 9:7,502,353...7,510,241
G
Mmp1a
matrix metallopeptidase 1a (interstitial collagenase)
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 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857
G
Mmp1b
matrix metallopeptidase 1b (interstitial collagenase)
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 chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047
G
Mmp2
matrix metallopeptidase 2
ISO
associated with Hypertension; protein:increased expression:plasma (human)
RGD
PMID:19886850
RGD:7207051
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
G
Mmp3
matrix metallopeptidase 3
severity
ISO
DNA:insertion, haplotype:promoter:g.-1613insA (human)
RGD
PMID:19221176
RGD:7207064
NCBI chr 9:7,445,845...7,455,975
Ensembl chr 9:7,445,822...7,455,975
G
Mpo
myeloperoxidase
disease_progression
ISO
RGD
PMID:20638167
RGD:6909184
NCBI chr11:87,684,610...87,695,238
Ensembl chr11:87,684,407...87,695,239
G
Msc
musculin
susceptibility
ISO
associated with type 1 diabetes mellitus;DNA:SNP:5'UTR:rs9298190(human)
RGD
PMID:19929986
RGD:596936222
NCBI chr 1:14,823,570...14,826,216
Ensembl chr 1:14,823,570...14,826,216
G
Msr1
macrophage scavenger receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19878707
NCBI chr 8:39,996,284...40,095,790
Ensembl chr 8:40,034,726...40,095,714
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 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
G
Mtor
mechanistic target of rapamycin kinase
treatment
ISO
RGD
PMID:22427849
RGD:10040968
NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140
G
Myh9
myosin, heavy polypeptide 9, non-muscle
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 chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375
G
Nat2
N-acetyltransferase 2 (arylamine N-acetyltransferase)
ISO
mRNA,protein:decreased expression:liver:
RGD
PMID:20007296
RGD:11533637
NCBI chr 8:67,947,527...67,955,296
Ensembl chr 8:67,947,510...67,955,236
G
Ncf1
neutrophil cytosolic factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19420110
NCBI chr 5:134,248,907...134,258,479
Ensembl chr 5:134,248,907...134,258,479
G
Nfkb1
nuclear factor of kappa light polypeptide gene enhancer in B cells 1, p105
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19420110
NCBI chr 3:135,290,416...135,397,422
Ensembl chr 3:135,290,416...135,397,308
G
Ngf
nerve growth factor
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24244623 PMID:19169037
RGD:7242783
NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329
G
Nos1
nitric oxide synthase 1, neuronal
treatment
ISO
protein:decreased expression:kidney cortex
RGD
PMID:17200156 PMID:23185775
RGD:1642147 , RGD:7257669
NCBI chr 5:118,004,904...118,096,905
Ensembl chr 5:117,919,097...118,096,905
G
Nos3
nitric oxide synthase 3, endothelial cell
susceptibility
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 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
G
Nox4
NADPH oxidase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19420110
NCBI chr 7:86,893,638...87,047,918
Ensembl chr 7:86,895,304...87,047,918
G
Nphs1
nephrosis 1, nephrin
disease_progression
ISO
mRNA;increased expression:urine (rat)
RGD
PMID:19389856
RGD:38599006
NCBI chr 7:30,157,259...30,188,048
Ensembl chr 7:30,157,740...30,186,648
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Nppb
natriuretic peptide type B
ISO
protein:increased expression:plasma:
RGD
PMID:7606877
RGD:7246912
NCBI chr 4:148,070,264...148,071,662
Ensembl chr 4:148,070,245...148,071,662
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Nppc
natriuretic peptide type C
ISO
protein:increased expression:plasma protein:increased expression:plasma (human)
RGD
PMID:8117275 PMID:8743538
RGD:1642297 , RGD:1580770
NCBI chr 1:86,594,015...86,598,295
Ensembl chr 1:86,594,013...86,598,293
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
ISO
RGD
PMID:18591458
RGD:7174716
NCBI chr18:39,543,598...39,652,485
Ensembl chr18:39,543,598...39,652,474
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Olr1
oxidized low density lipoprotein (lectin-like) receptor 1
ISO
mRNA, protein:increased expression:kidney (rat)
RGD
PMID:12661921
RGD:1580992
NCBI chr 6:129,456,113...129,484,312
Ensembl chr 6:129,462,207...129,484,128
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Pax2
paired box 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16631587
NCBI chr19:44,735,040...44,826,708
Ensembl chr19:44,735,057...44,826,310
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Pgf
placental growth factor
ISO
RGD
PMID:16543713
RGD:1642390
NCBI chr12:85,213,413...85,224,087
Ensembl chr12:85,213,409...85,224,564
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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 chr17:24,767,657...24,815,457
Ensembl chr17:24,768,808...24,815,482
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Pla2g7
phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
ISO
plasma:increased expression:plasma
RGD
PMID:16421163
RGD:7248787
NCBI chr17:43,879,009...43,923,093
Ensembl chr17:43,878,989...43,923,092
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Plau
plasminogen activator, urokinase
treatment severity
ISO
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 chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453
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Plaur
plasminogen activator, urokinase receptor
ISO
RGD
PMID:19926968
RGD:6483806
NCBI chr 7:24,161,857...24,175,393
Ensembl chr 7:24,161,909...24,175,393
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Postn
periostin, osteoblast specific factor
ISO
mRNA,protein:increased expression,increased secretion:kidney,urine:
RGD
PMID:22167593
RGD:10040972
NCBI chr 3:54,266,688...54,298,462
Ensembl chr 3:54,268,530...54,298,458
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Ppara
peroxisome proliferator activated receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19878707
NCBI chr15:85,619,112...85,691,052
Ensembl chr15:85,619,184...85,687,020
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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 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
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Ptger4
prostaglandin E receptor 4 (subtype EP4)
treatment
ISO
RGD
PMID:16871242
RGD:10003092
NCBI chr15:5,262,880...5,273,668
Ensembl chr15:5,236,142...5,273,668
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Ptgs1
prostaglandin-endoperoxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19420110
NCBI chr 2:36,106,758...36,142,287
Ensembl chr 2:36,120,438...36,142,284
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19420110
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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Pth
parathyroid hormone
severity
ISO
protein:increased expression:serum (rat) protein:increased expression:serum (human)
RGD
PMID:23548814 PMID:23243213
RGD:7242564 , RGD:7242692
NCBI chr 7:112,984,783...112,987,879
Ensembl chr 7:112,984,787...112,987,777
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Rela
v-rel reticuloendotheliosis viral oncogene homolog A (avian)
ISO
protein:increased expression:kidney CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19420110 PMID:18077597
RGD:2298859
NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158
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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 chr 8:3,705,770...3,709,818
Ensembl chr 8:3,705,770...3,710,110
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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 chr19:33,115,140...33,369,695
Ensembl chr19:33,115,147...33,369,665
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Scaf1
SR-related CTD-associated factor 1
ISO
protein:increased expression:kidney (rat)
RGD
PMID:19878707
RGD:2326081
NCBI chr 7:44,652,372...44,665,537
Ensembl chr 7:44,652,372...44,665,787
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Scap
SREBF chaperone
multiple interactions
ISO
RGD
PMID:19878707
RGD:2326081
NCBI chr 9:110,162,356...110,214,017
Ensembl chr 9:110,162,356...110,214,018
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Scarb1
scavenger receptor class B, member 1
ameliorates
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19878707 PMID:19878707
RGD:2326081
NCBI chr 5:125,354,151...125,418,082
Ensembl chr 5:125,354,151...125,418,158
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Sell
selectin, lymphocyte
no_association
ISO
RGD
PMID:22119815
RGD:7175303
NCBI chr 1:163,889,556...163,908,354
Ensembl chr 1:163,889,551...163,911,750
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Serpine1
serine (or cysteine) peptidase inhibitor, clade E, member 1
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19420110 PMID:26903149
RGD:11073683
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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Slc22a2
solute carrier family 22 (organic cation transporter), member 2
ISO
protein:decreased expression:kidney, plasma membrane
RGD
PMID:23280877 PMID:12110012
RGD:7243177 , RGD:7243883
NCBI chr17:12,803,076...12,847,376
Ensembl chr17:12,803,019...12,847,375
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Slc34a1
solute carrier family 34 (sodium phosphate), member 1
ISO
mRNA:decreased expression:renal cortex (rat)
RGD
PMID:15452708
RGD:7242930
NCBI chr13:55,547,435...55,562,508
Ensembl chr13:55,546,000...55,563,405
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Slc9a5
solute carrier family 9 (sodium/hydrogen exchanger), member 5
resistance
ISO
DNA:polymorphism
RGD
PMID:10642288
RGD:1643221
NCBI chr 8:106,074,782...106,095,979
Ensembl chr 8:106,075,475...106,096,513
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Soat2
sterol O-acyltransferase 2
ISO
RGD
PMID:12217884
RGD:625687
NCBI chr15:102,058,853...102,071,871
Ensembl chr15:102,058,961...102,071,904
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Srebf1
sterol regulatory element binding transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19878707
NCBI chr11:60,089,910...60,113,407
Ensembl chr11:60,089,915...60,113,407
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Srebf2
sterol regulatory element binding factor 2
ISO
mRNA, protein:increased expression:liver CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19878707 PMID:16814791
RGD:2308825
NCBI chr15:82,031,455...82,089,580
Ensembl chr15:82,031,382...82,089,580
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Tbx21
T-box 21
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26970513
NCBI chr11:96,988,833...97,006,157
Ensembl chr11:96,988,897...97,006,157
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Tgfb1
transforming growth factor, beta 1
ISO
mRNA, protein:increased expression:kidney CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19420110 PMID:10919844
RGD:7394838
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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Thbd
thrombomodulin
IDA ISO
protein:increased expression:plasma
RGD
PMID:22129968 PMID:21873362
RGD:5684979 , RGD:5684981
NCBI chr 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108
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Tlr2
toll-like receptor 2
ISO
RGD
PMID:20729266
RGD:7240546
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tlr4
toll-like receptor 4
ISO
RGD
PMID:20729266
RGD:7240546
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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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 chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tnfrsf11b
tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)
severity
ISO
RGD
PMID:21479768
RGD:7205485
NCBI chr15:54,114,014...54,141,700
Ensembl chr15:54,114,015...54,141,880
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Tnfrsf1a
tumor necrosis factor receptor superfamily, member 1a
ISO
associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma
RGD
PMID:22266663
RGD:7245510
NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
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Tnfrsf1b
tumor necrosis factor receptor superfamily, member 1b
ISO
associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma
RGD
PMID:22266663
RGD:7245510
NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440
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Ucp2
uncoupling protein 2 (mitochondrial, proton carrier)
susceptibility
ISO
DNA:polymorphism: :-866G>A (human) DNA:deletion
RGD
PMID:19406964 PMID:18242170
RGD:7175298 , RGD:7175299
NCBI chr 7:100,142,565...100,148,832
Ensembl chr 7:100,142,544...100,151,227
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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 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642
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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 chr14:25,458,299...25,667,167
Ensembl chr14:25,459,609...25,667,167
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LOC107983946
Wt1 promoter region
ISO
ClinVar Annotator: match by term: Frasier syndrome
ClinVar
PMID:8621495 PMID:12640141 PMID:16987884 PMID:18559874 PMID:18591546 PMID:19171881 PMID:19221039 PMID:19494353 PMID:19536888 PMID:20368469 PMID:20413658 PMID:20435628 PMID:23349334 PMID:25110071 PMID:25741868 PMID:25932436 PMID:26467025 PMID:26725263 PMID:28492532 PMID:28811308 PMID:31970404 PMID:36110220 More...
NCBI chr 2:104,956,361...104,957,127
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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: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:10505699 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: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:23349334 PMID:23497137 PMID:23515051 PMID:23715653 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:27719739 PMID:28204945 PMID:28492532 PMID:28780565 PMID:28811308 PMID:29474669 PMID:29668062 PMID:29869118 PMID:30406062 PMID:30655312 PMID:30963316 PMID:31970404 PMID:32352694 PMID:32493750 PMID:32581362 PMID:32604935 PMID:32891756 PMID:33742552 PMID:34386660 PMID:34490048 PMID:34622098 PMID:35211794 PMID:35904974 PMID:36110220 PMID:36245711 PMID:36349777 PMID:36964972 PMID:36980135 More...
NCBI chr 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961
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