RGD DISEASE ONTOLOGY - ANNOTATIONS |
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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.
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Abcb1a |
ATP binding cassette subfamily B member 1A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24502637 |
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NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Abcc3 |
ATP binding cassette subfamily C member 3 |
severity |
IEP |
mRNA:increased expression:kidney |
RGD |
PMID:17855625 |
RGD:2301062 |
NCBI chr10:79,296,681...79,342,749
Ensembl chr10:79,296,693...79,342,595
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Ace |
angiotensin I converting enzyme |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8642790 |
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NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Ackr3 |
atypical chemokine receptor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22880115 |
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NCBI chr 9:90,799,682...90,811,246
Ensembl chr 9:90,799,686...90,811,237
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Acta2 |
actin alpha 2, smooth muscle |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19913069 PMID:31697999 |
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NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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Adra1b |
adrenoceptor alpha 1B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18257748 |
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NCBI chr10:28,255,025...28,373,418
Ensembl chr10:28,255,025...28,312,919
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Adrb2 |
adrenoceptor beta 2 |
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IMP |
Associated with Escherichia coli infection; |
RGD |
PMID:20349426 |
RGD:7175274 |
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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Ager |
advanced glycosylation end product-specific receptor |
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ISO |
associated with Obesity |
RGD |
PMID:21412218 |
RGD:7243938 |
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Agt |
angiotensinogen |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12414515 PMID:15213268 PMID:17989111 PMID:21896938 PMID:31098697 |
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NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Agtr1a |
angiotensin II receptor, type 1a |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9596920 PMID:15213268 |
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NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Alad |
aminolevulinate dehydratase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23792432 PMID:24631795 |
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NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
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Alb |
albumin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:350256 PMID:2386429 PMID:7297036 PMID:16316336 PMID:17303580 PMID:20438795 PMID:21338618 PMID:24863737 More...
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NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Alox5ap |
arachidonate 5-lipoxygenase activating protein |
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ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:g.8733T>C (rs3803278) (human) |
RGD |
PMID:19288030 |
RGD:2313888 |
NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986
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Anxa1 |
annexin A1 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:20484890 |
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NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
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Aqp9 |
aquaporin 9 |
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ISO |
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OMIM |
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NCBI chr 8:71,797,231...71,837,485
Ensembl chr 8:71,797,234...71,837,395
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Arid1b |
AT-rich interaction domain 1B |
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ISO |
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RGD |
PMID:14633620 |
RGD:1302474 |
NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
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Axl |
Axl receptor tyrosine kinase |
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ISO |
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RGD |
PMID:15619028 |
RGD:1579938 |
NCBI chr 1:81,265,656...81,296,278
Ensembl chr 1:81,265,088...81,296,265
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B2m |
beta-2 microglobulin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2202081 PMID:17303580 PMID:24863737 |
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NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Bmp7 |
bone morphogenetic protein 7 |
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IEP |
protein:decreased expression:kidney |
RGD |
PMID:16549155 |
RGD:2289038 |
NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788
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Calb1 |
calbindin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21258088 PMID:21865292 |
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NCBI chr 5:29,375,624...29,402,532
Ensembl chr 5:29,375,642...29,402,431
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Casp1 |
caspase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22647887 |
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NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
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Casp3 |
caspase 3 |
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IEP |
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RGD |
PMID:29257007 |
RGD:13782293 |
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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Casp8 |
caspase 8 |
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IEP |
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RGD |
PMID:29257007 |
RGD:13782293 |
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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Casp9 |
caspase 9 |
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IEP |
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RGD |
PMID:29257007 |
RGD:13782293 |
NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
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Ccl2 |
C-C motif chemokine ligand 2 |
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IMP |
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RGD |
PMID:15882261 |
RGD:2307176 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl5 |
C-C motif chemokine ligand 5 |
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IMP |
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RGD |
PMID:15882261 |
RGD:2307176 |
NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
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Cd40lg |
CD40 ligand |
treatment |
ISO |
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RGD |
PMID:12969144 |
RGD:7248601 |
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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Cd46 |
CD46 molecule |
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ISO |
protein:increased expression:kidney |
RGD |
PMID:17594162 |
RGD:6483464 |
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
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Cd59 |
CD59 molecule |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:31618666 |
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NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847
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Cdh1 |
cadherin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31697999 |
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NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16968891 |
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NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Clu |
clusterin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21258088 PMID:21593213 PMID:24863737 |
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NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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Cnnm2 |
cyclin and CBS domain divalent metal cation transport mediator 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23027747 |
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NCBI chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286
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Col4a1 |
collagen type IV alpha 1 chain |
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ISS |
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MouseDO |
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NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
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Col4a4 |
collagen type IV alpha 4 chain |
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ISO |
Nephropathy |
OMIA |
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NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
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Csf3 |
colony stimulating factor 3 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:19429242 |
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NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Cst3 |
cystatin C |
onset |
ISO |
associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22525860 PMID:24863737 PMID:19291539 |
RGD:2314320 |
NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
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Ctf1 |
cardiotrophin 1 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:23335628 |
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NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335
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Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
susceptibility |
ISO |
associated with Purpura, Schoenlein-Henoch;DNA:polymorphism:exon:49A>G(human) |
RGD |
PMID:22700162 |
RGD:11344910 |
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Ctsd |
cathepsin D |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15213268 |
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NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488
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Cybb |
cytochrome b-245 beta chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20116427 |
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NCBI chr X:13,360,583...13,392,517
Ensembl chr X:13,359,430...13,392,586
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Cygb |
cytoglobin |
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IEP |
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RGD |
PMID:14647402 |
RGD:9685173 |
NCBI chr10:101,877,675...101,887,442
Ensembl chr10:101,877,676...101,887,442
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Cyp2c79 |
cytochrome P450, family 2, subfamily c, polypeptide 79 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18769365 |
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Cyp3a9 |
cytochrome P450, family 3, subfamily a, polypeptide 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18408564 PMID:20526235 |
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NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
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Edn1 |
endothelin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8604712 PMID:10399635 PMID:15106802 |
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NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Egf |
epidermal growth factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21865292 |
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NCBI chr 2:218,219,408...218,302,370
Ensembl chr 2:218,219,415...218,302,064
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Epo |
erythropoietin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:20606417 |
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NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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F7 |
coagulation factor VII |
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ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) |
RGD |
PMID:15608477 |
RGD:2312390 |
NCBI chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
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Fabp4 |
fatty acid binding protein 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30215792 |
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NCBI chr 2:91,580,858...91,585,578
Ensembl chr 2:91,580,885...91,585,578
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Fga |
fibrinogen alpha chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8097946 PMID:8639778 |
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NCBI chr 2:168,365,364...168,381,533
Ensembl chr 2:168,374,120...168,381,528
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Fgf2 |
fibroblast growth factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8995747 |
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NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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G6pd |
glucose-6-phosphate dehydrogenase |
treatment |
IEP |
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RGD |
PMID:22549094 |
RGD:10449175 |
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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Gas6 |
growth arrest specific 6 |
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ISO |
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RGD |
PMID:15619028 |
RGD:1579938 |
NCBI chr16:76,045,430...76,075,904
Ensembl chr16:76,045,426...76,075,904
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Gatm |
glycine amidinotransferase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22061828 |
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NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129
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Glis2 |
GLIS family zinc finger 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17618285 |
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NCBI chr10:10,951,157...10,978,524
Ensembl chr10:10,951,371...10,971,578
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Gstp1 |
glutathione S-transferase pi 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12868187 |
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NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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Havcr1 |
hepatitis A virus cellular receptor 1 |
disease_progression |
ISO |
associated with Antineutrophil Cytoplasmic Antibody-associated Vasculitis; CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19349640 PMID:20181666 PMID:20438795 PMID:21888673 PMID:23019274 PMID:24863737 PMID:24880025 PMID:23547217 More...
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RGD:7244373 |
NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
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Hnf1a |
HNF1 homeobox A |
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IEP |
associated with Hypertension |
RGD |
PMID:18443232 |
RGD:2301829 |
NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
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Hnf1b |
HNF1 homeobox B |
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ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:deletion:cds:multiple (human) DNA:mutation, deletions::multiple |
RGD |
PMID:17971380 PMID:16971658 |
RGD:2312749, RGD:10402549 |
NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888
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Hoxa11 |
homeobox A11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7596412 |
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NCBI chr 4:81,342,527...81,346,189
Ensembl chr 4:81,342,528...81,346,232
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Hoxd11 |
homeobox D11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7596412 |
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NCBI chr 3:59,584,840...59,587,257
Ensembl chr 3:59,585,039...59,586,783
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Ift122 |
intraflagellar transport 122 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20493458 |
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NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
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Igf1 |
insulin-like growth factor 1 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:8825380 |
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NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Il1rn |
interleukin 1 receptor antagonist |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9370186 |
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NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il33 |
interleukin 33 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21949094 |
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NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Ins2 |
insulin 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29211853 |
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NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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Kl |
Klotho |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23665422 |
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NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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Lcn2 |
lipocalin 2 |
disease_progression |
ISO |
associated with Antineutrophil Cytoplasmic Antibody-associated Vasculitis; CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19349640 PMID:20181666 PMID:20438795 PMID:27026710 PMID:23547217 |
RGD:7244373 |
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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Ldlr |
low density lipoprotein receptor |
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ISO |
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RGD |
PMID:21795641 |
RGD:7241070 |
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
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Lepr |
leptin receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20567778 PMID:33345901 |
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NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Lipc |
lipase C, hepatic type |
susceptibility resistance |
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:transition:promoter:-514C>T (human) associated with Diabetes Mellitus, Insulin-Dependent; DNA:transition:promoter:-514C>T (human) |
RGD |
PMID:15983323 PMID:16928730 |
RGD:2308828, RGD:2308823 |
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
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Lrp2 |
LDL receptor related protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17632512 |
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NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
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Mapk1 |
mitogen activated protein kinase 1 |
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ISO |
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RGD |
PMID:15213271 |
RGD:7243971 |
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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Mif |
macrophage migration inhibitory factor |
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IEP |
associated with Hypercholesterolemia;mRNA:increased expression:glomerulus |
RGD |
PMID:9158105 |
RGD:1641957 |
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
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Mir192 |
microRNA 192 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24880025 |
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NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055
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Mir21 |
microRNA 21 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23469132 |
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NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Mir29a |
microRNA 29a |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:30642005 |
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NCBI chr 4:59,650,608...59,650,695
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Mir30d |
microRNA 30d |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31697999 |
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NCBI chr 7:100,136,391...100,136,472
Ensembl chr 7:100,136,391...100,136,472
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G |
Mir30e |
microRNA 30e |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31697999 |
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NCBI chr 5:134,352,232...134,352,323
Ensembl chr 5:134,352,232...134,352,323
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G |
Mki67 |
marker of proliferation Ki-67 |
|
IEP |
|
RGD |
PMID:22017545 |
RGD:6483553 |
NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
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G |
Mmp9 |
matrix metallopeptidase 9 |
|
IEP |
protein:decreased expression:kidney |
RGD |
PMID:17392157 |
RGD:1642041 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Mpo |
myeloperoxidase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19913069 |
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NCBI chr10:72,594,458...72,608,862
Ensembl chr10:72,594,661...72,604,819
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G |
Mt4 |
metallothionein 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19921116 |
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NCBI chr19:10,863,813...10,865,909
Ensembl chr19:10,863,813...10,865,909
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G |
Mthfr |
methylenetetrahydrofolate reductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18551038 |
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NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Mxi1 |
MAX interactor 1, dimerization protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23316056 |
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NCBI chr 1:252,323,915...252,383,682
Ensembl chr 1:252,323,303...252,383,681
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G |
Nek8 |
NIMA-related kinase 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18199800 |
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NCBI chr10:63,060,868...63,073,546
Ensembl chr10:63,061,253...63,072,416
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G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:20605904 |
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NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
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G |
Nos2 |
nitric oxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18441258 |
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NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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G |
Npr1 |
natriuretic peptide receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20881240 |
|
NCBI chr 2:175,934,181...175,950,118
Ensembl chr 2:175,934,181...175,949,505
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G |
Nqo1 |
NAD(P)H quinone dehydrogenase 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:21613233 |
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NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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G |
Nr4a1 |
nuclear receptor subfamily 4, group A, member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24722447 |
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NCBI chr 7:132,368,399...132,389,300
Ensembl chr 7:132,374,840...132,389,297
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G |
Parp1 |
poly (ADP-ribose) polymerase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20561897 PMID:21884784 |
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NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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G |
Pcsk5 |
proprotein convertase subtilisin/kexin type 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18519639 |
|
NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600
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G |
Pomc |
proopiomelanocortin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6143199 |
|
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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G |
Ppara |
peroxisome proliferator activated receptor alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16316343 |
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NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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G |
Ppp3ca |
protein phosphatase 3 catalytic subunit alpha |
|
IEP |
|
RGD |
PMID:27009276 |
RGD:11537650 |
NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19643929 |
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NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
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G |
Pycard |
PYD and CARD domain containing |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:22647887 PMID:24508291 |
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NCBI chr 1:182,601,657...182,603,013
Ensembl chr 1:182,601,174...182,602,955
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G |
Ramp2 |
receptor activity modifying protein 2 |
|
IEP |
mRNA:increased expression:kidney |
RGD |
PMID:10733909 |
RGD:61729 |
NCBI chr10:86,187,366...86,190,692
Ensembl chr10:86,188,812...86,231,829
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G |
Rasal1 |
RAS protein activator like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23665422 |
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NCBI chr12:35,881,269...35,913,727
Ensembl chr12:35,881,270...35,913,727
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G |
Rbp4 |
retinol binding protein 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22061828 |
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NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
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G |
Relb |
RELB proto-oncogene, NF-kB subunit |
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IDA |
protein:increased localization: kidney tubule epithelium, nucleus |
RGD |
PMID:22017545 |
RGD:6483553 |
NCBI chr 1:79,257,738...79,285,490
Ensembl chr 1:79,257,725...79,285,507
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G |
Ren |
renin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6156352 PMID:8723173 PMID:12414515 |
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NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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G |
Rgn |
regucalcin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18805471 |
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NCBI chr X:1,619,030...1,634,456
Ensembl chr X:1,619,032...1,634,450
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G |
Rpgrip1l |
Rpgrip1-like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17558407 PMID:17558409 |
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NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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G |
Rrm2b |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19138848 |
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NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
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G |
Six2 |
SIX homeobox 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18570229 |
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NCBI chr 6:8,974,859...8,981,345
Ensembl chr 6:8,967,157...8,981,193
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G |
Slc12a3 |
solute carrier family 12 member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21865292 |
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NCBI chr19:10,630,649...10,679,250
Ensembl chr19:10,631,393...10,669,091
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G |
Slc22a2 |
solute carrier family 22 member 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:22525860 |
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NCBI chr 1:48,121,061...48,163,268
Ensembl chr 1:48,121,061...48,163,268
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G |
Slc47a1 |
solute carrier family 47 member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24001450 |
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NCBI chr10:46,034,115...46,088,617
Ensembl chr10:46,034,122...46,087,637
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G |
Slc7a9 |
solute carrier family 7 member 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21572414 |
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NCBI chr 1:88,109,517...88,132,653
Ensembl chr 1:88,110,644...88,132,641
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G |
Smpd1 |
sphingomyelin phosphodiesterase 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:26980705 |
|
NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794
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G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19917352 PMID:21571061 |
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NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Sparc |
secreted protein acidic and cysteine rich |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12660331 |
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NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396
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G |
Spp1 |
secreted phosphoprotein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27026710 |
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NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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G |
Srebf1 |
sterol regulatory element binding transcription factor 1 |
|
IEP |
protein:altered localization:kidney |
RGD |
PMID:15944339 |
RGD:1625196 |
NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
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G |
Srebf2 |
sterol regulatory element binding transcription factor 2 |
|
IEP |
protein:altered localization:kidney |
RGD |
PMID:15944339 |
RGD:1625196 |
NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848
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G |
Sv2b |
synaptic vesicle glycoprotein 2b |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16943307 |
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NCBI chr 1:128,978,471...129,152,479
Ensembl chr 1:128,978,473...129,152,479
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G |
Tert |
telomerase reverse transcriptase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16968891 |
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NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
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G |
Tfap2a |
transcription factor AP-2 alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19685247 |
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NCBI chr17:24,028,716...24,047,507
Ensembl chr17:24,024,432...24,047,507
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G |
Tff3 |
trefoil factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24863737 |
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NCBI chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054
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G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:11682445 PMID:14675041 PMID:18390891 |
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NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Tgfbi |
transforming growth factor, beta induced |
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IEP |
chronic cyclosporin A-induced nephropathy |
RGD |
PMID:16308546 |
RGD:1599389 |
NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240
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G |
Tgfbr1 |
transforming growth factor, beta receptor 1 |
|
IEP |
protein:increased expression:kidney |
RGD |
PMID:18198643 |
RGD:2302020 |
NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
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G |
Tgfbr2 |
transforming growth factor, beta receptor 2 |
|
IEP |
chronic nephrotoxicity;mRNA, protein:increased expression:kidney |
RGD |
PMID:16980036 |
RGD:1601593 |
NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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G |
Thg1l |
tRNA-histidine guanylyltransferase 1-like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21784897 |
|
NCBI chr10:30,387,929...30,396,579
Ensembl chr10:30,387,940...30,396,687
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G |
Tnf |
tumor necrosis factor |
|
ISO |
associated with Arthritis, Rheumatoid |
RGD |
PMID:14613268 |
RGD:10450570 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
|
ISO |
associated with Arthritis, Rheumatoid |
RGD |
PMID:14613268 |
RGD:10450570 |
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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G |
Trpc6 |
transient receptor potential cation channel, subfamily C, member 6 |
treatment |
IDA |
|
RGD |
PMID:23535151 |
RGD:7247439 |
NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
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G |
Ttc21b |
tetratricopeptide repeat domain 21B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21258341 |
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NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
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G |
Umod |
uromodulin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8486146 PMID:19430482 |
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NCBI chr 1:173,816,341...173,829,681
Ensembl chr 1:173,816,339...173,830,302
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G |
Vim |
vimentin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31697999 |
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NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
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G |
Vps33b |
VPS33B, late endosome and lysosome associated |
|
ISO |
ARC syndrome, OMIM:208085 |
RGD |
PMID:15052268 |
RGD:1599749 |
NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
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G |
Wnk1 |
WNK lysine deficient protein kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21865292 |
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NCBI chr 4:153,128,334...153,253,905
Ensembl chr 4:153,128,334...153,253,905
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G |
Wnt4 |
Wnt family member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11832423 |
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NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859
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G |
Xylt1 |
xylosyltransferase 1 |
|
IEP |
mRNA:increased expression:kidney |
RGD |
PMID:18095597 |
RGD:2313146 |
NCBI chr 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783
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G |
Mrps22 |
mitochondrial ribosomal protein S22 |
|
ISO |
ClinVar Annotator: match by term: 46 XX gonadal dysgenesis |
ClinVar |
PMID:28492532 PMID:29566152 |
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NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291
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G |
Wnt4 |
Wnt family member 4 |
|
ISO |
ClinVar Annotator: match by term: SERKAL syndrome |
OMIM ClinVar |
PMID:18179883 PMID:25741868 |
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NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859
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G |
A2m |
alpha-2-macroglobulin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23052191 |
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NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
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G |
Ace |
angiotensin I converting enzyme |
treatment |
IMP |
|
RGD |
PMID:24502693 |
RGD:11039053 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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G |
Adrb2 |
adrenoceptor beta 2 |
treatment |
IEP IMP ISO |
associated with endotoxemia; protein:increased expression:kidney associated with Endotoxemia; associated with Bacteremia; |
RGD |
PMID:14747378 PMID:19020966 PMID:19887504 PMID:14747378 |
RGD:7175276, RGD:7175283, RGD:7175281, RGD:7175276 |
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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G |
Afm |
afamin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28885000 |
|
NCBI chr14:17,531,026...17,563,868
Ensembl chr14:17,531,024...17,563,870
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G |
Ager |
advanced glycosylation end product-specific receptor |
|
ISO |
|
RGD |
PMID:21811803 |
RGD:7243868 |
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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G |
Ahsg |
alpha-2-HS-glycoprotein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28885000 |
|
NCBI chr11:78,117,903...78,145,956
Ensembl chr11:78,117,918...78,145,999
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G |
Alad |
aminolevulinate dehydratase |
|
IEP |
protein:decreased activity:kidney (rat) |
RGD |
PMID:19484701 |
RGD:4144146 |
NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
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G |
Alb |
albumin |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:2048579 PMID:21259293 PMID:24361871 PMID:28885000 |
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NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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G |
Alox5 |
arachidonate 5-lipoxygenase |
|
IMP |
|
RGD |
PMID:19194548 |
RGD:2317536 |
NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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G |
Ambp |
alpha-1-microglobulin/bikunin precursor |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD RGD |
PMID:8963945 PMID:28885000 PMID:8963945 |
RGD:6904218 |
NCBI chr 5:76,568,094...76,578,416
Ensembl chr 5:76,568,094...76,578,331
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G |
Amn |
amnion associated transmembrane protein |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:20514524 |
|
NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815
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G |
Anxa1 |
annexin A1 |
treatment |
IDA |
|
RGD |
PMID:22101490 |
RGD:7421583 |
NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
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G |
Ar |
androgen receptor |
|
IEP |
|
RGD |
PMID:24503548 |
RGD:11570523 |
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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G |
Arg1 |
arginase 1 |
|
IEP |
mRNA:decreased expression:renal tubule (rat) |
RGD |
PMID:12371970 |
RGD:631989 |
NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
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G |
Arg2 |
arginase 2 |
|
IEP |
mRNA:decreased expression:renal tubule (rat) |
RGD |
PMID:12371970 |
RGD:631989 |
NCBI chr 6:97,936,002...97,961,379
Ensembl chr 6:97,936,002...97,961,378
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G |
Atp5f1b |
ATP synthase F1 subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25666834 |
|
NCBI chr 7:515,454...521,858
Ensembl chr 7:515,460...567,273
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|
G |
Avp |
arginine vasopressin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2139164 |
|
NCBI chr 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425
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|
G |
Avpr1a |
arginine vasopressin receptor 1A |
|
IMP |
|
RGD |
PMID:17347933 |
RGD:2300348 |
NCBI chr 7:58,114,306...58,118,230
Ensembl chr 7:58,114,284...58,122,215
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|
G |
B2m |
beta-2 microglobulin |
|
IEP ISO |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:2689182 PMID:22005293 PMID:28885000 PMID:19536607 |
RGD:6482685 |
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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G |
Bad |
BCL2-associated agonist of cell death |
treatment |
IEP |
|
RGD |
PMID:20037173 |
RGD:10053672 |
NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
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G |
Bax |
BCL2 associated X, apoptosis regulator |
treatment |
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20623750 PMID:20037173 |
RGD:10053672 |
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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G |
Bcl2 |
BCL2, apoptosis regulator |
|
IEP |
protein:increased expression:kidney |
RGD |
PMID:20037173 |
RGD:10053672 |
NCBI chr13:22,689,783...22,853,920
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G |
Bcl2l1 |
Bcl2-like 1 |
|
IEP |
protein:increased expression:kidney |
RGD |
PMID:20037173 |
RGD:10053672 |
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
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G |
Bdkrb2 |
bradykinin receptor B2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24975837 |
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NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
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G |
C3 |
complement C3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28885000 |
|
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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G |
Capn1 |
calpain 1 |
treatment |
IEP |
associated with Rhabdomyolysis; |
RGD |
PMID:24158126 |
RGD:13792553 |
NCBI chr 1:203,275,912...203,300,848
Ensembl chr 1:203,277,344...203,300,177
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G |
Casp1 |
caspase 1 |
|
IMP |
|
RGD |
PMID:16557226 |
RGD:2293624 |
NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
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G |
Ccl11 |
C-C motif chemokine ligand 11 |
|
ISO |
protein:increased expression:kidney |
RGD |
PMID:22778179 |
RGD:7247739 |
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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G |
Ccl3 |
C-C motif chemokine ligand 3 |
|
ISO |
|
RGD |
PMID:20482449 |
RGD:6906908 |
NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
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G |
Ccl5 |
C-C motif chemokine ligand 5 |
|
ISO |
protein:increased secretion:serum (mouse) |
RGD |
PMID:19508392 |
RGD:4889990 |
NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
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G |
Ccr5 |
C-C motif chemokine receptor 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26055553 |
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NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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G |
Cct7 |
chaperonin containing TCP1 subunit 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31825490 |
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NCBI chr 4:117,989,232...118,006,478
Ensembl chr 4:117,989,232...118,006,580
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G |
Cd44 |
CD44 molecule (Indian blood group) |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23052191 |
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NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620
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G |
Cdkn1b |
cyclin-dependent kinase inhibitor 1B |
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IEP |
protein:decreased expression:kidney |
RGD |
PMID:16557226 |
RGD:2293624 |
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
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G |
Clu |
clusterin |
|
IEP ISO |
protein:increased expression:urine CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20118187 PMID:20623750 PMID:22005293 PMID:23052191 PMID:24361871 PMID:28885000 PMID:22581811 More...
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RGD:7245501 |
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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G |
Cp |
ceruloplasmin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28885000 |
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NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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G |
Crp |
C-reactive protein |
|
IEP ISO |
protein:increased expression:serum associated with Myocardial Infarction; |
RGD |
PMID:22551254 PMID:22694718 |
RGD:6903282, RGD:6906888 |
NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
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G |
Csf1 |
colony stimulating factor 1 |
|
ISO |
|
RGD |
PMID:23143303 |
RGD:7257565 |
NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
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G |
Csf1r |
colony stimulating factor 1 receptor |
|
ISO |
|
RGD |
PMID:23143303 |
RGD:7257565 |
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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G |
Cst3 |
cystatin C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22005293 PMID:28885000 |
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NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
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G |
Cxcl1 |
C-X-C motif chemokine ligand 1 |
|
ISO |
mRNA:increased expression:kidney, liver, spleen |
RGD |
PMID:21677145 |
RGD:7175314 |
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
treatment |
ISO |
|
RGD |
PMID:19890363 PMID:18495746 |
RGD:7257732, RGD:7257735 |
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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G |
Cyp1a2 |
cytochrome P450, family 1, subfamily a, polypeptide 2 |
treatment |
ISO |
|
RGD |
PMID:23981375 PMID:18495746 |
RGD:7257727, RGD:7257735 |
NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
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G |
Cyp27b1 |
cytochrome P450, family 27, subfamily b, polypeptide 1 |
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IDA |
|
RGD |
PMID:6223803 |
RGD:2307326 |
NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
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G |
Cyp2c6v1 |
cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19814645 |
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NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
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G |
Cyp2d4 |
cytochrome P450, family 2, subfamily d, polypeptide 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19814645 |
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NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
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G |
Cyp2e1 |
cytochrome P450, family 2, subfamily e, polypeptide 1 |
treatment |
IEP |
|
RGD |
PMID:24717297 PMID:24412858 |
RGD:14700914, RGD:14700920 |
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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G |
Cyp3a23-3a1 |
cytochrome P450, family 3, subfamily a, polypeptide 23-polypeptide 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20623750 |
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NCBI chr12:9,256,159...9,285,020
Ensembl chr12:9,254,475...9,285,030
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G |
Ddit3 |
DNA-damage inducible transcript 3 |
|
IEP |
Protein:increased expression:renal tubule epithelium |
RGD |
PMID:15476864 |
RGD:1599736 |
NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
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G |
Ece1 |
endothelin converting enzyme 1 |
|
IMP IEP |
|
RGD |
PMID:11043448 PMID:10073607 |
RGD:7244180, RGD:7244185 |
NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
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G |
Edn1 |
endothelin 1 |
|
ISO |
mRNA, protein:increased expression:kidney (mouse) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:9788586 PMID:19967049 |
RGD:4144852 |
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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G |
Egf |
epidermal growth factor |
|
ISO IEP |
mRNA:decreased expression:kidney |
RGD |
PMID:20482449 PMID:11340354 |
RGD:6906908, RGD:10395241 |
NCBI chr 2:218,219,408...218,302,370
Ensembl chr 2:218,219,415...218,302,064
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G |
Egfr |
epidermal growth factor receptor |
|
IEP ISO |
mRNA:increased expression:kidney CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:14638913 PMID:11340354 |
RGD:10395241 |
NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
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G |
Egln1 |
egl-9 family hypoxia-inducible factor 1 |
|
IEP |
mRNA, protein:decreased expression:kidney |
RGD |
PMID:19349364 |
RGD:11252083 |
NCBI chr19:52,867,914...52,907,169
Ensembl chr19:52,869,486...52,907,777
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G |
Egln3 |
egl-9 family hypoxia-inducible factor 3 |
|
IEP |
mRNA, protein:decreased expression:kidney |
RGD |
PMID:19349364 |
RGD:11252083 |
NCBI chr 6:71,650,297...71,675,766
Ensembl chr 6:71,650,297...71,675,766
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G |
Epas1 |
endothelial PAS domain protein 1 |
treatment |
IDA |
|
RGD |
PMID:16762988 |
RGD:10395386 |
NCBI chr 6:7,790,236...7,871,246
Ensembl chr 6:7,790,647...7,871,228
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G |
Ephx2 |
epoxide hydrolase 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:26165641 |
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NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615
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G |
Epo |
erythropoietin |
treatment |
ISO |
CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:21847101 PMID:24561306 PMID:22209169 PMID:22235348 |
RGD:10400913, RGD:11041660 |
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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G |
Fas |
Fas cell surface death receptor |
|
ISO |
protein:increased expression:renal tubule (rat) |
RGD |
PMID:21374789 |
RGD:8663469 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Fga |
fibrinogen alpha chain |
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IEP |
mRNA:increased expression:kidney (rat) |
RGD |
PMID:15805072 |
RGD:9685024 |
NCBI chr 2:168,365,364...168,381,533
Ensembl chr 2:168,374,120...168,381,528
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G |
Fis1 |
fission, mitochondrial 1 |
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IEP |
protein:decreased expression:kidney (rat) |
RGD |
PMID:26480480 |
RGD:12910862 |
NCBI chr12:19,708,558...19,723,392
Ensembl chr12:19,708,558...19,723,377
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G |
Fn1 |
fibronectin 1 |
|
IEP |
protein:increased expression:kidney |
RGD |
PMID:12884040 PMID:11768240 |
RGD:7205684, RGD:729934 |
NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
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G |
Fstl1 |
follistatin-like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20861081 |
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NCBI chr11:62,895,391...62,948,581
Ensembl chr11:62,779,783...62,948,677
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G |
G6pd |
glucose-6-phosphate dehydrogenase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:602954 PMID:734759 PMID:4794122 |
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NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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G |
Gas6 |
growth arrest specific 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19564549 |
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NCBI chr16:76,045,430...76,075,904
Ensembl chr16:76,045,426...76,075,904
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G |
Gatm |
glycine amidinotransferase |
|
IEP |
protein:decreased activity:kidney (rat) |
RGD |
PMID:2752493 |
RGD:1599823 |
NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129
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G |
Gc |
GC, vitamin D binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28885000 |
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NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
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G |
Gfer |
growth factor, augmenter of liver regeneration |
treatment |
IEP ISO IDA |
protein:increased expression:cortex of kidney,renal medulla: CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:20030531 PMID:20030531 PMID:20030531 |
RGD:9685736, RGD:9685736 |
NCBI chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869
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G |
Ghrl |
ghrelin and obestatin prepropeptide |
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ISO |
|
RGD |
PMID:19625378 |
RGD:7242430 |
NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621
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G |
Got2 |
glutamic-oxaloacetic transaminase 2 |
|
IEP |
protein:decreased activity:kidney (rat) |
RGD |
PMID:23924727 |
RGD:13506245 |
NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994
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G |
Gpnmb |
glycoprotein nmb |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23052191 |
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NCBI chr 4:78,010,247...78,031,491
Ensembl chr 4:78,010,197...78,049,367
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G |
Gsk3b |
glycogen synthase kinase 3 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22785175 |
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NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646
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G |
Gsr |
glutathione-disulfide reductase |
|
IEP ISO |
glycerol-induced protein:decreased activity:kidney: |
RGD |
PMID:1870354 PMID:22286819 |
RGD:7257559, RGD:7257585 |
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
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G |
Gsta1 |
glutathione S-transferase alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28885000 |
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NCBI chr 9:23,703,476...23,720,121
Ensembl chr 9:23,703,477...23,720,121
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G |
Gstm2 |
glutathione S-transferase mu 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20623750 |
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NCBI chr 2:195,624,015...195,628,774
Ensembl chr 2:195,544,426...195,628,961
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G |
Gstp1 |
glutathione S-transferase pi 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20623750 PMID:20798258 |
RGD:6903954 |
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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G |
Havcr1 |
hepatitis A virus cellular receptor 1 |
|
IEP ISO |
protein:increased expression:urine CTD Direct Evidence: marker/mechanism protein:increased expression:urine: associated with Pyelonephritis;protein:increased expression:urine: |
CTD RGD |
PMID:20118187 PMID:21259293 PMID:21835770 PMID:22005293 PMID:23052191 PMID:23845967 PMID:24189134 PMID:24361871 PMID:24958931 PMID:28885000 PMID:23683031 PMID:23019274 PMID:23319831 More...
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RGD:7244370, RGD:7245495, RGD:7245472 |
NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
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G |
Hbegf |
heparin-binding EGF-like growth factor |
|
IEP ISO |
mRNA:increased expression:kidney CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:7635938 PMID:11340354 |
RGD:10395241 |
NCBI chr18:28,106,284...28,116,167
Ensembl chr18:28,105,760...28,116,441
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G |
Hdac2 |
histone deacetylase 2 |
treatment |
ISO |
associated with sepsis; |
RGD |
PMID:22933299 |
RGD:9590257 |
NCBI chr20:40,548,250...40,571,609
Ensembl chr20:40,548,250...40,571,609
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G |
Hdac3 |
histone deacetylase 3 |
|
IEP |
|
RGD |
PMID:21416250 |
RGD:10047111 |
NCBI chr18:29,770,637...29,789,850
Ensembl chr18:29,770,636...29,793,856
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G |
Hdac5 |
histone deacetylase 5 |
treatment |
ISO IEP |
associated with sepsis; |
RGD |
PMID:22933299 PMID:21416250 |
RGD:9590257, RGD:10047111 |
NCBI chr10:87,152,978...87,187,921
Ensembl chr10:87,152,978...87,188,235
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G |
Hes1 |
hes family bHLH transcription factor 1 |
|
IEP |
mRNA:increased expression:kidney collecting duct (rat) protein:increased expression:kidney tubule (rat) |
RGD |
PMID:24397211 PMID:24325066 |
RGD:9685383, RGD:9685389 |
NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192
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G |
Hexb |
hexosaminidase subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22005293 |
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NCBI chr 2:28,483,997...28,504,165
Ensembl chr 2:28,484,012...28,504,223
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G |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
treatment |
IEP IDA |
mRNA:increased expression:renal cortex (rat) |
RGD |
PMID:18593636 PMID:16762988 PMID:15673301 |
RGD:9068894, RGD:10395386, RGD:10395376 |
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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G |
Hmgcr |
3-hydroxy-3-methylglutaryl-CoA reductase |
|
ISO |
associated with Sepsis |
RGD |
PMID:16557230 |
RGD:5508471 |
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
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G |
Hmox1 |
heme oxygenase 1 |
treatment |
IMP ISO |
associated with Sepsis CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:21048024 PMID:23807243 |
RGD:10755583 |
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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G |
Hp |
haptoglobin |
|
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:28885000 PMID:19270397 |
RGD:11041863 |
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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G |
Hpx |
hemopexin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28885000 |
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NCBI chr 1:159,932,819...159,940,327
Ensembl chr 1:159,932,755...159,940,328
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G |
Hspa1a |
heat shock protein family A (Hsp70) member 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12690470 PMID:19546256 |
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G |
Hspa8 |
heat shock protein family A (Hsp70) member 8 |
|
IEP |
protein:increased expression:kidney, lysosome (rat) |
RGD |
PMID:14966137 |
RGD:7242786 |
NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259
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G |
Icam1 |
intercellular adhesion molecule 1 |
treatment |
IEP |
|
RGD |
PMID:22659586 |
RGD:7175102 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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G |
Igf1 |
insulin-like growth factor 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:7540432 |
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NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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G |
Igf1r |
insulin-like growth factor 1 receptor |
|
IEP |
mRNA: decreased expression: kidney: both cortex and medulla |
RGD |
PMID:9767523 |
RGD:7242908 |
NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
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G |
Igfbp1 |
insulin-like growth factor binding protein 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:7540432 |
|
NCBI chr14:82,047,415...82,052,482
Ensembl chr14:82,047,415...82,052,482
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G |
IgG-2a |
gamma-2a immunoglobulin heavy chain |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28885000 |
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G |
Il10 |
interleukin 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18460982 |
|
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il18 |
interleukin 18 |
|
ISO |
|
RGD |
PMID:11342578 |
RGD:6893450 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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G |
Il1a |
interleukin 1 alpha |
|
ISO |
|
RGD |
PMID:21716595 |
RGD:6907069 |
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
Il1b |
interleukin 1 beta |
|
IDA ISO IEP |
mRNA:increased expression:kidney, liver, spleen (mouse) protein:increased expression:kidney (rat) |
RGD |
PMID:22750969 PMID:21677145 PMID:22286667 PMID:22659586 |
RGD:7175094, RGD:7175314, RGD:7175258, RGD:7175102 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il1rn |
interleukin 1 receptor antagonist |
|
ISO |
associated with Sepsis associated with Asphyxia; rat model treated with human protein |
RGD |
PMID:16763508 PMID:14610321 PMID:16259926 |
RGD:6907360, RGD:6907375, RGD:6907369 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Il20 |
interleukin 20 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18496552 |
|
NCBI chr13:42,380,981...42,384,625
Ensembl chr13:42,380,981...42,384,625
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G |
Il6 |
interleukin 6 |
|
ISO |
associated with Acute Lung Injury;protein:increased expression:plasma CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:21570986 PMID:18074478 |
RGD:5128661 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Ins2 |
insulin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12243603 |
|
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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G |
Jak2 |
Janus kinase 2 |
treatment |
ISO |
associated with Carcinoma, Lewis Lung, human cells in mouse model |
RGD |
PMID:31250048 |
RGD:149735351 |
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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G |
Klk1 |
kallikrein 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18227104 |
|
NCBI chr 1:94,642,722...94,646,714
Ensembl chr 1:94,642,687...94,646,754
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G |
Kng2 |
kininogen 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:513486 PMID:3015452 |
|
NCBI chr11:77,913,876...77,936,247
Ensembl chr11:77,909,612...78,002,971
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G |
Lcn2 |
lipocalin 2 |
|
IEP ISO |
protein:increased expression:urine associated with open cardiac surgeries;protein:increased expression:urine: CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20623750 PMID:22005293 PMID:23052191 PMID:27888128 PMID:28885000 PMID:23683031 PMID:23336369 PMID:28411423 More...
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RGD:7244370, RGD:126781714, RGD:125973912 |
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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G |
Lgals3 |
galectin 3 |
|
IEP |
mRNA:increased expression:kidney |
RGD |
PMID:10980121 |
RGD:9685228 |
NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025
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G |
Lrg1 |
leucine-rich alpha-2-glycoprotein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34677723 |
|
NCBI chr 9:947,516...949,773
Ensembl chr 9:947,516...949,813
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G |
Lrp2 |
LDL receptor related protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29286200 |
|
NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
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G |
Mb |
myoglobin |
|
ISO IDA |
protein: increased expression: serum |
RGD |
PMID:23497406 PMID:9822635 |
RGD:7244253, RGD:7244259 |
NCBI chr 7:108,759,903...108,767,134
Ensembl chr 7:108,759,904...108,767,383
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G |
Met |
MET proto-oncogene, receptor tyrosine kinase |
|
IEP |
protein:increased expression:renal parenchyma (rat) |
RGD |
PMID:17940345 |
RGD:2317469 |
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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G |
Mfn1 |
mitofusin 1 |
|
IEP |
protein:decreased expression:kidney (rat) |
RGD |
PMID:26480480 |
RGD:12910862 |
NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640
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G |
Mir10a |
microRNA 10a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30682439 |
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NCBI chr10:81,283,171...81,283,280
Ensembl chr10:81,283,171...81,283,280
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G |
Mir122 |
microRNA 122 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30682439 |
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NCBI chr18:58,758,703...58,758,787
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G |
Mir140 |
microRNA 140 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30682439 |
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NCBI chr19:35,465,577...35,465,675
Ensembl chr19:35,465,577...35,465,675
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G |
Mir143 |
microRNA 143 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30682439 |
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NCBI chr18:55,101,006...55,101,110
Ensembl chr18:55,101,006...55,101,110
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G |
Mir146b |
microRNA 146b |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30682439 |
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NCBI chr 1:245,203,438...245,203,525
Ensembl chr 1:245,203,438...245,203,525
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G |
Mir148a |
microRNA 148a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30682439 |
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NCBI chr 4:80,333,762...80,333,858
Ensembl chr 4:80,333,762...80,333,858
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G |
Mir151 |
microRNA 151 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30682439 |
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NCBI chr 7:105,172,377...105,172,473
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G |
Mir152 |
microRNA 152 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32583487 |
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NCBI chr10:81,832,936...81,833,020
Ensembl chr10:81,832,936...81,833,020
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G |
Mir192 |
microRNA 192 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30682439 |
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NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055
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G |
Mir23a |
microRNA 23a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30682439 |
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NCBI chr19:23,954,997...23,955,071
Ensembl chr19:23,954,997...23,955,071
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G |
Mir25 |
microRNA 25 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30682439 |
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NCBI chr12:17,042,932...17,043,015
Ensembl chr12:17,042,932...17,043,015
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G |
Mir26a |
microRNA 26a |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30682439 |
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NCBI chr 8:118,755,289...118,755,378
Ensembl chr 8:118,755,289...118,755,378
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G |
Mir30a |
microRNA 30a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30682439 |
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NCBI chr 9:25,737,600...25,737,670
Ensembl chr 9:25,737,600...25,737,670
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G |
Mir30d |
microRNA 30d |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30682439 |
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NCBI chr 7:100,136,391...100,136,472
Ensembl chr 7:100,136,391...100,136,472
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G |
Mir3473 |
microRNA 3473 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30682439 |
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NCBI chr13:39,499,246...39,499,312
Ensembl chr13:39,499,246...39,499,312
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G |
Mir486 |
microRNA 486 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30682439 |
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G |
Mir99a |
microRNA 99a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30682439 |
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NCBI chr11:16,200,443...16,200,523
Ensembl chr11:16,200,443...16,200,523
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G |
Mirlet7i |
microRNA let-7i |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30682439 |
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NCBI chr 7:58,642,485...58,642,569
Ensembl chr 7:58,642,480...58,642,571
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G |
Mpo |
myeloperoxidase |
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ISO IDA |
DNA:haplotye: : CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20623750 PMID:22739978 PMID:19793022 |
RGD:6909168, RGD:6909185 |
NCBI chr10:72,594,458...72,608,862
Ensembl chr10:72,594,661...72,604,819
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G |
Mthfr |
methylenetetrahydrofolate reductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17387702 |
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NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Mtor |
mechanistic target of rapamycin kinase |
|
IMP |
|
RGD |
PMID:23022334 |
RGD:7245507 |
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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G |
Muc20 |
mucin 20, cell surface associated |
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ISO |
|
RGD |
PMID:14565953 |
RGD:7364790 |
NCBI chr11:67,987,729...68,003,997
Ensembl chr11:67,987,800...68,001,495
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G |
Mug1 |
murinoglobulin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28885000 |
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NCBI chr 4:155,076,270...155,130,051
Ensembl chr 4:155,076,312...155,130,051
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G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
susceptibility |
ISO |
protein:decreased phosphorylation:kidney (mouse) |
RGD |
PMID:23228991 |
RGD:7207407 |
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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G |
Ndufb8 |
NADH:ubiquinone oxidoreductase subunit B8 |
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IEP |
|
RGD |
PMID:22160772 |
RGD:13801199 |
NCBI chr 1:243,408,659...243,413,701
Ensembl chr 1:243,408,619...243,413,817
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G |
Nes |
nestin |
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IEP |
|
RGD |
PMID:24503548 |
RGD:11570523 |
NCBI chr 2:173,437,867...173,447,777
Ensembl chr 2:173,438,734...173,447,777
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G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
treatment |
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:24958931 PMID:24291173 |
RGD:10412697 |
NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
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G |
Nfkb1 |
nuclear factor kappa B subunit 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29286200 |
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NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
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G |
Nos2 |
nitric oxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9810145 |
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NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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G |
Nos3 |
nitric oxide synthase 3 |
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ISO IEP |
CTD Direct Evidence: marker/mechanism in females;mRNA:increased expression:cortex of kidney (rat) |
CTD RGD |
PMID:9788586 PMID:28947737 |
RGD:13450947 |
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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G |
Nppa |
natriuretic peptide A |
|
IEP ISO |
mRNA:increased expression:kidney CTD Direct Evidence: marker/mechanism|therapeutic |
CTD RGD |
PMID:1825077 PMID:2948068 PMID:19298916 PMID:22209992 |
RGD:7247715 |
NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
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G |
Nppb |
natriuretic peptide B |
|
ISO IEP |
associated with lung diseases;protein:increased expression:serum: mRNA:increased expression:kidney associated with Myocardial Infarction;protein:increased expression:serum: associated with Pneumonia;protein:increased expression:serum: |
RGD |
PMID:23837838 PMID:22209992 PMID:23192919 PMID:23415693 |
RGD:7247620, RGD:7247715, RGD:7247624, RGD:7247622 |
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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G |
Nqo1 |
NAD(P)H quinone dehydrogenase 1 |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:26723870 PMID:28230744 |
RGD:13440091 |
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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G |
Ocln |
occludin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19766176 |
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NCBI chr 2:31,657,217...31,707,466
Ensembl chr 2:31,657,220...31,764,150
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G |
Orm1 |
orosomucoid 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28885000 |
|
NCBI chr 5:76,766,637...76,776,149
Ensembl chr 5:76,772,941...76,776,154
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G |
Parp1 |
poly (ADP-ribose) polymerase 1 |
|
ISO |
|
RGD |
PMID:21884784 |
RGD:5510015 |
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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G |
Pkd2 |
polycystin 2, transient receptor potential cation channel |
|
IEP |
protein:altered localization |
RGD |
PMID:12089381 |
RGD:7175293 |
NCBI chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825
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G |
Plat |
plasminogen activator, tissue type |
|
ISO |
protein:increased expression:plasma (human) |
RGD |
PMID:9767551 |
RGD:11541071 |
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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G |
Plg |
plasminogen |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28885000 |
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NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786
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G |
Pomc |
proopiomelanocortin |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17216604 |
|
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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G |
Pparg |
peroxisome proliferator-activated receptor gamma |
treatment |
IDA ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD RGD |
PMID:20623750 PMID:24011919 PMID:24433871 PMID:17494862 |
RGD:8553020 |
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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G |
Ppargc1a |
PPARG coactivator 1 alpha |
|
ISO |
associated with Endotoxemia; mRNA:decreased expression:kidney (mouse) |
RGD |
PMID:21881206 |
RGD:7242026 |
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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G |
Proc |
protein C, inactivator of coagulation factors Va and VIIIa |
treatment |
ISO |
|
RGD |
PMID:19092124 |
RGD:11250410 |
NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
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G |
Procr |
protein C receptor |
treatment |
IEP |
associated with Sepsis |
RGD |
PMID:23807243 |
RGD:10755583 |
NCBI chr 3:144,254,596...144,258,863
Ensembl chr 3:144,254,380...144,258,903
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G |
Ptafr |
platelet-activating factor receptor |
treatment |
IMP |
associated with Endotoxemia |
RGD |
PMID:2538527 |
RGD:10043182 |
NCBI chr 5:144,765,770...144,795,057
Ensembl chr 5:144,765,976...144,795,251
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G |
Ptger4 |
prostaglandin E receptor 4 |
treatment |
IMP |
|
RGD |
PMID:16871242 |
RGD:10003092 |
NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
IMP |
|
RGD |
PMID:21893983 |
RGD:5508181 |
NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
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G |
Rapgef3 |
Rap guanine nucleotide exchange factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21745194 |
|
NCBI chr 7:128,875,772...128,898,203
Ensembl chr 7:128,875,773...128,898,521
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G |
Rb1 |
RB transcriptional corepressor 1 |
|
IEP |
associated with Sepsis;protein:increased phosphorylation:kidney |
RGD |
PMID:19428114 |
RGD:8547990 |
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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G |
Ren |
renin |
exacerbates |
ISO |
Associated with toxic shock syndrome;protein:increased expression:blood plasma (human) |
RGD |
PMID:30407370 |
RGD:125097506 |
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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G |
Rup2 |
urinary protein 2 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28885000 |
|
NCBI chr 8:35,336,764...35,340,345
Ensembl chr 8:35,336,764...35,489,103
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|
G |
Scgb1a1 |
secretoglobin family 1A member 1 |
|
IEP |
associated with LPS induced endotoxemia |
RGD |
PMID:18824919 |
RGD:2313129 |
NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610
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G |
Serpina1 |
serpin family A member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28885000 |
|
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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|
G |
Serpinc1 |
serpin family C member 1 |
|
ISO |
associated with heart failure; protein:decreased activity:plasma: |
RGD |
PMID:26108065 |
RGD:11354006 |
NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
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|
G |
Sirt1 |
sirtuin 1 |
severity |
IEP ISO |
protein:increased expression:kidney (rat) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21416250 PMID:21416250 |
RGD:10047111 |
NCBI chr20:25,307,143...25,329,260
Ensembl chr20:25,306,917...25,329,260
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|
G |
Slc11a1 |
solute carrier family 11 member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20623750 |
|
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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|
G |
Slc22a1 |
solute carrier family 22 member 1 |
treatment |
IDA |
|
RGD |
PMID:22414646 |
RGD:7243179 |
NCBI chr 1:48,076,657...48,103,679
Ensembl chr 1:48,076,666...48,103,678
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G |
Slc22a12 |
solute carrier family 22 member 12 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14655203 |
|
NCBI chr 1:203,845,039...203,852,496
Ensembl chr 1:203,845,048...203,853,555
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G |
Slc22a2 |
solute carrier family 22 member 2 |
treatment susceptibility |
IDA ISO IEP |
DNA:SNP: :808G>T (rs316019) human mRNA:decreased expression:kidney |
RGD |
PMID:22414646 PMID:19625999 PMID:18612803 |
RGD:7243179, RGD:7243884, RGD:7243880 |
NCBI chr 1:48,121,061...48,163,268
Ensembl chr 1:48,121,061...48,163,268
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G |
Slc22a24 |
solute carrier family 22, member 24 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23649842 PMID:26230185 |
|
NCBI chr 1:204,910,450...204,965,538
Ensembl chr 1:204,910,455...204,965,538
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G |
Slc34a1 |
solute carrier family 34 member 1 |
disease_progression |
ISO |
associated with Sepsis; protein:decreased expression:renal proximal tubule (mouse) |
RGD |
PMID:19729856 |
RGD:7242943 |
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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G |
Sod1 |
superoxide dismutase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28885000 |
|
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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|
G |
Spp1 |
secreted phosphoprotein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11274264 PMID:20623750 PMID:22863853 |
RGD:6903264 |
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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G |
Tf |
transferrin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28885000 |
|
NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
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G |
Tff3 |
trefoil factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23052191 |
|
NCBI chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054
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G |
Tgfa |
transforming growth factor alpha |
|
IEP |
mRNA:increased expression:kidney |
RGD |
PMID:11340354 |
RGD:10395241 |
NCBI chr 4:118,618,043...118,700,897
Ensembl chr 4:118,618,269...118,700,894
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G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10469268 |
|
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Tgfbr1 |
transforming growth factor, beta receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34677723 |
|
NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
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G |
Thbd |
thrombomodulin |
treatment |
IDA ISO |
|
RGD |
PMID:19176699 PMID:17804460 |
RGD:5684994, RGD:5685010 |
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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G |
Tlr2 |
toll-like receptor 2 |
|
ISO |
associated with Sepsis CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:29286200 PMID:22655058 |
RGD:7207898 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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G |
Tlr4 |
toll-like receptor 4 |
treatment |
ISO IDA |
associated with Sepsis CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:29286200 PMID:22655058 PMID:16638912 PMID:22266601 |
RGD:7207898, RGD:7241084, RGD:6892690 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Tlr9 |
toll-like receptor 9 |
|
ISO |
associated with Sepsis |
RGD |
PMID:23548820 |
RGD:7245966 |
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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G |
Tnf |
tumor necrosis factor |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16595132 PMID:18460982 PMID:20623750 PMID:21150875 |
RGD:7245548 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Tnfrsf12a |
TNF receptor superfamily member 12A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23052191 |
|
NCBI chr10:12,707,077...12,709,071
Ensembl chr10:12,689,890...12,709,045
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
susceptibility |
ISO |
associated with Acute Lung Injury associated with Endotoxemia associated with Shock, Septic;protein:increased expression:serum |
RGD |
PMID:18074478 PMID:21150875 PMID:12023385 PMID:12500222 |
RGD:5128661, RGD:7245548, RGD:7245535, RGD:7245534 |
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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G |
Tnfrsf1b |
TNF receptor superfamily member 1B |
|
ISO |
associated with Acute Lung Injury associated with Shock, Septic;protein:increased expression:serum |
RGD |
PMID:18074478 PMID:12500222 PMID:12865254 |
RGD:5128661, RGD:7245534, RGD:7245532 |
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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G |
Tp53 |
tumor protein p53 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20603111 |
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Ttr |
transthyretin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28885000 |
|
NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
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G |
Ugt1a1 |
UDP glucuronosyltransferase family 1 member A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:3864191 |
|
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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G |
Ugt1a9 |
UDP glucuronosyltransferase family 1 member A9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20623750 |
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NCBI chr 9:88,696,981...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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G |
Uts2r |
urotensin 2 receptor |
|
IMP |
|
RGD |
PMID:15146030 |
RGD:2306847 |
NCBI chr10:106,438,092...106,439,252
Ensembl chr10:106,438,092...106,439,252
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G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:20943766 PMID:22808199 |
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NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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G |
Wnt4 |
Wnt family member 4 |
|
IDA |
|
RGD |
PMID:12707392 |
RGD:727218 |
NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859
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G |
Xdh |
xanthine dehydrogenase |
treatment |
IDA ISO |
associated with Reperfusion Injury |
RGD |
PMID:22571266 PMID:18539378 PMID:19628223 |
RGD:7247641, RGD:7247656, RGD:7247650 |
NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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G |
Ak4 |
adenylate kinase 4 |
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IEP |
protein:decreased expression:kidney (rat) |
RGD |
PMID:21152904 |
RGD:5134352 |
NCBI chr 5:116,039,222...116,099,064
Ensembl chr 5:116,039,616...116,098,618
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G |
Bmp7 |
bone morphogenetic protein 7 |
|
IEP |
associated with Kidney Reperfusion Injury;protein:increased expression:kidney |
RGD |
PMID:16284088 |
RGD:1601494 |
NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788
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G |
Cct7 |
chaperonin containing TCP1 subunit 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31825490 |
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NCBI chr 4:117,989,232...118,006,478
Ensembl chr 4:117,989,232...118,006,580
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G |
Ciita |
class II, major histocompatibility complex, transactivator |
|
ISO |
mRNA:increased expression:kidney |
RGD |
PMID:9422398 |
RGD:7242901 |
NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
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G |
Fabp1 |
fatty acid binding protein 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18368030 |
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NCBI chr 4:103,191,015...103,194,791
Ensembl chr 4:103,191,006...103,194,788
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G |
Gsr |
glutathione-disulfide reductase |
|
ISO IEP |
protein:decreased activity:renal cortex: |
RGD |
PMID:17078987 PMID:12885594 |
RGD:7257555, RGD:7257573 |
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
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G |
Havcr1 |
hepatitis A virus cellular receptor 1 |
|
ISO |
protein:increased expression:kidney tubule, urine: |
RGD |
PMID:12081583 |
RGD:7245970 |
NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
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G |
Nog |
noggin |
|
IEP |
associated with Kidney Reperfusion Injury |
RGD |
PMID:16284088 |
RGD:1601494 |
NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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G |
Pomc |
proopiomelanocortin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:4358912 PMID:6254450 |
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NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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G |
Ppara |
peroxisome proliferator activated receptor alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19834340 |
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NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:19917352 |
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NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Tek |
TEK receptor tyrosine kinase |
|
IEP |
associated with Kidney Reperfusion Injury |
RGD |
PMID:16284088 |
RGD:1601494 |
NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804
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|
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G |
Cxcr2 |
C-X-C motif chemokine receptor 2 |
susceptibility |
ISO |
DNA:polymorphism: :1208C>T (human) |
RGD |
PMID:22325052 |
RGD:7207860 |
NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
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G |
Apoa1 |
apolipoprotein A1 |
|
ISO |
|
RGD |
PMID:22659101 |
RGD:7241207 |
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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G |
Tlr2 |
toll-like receptor 2 |
|
ISO |
|
RGD |
PMID:22194975 |
RGD:7207900 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
|
RGD |
PMID:22194975 |
RGD:7207900 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Agtr1a |
angiotensin II receptor, type 1a |
|
ISO |
|
RGD |
PMID:2 |
RGD:1303381 |
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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G |
Agtr2 |
angiotensin II receptor, type 2 |
|
ISO |
|
RGD |
PMID:2 |
RGD:1303381 |
NCBI chr X:112,119,673...112,124,060
Ensembl chr X:112,120,228...112,124,057
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G |
Egf |
epidermal growth factor |
|
ISO |
|
RGD |
PMID:19357719 |
RGD:6906909 |
NCBI chr 2:218,219,408...218,302,370
Ensembl chr 2:218,219,415...218,302,064
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G |
Hp |
haptoglobin |
|
ISO |
protein:increased expression:urine |
RGD |
PMID:19279121 |
RGD:11041816 |
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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G |
Mtor |
mechanistic target of rapamycin kinase |
|
ISO |
|
RGD |
PMID:23678040 PMID:23678040 |
RGD:7245474, RGD:7245474 |
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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G |
Myh9 |
myosin, heavy chain 9 |
|
ISO |
protein:decreased expression:glomerulus |
RGD |
PMID:22313957 |
RGD:6903274 |
NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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G |
Notch4 |
notch receptor 4 |
|
IEP |
protein: increased expression: kidney |
RGD |
PMID:20706108 |
RGD:6480788 |
NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
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G |
Nphs1 |
NPHS1 adhesion molecule, nephrin |
treatment |
ISO |
|
RGD |
PMID:19188342 PMID:17229913 |
RGD:38596324, RGD:38599164 |
NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078
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G |
Ace |
angiotensin I converting enzyme |
treatment |
ISO IMP |
associated with Diabetes Mellitus, Type 1;protein:increased activity:serum (human) associated with Diabetic Nephropathies CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23733546 PMID:1336356 PMID:16902320 |
RGD:7829770, RGD:12879427 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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G |
Adm |
adrenomedullin |
|
ISO |
associated with Hypertension |
RGD |
PMID:19424162 |
RGD:2313311 |
NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
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G |
Ager |
advanced glycosylation end product-specific receptor |
treatment |
ISO IDA |
associated with Diabetes Mellitus, Type 2; protein:increased expression:serum (human) associated with Diabetes Mellitus, Experimental associated with Diabetic Nephropathies |
RGD |
PMID:21607631 PMID:21796806 PMID:20627935 |
RGD:7243944, RGD:7244184, RGD:7244135 |
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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G |
Agt |
angiotensinogen |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12414515 PMID:18679781 PMID:21896938 PMID:15118671 |
RGD:1331525 |
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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G |
Akr1b1 |
aldo-keto reductase family 1 member B1 |
|
ISO |
associated with Diabetes Mellitus, Experimental;human gene in a rat model |
RGD |
PMID:12166624 |
RGD:8548813 |
NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157
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G |
Alb |
albumin |
|
ISO IEP |
associated with Diabetes Mellitus, Insulin-Dependent associated with hypertension |
RGD |
PMID:19414946 PMID:15102963 |
RGD:2306884, RGD:1601157 |
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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G |
Alox12 |
arachidonate 12-lipoxygenase, 12S type |
|
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphism:cds:p.R261Q (human) |
RGD |
PMID:18640486 |
RGD:2313875 |
NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542
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G |
B2m |
beta-2 microglobulin |
|
ISO |
associated with HIV infections;protein:increased expression:urine |
RGD |
PMID:18469311 |
RGD:6482713 |
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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G |
Casp1 |
caspase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22647887 |
|
NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
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G |
Casr |
calcium-sensing receptor |
|
IDA |
associated with Uremia |
RGD |
PMID:19188910 |
RGD:7205661 |
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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|
G |
Ccl4 |
C-C motif chemokine ligand 4 |
|
ISO |
associated with Diabetes Mellitus, Type 2;protein:increased expression:urine |
RGD |
PMID:21113841 |
RGD:5683918 |
NCBI chr10:68,466,469...68,467,941
Ensembl chr10:68,452,052...68,468,231
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|
G |
Cd38 |
CD38 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21992601 |
|
NCBI chr14:67,172,062...67,212,328
Ensembl chr14:67,172,063...67,211,986
|
|
G |
Ciita |
class II, major histocompatibility complex, transactivator |
|
ISO |
DNA:polymorphism:promoter:-168A>G, in non-diabetic subjects (human) |
RGD |
PMID:17183695 |
RGD:5491201 |
NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
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|
G |
Cp |
ceruloplasmin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21752484 |
|
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
|
|
G |
Crp |
C-reactive protein |
severity |
ISO |
associated with Anemia, Sickle Cell; protein:increased expression:serum associated with hypertension |
RGD |
PMID:20710104 PMID:20016210 |
RGD:6907441, RGD:6909147 |
NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
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|
G |
Csf1 |
colony stimulating factor 1 |
treatment |
IDA |
associated with Hypercholesterolemia and Diabetes Mellitus, Experimental |
RGD |
PMID:8573750 |
RGD:7257591 |
NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
|
|
G |
Cst3 |
cystatin C |
|
ISO |
associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human) |
RGD |
PMID:19596469 |
RGD:2314309 |
NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
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|
G |
Ctsb |
cathepsin B |
|
IDA |
associated with Hypertension |
RGD |
PMID:19023196 |
RGD:2315726 |
NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
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|
G |
Ctsl |
cathepsin L |
|
IDA |
associated with Hypertension |
RGD |
PMID:19023196 |
RGD:2315726 |
NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548
|
|
G |
Cyp11b2 |
cytochrome P450, family 11, subfamily b, polypeptide 2 |
|
IMP |
|
RGD |
PMID:15939810 |
RGD:2307307 |
NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
|
|
G |
Drd1 |
dopamine receptor D1 |
|
ISO |
DNA:polymorphism:5' utr:g.-94G>A rs5326 (human) |
RGD |
PMID:17353515 |
RGD:7248452 |
NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002
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|
G |
Edn1 |
endothelin 1 |
|
IEP |
protein:increased expression:renal papilla (rat) |
RGD |
PMID:20666571 |
RGD:4144838 |
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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|
G |
Epo |
erythropoietin |
|
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:urine,serum |
RGD |
PMID:16921186 |
RGD:2313841 |
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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G |
F7 |
coagulation factor VII |
no_association severity |
ISO |
associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human) associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) |
RGD |
PMID:8458188 PMID:8250495 PMID:9187410 |
RGD:2312410, RGD:2312407, RGD:2312406 |
NCBI chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
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G |
Fbn1 |
fibrillin 1 |
|
ISO |
associated with Hypertension |
RGD |
PMID:16380460 |
RGD:7365080 |
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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G |
Ggt1 |
gamma-glutamyltransferase 1 |
|
ISO |
associated with Diabetes Mellitus; protein:increased activity:serum |
RGD |
PMID:15890893 |
RGD:2315606 |
NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442
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G |
Gnaq |
G protein subunit alpha q |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16267159 |
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NCBI chr 1:213,425,631...213,671,947
Ensembl chr 1:213,424,465...213,667,672
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G |
Gpc5 |
glypican 5 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:21441931 |
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NCBI chr15:92,207,275...93,644,054
Ensembl chr15:92,239,176...93,643,282
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G |
Havcr1 |
hepatitis A virus cellular receptor 1 |
|
ISO |
associated with Anemia, Sickle Cell;protein:increased expression:urine: |
RGD |
PMID:21630304 |
RGD:7245982 |
NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
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G |
Igf1 |
insulin-like growth factor 1 |
susceptibility |
ISO |
|
RGD |
PMID:16645019 |
RGD:1598420 |
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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G |
Il1b |
interleukin 1 beta |
|
ISO |
|
RGD |
PMID:23103566 |
RGD:7175089 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il6 |
interleukin 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17167242 |
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NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Ins2 |
insulin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9861226 PMID:29420703 |
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NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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G |
Lepr |
leptin receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17065336 PMID:20175764 PMID:23159718 PMID:28130181 PMID:29988851 |
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NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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G |
Lipc |
lipase C, hepatic type |
|
ISO |
associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma (human) |
RGD |
PMID:8666151 |
RGD:2308836 |
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
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G |
Lrp2 |
LDL receptor related protein 2 |
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IDA |
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RGD |
PMID:12121845 |
RGD:1641839 |
NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
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G |
Mir130a |
microRNA 130a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24223694 |
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NCBI chr 3:69,822,542...69,822,629
Ensembl chr 3:69,822,542...69,822,629
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G |
Mir145 |
microRNA 145 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24223694 |
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NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
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G |
Mir155 |
microRNA 155 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24223694 |
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NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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G |
Mir322 |
microRNA 322 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24223694 |
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NCBI chr X:132,806,594...132,806,688
Ensembl chr X:132,806,594...132,806,688
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G |
Mmp9 |
matrix metallopeptidase 9 |
onset |
ISO |
associated with Diabetes Mellitus, Type 2; protein:increased expression:plasma (human) |
RGD |
PMID:9774113 |
RGD:7207214 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Mthfr |
methylenetetrahydrofolate reductase |
susceptibility |
ISO |
associated with Diabetes Mellitus, Type 2; DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) |
RGD |
PMID:22554825 |
RGD:6893631 |
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Myh9 |
myosin, heavy chain 9 |
|
ISO |
associated with hypertension;DNA:SNPs: : |
RGD |
PMID:19153477 |
RGD:6903241 |
NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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G |
Nck1 |
NCK adaptor protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19443634 |
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NCBI chr 8:101,018,610...101,079,237
Ensembl chr 8:101,018,702...101,079,300
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G |
Nck2 |
NCK adaptor protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19443634 |
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NCBI chr 9:45,713,979...45,840,330
Ensembl chr 9:45,714,883...45,840,307
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G |
Nphs2 |
NPHS2 stomatin family member, podocin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15684566 |
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NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313
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G |
Nr4a1 |
nuclear receptor subfamily 4, group A, member 1 |
|
IMP |
compared to FHH |
RGD |
PMID:24722447 |
RGD:12910103 |
NCBI chr 7:132,368,399...132,389,300
Ensembl chr 7:132,374,840...132,389,297
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G |
Nr4a1m1Mcwi |
nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin |
|
IMP |
compared to FHH |
RGD |
PMID:24722447 |
RGD:12910103 |
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G |
Pdpn |
podoplanin |
|
IEP |
|
RGD |
PMID:18199599 |
RGD:2292240 |
NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656
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G |
Pon1 |
paraoxonase 1 |
|
ISO |
DNA:polymorphisms:promoter, cds (human) |
RGD |
PMID:16949520 |
RGD:2313272 |
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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G |
Ppargc1a |
PPARG coactivator 1 alpha |
|
ISO |
associated with Diabetes Mellitus, Type 2; DNA:snp:cds:g.75919G>A rs8192678 (human) |
RGD |
PMID:22684233 |
RGD:7242025 |
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17890881 |
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NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
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G |
Pth |
parathyroid hormone |
|
ISO |
associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human) |
RGD |
PMID:23066118 |
RGD:7242730 |
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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G |
Pycard |
PYD and CARD domain containing |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22647887 |
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NCBI chr 1:182,601,657...182,603,013
Ensembl chr 1:182,601,174...182,602,955
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G |
Rab38 |
RAB38, member RAS oncogene family |
|
IAGP |
compared to FHH-Tg(CAG-Rab38)1Mcwi, FHH.BN-(D1Hmgc14-D1Hmgc15)/Mcwi |
RGD |
PMID:15758045 PMID:23291471 |
RGD:1357409, RGD:13782139 |
NCBI chr 1:142,182,566...142,262,923
Ensembl chr 1:142,182,556...142,262,924
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G |
Rab38em1Mcwi |
RAB38, member RAS oncogene family; zinc finger nuclease induced mutant 1, Medical College of Wisconsin |
|
IAGP |
compared to FHH-Tg(CAG-Rab38)1Mcwi, FHH.BN-(D1Hmgc14-D1Hmgc15)/Mcwi |
RGD |
PMID:23291471 |
RGD:13782139 |
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G |
Rag1 |
recombination activating 1 |
|
IMP |
|
RGD |
PMID:23364523 |
RGD:7207429 |
NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
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G |
Rag1em1Mcwi |
recombination activating gene 1; zinc finger nuclease induced mutant 1, Medical College of Wisconsin |
|
IMP |
as compare to o.4% NaCl diet |
RGD |
PMID:23364523 |
RGD:7207429 |
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G |
Rag1em2Mcwi |
recombination activating gene 1; zinc finger nuclease induced mutant 2, Medical College of Wisconsin |
|
IMP |
|
RGD |
PMID:23364523 |
RGD:7207429 |
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G |
Ren |
renin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12414515 PMID:18679781 |
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NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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G |
Retn |
resistin |
|
ISO |
associated with Hypertension;protein:increased expression:blood |
RGD |
PMID:20203628 |
RGD:7207150 |
NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620
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G |
Serpine1 |
serpin family E member 1 |
|
ISO |
associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human) |
RGD |
PMID:9201602 |
RGD:8547710 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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G |
Serpinf1 |
serpin family F member 1 |
treatment |
ISO |
associated with Diabetes Mellitus, Experimental; human gene in a rat model |
RGD |
PMID:16731830 |
RGD:8554875 |
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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G |
Sh2b3 |
SH2B adaptor protein 3 |
|
IMP |
|
RGD |
PMID:25776069 |
RGD:13442483 |
NCBI chr12:34,749,849...34,753,616
Ensembl chr12:34,731,911...34,753,616
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G |
Sh2b3em1Mcwi |
SH2B adaptor protein 3; zinc finger nuclease induced mutant 1, Medical College of Wisconsin |
|
IMP |
|
RGD |
PMID:25776069 |
RGD:13442483 |
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G |
Shc1 |
SHC adaptor protein 1 |
ameliorates |
IMP |
|
RGD |
PMID:27270176 |
RGD:12792230 |
NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536
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G |
Shc1em4Mcwi |
SHC adaptor protein 1; ZFN induced mutant 4, Medical College of Wisconsin |
ameliorates |
IMP |
|
RGD |
PMID:27270176 |
RGD:12792230 |
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G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17942768 |
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NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Spp1 |
secreted phosphoprotein 1 |
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IEP |
|
RGD |
PMID:18443355 |
RGD:6903862 |
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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G |
Tmem63c |
transmembrane protein 63c |
|
IEP |
mRNA:increased expression:kidney,renal glomerulus (rat) |
RGD |
PMID:30900988 |
RGD:15023481 |
NCBI chr 6:106,667,389...106,738,778
Ensembl chr 6:106,672,934...106,736,990
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G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17167242 |
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NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Trpc3 |
transient receptor potential cation channel, subfamily C, member 3 |
|
IEP |
associated with Hypertension;mRNA, protein:increased expression:kidney cortex |
RGD |
PMID:19887786 |
RGD:7247603 |
NCBI chr 2:119,481,313...119,619,333
Ensembl chr 2:119,481,400...119,558,855
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G |
Trpc5 |
transient receptor potential cation channel, subfamily C, member 5 |
|
ISO |
|
RGD |
PMID:24231357 |
RGD:10043830 |
NCBI chr X:107,946,163...108,230,978
Ensembl chr X:107,939,131...108,230,991
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G |
Trpc6 |
transient receptor potential cation channel, subfamily C, member 6 |
|
ISO IEP |
associated with Hypertension;mRNA:decreased expression:kidney cortex |
RGD |
PMID:21839714 PMID:19887786 |
RGD:7247445, RGD:7247603 |
NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
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G |
Tslp |
thymic stromal lymphopoietin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17686814 |
|
NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
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G |
Vcam1 |
vascular cell adhesion molecule 1 |
|
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma |
RGD |
PMID:18299691 |
RGD:2312766 |
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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G |
Cldn14 |
claudin 14 |
|
ISO |
ClinVar Annotator: match by term: Alport syndrome |
ClinVar |
PMID:30311386 |
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NCBI chr11:33,232,281...33,329,440
Ensembl chr11:33,232,220...33,329,171
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G |
Col4a3 |
collagen type IV alpha 3 chain |
susceptibility |
ISO |
DNA:deletion, nonsense mutations ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:1400291 PMID:7780062 PMID:7987301 PMID:7987396 PMID:8956999 PMID:9195222 PMID:9269635 PMID:11044206 PMID:11134255 PMID:11961012 PMID:12028435 PMID:12631109 PMID:14582039 PMID:14871398 PMID:15880327 PMID:15954103 PMID:16199547 PMID:17216251 PMID:18385178 PMID:18436078 PMID:19525337 PMID:20847057 PMID:21157337 PMID:21862460 PMID:21897443 PMID:22887978 PMID:23325022 PMID:23927549 PMID:23967202 PMID:24033266 PMID:24052634 PMID:24130771 PMID:24633401 PMID:24854265 PMID:24944784 PMID:25229338 PMID:25307543 PMID:25407002 PMID:25450602 PMID:25514610 PMID:25575550 PMID:25596306 PMID:25741868 PMID:25888712 PMID:26277931 PMID:26346198 PMID:26467025 PMID:26795916 PMID:26809805 PMID:26934356 PMID:27281700 PMID:27391953 PMID:27485810 PMID:27627812 PMID:27859054 PMID:27932480 PMID:28117080 PMID:28492532 PMID:28542346 PMID:28570636 PMID:28632965 PMID:28658201 PMID:28780565 PMID:29098738 PMID:29127259 PMID:29204651 PMID:29270492 PMID:29271581 PMID:29854973 PMID:29924831 PMID:29946535 PMID:30245029 PMID:30295827 PMID:30311386 PMID:30406062 PMID:30476138 PMID:30487145 PMID:30661074 PMID:30773290 PMID:30819905 PMID:30881523 PMID:30883042 PMID:31027891 PMID:31256874 PMID:31477057 PMID:31865346 PMID:32860008 PMID:33369211 PMID:33532864 PMID:7987301 More...
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RGD:1600924 |
NCBI chr 9:83,875,958...84,004,955
Ensembl chr 9:83,875,561...84,001,895
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G |
Col4a4 |
collagen type IV alpha 4 chain |
|
ISO |
ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria | ClinVar Annotator: match by term: Disease of glomerular basement membrane |
ClinVar |
PMID:1721625 PMID:9536098 PMID:9792860 PMID:11134255 PMID:11685592 PMID:11961012 PMID:12028435 PMID:12325029 PMID:12631110 PMID:14582039 PMID:14871398 PMID:15618242 PMID:15880327 PMID:16199547 PMID:17216251 PMID:17396119 PMID:17576681 PMID:19129241 PMID:19675380 PMID:20029656 PMID:21196518 PMID:22887978 PMID:23349334 PMID:23967202 PMID:24033266 PMID:24033287 PMID:24052634 PMID:24130771 PMID:24472419 PMID:24522496 PMID:24854265 PMID:25229338 PMID:25307543 PMID:25381091 PMID:25514610 PMID:25525159 PMID:25575550 PMID:25741868 PMID:25755845 PMID:26467025 PMID:26809805 PMID:26934356 PMID:27281700 PMID:27365461 PMID:27884173 PMID:28059119 PMID:28492532 PMID:28632965 PMID:28780565 PMID:28844315 PMID:28968992 PMID:29098738 PMID:29496980 PMID:29742505 PMID:29924831 PMID:30406062 PMID:30647093 PMID:30745910 PMID:31049720 PMID:31408864 PMID:31922066 PMID:33048202 PMID:33532864 PMID:33838161 More...
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NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
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G |
Col4a5 |
collagen type IV alpha 5 chain |
|
ISO |
Alport Syndrome, OMIM:301050, DNA:deletion:exons ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria | ClinVar Annotator: match by term: Disease of glomerular basement membrane |
ClinVar RGD |
PMID:2349482 PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651292 PMID:8651296 PMID:8940267 PMID:9195222 PMID:9848783 PMID:10563487 PMID:10752524 PMID:11223851 PMID:14514738 PMID:15044104 PMID:15780079 PMID:15954103 PMID:17396119 PMID:18083113 PMID:19344236 PMID:19728970 PMID:19919694 PMID:19965530 PMID:20378821 PMID:21332469 PMID:23572034 PMID:23720012 PMID:24130771 PMID:24304881 PMID:24470729 PMID:24854265 PMID:25525159 PMID:25741868 PMID:26467025 PMID:26809805 PMID:26934356 PMID:27627812 PMID:28492532 PMID:28542346 PMID:28844315 PMID:29127259 PMID:29142990 PMID:29526710 PMID:29854973 PMID:30577881 PMID:30655312 PMID:30691124 PMID:30773290 PMID:31850286 PMID:31922066 PMID:32405592 PMID:33532864 PMID:34008892 PMID:2349482 More...
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RGD:1600687 |
NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692
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G |
Il1b |
interleukin 1 beta |
|
ISO |
|
RGD |
PMID:22937108 |
RGD:7175090 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Mmp12 |
matrix metallopeptidase 12 |
|
ISO |
|
RGD |
PMID:16816359 |
RGD:7241212 |
NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
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G |
Mmp3 |
matrix metallopeptidase 3 |
|
ISO |
protein:increased expression:kidney |
RGD |
PMID:16509766 |
RGD:7241252 |
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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G |
Myh9 |
myosin, heavy chain 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10973259 |
|
NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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G |
Myo15a |
myosin XVA |
|
ISO |
ClinVar Annotator: match by term: Alport syndrome |
ClinVar |
PMID:30311386 |
|
NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility |
ISO |
DNA:polymorphism: :HLA-DRB1*16 (human) |
RGD |
PMID:15182324 |
RGD:7365078 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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G |
Fam20a |
FAM20A, golgi associated secretory pathway pseudokinase |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G |
OMIM ClinVar |
PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 PMID:28492532 More...
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NCBI chr10:94,638,836...94,697,814
Ensembl chr10:94,642,850...94,697,672
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G |
Prkar1a |
protein kinase cAMP-dependent type I regulatory subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G |
ClinVar |
PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 PMID:28492532 More...
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NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
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G |
Col4a6 |
collagen type IV alpha 6 chain |
|
ISO |
|
OMIM |
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NCBI chr X:104,766,463...105,117,499
Ensembl chr X:104,766,957...105,117,500
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G |
Agt |
angiotensinogen |
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IEP |
protein:increased expression:kidney, urine mRNA, protein:increased expression:liver, plasma |
RGD |
PMID:21282555 PMID:7550093 |
RGD:5129185, RGD:11039051 |
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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G |
Agtr1a |
angiotensin II receptor, type 1a |
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IEP |
protein:increased expression:kidney |
RGD |
PMID:21282555 |
RGD:5129185 |
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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G |
Bax |
BCL2 associated X, apoptosis regulator |
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IEP |
mRNA, protein:increased expression:kidney |
RGD |
PMID:12234300 |
RGD:1579984 |
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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G |
Bcl2 |
BCL2, apoptosis regulator |
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IEP |
mRNA, protein:decreased expression:kidney |
RGD |
PMID:12234300 |
RGD:1579984 |
NCBI chr13:22,689,783...22,853,920
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G |
Ccl17 |
C-C motif chemokine ligand 17 |
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IEP |
mRNA:increased expression:glomerulus |
RGD |
PMID:20071465 |
RGD:4145614 |
NCBI chr19:10,202,317...10,203,768
Ensembl chr19:10,202,128...10,203,819
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
treatment |
IEP IDA |
mRNA:increased expression:glomerulus |
RGD |
PMID:17898087 PMID:20071465 PMID:21894146 |
RGD:2307059, RGD:4145614, RGD:6218988 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Ccl22 |
C-C motif chemokine ligand 22 |
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IMP |
mRNA, protein:increased expression:glomerulus |
RGD |
PMID:12651599 |
RGD:2306306 |
NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
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G |
Ccl4 |
C-C motif chemokine ligand 4 |
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IEP |
mRNA:increased expression:glomerulus |
RGD |
PMID:17898087 |
RGD:2307059 |
NCBI chr10:68,466,469...68,467,941
Ensembl chr10:68,452,052...68,468,231
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G |
Ccl5 |
C-C motif chemokine ligand 5 |
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IEP |
mRNA:increased expression:glomerulus |
RGD |
PMID:17898087 |
RGD:2307059 |
NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
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G |
Cd274 |
CD274 molecule |
treatment |
ISO |
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RGD |
PMID:21965585 |
RGD:7248671 |
NCBI chr 1:227,116,627...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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G |
Cd40 |
CD40 molecule |
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ISO |
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RGD |
PMID:15210767 |
RGD:7248442 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Cd40lg |
CD40 ligand |
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IMP |
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RGD |
PMID:15458437 |
RGD:5508170 |
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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G |
Cd80 |
Cd80 molecule |
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IMP |
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RGD |
PMID:10712436 |
RGD:6902936 |
NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
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G |
Cfb |
complement factor B |
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ISO |
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RGD |
PMID:22492944 |
RGD:7242700 |
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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G |
Clu |
clusterin |
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IEP |
protein:increased expression:urine |
RGD |
PMID:23791361 |
RGD:9068422 |
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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G |
Csf1 |
colony stimulating factor 1 |
treatment |
IDA |
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RGD |
PMID:19242505 |
RGD:7257569 |
NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
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G |
Csf1r |
colony stimulating factor 1 receptor |
treatment ameliorates |
IDA IMP |
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RGD |
PMID:19242505 PMID:21519331 |
RGD:7257569, RGD:151665824 |
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
treatment |
ISO |
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RGD |
PMID:10712436 PMID:8206086 PMID:10712436 |
RGD:6902936, RGD:11352257, RGD:6902936 |
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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G |
Cx3cl1 |
C-X3-C motif chemokine ligand 1 |
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IEP |
mRNA, protein:increased expression:glomerulus |
RGD |
PMID:19590241 |
RGD:4891946 |
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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G |
Cx3cr1 |
C-X3-C motif chemokine receptor 1 |
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IEP |
mRNA, protein:increased expression:glomerulus |
RGD |
PMID:19590241 |
RGD:4891946 |
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
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G |
Cxcl12 |
C-X-C motif chemokine ligand 12 |
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IEP |
mRNA:increased expression:glomerulus |
RGD |
PMID:17557270 |
RGD:2306579 |
NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168
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G |
Dusp1 |
dual specificity phosphatase 1 |
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IEP |
mRNA:increased expression:glomerulus |
RGD |
PMID:8587253 |
RGD:633769 |
NCBI chr10:16,680,489...16,683,276
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G |
Fcgr3a |
Fc gamma receptor 3A |
no_association |
ISO |
DNA:cnv: : DNA:polymorphism:exon:(rs396991)(human) |
RGD |
PMID:19946017 PMID:19640933 |
RGD:5508400, RGD:5508403 |
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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G |
Gp6 |
glycoprotein VI |
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ISO |
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RGD |
PMID:20651232 |
RGD:7242710 |
NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326
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G |
Il10 |
interleukin 10 |
treatment |
IDA |
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RGD |
PMID:23826305 |
RGD:7365004 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il17a |
interleukin 17A |
treatment |
IDA |
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RGD |
PMID:23826305 |
RGD:7365004 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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G |
Il18 |
interleukin 18 |
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ISO |
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RGD |
PMID:22046355 |
RGD:6893447 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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G |
Il1b |
interleukin 1 beta |
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ISO IEP |
mRNA:increased expression:kidney (mouse) mRNA, protein:increased expression:kidney |
RGD |
PMID:22046355 PMID:9198037 |
RGD:6893447, RGD:7401232 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il1rn |
interleukin 1 receptor antagonist |
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IDA |
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RGD |
PMID:20071465 |
RGD:4145614 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Il4 |
interleukin 4 |
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IMP IDA |
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RGD |
PMID:9350645 PMID:17898087 |
RGD:2317673, RGD:2307059 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Itga4 |
integrin subunit alpha 4 |
treatment |
IDA IMP |
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RGD |
PMID:9032136 PMID:7679412 |
RGD:2308810, RGD:9698425 |
NCBI chr 3:64,162,764...64,235,010
Ensembl chr 3:64,163,085...64,233,715
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G |
Mapk14 |
mitogen activated protein kinase 14 |
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IEP |
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RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589
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G |
Mapk8 |
mitogen-activated protein kinase 8 |
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IEP |
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RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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G |
Mif |
macrophage migration inhibitory factor |
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IDA |
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RGD |
PMID:10780884 |
RGD:1642011 |
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
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G |
Mmp12 |
matrix metallopeptidase 12 |
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IEP |
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RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
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G |
Mmp14 |
matrix metallopeptidase 14 |
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IEP |
mRNA:increased expression:kidney, macrophage |
RGD |
PMID:10878552 |
RGD:2314954 |
NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
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G |
Nos2 |
nitric oxide synthase 2 |
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IEP |
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RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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G |
Nppb |
natriuretic peptide B |
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ISO |
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RGD |
PMID:11729234 |
RGD:7248605 |
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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G |
Pdcd1 |
programmed cell death 1 |
treatment |
IEP |
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RGD |
PMID:21965585 |
RGD:7248671 |
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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G |
Ppara |
peroxisome proliferator activated receptor alpha |
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ISO |
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RGD |
PMID:17888025 |
RGD:5563035 |
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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G |
Ptk2b |
protein tyrosine kinase 2 beta |
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IEP |
protein:increased expression:glomerulus |
RGD |
PMID:11774117 |
RGD:729912 |
NCBI chr15:40,360,722...40,481,235
Ensembl chr15:40,360,723...40,481,282
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G |
Rapgef1 |
Rap guanine nucleotide exchange factor 1 |
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IEP |
protein:increased expression:renal glomerulus |
RGD |
PMID:18784646 |
RGD:11534983 |
NCBI chr 3:12,898,349...13,016,234
Ensembl chr 3:12,898,266...13,013,984
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility |
ISO |
DNA:polymorphism (human) |
RGD |
PMID:21569485 |
RGD:5147561 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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G |
Selp |
selectin P |
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IDA |
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RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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G |
Slc34a1 |
solute carrier family 34 member 1 |
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ISO |
protein:decreased expression:kidney, brush border membrane (mouse) |
RGD |
PMID:19193726 |
RGD:7242947 |
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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G |
Slit2 |
slit guidance ligand 2 |
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IEP |
mRNA:decreased expression:kidney, glomerulus |
RGD |
PMID:15215188 |
RGD:2316132 |
NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948
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G |
Spp1 |
secreted phosphoprotein 1 |
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ISO |
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RGD |
PMID:20504883 |
RGD:6903276 |
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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G |
Syk |
spleen associated tyrosine kinase |
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IMP |
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RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr17:12,604,615...12,678,437
Ensembl chr17:12,604,619...12,661,410
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G |
Tnf |
tumor necrosis factor |
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IEP |
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RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Vcam1 |
vascular cell adhesion molecule 1 |
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ISO |
protein:increased expression:urine, serum: |
RGD |
PMID:23460853 |
RGD:7241232 |
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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G |
Xcl1 |
X-C motif chemokine ligand 1 |
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IEP |
mRNA:increased expression:glomerulus |
RGD |
PMID:9717977 |
RGD:8693304 |
NCBI chr13:77,248,865...77,252,308
Ensembl chr13:77,248,717...77,252,329
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G |
Agt |
angiotensinogen |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:8527259 |
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NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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G |
Alb |
albumin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6734075 |
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NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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G |
Plau |
plasminogen activator, urokinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8225663 |
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NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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G |
Prkab1 |
protein kinase AMP-activated non-catalytic subunit beta 1 |
treatment |
ISO |
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RGD |
PMID:27782167 |
RGD:39128183 |
NCBI chr12:40,588,140...40,598,673
Ensembl chr12:40,588,211...40,598,661
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G |
Vipas39 |
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20190753 |
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NCBI chr 6:106,888,284...106,913,139
Ensembl chr 6:106,888,284...106,913,117
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G |
Vps33b |
VPS33B, late endosome and lysosome associated |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arthrogryposis with renal dysfunction and cholestasis syndrome |
CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
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G |
Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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G |
Vipas39 |
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 |
ClinVar |
PMID:25741868 PMID:31319225 |
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NCBI chr 6:106,888,284...106,913,139
Ensembl chr 6:106,888,284...106,913,117
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G |
Vps33b |
VPS33B, late endosome and lysosome associated |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 |
OMIM ClinVar |
PMID:8151641 PMID:11668108 PMID:15052268 PMID:16896922 PMID:17994566 PMID:18853461 PMID:19274792 PMID:21851503 PMID:22753090 PMID:24782640 PMID:24917129 PMID:25741868 PMID:26505894 PMID:28492532 PMID:31479177 More...
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NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
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G |
Vipas39 |
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 2 |
OMIM ClinVar |
PMID:20190753 PMID:25741868 PMID:28492532 |
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NCBI chr 6:106,888,284...106,913,139
Ensembl chr 6:106,888,284...106,913,117
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G |
Adamts13 |
ADAM metallopeptidase with thrombospondin type 1 motif, 13 |
|
ISO |
protein:decreased activity:serum (human) ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome |
ClinVar RGD |
PMID:12753286 PMID:17187257 PMID:17627784 PMID:23715102 PMID:25741868 PMID:28492532 PMID:28748566 PMID:28866379 PMID:30046676 PMID:32183147 PMID:12640381 More...
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RGD:10449096 |
NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
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G |
Baat |
bile acid CoA:amino acid N-acyltransferase |
|
ISO |
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 |
ClinVar |
|
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NCBI chr 5:63,851,668...63,860,641
Ensembl chr 5:63,850,705...63,860,685
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G |
C2 |
complement C2 |
|
ISO |
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome |
ClinVar |
PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 PMID:18806293 PMID:20108004 PMID:20513133 PMID:21541267 PMID:22440158 PMID:24033266 PMID:24652797 PMID:25741868 PMID:28492532 More...
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NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505
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G |
C3 |
complement C3 |
susceptibility |
ISO |
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome CTD Direct Evidence: marker/mechanism DNA:missense mutations: :p.F603V, p.R1042L, p.I1157T (human) |
ClinVar CTD OMIM RGD |
PMID:1976733 PMID:14639503 PMID:17634448 PMID:18325906 PMID:18796626 PMID:19168221 PMID:19590060 PMID:20301541 PMID:20595690 PMID:21125405 PMID:23307876 PMID:23314101 PMID:23431077 PMID:24036949 PMID:24036950 PMID:24036952 PMID:24736606 PMID:24845532 PMID:25188723 PMID:25608561 PMID:25741868 PMID:25951460 PMID:26283675 PMID:26613027 PMID:28492532 PMID:28596415 PMID:29566171 PMID:29888403 PMID:30046676 PMID:30131807 PMID:30773290 PMID:32950058 PMID:33213850 PMID:17517971 PMID:20513133 More...
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RGD:7364995, RGD:11040768 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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G |
C3ar1 |
complement C3a receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 |
ClinVar |
|
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NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701
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G |
Cd46 |
CD46 molecule |
severity susceptibility |
ISO |
DNA:mutations:cds:multiple (human) ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 CTD Direct Evidence: marker/mechanism protein:increased expression:peripheral blood mononuclear cell (human) DNA:snp:intron:c.IVS8+23T>G (rs2724374) (human) DNA:missense mutations:cds:p.R69W, p.A304V (human) |
ClinVar OMIM CTD RGD |
PMID:270646 PMID:3480783 PMID:9551389 PMID:10528197 PMID:14566051 PMID:14615110 PMID:16621965 PMID:16762990 PMID:16882452 PMID:17089378 PMID:20059470 PMID:20513133 PMID:21706448 PMID:23431077 PMID:23731345 PMID:23780777 PMID:24033266 PMID:24161037 PMID:24247905 PMID:24944786 PMID:25381125 PMID:25525159 PMID:25741868 PMID:25899302 PMID:25951460 PMID:26054645 PMID:26307634 PMID:26559391 PMID:27399110 PMID:28056875 PMID:28492532 PMID:28509134 PMID:29500241 PMID:29566171 PMID:30609409 PMID:33224962 PMID:34169201 PMID:20595690 PMID:16353080 PMID:20513133 PMID:17914026 More...
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RGD:11038684, RGD:11352810, RGD:11040768, RGD:11352768 |
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
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G |
Cfb |
complement factor B |
susceptibility |
ISO |
DNA, protein:mutations:cds: c.858C>G, F286L, c.967A>G, K323E (human) ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 CTD Direct Evidence: marker/mechanism DNA:nonsense mutations: :multiple |
ClinVar OMIM CTD RGD |
PMID:2249879 PMID:6308626 PMID:7452889 PMID:8181962 PMID:16518403 PMID:16936732 PMID:17182750 PMID:18806293 PMID:20108004 PMID:20513133 PMID:21541267 PMID:22440158 PMID:23847193 PMID:24033266 PMID:24652797 PMID:25741868 PMID:26054779 PMID:28492532 PMID:17182750 PMID:20513133 More...
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RGD:7242707, RGD:11040768 |
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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G |
Cfh |
complement factor H |
susceptibility |
ISO IMP |
DNA:missense mutation ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 CTD Direct Evidence: marker/mechanism DNA:nonsense mutations, missense mutations, splice-site mutation: :multiple DNA:deletion:Cds: DNA:SNPs,Haplotype:: |
ClinVar OMIM CTD RGD |
PMID:646435 PMID:8072530 PMID:9536098 PMID:9551389 PMID:9811382 PMID:9848786 PMID:10577907 PMID:10762557 PMID:11158219 PMID:11170895 PMID:11170896 PMID:11978762 PMID:12424708 PMID:12697737 PMID:14978182 PMID:15761120 PMID:15870199 PMID:16299065 PMID:16338962 PMID:16601698 PMID:16619239 PMID:17018561 PMID:17576681 PMID:17599974 PMID:17947292 PMID:18235085 PMID:18252712 PMID:18268093 PMID:18557729 PMID:19190809 PMID:19259132 PMID:19297022 PMID:19454698 PMID:19633317 PMID:20016463 PMID:20059470 PMID:20203157 PMID:20513133 PMID:21317894 PMID:21415311 PMID:21909106 PMID:22019782 PMID:22171659 PMID:22223606 PMID:22389686 PMID:22403278 PMID:22410797 PMID:22456601 PMID:23431077 PMID:23852337 PMID:24036949 PMID:24498017 PMID:25037630 PMID:25741868 PMID:25814826 PMID:25880396 PMID:26559391 PMID:26826462 PMID:27718086 PMID:28492532 PMID:28941939 PMID:29410599 PMID:29500241 PMID:29888403 PMID:30560448 PMID:31447099 PMID:33519811 PMID:10577907 PMID:9811382 PMID:23243267 PMID:20513133 PMID:17517971 PMID:17517971 PMID:17517971 More...
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RGD:1599886, RGD:11041172, RGD:11041162, RGD:11040768, RGD:7364995, RGD:7364995, RGD:7364995 |
NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
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G |
Cfhr1 |
complement factor H-related 1 |
susceptibility |
ISO |
DNA:deletion ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 PMID:25741868 PMID:23243267 More...
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RGD:11041162 |
NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592
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G |
Cfi |
complement factor I |
susceptibility |
ISO |
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:9536098 PMID:15173250 PMID:16621965 PMID:17576681 PMID:18557729 PMID:18825487 PMID:19877009 PMID:20016463 PMID:20106822 PMID:20203157 PMID:20513133 PMID:20595690 PMID:22710145 PMID:23307876 PMID:23314101 PMID:23431077 PMID:23685748 PMID:23787556 PMID:24033266 PMID:24034049 PMID:24036952 PMID:24161037 PMID:25037630 PMID:25135378 PMID:25352734 PMID:25741868 PMID:25741909 PMID:25758434 PMID:25788521 PMID:26691988 PMID:26767664 PMID:27268256 PMID:28282489 PMID:28492532 PMID:29392637 PMID:29410599 PMID:29500241 PMID:29888403 PMID:31049720 PMID:31249236 PMID:32510551 PMID:15173250 More...
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RGD:6906889 |
NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561
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G |
Col4a5 |
collagen type IV alpha 5 chain |
|
ISO |
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome |
ClinVar |
PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651296 PMID:8940267 PMID:9848783 PMID:19344236 PMID:23720012 PMID:25741868 PMID:27627812 PMID:28492532 PMID:30577881 PMID:30773290 More...
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NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692
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G |
Dgke |
diacylglycerol kinase epsilon |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7 |
CTD ClinVar |
PMID:23542698 PMID:24511134 PMID:24747643 PMID:25741868 PMID:28492532 PMID:29590070 More...
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NCBI chr10:73,852,679...73,877,334
Ensembl chr10:73,855,583...73,877,100
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G |
Mmachc |
metabolism of cobalamin associated C |
|
ISO |
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome |
ClinVar |
PMID:16311595 PMID:16714133 PMID:17768669 PMID:17853453 PMID:18164228 PMID:19370762 PMID:19760748 PMID:20549364 PMID:20610126 PMID:20631720 PMID:23757202 PMID:23837176 PMID:24033266 PMID:24126030 PMID:24599607 PMID:25687216 PMID:25741868 PMID:25894566 PMID:28492532 PMID:29396438 More...
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NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601
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G |
Plg |
plasminogen |
|
ISO |
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome |
ClinVar |
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NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786
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G |
Smarcal1 |
Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 |
|
ISO |
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome |
ClinVar |
PMID:28492532 PMID:28844315 |
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NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146
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G |
Thbd |
thrombomodulin |
severity susceptibility no_association |
ISO |
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome CTD Direct Evidence: marker/mechanism DNA:SNPs:5' utr, 3' utr:multiple DNA:missense mutations:CDS:multiple |
ClinVar OMIM CTD RGD |
PMID:7811989 PMID:9157575 PMID:9236408 PMID:10460600 PMID:11245641 PMID:11986219 PMID:12139752 PMID:15574195 PMID:17677000 PMID:19625716 PMID:23332921 PMID:24933457 PMID:25135378 PMID:25741868 PMID:28492532 PMID:34355501 PMID:20595690 PMID:19625716 PMID:19625716 More...
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RGD:11038684, RGD:11038691, RGD:11038691 |
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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G |
Atrx |
ATRX, chromatin remodeler |
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ISO |
ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor |
ClinVar |
PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28293299 PMID:28492530 PMID:28492532 PMID:29304373 PMID:29602769 PMID:29910053 More...
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NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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G |
Derl3 |
derlin 3 |
|
ISO |
ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027
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G |
Smarcb1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
|
ISO |
ClinVar Annotator: match by term: Malignant rhabdoid tumor, somatic | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 | ClinVar Annotator: match by term: Teratoid tumor, atypical |
OMIM ClinVar |
PMID:9536098 PMID:9671307 PMID:9892189 PMID:10521299 PMID:10739763 PMID:12226744 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18647326 PMID:19124645 PMID:19912265 PMID:21108436 PMID:21208904 PMID:23510391 PMID:24123847 PMID:24525513 PMID:24728327 PMID:24933152 PMID:25741868 PMID:28492532 PMID:28873162 More...
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NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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G |
Tp53 |
tumor protein p53 |
|
ISO |
ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor |
ClinVar |
PMID:1565143 PMID:1591732 PMID:7565304 PMID:7783166 PMID:8550239 PMID:8718514 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9667734 PMID:10519380 PMID:10922393 PMID:11370630 PMID:12826609 PMID:12885464 PMID:12917626 PMID:15722483 PMID:15925506 PMID:15951970 PMID:16401470 PMID:16494995 PMID:16551709 PMID:17015838 PMID:17311302 PMID:17606709 PMID:18511570 PMID:20128691 PMID:20522432 PMID:21343334 PMID:21761402 PMID:23538418 PMID:24033266 PMID:24122735 PMID:24835218 PMID:25157968 PMID:25741868 PMID:26205489 PMID:26225655 PMID:26619011 PMID:26786923 PMID:27621308 PMID:28492532 PMID:30816478 PMID:32000721 More...
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Ackr1 |
atypical chemokine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
|
NCBI chr13:85,782,396...85,786,002
Ensembl chr13:85,782,398...85,783,983
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G |
Adamts4 |
ADAM metallopeptidase with thrombospondin type 1 motif, 4 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,670,556...83,680,045
Ensembl chr13:83,670,183...83,680,065
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G |
Aim2 |
absent in melanoma 2 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:85,865,206...85,906,996
Ensembl chr13:85,866,284...85,906,975
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G |
Apcs |
amyloid P component, serum |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:85,373,338...85,374,134
Ensembl chr13:85,373,220...85,374,298
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G |
Apoa2 |
apolipoprotein A2 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355
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G |
Arhgap30 |
Rho GTPase activating protein 30 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,822,290...83,843,634
Ensembl chr13:83,822,283...83,854,885
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G |
Atf6 |
activating transcription factor 6 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177
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G |
Atp1a2 |
ATPase Na+/K+ transporting subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
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G |
Atp1a4 |
ATPase Na+/K+ transporting subunit alpha 4 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,683,766...84,719,790
Ensembl chr13:84,683,768...84,719,687
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G |
B4galt3 |
beta-1,4-galactosyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,691,378...83,697,448
Ensembl chr13:83,691,446...83,697,448
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G |
Cadm3 |
cell adhesion molecule 3 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:85,786,482...85,817,412
Ensembl chr13:85,786,483...85,817,749
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G |
Casq1 |
calsequestrin 1 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,670,648...84,680,339
Ensembl chr13:84,670,649...84,680,339
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G |
Cd244 |
CD244 molecule |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,018,887...84,036,612
Ensembl chr13:84,020,095...84,036,100
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G |
Cd48 |
Cd48 molecule |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,184,884...84,209,144
Ensembl chr13:84,185,532...84,209,142
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G |
Cd84 |
CD84 molecule |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,327,580...84,367,153
Ensembl chr13:84,327,553...84,362,076
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G |
Cfap126 |
cilia and flagella associated protein 126 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,526,657...83,542,552
Ensembl chr13:83,526,657...83,542,552
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G |
Cfap45 |
cilia and flagella associated protein 45 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,989,474...85,012,880
Ensembl chr13:84,981,728...85,012,878
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G |
Copa |
COPI coat complex subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:25894502 PMID:27577878 PMID:28166811 PMID:28492532 PMID:29137621 PMID:31905480 More...
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NCBI chr13:84,546,483...84,586,879
Ensembl chr13:84,545,943...84,586,874
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G |
Crp |
C-reactive protein |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
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G |
Dcaf8 |
DDB1 and CUL4 associated factor 8 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,609,838...84,667,025
Ensembl chr13:84,610,248...84,669,726
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G |
Ddr2 |
discoidin domain receptor tyrosine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
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G |
Dedd |
death effector domain-containing |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,755,874...83,769,982
Ensembl chr13:83,756,108...83,769,332
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G |
Dusp12 |
dual specificity phosphatase 12 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,122,192...83,131,800
Ensembl chr13:83,122,193...83,131,285
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G |
Dusp23 |
dual specificity phosphatase 23 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:85,098,792...85,099,984
Ensembl chr13:85,097,899...85,100,093
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G |
F11r |
F11 receptor |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,873,797...83,897,388
Ensembl chr13:83,873,797...83,897,402
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G |
Fcer1a |
Fc epsilon receptor Ia |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:85,686,099...85,692,394
Ensembl chr13:85,686,092...85,692,351
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G |
Fcer1g |
Fc epsilon receptor Ig |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,649,447...83,654,215
Ensembl chr13:83,649,449...83,671,443
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G |
Fcgr2a |
Fc gamma receptor 2A |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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G |
Fcgr2b |
Fc gamma receptor 2B |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,191,253...83,207,776
Ensembl chr13:83,193,163...83,207,778
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G |
Fcgr3a |
Fc gamma receptor 3A |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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G |
Fcrl6 |
Fc receptor-like 6 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:85,062,709...85,072,308
Ensembl chr13:85,066,694...85,072,600
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G |
Fcrla |
Fc receptor-like A |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,160,453...83,170,170
Ensembl chr13:83,160,398...83,170,762
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G |
Fcrlb |
Fc receptor-like B |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,148,685...83,157,157
Ensembl chr13:83,149,751...83,155,957
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G |
Igsf8 |
immunoglobulin superfamily, member 8 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,770,348...84,781,534
Ensembl chr13:84,770,279...84,778,576
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G |
Igsf9 |
immunoglobulin superfamily, member 9 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,948,643...84,965,616
Ensembl chr13:84,948,619...84,965,607
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G |
Itln1 |
intelectin 1 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,932,234...83,958,243
Ensembl chr13:83,948,124...83,958,227
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G |
Kcnj10 |
potassium inwardly-rectifying channel, subfamily J, member 10 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
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G |
Kcnj9 |
potassium inwardly-rectifying channel, subfamily J, member 9 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,780,826...84,787,928
Ensembl chr13:84,779,741...84,787,928
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G |
Klhdc9 |
kelch domain containing 9 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,790,269...83,794,080
Ensembl chr13:83,790,269...83,793,354
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G |
LOC100361087 |
hypothetical LOC100361087 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:82,533,538...82,538,676
Ensembl chr13:82,530,577...82,820,949
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G |
LOC681470 |
similar to olfactory receptor 1403 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:85,723,330...85,724,262
Ensembl chr13:85,719,234...85,724,767
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G |
LOC686035 |
similar to heat shock 70kDa protein 6 (HSP70B) |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,271,340...83,275,267
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G |
Ly9 |
lymphocyte antigen 9 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,081,283...84,100,757
Ensembl chr13:84,079,458...84,100,823
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G |
Mnda |
myeloid cell nuclear differentiation antigen |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:86,017,888...86,035,556
Ensembl chr13:86,017,892...86,034,201
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G |
Mpz |
myelin protein zero |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
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G |
Ncstn |
nicastrin |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,530,442...84,546,454
Ensembl chr13:84,530,440...84,546,454
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G |
Ndufs2 |
NADH:ubiquinone oxidoreductase core subunit S2 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,654,402...83,671,474
Ensembl chr13:83,654,406...83,671,420
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G |
Nectin4 |
nectin cell adhesion molecule 4 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,802,589...83,821,711
Ensembl chr13:83,803,184...83,821,709
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G |
Nhlh1 |
nescient helix loop helix 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,517,347...84,522,548
Ensembl chr13:84,517,289...84,525,094
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G |
Nit1 |
nitrilase 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,769,888...83,773,324
Ensembl chr13:83,765,941...83,773,332
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G |
Nos1ap |
nitric oxide synthase 1 adaptor protein |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
|
NCBI chr13:82,549,786...82,820,949
Ensembl chr13:82,530,577...82,820,949
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G |
Nr1i3 |
nuclear receptor subfamily 1, group I, member 3 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,632,940...83,638,193
Ensembl chr13:83,632,899...83,637,906
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G |
Olfml2b |
olfactomedin-like 2B |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:82,869,414...82,906,607
Ensembl chr13:82,869,433...82,906,607
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G |
Olr1576 |
olfactory receptor 1576 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:85,430,655...85,431,584
Ensembl chr13:85,424,254...85,432,107
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G |
Olr1582 |
olfactory receptor 1582 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:85,667,254...85,668,195
Ensembl chr13:85,662,666...85,669,540
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G |
Olr1588 |
olfactory receptor 1588 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:86,076,857...86,087,100
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G |
Olr1589 |
olfactory receptor 1589 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:86,106,912...86,107,850
Ensembl chr13:86,102,080...86,108,363
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G |
Olr1592 |
olfactory receptor 1592 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
|
NCBI chr13:86,148,402...86,149,325
Ensembl chr13:86,147,303...86,152,153
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G |
Olr1593 |
olfactory receptor 1593 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
|
NCBI chr13:86,164,244...86,165,191
Ensembl chr13:86,160,158...86,166,214
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G |
Olr1596 |
olfactory receptor 1596 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
|
NCBI chr13:86,186,442...86,190,391
Ensembl chr13:86,185,529...86,190,815
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G |
Pcp4l1 |
Purkinje cell protein 4-like 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,588,992...83,612,631
Ensembl chr13:83,588,992...83,609,966
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G |
Pea15 |
proliferation and apoptosis adaptor protein 15 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,657,815...84,667,437
Ensembl chr13:84,654,870...84,667,499
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G |
Pex19 |
peroxisomal biogenesis factor 19 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,592,277...84,608,793
Ensembl chr13:84,592,312...84,608,608
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G |
Pfdn2 |
prefoldin subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,772,301...83,791,367
Ensembl chr13:83,753,877...83,790,504
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G |
Pigm |
phosphatidylinositol glycan anchor biosynthesis, class M |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,838,329...84,842,026
Ensembl chr13:84,838,175...84,843,381
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G |
Ppox |
protoporphyrinogen oxidase |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,697,661...83,701,998
Ensembl chr13:83,664,891...83,701,805
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G |
Sdhc |
succinate dehydrogenase complex subunit C |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253
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G |
Sh2d1b |
SH2 domain containing 1B |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:82,485,076...82,519,401
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G |
Slamf1 |
signaling lymphocytic activation molecule family member 1 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,270,316...84,305,497
Ensembl chr13:84,270,316...84,305,497
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G |
Slamf6 |
SLAM family member 6 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,384,561...84,405,300
Ensembl chr13:84,383,742...84,405,300
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G |
Slamf7 |
SLAM family member 7 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,135,656...84,154,528
Ensembl chr13:84,136,899...84,154,105
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G |
Slamf8 |
SLAM family member 8 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
|
NCBI chr13:85,047,729...85,057,571
Ensembl chr13:85,047,727...85,057,211
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G |
Slamf9 |
SLAM family member 9 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,941,896...84,944,749
Ensembl chr13:84,941,982...84,944,748
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G |
Spata46 |
spermatogenesis associated 46 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
|
NCBI chr13:82,541,183...82,544,808
Ensembl chr13:82,541,183...82,544,808
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G |
Spta1 |
spectrin, alpha, erythrocytic 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371
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G |
Tagln2 |
transgelin 2 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,966,980...84,973,973
Ensembl chr13:84,967,009...84,973,972
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G |
Tomm40l |
translocase of outer mitochondrial membrane 40 like |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,636,692...83,641,854
Ensembl chr13:83,638,195...83,641,654
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G |
Tstd1 |
thiosulfate sulfurtransferase like domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,853,421...83,854,875
Ensembl chr13:83,822,035...83,854,885
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G |
Uap1 |
UDP-N-acetylglucosamine pyrophosphorylase 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:82,342,946...82,377,558
Ensembl chr13:82,342,946...82,377,469
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G |
Ufc1 |
ubiquitin-fold modifier conjugating enzyme 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,709,330...83,719,762
Ensembl chr13:83,709,330...83,716,076
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G |
Uhmk1 |
U2AF homology motif kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:82,396,646...82,416,292
Ensembl chr13:82,401,187...82,416,292
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G |
Usf1 |
upstream transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,845,230...83,854,875
Ensembl chr13:83,822,035...83,854,885
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G |
Usp21 |
ubiquitin specific peptidase 21 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,702,582...83,709,215
Ensembl chr13:83,702,631...83,708,717
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G |
Vangl2 |
VANGL planar cell polarity protein 2 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,462,731...84,489,404
Ensembl chr13:84,465,527...84,489,378
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G |
Vsig8 |
V-set and immunoglobulin domain containing 8 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease |
ClinVar |
PMID:28492532 |
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NCBI chr13:85,023,177...85,031,364
Ensembl chr13:85,023,177...85,031,364
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G |
Col4a3 |
collagen type IV alpha 3 chain |
|
ISO |
ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar Annotator: match by term: Autosomal dominant Alport syndrome |
OMIM ClinVar |
PMID:1400291 PMID:7987301 PMID:7987396 PMID:8956999 PMID:9195222 PMID:9269635 PMID:9536098 PMID:11044206 PMID:11134255 PMID:11961012 PMID:12028435 PMID:14582039 PMID:14871398 PMID:15954103 PMID:16199547 PMID:17216251 PMID:17576681 PMID:20847057 PMID:21157337 PMID:21897443 PMID:22887978 PMID:23325022 PMID:23927549 PMID:23967202 PMID:24033266 PMID:24033287 PMID:24052634 PMID:24130771 PMID:24633401 PMID:24854265 PMID:25229338 PMID:25307543 PMID:25407002 PMID:25450602 PMID:25525159 PMID:25575550 PMID:25596306 PMID:25741868 PMID:26277931 PMID:26346198 PMID:26467025 PMID:26795916 PMID:26809805 PMID:26934356 PMID:27281700 PMID:27391953 PMID:27485810 PMID:27859054 PMID:27932480 PMID:28117080 PMID:28492532 PMID:28542346 PMID:28570636 PMID:28600779 PMID:28658201 PMID:28780565 PMID:28844315 PMID:29098738 PMID:29204651 PMID:29271581 PMID:29801666 PMID:29854973 PMID:29946535 PMID:30295827 PMID:30311386 PMID:30406062 PMID:30476138 PMID:30487145 PMID:30773290 PMID:30819905 PMID:30828794 PMID:31027891 PMID:31256874 PMID:31306228 PMID:31477057 PMID:31625567 PMID:31865346 PMID:32860008 PMID:33369211 PMID:33532864 PMID:33854215 PMID:34113375 PMID:34906502 More...
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NCBI chr 9:83,875,958...84,004,955
Ensembl chr 9:83,875,561...84,001,895
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G |
Col4a4 |
collagen type IV alpha 4 chain |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant Alport syndrome | ClinVar Annotator: match by term: Renal failure and sensorineural hearing loss |
ClinVar |
PMID:9536098 PMID:9792860 PMID:11961012 PMID:12631110 PMID:12748344 PMID:14582039 PMID:15618242 PMID:15954103 PMID:17576681 PMID:19129241 PMID:20301386 PMID:21196518 PMID:21897443 PMID:24033266 PMID:24052634 PMID:24522496 PMID:24633401 PMID:24854265 PMID:25307543 PMID:25525159 PMID:25596306 PMID:25741868 PMID:26467025 PMID:26809805 PMID:27281700 PMID:28492532 PMID:28632965 PMID:28844315 PMID:29801666 PMID:29854973 PMID:30745910 PMID:33369211 PMID:33532864 PMID:33772369 More...
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NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
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G |
Col4a5 |
collagen type IV alpha 5 chain |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant Alport syndrome |
ClinVar |
PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651296 PMID:8940267 PMID:9848783 PMID:19344236 PMID:23720012 PMID:25741868 PMID:27627812 PMID:28492532 PMID:30577881 PMID:30773290 More...
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NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692
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G |
Myh9 |
myosin, heavy chain 9 |
|
ISO |
DNA:missense mutation:exon:4270G>C,D1424H (human) |
RGD |
PMID:12500226 |
RGD:6902925 |
NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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G |
Casr |
calcium-sensing receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome |
CTD ClinVar |
PMID:11152759 PMID:12107202 PMID:12191970 PMID:12241879 PMID:15005845 PMID:17048213 PMID:25741868 More...
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NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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G |
Fgf23 |
fibroblast growth factor 23 |
|
ISO |
DNA:missense mutations:exon:p.R176Q (527G>A), p.R179W (535C>T), p.R179Q (536G>A) (human) ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant DNA:missense mutation:cds:526C>T,p.R176W (human) |
ClinVar OMIM RGD |
PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 PMID:11737582 PMID:11805436 PMID:12050201 PMID:12130585 PMID:12711740 PMID:12851820 PMID:12874285 PMID:15182416 PMID:15590700 PMID:15628294 PMID:15836777 PMID:15885032 PMID:16436388 PMID:17227222 PMID:17452648 PMID:17623664 PMID:17992255 PMID:18682534 PMID:18982401 PMID:21880793 PMID:22419710 PMID:24033266 PMID:25445451 PMID:25741868 PMID:26186302 PMID:26467025 PMID:28492532 PMID:31486862 PMID:32415663 PMID:11062477 PMID:19655082 More...
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RGD:1598933, RGD:10044239 |
NCBI chr 4:159,914,393...159,922,073
Ensembl chr 4:159,914,272...159,923,821
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G |
Phex |
phosphate regulating endopeptidase homolog, X-linked |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets |
ClinVar |
PMID:9199930 PMID:9768674 PMID:10439971 PMID:14564066 PMID:14564077 PMID:16055933 PMID:19219621 PMID:21902834 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32329911 More...
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NCBI chr X:37,607,553...37,856,183
Ensembl chr X:37,610,760...37,854,469
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G |
Abcg2 |
ATP binding cassette subfamily G member 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
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G |
Angpt2 |
angiopoietin 2 |
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IEP |
protein:increased expression:bile duct (rat) |
RGD |
PMID:16628643 |
RGD:2314213 |
NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
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G |
Anks6 |
ankyrin repeat and sterile alpha motif domain containing 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12089381 |
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NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596
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G |
Bicc1 |
BicC family RNA binding protein 1 |
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ISS |
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MouseDO |
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NCBI chr20:17,449,644...17,686,775
Ensembl chr20:17,449,560...17,686,776
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G |
Brd4 |
bromodomain containing 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25877301 |
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NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
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G |
Bricd5 |
BRICHOS domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chr10:13,498,726...13,500,259
Ensembl chr10:13,498,381...13,500,259
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G |
C9 |
complement C9 |
disease_progression |
ISO |
protein:increased expression:urine |
RGD |
PMID:24494798 |
RGD:8661641 |
NCBI chr 2:55,573,094...55,621,345
Ensembl chr 2:55,572,992...55,621,338
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G |
Caskin1 |
CASK interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chr10:13,512,684...13,533,380
Ensembl chr10:13,513,465...13,533,377
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G |
Cd14 |
CD14 molecule |
disease_progression |
ISO |
protein:altered localization:kidney,urine |
RGD |
PMID:20555320 |
RGD:7204130 |
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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G |
Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
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IEP |
protein:decreased expression:kidney |
RGD |
PMID:17714589 |
RGD:2289666 |
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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G |
Cfb |
complement factor B |
disease_progression |
ISO |
protein:increased expression:urine |
RGD |
PMID:24494798 |
RGD:8661641 |
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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G |
Dkk3 |
dickkopf WNT signaling pathway inhibitor 3 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
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NCBI chr 1:166,237,969...166,281,271
Ensembl chr 1:166,238,238...166,280,590
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G |
Dmp1 |
dentin matrix acidic phosphoprotein 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chr14:5,528,441...5,542,078
Ensembl chr14:5,528,431...5,539,323
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G |
Dnase1l2 |
deoxyribonuclease 1 like 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chr10:13,471,850...13,473,447
Ensembl chr10:13,471,479...13,473,763
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G |
Dspp |
dentin sialophosphoprotein |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
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G |
E4f1 |
E4F transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chr10 | |