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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Term: | hypertension |
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Accession: | DOID:10763
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browse the term
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Definition: | Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more. |
Synonyms: | exact_synonym: | HTN; High Blood Pressure; High Blood Pressures; hyperpiesia; vascular hypertensive disorder |
| related_synonym: | hypertensive disease; increased aldosterone to renin ratio |
| primary_id: | MESH:D006973 |
| xref: | ICD9CM:401-405.99; NCI:C3117 |
For additional species annotation, visit the
Alliance of Genome Resources.
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Abat |
4-aminobutyrate aminotransferase |
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IDA |
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RGD |
PMID:1570022 |
RGD:1598531 |
NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
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Abcc1 |
ATP binding cassette subfamily C member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17272743 |
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NCBI chr10:549,537...672,235
Ensembl chr10:549,883...672,196
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Abcc8 |
ATP binding cassette subfamily C member 8 |
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ISO |
associated with obesity;DNA:polymorphism:exon: |
RGD |
PMID:11030411 |
RGD:737749 |
NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
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Abcc9 |
ATP binding cassette subfamily C member 9 |
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IEP |
protein:decreased expression:aorta |
RGD |
PMID:15964031, PMID:18471810 |
RGD:1598644, RGD:2301909 |
NCBI chr 4:176,806,098...176,928,540
Ensembl chr 4:176,805,431...176,922,424
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Abo |
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase |
susceptibility |
ISO |
associated with COVID-19; DNA:polymorphism:cds:allele A (human) |
RGD |
PMID:32379894 |
RGD:35668862 |
NCBI chr 3:4,374,679...4,394,374
Ensembl chr 3:4,374,602...4,394,428
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Ace |
angiotensin I converting enzyme |
susceptibility treatment |
ISO IEP IMP IDA |
DNA:polymorphism CTD Direct Evidence: marker/mechanism protein:increased activity:lung (rat) |
CTD |
PMID:15773232 PMID:17473847 PMID:20237592 PMID:27847271, PMID:17283861, PMID:27325568, PMID:16203874, PMID:24342267, PMID:3006710, PMID:15118671, PMID:17392119 |
RGD:1601114, RGD:40400899, RGD:1581743, RGD:11039415, RGD:8157611, RGD:1331525, RGD:1601113 |
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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Ace2 |
angiotensin I converting enzyme 2 |
treatment |
ISO IEP |
associated with Metabolic Syndrome X (MeSH:D024821) mRNA, protein:decreased expression:kidney (rat) CTD Direct Evidence: marker/mechanism|therapeutic mRNA, protein:decreased expression:aorta |
CTD |
PMID:12075344 PMID:15833808 PMID:17473847 PMID:18391097 PMID:19221212 PMID:20559404 PMID:21859683, PMID:16459167, PMID:12075344, PMID:20854846, PMID:16788004, PMID:17345786 |
RGD:1642828, RGD:629626, RGD:9685442, RGD:9685435, RGD:9685433 |
NCBI chr X:32,050,734...32,095,860
Ensembl chr X:32,049,931...32,096,016
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Acsm3 |
acyl-CoA synthetase medium-chain family member 3 |
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IAGP |
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RGD |
PMID:8094726, PMID:8507454 |
RGD:61050, RGD:634023 |
NCBI chr 1:189,514,504...189,541,233
Ensembl chr 1:189,514,553...189,541,224
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Actc1 |
actin, alpha, cardiac muscle 1 |
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IEP |
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RGD |
PMID:16343576 |
RGD:1598724 |
NCBI chr 3:105,507,403...105,512,939
Ensembl chr 3:105,507,403...105,512,939
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Ada |
adenosine deaminase |
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IDA |
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RGD |
PMID:9605386 |
RGD:1624292 |
NCBI chr 3:160,115,840...160,139,947
Ensembl chr 3:160,115,842...160,139,947
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Adamts16 |
ADAM metallopeptidase with thrombospondin type 1 motif, 16 |
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IMP |
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RGD |
PMID:23185005 |
RGD:9685162 |
NCBI chr 1:35,067,268...35,200,530
Ensembl chr 1:35,067,490...35,198,939
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Adamts16em1Bj |
ADAM metallopeptidase with thrombospondin type 1 motif, 16; ZFN mutant1,Bj |
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IMP |
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RGD |
PMID:23185005 |
RGD:9685162 |
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Adcy5 |
adenylate cyclase 5 |
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ISO IEP |
CTD Direct Evidence: marker/mechanism mRNA:decreased expression:heart left ventricle |
CTD |
PMID:12717102, PMID:12717102 |
RGD:13464134 |
NCBI chr11:68,695,839...68,842,452
Ensembl chr11:68,695,839...68,842,320
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Add1 |
adducin 1 |
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IAGP ISO IDA |
CTD Direct Evidence: marker/mechanism DNA:polymorphism: :p.G460W (human) |
CTD |
PMID:15773232 PMID:19199261, PMID:15474463, PMID:8543181, PMID:9149697 |
RGD:1302895, RGD:631736, RGD:1624953 |
NCBI chr14:81,367,466...81,426,610
Ensembl chr14:81,367,468...81,426,496
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Add2 |
adducin 2 |
no_association |
IDA ISO |
DNA:SNP: :rs4852706 (human) DNA:polymorphism |
RGD GAD |
PMID:2059221, PMID:24652215, PMID:15118671, PMID:16497648 |
RGD:631712, RGD:10047131, RGD:1331525, RGD:1625293 |
NCBI chr 4:117,691,294...117,887,556
Ensembl chr 4:117,743,710...117,882,464
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Add3 |
adducin 3 |
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IDA |
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RGD |
PMID:12364392 |
RGD:704369 |
NCBI chr 1:273,854,195...273,961,982
Ensembl chr 1:273,854,248...273,961,982
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Adipoq |
adiponectin, C1Q and collagen domain containing |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12860835 |
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NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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Adm |
adrenomedullin |
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IEP ISO |
mRNA, protein:increased expression:myocardium, aorta protein:increased expression:plasma |
RGD |
PMID:16450076, PMID:16625237 |
RGD:1625300, RGD:1625298 |
NCBI chr 1:175,443,189...175,447,260
Ensembl chr 1:175,445,088...175,447,259
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Adora1 |
adenosine A1 receptor |
treatment no_association |
IMP IDA ISO |
associated with diabetes mellitus, experimental |
RGD |
PMID:8998253, PMID:9597368, PMID:15257174 |
RGD:1625366, RGD:1625365, RGD:1625367 |
NCBI chr13:51,042,111...51,076,913
Ensembl chr13:51,042,248...51,076,852
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Adora2a |
adenosine A2a receptor |
no_association |
ISO |
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RGD GAD |
PMID:15257174, PMID:15118671 |
RGD:1625367, RGD:1331525 |
NCBI chr20:14,265,251...14,282,873
Ensembl chr20:14,265,252...14,282,873
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Adra1a |
adrenoceptor alpha 1A |
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IEP ISO |
mRNA:decreased expression:aorta |
RGD |
PMID:16371063, PMID:19011682 |
RGD:1625770, RGD:5688340 |
NCBI chr15:43,296,997...43,398,314
Ensembl chr15:43,298,794...43,392,451
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Adra1b |
adrenoceptor alpha 1B |
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ISO |
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RGD |
PMID:16095979 |
RGD:1625771 |
NCBI chr10:29,392,762...29,450,644
Ensembl chr10:29,392,762...29,450,644
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Adra2a |
adrenoceptor alpha 2A |
no_association |
ISO IEP |
DNA:polymorphism CTD Direct Evidence: marker/mechanism mRNA:decreased expression:adrenal gland medulla |
CTD |
PMID:10694191, PMID:16636200, PMID:20691504 |
RGD:1625183, RGD:6480490 |
NCBI chr 1:274,766,283...274,769,083
Ensembl chr 1:274,766,283...274,769,081
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Adra2b |
adrenoceptor alpha 2B |
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ISO IMP |
DNA:polymorphism (human) |
RGD |
PMID:18953403, PMID:17070424 |
RGD:2313541, RGD:2313548 |
NCBI chr 3:119,805,941...119,809,987
Ensembl chr 3:119,805,941...119,809,987
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Adrb1 |
adrenoceptor beta 1 |
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IEP ISO |
protein:increased expression:aorta CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Type 2; |
CTD |
PMID:9260993 PMID:10673262, PMID:19060223, PMID:20398560 |
RGD:5129127, RGD:7241549 |
NCBI chr 1:277,537,585...277,538,985
Ensembl chr 1:277,537,585...277,538,985
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Adrb2 |
adrenoceptor beta 2 |
no_association susceptibility |
ISO IEP |
DNA:polymorphisms: :p.R16G, p.Q27E DNA:polymorphisms: :pG16R, p.Q27E, p.T164I (human) associated with Kidney Failure, Chronic; DNA:SNP:cds:p.R16G (human) DNA:polymorphisms: :46A>G, 79C>G (human) |
RGD GAD |
PMID:17221209, PMID:16041242, PMID:15118671, PMID:2471888, PMID:20484896, PMID:20739939, PMID:16685203 |
RGD:1601119, RGD:1578728, RGD:1331525, RGD:7175287, RGD:7175066, RGD:4144883, RGD:1601123 |
NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
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Adrb3 |
adrenoceptor beta 3 |
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ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.W64R (human) |
RGD |
PMID:10981554 |
RGD:2313166 |
NCBI chr16:69,003,541...69,006,632
Ensembl chr16:69,003,868...69,006,632
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Ager |
advanced glycosylation end product-specific receptor |
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IEP ISO |
protein:increased expression:kidney CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32147540, PMID:19018797 |
RGD:2325653 |
NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
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Agt |
angiotensinogen |
treatment no_association susceptibility |
IEP ISO IDA IMP |
protein:increased expression:plasma, urine CTD Direct Evidence: marker/mechanism|therapeutic DNA:polymorphisms: :p.T174M, p.M235T (human) DNA:polymorphisms: :-6G>A, p.M235T, p.T174M DNA:polymorphism: :p.M235T DNA:polymorphism:promoter:-20C>A (human) DNA:polymorphism: :p.M268T (human) |
CTD |
PMID:43064 PMID:1394429 PMID:1432030 PMID:1849535 PMID:1860718 PMID:1875449 PMID:2831029 PMID:2835134 PMID:3158602 PMID:6742791 PMID:7323490 PMID:8021468 PMID:8109997 PMID:8505092 PMID:9024144 PMID:9260993 PMID:10400907 PMID:10526905 PMID:11459117 PMID:11501062 PMID:12084390 PMID:12121858 PMID:12414515 PMID:12600921 PMID:12676074 PMID:14751847 PMID:15243307 PMID:15302986 PMID:15699457 PMID:15833808 PMID:15851630 PMID:16618834 PMID:16788141 PMID:16868307 PMID:17272743 PMID:17537837 PMID:17989111 PMID:18420994 PMID:18679781 PMID:18768397 PMID:18785976 PMID:18847324 PMID:19109942 PMID:19133994 PMID:19373235 PMID:19770776 PMID:19858406 PMID:20231528 PMID:20429690 PMID:20713914 PMID:20811386 PMID:20837116 PMID:20937366 PMID:21289285 PMID:21393355 PMID:21420289 PMID:21501650 PMID:22083158 PMID:22214961 PMID:22452651 PMID:22753205 PMID:22982863 PMID:24342267 PMID:24347665 PMID:24386282 PMID:24935938 PMID:24965170 PMID:25139994 PMID:25259750 PMID:25398788 PMID:25874449 PMID:26564064 PMID:26648693 PMID:26781276 PMID:27225954 PMID:27678262 PMID:27798352 PMID:27889505 PMID:29706566 PMID:30354818 PMID:31016362 PMID:31098697 PMID:31786979, PMID:21346625, PMID:24342267, PMID:21865264, PMID:19932924, PMID:9622148, PMID:19779471, PMID:15118671, PMID:1394429, PMID:12468106, PMID:16514903, PMID:17334527, PMID:16739866, PMID:17161775, PMID:21312059 |
RGD:5129176, RGD:11039415, RGD:8549470, RGD:8549469, RGD:8549458, RGD:8548902, RGD:1331525, RGD:1300393, RGD:1358275, RGD:1601143, RGD:1601130, RGD:1601141, RGD:1601139, RGD:5129166 |
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
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Agtr1a |
angiotensin II receptor, type 1a |
no_association susceptibility |
IMP ISO IEP |
associated with Sleep Apnea Syndromes CTD Direct Evidence: marker/mechanism mRNA:increased expression:aortic endothelial cell DNA:polymorphism:3' utr:1166A>C DNA:polymorphism:3' utr:g.1166A>C |
CTD |
PMID:8952600 PMID:19047579 PMID:23603059 PMID:27292124, PMID:21040717, PMID:9622148, PMID:15118671, PMID:8181542, PMID:9456365, PMID:16519598, PMID:21346625 |
RGD:5129169, RGD:8549458, RGD:1331525, RGD:5147456, RGD:1601152, RGD:1601148, RGD:5129176 |
NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
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Agtr1b |
angiotensin II receptor, type 1b |
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IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22728133 PMID:27847271, PMID:10994756 |
RGD:1598885 |
NCBI chr 2:105,149,020...105,224,335
Ensembl chr 2:105,149,020...105,224,295
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Agtr2 |
angiotensin II receptor, type 2 |
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IMP ISO IEP |
associated with Sleep Apnea Syndromes CTD Direct Evidence: marker/mechanism mRNA, protein:decreased expression:kidney |
CTD |
PMID:15710752, PMID:21040717, PMID:11924718, PMID:19680135 |
RGD:5129169, RGD:6903865, RGD:6903372 |
NCBI chr X:119,389,480...119,393,845
Ensembl chr X:119,390,013...119,393,842
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Agtrap |
angiotensin II receptor-associated protein |
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IEP |
protein:increased expression:kidney |
RGD |
PMID:18725581 |
RGD:2314351 |
NCBI chr 5:164,888,069...164,898,387
Ensembl chr 5:164,886,813...164,898,420
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Ahcy |
adenosylhomocysteinase |
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ISO |
associated with hyperhomocysteinemia |
RGD |
PMID:16815886 |
RGD:1601153 |
NCBI chr 3:150,587,833...150,603,057
Ensembl chr 3:150,587,833...150,603,082
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Ahr |
aryl hydrocarbon receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21115475 |
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NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
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Aif1 |
allograft inflammatory factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32147540 |
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NCBI chr20:5,161,350...5,167,176
Ensembl chr20:5,161,333...5,166,448
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Akt1 |
AKT serine/threonine kinase 1 |
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IDA |
protein:increased serine phosphorylation:kidney |
RGD |
PMID:23323219 |
RGD:10041025 |
NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
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Akt2 |
AKT serine/threonine kinase 2 |
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IEP |
mRNA:increased expression:cerebral cortex (rat) |
RGD |
PMID:12902546 |
RGD:2313350 |
NCBI chr 1:84,400,939...84,451,223
Ensembl chr 1:84,411,726...84,450,162
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Alad |
aminolevulinate dehydratase |
no_association |
ISO |
DNA:polymorphism CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20123609, PMID:11335187 |
RGD:1601156 |
NCBI chr 5:78,368,867...78,379,206
Ensembl chr 5:78,368,867...78,379,346
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Alb |
albumin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:2526952 |
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NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
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Aldh2 |
aldehyde dehydrogenase 2 family member |
susceptibility no_association |
ISO |
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RGD |
PMID:11510748, PMID:12484509 |
RGD:1601164, RGD:1601163 |
NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
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Alox12 |
arachidonate 12-lipoxygenase, 12S type |
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IEP |
mRNA:decreased expression:medulla oblongata |
RGD |
PMID:16445702 |
RGD:5509789 |
NCBI chr10:56,851,734...56,864,049
Ensembl chr10:56,851,734...56,864,005
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Alox15 |
arachidonate 15-lipoxygenase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22467300 |
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NCBI chr10:56,953,692...56,962,145
Ensembl chr10:56,953,691...56,962,161
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Alox5 |
arachidonate 5-lipoxygenase |
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IDA |
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RGD |
PMID:16331105 |
RGD:1626151 |
NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
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Angpt1 |
angiopoietin 1 |
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ISO |
protein:increased expression:plasma, platelet |
RGD |
PMID:16942942, PMID:18285514 |
RGD:1626157, RGD:2316068 |
NCBI chr 7:81,338,327...81,592,459
Ensembl chr 7:81,342,280...81,592,206
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Anxa1 |
annexin A1 |
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IEP ISO |
protein:altered localization:vascular associated smooth muscle cell CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22228705, PMID:16109804 |
RGD:1599668 |
NCBI chr 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
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Aoc1 |
amine oxidase, copper containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6218830 |
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NCBI chr 4:78,496,043...78,515,582
Ensembl chr 4:78,496,043...78,515,584
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Aoc3 |
amine oxidase, copper containing 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23154672 |
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NCBI chr10:89,251,370...89,259,313
Ensembl chr10:89,251,370...89,259,313
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Apln |
apelin |
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IEP |
mRNA:decreased expression:aorta, heart |
RGD |
PMID:15664402 |
RGD:1626176 |
NCBI chr X:134,856,719...134,866,210
Ensembl chr X:134,856,726...134,866,210
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Apoa1 |
apolipoprotein A1 |
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IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18224302, PMID:23401751 |
RGD:7241867 |
NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
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Apob |
apolipoprotein B |
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ISO |
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GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
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Apoe |
apolipoprotein E |
onset |
ISO IEP |
CTD Direct Evidence: marker/mechanism mRNA:decreased expression:multiple (rat) |
CTD |
PMID:20720404 PMID:22228705, PMID:15118671, PMID:20585107 |
RGD:1331525, RGD:6904214 |
NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
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App |
amyloid beta precursor protein |
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IEP |
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RGD |
PMID:29713228 |
RGD:13703136 |
NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
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Aqp1 |
aquaporin 1 |
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IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22228705, PMID:20156423 |
RGD:5148031 |
NCBI chr 4:85,551,503...85,563,683
Ensembl chr 4:85,551,502...85,569,360
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Aqp2 |
aquaporin 2 |
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IEP |
protein:decreased expression:kidney medulla protein:increased expression:kidney medulla |
RGD |
PMID:16788141, PMID:16582573 |
RGD:1601242, RGD:1601243 |
NCBI chr 7:141,237,802...141,242,837
Ensembl chr 7:141,237,768...141,245,165
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Aqp4 |
aquaporin 4 |
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IEP |
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RGD |
PMID:20156423 |
RGD:5148031 |
NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
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Ar |
androgen receptor |
treatment |
IDA ISO IMP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10523385, PMID:15746697, PMID:12397037 |
RGD:1601245, RGD:10043316 |
NCBI chr X:67,656,253...67,828,998
Ensembl chr X:67,656,253...67,829,026
|
|
G |
Arg1 |
arginase 1 |
|
IMP IEP |
mRNA:increased expression:aorta (rat) |
RGD |
PMID:18475148, PMID:17223136 |
RGD:4142834, RGD:1626296 |
NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
|
|
G |
Arg2 |
arginase 2 |
|
IMP IEP |
mRNA:increased expression:lung mRNA:increased expression:aorta (rat) |
RGD |
PMID:18475148, PMID:20039818, PMID:17223136 |
RGD:4142834, RGD:4143278, RGD:1626296 |
NCBI chr 6:102,311,097...102,338,406
Ensembl chr 6:102,311,116...102,338,520
|
|
G |
Arhgdia |
Rho GDP dissociation inhibitor alpha |
|
IEP |
mRNA:decreased expression:urinary bladder protein:decreased expression:cortical collecting duct |
RGD |
PMID:19689474, PMID:25164814 |
RGD:9684972, RGD:9684979 |
NCBI chr10:109,754,012...109,757,506
Ensembl chr10:109,754,004...109,757,550
|
|
G |
Arid1b |
AT-rich interaction domain 1B |
treatment |
IEP |
|
RGD |
PMID:17489020 |
RGD:9587762 |
NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
|
|
G |
Arntl2 |
aryl hydrocarbon receptor nuclear translocator-like 2 |
|
ISO |
DNA:SNPs: :rs6486121, rs3789327, rs969485(human) |
RGD |
PMID:17728404 |
RGD:2314371 |
NCBI chr 4:181,103,774...181,158,415
Ensembl chr 4:181,103,774...181,214,994
|
|
G |
Arrb2 |
arrestin, beta 2 |
|
IEP |
protein:decreased expression:rostral ventrolateral medulla |
RGD |
PMID:27861247 |
RGD:13506896 |
NCBI chr10:57,040,252...57,048,045
Ensembl chr10:57,040,267...57,048,134
|
|
G |
Atf2 |
activating transcription factor 2 |
|
IDA |
|
RGD |
PMID:11358932 |
RGD:10047414 |
NCBI chr 3:60,721,137...60,795,951
Ensembl chr 3:60,721,135...60,795,951
|
|
G |
Atg7 |
autophagy related 7 |
|
IEP |
protein:increased expression:skeletal muscle |
RGD |
PMID:24119246 |
RGD:11557985 |
NCBI chr 4:146,570,113...146,777,093
Ensembl chr 4:146,598,413...146,777,124
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|
G |
Atox1 |
antioxidant 1 copper chaperone |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:22753205 |
|
NCBI chr10:40,790,850...40,805,886
Ensembl chr10:40,790,845...40,805,941
|
|
G |
Atp1a1 |
ATPase Na+/K+ transporting subunit alpha 1 |
|
IAGP ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23416519, PMID:8082931 |
RGD:1579862 |
NCBI chr 2:204,003,742...204,032,023
Ensembl chr 2:204,003,742...204,032,023
|
|
G |
Atp1a2 |
ATPase Na+/K+ transporting subunit alpha 2 |
susceptibility |
IEP ISO |
protein:decreased expression:adrenal gland cortex zone CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16166162 PMID:16243970, PMID:11768735, PMID:11257061, PMID:16243970 |
RGD:1601253, RGD:1601254, RGD:1601251 |
NCBI chr13:90,651,682...90,676,629
Ensembl chr13:90,651,686...90,676,629
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|
G |
Atp2a3 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 |
|
IEP |
|
RGD |
PMID:11208768 |
RGD:68726 |
NCBI chr10:59,528,849...59,560,440
Ensembl chr10:59,529,785...59,560,433
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|
G |
Atp2b1 |
ATPase plasma membrane Ca2+ transporting 1 |
|
IEP ISO |
mRNA:increased expression:vascular associated smooth muscle cell CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19430479, PMID:20137670 |
RGD:2317726 |
NCBI chr 7:41,114,606...41,223,138
Ensembl chr 7:41,114,697...41,220,579
|
|
G |
Atp2b3 |
ATPase plasma membrane Ca2+ transporting 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23416519 |
|
NCBI chr X:157,236,400...157,312,028
Ensembl chr X:157,239,306...157,312,028
|
|
G |
Atp5f1a |
ATP synthase F1 subunit alpha |
|
IEP |
protein:decreased expression:heart left ventricle (rat) |
RGD |
PMID:24388463 |
RGD:7800726 |
NCBI chr18:74,156,553...74,164,490
Ensembl chr18:74,156,553...74,164,495
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|
G |
Atp6ap2 |
ATPase H+ transporting accessory protein 2 |
|
IEP |
|
RGD |
PMID:21321306 |
RGD:5132599 |
NCBI chr X:11,137,889...11,164,854
Ensembl chr X:11,136,939...11,164,915
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|
G |
Avp |
arginine vasopressin |
|
IEP ISO |
protein:increased expression:carotid artery CTD Direct Evidence: marker/mechanism protein:increased expression:plasma |
CTD |
PMID:1663982 PMID:3346065 PMID:4040330 PMID:6367368 PMID:19133994, PMID:12623976, PMID:16582573 |
RGD:1601305, RGD:1601243 |
NCBI chr 3:123,117,482...123,119,460
Ensembl chr 3:123,117,492...123,119,460
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|
G |
Avpr1a |
arginine vasopressin receptor 1A |
|
IEP ISO |
mRNA, protein:increased expression:paraventricular hypothalamic nucleus mRNA, protein:increased expression:kidney, arteriole DNA:SNP |
RGD |
PMID:15475662, PMID:15657301, PMID:17653244 |
RGD:2300330, RGD:2300322, RGD:2300319 |
NCBI chr 7:67,341,366...67,345,290
Ensembl chr 7:67,341,080...67,345,308
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|
G |
Avpr2 |
arginine vasopressin receptor 2 |
severity |
IDA |
|
RGD |
PMID:12072411 |
RGD:1298694 |
NCBI chr X:156,889,006...156,892,707
Ensembl chr X:156,889,410...156,891,213
|
|
G |
B2m |
beta-2 microglobulin |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:15957539 |
RGD:1601306 |
NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
|
|
G |
Bad |
BCL2-associated agonist of cell death |
treatment |
IEP |
|
RGD |
PMID:20065158 |
RGD:10053702 |
NCBI chr 1:222,198,516...222,207,459
Ensembl chr 1:222,198,534...222,207,453
|
|
G |
Bax |
BCL2 associated X, apoptosis regulator |
treatment |
IEP |
|
RGD |
PMID:20065158 |
RGD:10053702 |
NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
|
|
G |
Bche |
butyrylcholinesterase |
|
ISO |
|
RGD |
PMID:12387587 |
RGD:1601322 |
NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
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|
G |
Bcl2 |
BCL2, apoptosis regulator |
treatment |
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10075388, PMID:20065158 |
RGD:10053702 |
NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
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|
G |
Bdkrb1 |
bradykinin receptor B1 |
|
IMP IEP ISO |
|
RGD |
PMID:17988733, PMID:12025958, PMID:15643125 |
RGD:5129214, RGD:704378, RGD:1625732 |
NCBI chr 6:129,437,423...129,441,553
Ensembl chr 6:129,438,158...129,440,574
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|
G |
Bdkrb2 |
bradykinin receptor B2 |
|
IEP ISO |
protein:increased expression:spinal cord CTD Direct Evidence: marker/mechanism mRNA:increased expression:hypothalamus DNA:SNP:promoter:-58T>C (human) |
CTD |
PMID:10614985, PMID:11934804, PMID:15118671, PMID:12025958, PMID:10904024 |
RGD:4890455, RGD:1331525, RGD:704378, RGD:4891034 |
NCBI chr 6:129,399,468...129,429,676
Ensembl chr 6:129,399,468...129,429,676
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|
G |
Becn1 |
beclin 1 |
|
IEP |
protein:increased expression:brain |
RGD |
PMID:23499735 |
RGD:11561939 |
NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
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|
G |
Brca1 |
BRCA1, DNA repair associated |
|
IEP |
|
RGD |
PMID:24239235 |
RGD:8693672 |
NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
|
|
G |
Brs3 |
bombesin receptor subtype 3 |
|
ISO |
|
RGD |
PMID:9367152 |
RGD:734661 |
NCBI chr X:159,484,953...159,510,944
Ensembl chr X:159,505,344...159,511,021
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|
G |
C3 |
complement C3 |
|
IEP |
|
RGD |
PMID:22416803 |
RGD:11040890 |
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
|
|
G |
Cacna1c |
calcium voltage-gated channel subunit alpha1 C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22949532 |
|
NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
|
|
G |
Cacna2d1 |
calcium voltage-gated channel auxiliary subunit alpha2delta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22949532 |
|
NCBI chr 4:15,706,974...16,130,848
Ensembl chr 4:15,710,417...16,130,848
|
|
G |
Cacnb2 |
calcium voltage-gated channel auxiliary subunit beta 2 |
susceptibility |
ISO |
DNA:SNP: :rs4373814(human) |
RGD |
PMID:24338417 |
RGD:13513987 |
NCBI chr17:81,673,862...82,019,219
Ensembl chr17:81,798,756...82,017,682
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|
G |
Calca |
calcitonin-related polypeptide alpha |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:1849535 PMID:9887042 |
|
NCBI chr 1:184,184,018...184,188,922
Ensembl chr 1:184,184,020...184,188,911
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|
G |
Casp3 |
caspase 3 |
treatment |
IDA IEP |
|
RGD |
PMID:20065158, PMID:27929425 |
RGD:10053702, RGD:13782308 |
NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
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|
G |
Casp8 |
caspase 8 |
|
IEP |
|
RGD |
PMID:27929425 |
RGD:13782308 |
NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
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|
G |
Casp9 |
caspase 9 |
|
IEP |
|
RGD |
PMID:27929425 |
RGD:13782308 |
NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
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|
G |
Cat |
catalase |
|
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11479740 PMID:20667508 PMID:21593737 PMID:22228705, PMID:16716903 |
RGD:1580833 |
NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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|
G |
Cav1 |
caveolin 1 |
|
IEP ISO |
protein:increased expression:artery smooth muscle, blood vessel endothelial cell CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1798635, PMID:17986358 |
RGD:2289116 |
NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
|
|
G |
Cbs |
cystathionine beta synthase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18224302 |
|
NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
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|
G |
Ccl2 |
C-C motif chemokine ligand 2 |
treatment |
IEP ISO IDA |
protein:increased expression:urine CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA, protein:increased expression:kidney cortex, urine |
CTD |
PMID:20667508 PMID:27292124, PMID:17989143, PMID:17922026, PMID:18459944 |
RGD:2307054, RGD:8549771, RGD:2307029 |
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
|
|
G |
Ccl28 |
C-C motif chemokine ligand 28 |
no_association |
IEP |
mRNA, protein:decreased expression:kidney (rat) protein:increased expression:kidney (rat) |
RGD |
PMID:19829664, PMID:16840655 |
RGD:4892132, RGD:2298761 |
NCBI chr 2:52,379,341...52,403,979
Ensembl chr 2:52,379,341...52,404,246
|
|
G |
Ccl5 |
C-C motif chemokine ligand 5 |
|
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum |
RGD |
PMID:15668187 |
RGD:2307105 |
NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
|
|
G |
Ccn2 |
cellular communication network factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16685210 |
|
NCBI chr 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
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|
G |
Ccne1 |
cyclin E1 |
|
IEP |
protein:increased expression:vascular associated smooth muscle cell |
RGD |
PMID:12847112 |
RGD:2289296 |
NCBI chr 1:94,485,830...94,495,112
Ensembl chr 1:94,485,832...94,494,980
|
|
G |
Ccr5 |
C-C motif chemokine receptor 5 |
|
IEP ISO |
mRNA:increased expression:aorta (rat) DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) |
RGD |
PMID:20044442, PMID:12680626 |
RGD:4890416, RGD:1581182 |
NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
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|
G |
Cd14 |
CD14 molecule |
|
ISO |
associated with Glomerulonephritis, IGA; DNA:polymorphism: :-159C>T (human) |
RGD |
PMID:22072187 |
RGD:7204129 |
NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
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|
G |
Cd36 |
CD36 molecule |
|
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18587397, PMID:18587397 |
RGD:2300254 |
NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
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|
G |
Cd82 |
Cd82 molecule |
|
IEP |
mRNA:increased expression:thymus |
RGD |
PMID:10321446 |
RGD:2289422 |
NCBI chr 3:82,324,344...82,368,846
Ensembl chr 3:82,324,354...82,368,357
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|
G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
|
IEP |
protein:increased expression:kidney |
RGD |
PMID:18504326 |
RGD:2316082 |
NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
|
|
G |
Cdo1 |
cysteine dioxygenase type 1 |
|
IEP |
protein:decreased expression:brain |
RGD |
PMID:6726227 |
RGD:2301363 |
NCBI chr18:40,702,027...40,716,901
Ensembl chr18:40,701,984...40,716,686
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|
G |
Cela2a |
chymotrypsin like elastase 2A |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: High blood pressure |
CTD ClinVar |
PMID:21602471 PMID:31358993 |
|
NCBI chr 5:160,374,031...160,383,782
Ensembl chr 5:160,374,031...160,383,782
|
|
G |
Chga |
chromogranin A |
no_association |
ISO IEP |
protein:creased expression:adrenal gland mRNA, protein:increased expression:adrenal gland medulla, plasma DNA:polymorphisms:promoter |
RGD |
PMID:21061160, PMID:10803489, PMID:10803489, PMID:20113265, PMID:20729505 |
RGD:6906897, RGD:6907055, RGD:6907055, RGD:6906902, RGD:6906900 |
NCBI chr 6:126,434,226...126,445,569
Ensembl chr 6:126,434,226...126,445,568
|
|
G |
Chi3l1 |
chitinase 3 like 1 |
|
IEP |
mRNA:increased expression:brainstem, solitary tract nucleus (rat) |
RGD |
PMID:18703386 |
RGD:4892597 |
NCBI chr13:51,022,844...51,030,797
Ensembl chr13:51,022,681...51,030,802
|
|
G |
Chst12 |
carbohydrate sulfotransferase 12 |
|
IEP |
mRNA:decreased expression:renal cortex and medulla (rat) |
RGD |
PMID:25001272 |
RGD:8693701 |
NCBI chr12:16,199,975...16,218,404
Ensembl chr12:16,200,019...16,201,632
|
|
G |
Clcnka |
chloride voltage-gated channel Ka |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18480177 |
|
NCBI chr 5:159,931,497...159,946,483
Ensembl chr 5:159,931,511...159,946,446
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|
G |
Clcnkb |
chloride voltage-gated channel Kb |
no_association |
ISO |
DNA:polymorphism:T481S |
RGD |
PMID:15148291, PMID:16003175 |
RGD:1600684, RGD:1600683 |
NCBI chr 5:159,950,384...159,973,576
Ensembl chr 5:159,950,392...159,962,676
|
|
G |
Cldn16 |
claudin 16 |
|
IDA |
Protein:decreased serine phosphorylation:kidney |
RGD |
PMID:16959063 |
RGD:1599616 |
NCBI chr11:77,683,942...77,703,232
Ensembl chr11:77,681,794...77,703,255
|
|
G |
Clock |
clock circadian regulator |
|
IEP |
mRNA:altered expression:gastrocnemius muscle (rat) |
RGD |
PMID:22076133 |
RGD:9686076 |
NCBI chr14:34,418,226...34,502,218
Ensembl chr14:34,446,616...34,502,218
|
|
G |
Clu |
clusterin |
|
ISO |
DNA:SNP:exon:866C>T (human) |
RGD |
PMID:15925890 |
RGD:1581195 |
NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
|
|
G |
Cma1 |
chymase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14620933 |
|
NCBI chr15:34,601,037...34,603,819
Ensembl chr15:34,601,037...34,603,819
|
|
G |
Cnr1 |
cannabinoid receptor 1 |
|
IMP |
|
RGD |
PMID:19133994 |
RGD:2314680 |
NCBI chr 5:49,307,584...49,333,064
Ensembl chr 5:49,311,030...49,333,056
|
|
G |
Col1a1 |
collagen type I alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11682445 |
|
NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
|
|
G |
Col3a1 |
collagen type III alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11682445 |
|
NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
|
|
G |
Col4a4 |
collagen type IV alpha 4 chain |
|
ISO |
ClinVar Annotator: match by term: Hypertension ClinVar Annotator: match by term: High blood pressure |
ClinVar |
PMID:24033266 PMID:25741868 |
|
NCBI chr 9:88,314,763...88,357,183
Ensembl chr 9:88,232,455...88,357,182
|
|
G |
Col4a5 |
collagen type IV alpha 5 chain |
|
ISO |
ClinVar Annotator: match by term: Hypertension |
ClinVar |
PMID:9848783 PMID:11223851 PMID:17396119 PMID:19728970 PMID:19965530 PMID:20378821 PMID:21332469 PMID:24470729 PMID:25741868 PMID:26467025 PMID:26809805 PMID:26934356 PMID:28492532 PMID:28844315 PMID:29854973 |
|
NCBI chr X:112,769,595...112,983,720
Ensembl chr X:112,769,645...112,983,685
|
|
G |
Comt |
catechol-O-methyltransferase |
susceptibility |
IEP IDA ISO |
protein:increased expression:cerebral cortex DNA:polymorphism: :-1187G>C, 186C>T |
RGD |
PMID:17978496, PMID:17510509, PMID:17143180, PMID:14714585 |
RGD:2289729, RGD:8662344, RGD:2289742, RGD:2289787 |
NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
|
|
G |
Corin |
corin, serine peptidase |
|
ISO |
|
RGD |
PMID:17485366, PMID:16216958 |
RGD:1626338, RGD:1581219 |
NCBI chr14:38,247,379...38,474,931
Ensembl chr14:38,247,791...38,473,648
|
|
G |
Cox5b |
cytochrome c oxidase subunit 5B |
|
IEP |
protein:decreased expression:heart left ventricle |
RGD |
PMID:16132109 |
RGD:2301377 |
NCBI chr 9:43,259,706...43,262,039
Ensembl chr 9:43,259,709...43,262,040
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|
G |
Cps1 |
carbamoyl-phosphate synthase 1 |
|
IEP |
protein:decreased expression:liver, mitochondrion |
RGD |
PMID:19135993 |
RGD:2303405 |
NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
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|
G |
Crhr1 |
corticotropin releasing hormone receptor 1 |
|
IDA |
corticotropin releasing hormone-induced |
RGD |
PMID:11036160 |
RGD:1581302 |
NCBI chr10:92,191,473...92,233,662
Ensembl chr10:92,191,718...92,232,645
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|
G |
Crhr2 |
corticotropin releasing hormone receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10742107 |
|
NCBI chr 4:85,286,371...85,329,374
Ensembl chr 4:85,286,372...85,329,362
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|
G |
Crp |
C-reactive protein |
|
IEP ISO |
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism protein:increased expression:serum: |
CTD |
PMID:14620923 PMID:16680063 PMID:19770776 PMID:20667508, PMID:19905982, PMID:19056836, PMID:6720266 |
RGD:5131461, RGD:9586008, RGD:9491754 |
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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|
G |
Ctf1 |
cardiotrophin 1 |
|
ISO IEP |
protein:increased expression:plasma mRNA:increased expression:cardiac ventricle |
RGD |
PMID:15716706, PMID:8604995 |
RGD:1626411, RGD:69823 |
NCBI chr 1:199,162,319...199,168,296
Ensembl chr 1:199,163,086...199,168,296
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|
G |
Ctsc |
cathepsin C |
|
IEP |
|
RGD |
PMID:657443 |
RGD:1599651 |
NCBI chr 1:151,918,514...151,949,979
Ensembl chr 1:151,918,571...151,949,983
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|
G |
Cxcl2 |
C-X-C motif chemokine ligand 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22352330 |
|
NCBI chr14:18,731,346...18,733,391
Ensembl chr14:18,731,378...18,733,391
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|
G |
Cxcr2 |
C-X-C motif chemokine receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27678262 |
|
NCBI chr 9:81,427,275...81,435,065
Ensembl chr 9:81,427,730...81,434,102
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|
G |
Cyba |
cytochrome b-245 alpha chain |
|
IDA ISO IEP |
CTD Direct Evidence: marker/mechanism protein:increased expression:kidney cortex |
CTD |
PMID:16685210 PMID:17324946 PMID:20505675 PMID:32147540, PMID:17109653, PMID:12729892, PMID:20018820 |
RGD:4775206, RGD:1580276, RGD:2317853 |
NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
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G |
Cybb |
cytochrome b-245 beta chain |
|
IEP ISO |
Protein:increased expression:brain CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16685210 PMID:21593737 PMID:27659729 PMID:27847271 PMID:32147540 PMID:32165127, PMID:12472782 |
RGD:1599685 |
NCBI chr X:14,578,330...14,610,049
Ensembl chr X:14,578,264...14,612,547
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G |
Cyp11a1 |
cytochrome P450, family 11, subfamily a, polypeptide 1 |
|
IEP |
mRNA:increased expression:hypothalamus |
RGD |
PMID:16116051 |
RGD:1599701 |
NCBI chr 8:62,798,317...62,809,848
Ensembl chr 8:62,779,875...62,809,893
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G |
Cyp11b1 |
cytochrome P450, family 11, subfamily b, polypeptide 1 |
|
IEP IAGP |
mRNA:decreased expression:hypothalamus, cerebellum, cortex (rat) |
RGD |
PMID:19837774, PMID:7981756 |
RGD:4891156, RGD:69709 |
|
|
G |
Cyp11b2 |
cytochrome P450, family 11, subfamily b, polypeptide 2 |
|
ISO IMP IEP |
DNA:transition:5' utr:-344C>T (human) mRNA:increased expression:brainstem, hippocampus, cortex (rat) |
RGD |
PMID:10024332, PMID:18495825, PMID:19837774 |
RGD:4891152, RGD:2307304, RGD:4891156 |
NCBI chr 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
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G |
Cyp11b3 |
cytochrome P450, family 11, subfamily b, polypeptide 3 |
|
ISO |
ClinVar Annotator: match by term: Aldosterone to renin ratio, increased |
ClinVar |
PMID:12213905 PMID:12788845 PMID:17003099 |
|
NCBI chr 7:116,155,928...116,161,781
Ensembl chr 7:116,156,219...116,255,167
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|
G |
Cyp19a1 |
cytochrome P450, family 19, subfamily a, polypeptide 1 |
|
IEP |
mRNA:decreased expression:ovary (rat) |
RGD |
PMID:19228890 |
RGD:4761326 |
NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
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|
G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20634294 PMID:22995157, PMID:20634294 |
RGD:7257731 |
NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
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|
G |
Cyp2c11 |
cytochrome P450, subfamily 2, polypeptide 11 |
|
ISO IEP |
|
RGD |
PMID:19669737, PMID:18829737 |
RGD:6903909, RGD:6903915 |
NCBI chr 1:257,676,172...258,004,428
Ensembl chr 1:257,970,345...258,004,434
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|
G |
Cyp2j4 |
cytochrome P450, family 2, subfamily j, polypeptide 4 |
susceptibility |
ISO |
DNA:SNP |
RGD |
PMID:17286575, PMID:20501636 |
RGD:1625379, RGD:7243136 |
NCBI chr 5:119,546,458...119,564,843
Ensembl chr 5:119,546,461...119,564,846
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|
G |
Cyp4a1 |
cytochrome P450, family 4, subfamily a, polypeptide 1 |
|
ISO IEP |
mRNA:decreased expression:kidney cortex |
RGD |
PMID:16144986, PMID:16339392, PMID:18952718 |
RGD:1625567, RGD:2303383, RGD:2303381 |
NCBI chr 5:134,492,734...134,507,158
Ensembl chr 5:134,492,756...134,507,154
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G |
Cyp4a8 |
cytochrome P450, family 4, subfamily a, polypeptide 8 |
|
IEP |
mRNA:decreased expression:kidney cortex |
RGD |
PMID:18952718, PMID:16339392 |
RGD:2303381, RGD:2303383 |
NCBI chr 5:133,978,953...134,008,255
Ensembl chr 5:133,978,954...134,008,255
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G |
Cyp4f1 |
cytochrome P450, family 4, subfamily f, polypeptide 1 |
|
IEP |
mRNA:increased expression:kidney |
RGD |
PMID:16182239 |
RGD:2301709 |
NCBI chr 7:15,179,472...15,191,113
Ensembl chr 7:15,179,467...15,190,796
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G |
Dars2 |
aspartyl-tRNA synthetase 2 (mitochondrial) |
|
ISO |
ClinVar Annotator: match by term: High blood pressure |
ClinVar |
PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 PMID:23652419 PMID:24005482 PMID:24407472 PMID:25741868 |
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NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464
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G |
Dbh |
dopamine beta-hydroxylase |
resistance |
IEP ISO |
mRNA:increased expression:heart, adrenal gland (rat) DNA:polymorphism:5' utr:g.-2073C>T rs1989787 (human) |
RGD |
PMID:20596792, PMID:20814407 |
RGD:5129234, RGD:5129211 |
NCBI chr 3:5,709,236...5,731,895
Ensembl chr 3:5,709,236...5,731,898
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G |
Ddah1 |
dimethylarginine dimethylaminohydrolase 1 |
susceptibility |
ISO |
|
RGD |
PMID:16444868 |
RGD:1625582 |
NCBI chr 2:251,634,368...251,766,009
Ensembl chr 2:251,634,431...251,766,014
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G |
Dio2 |
iodothyronine deiodinase 2 |
susceptibility |
ISO |
|
RGD |
PMID:17224473 |
RGD:1626437 |
NCBI chr 6:114,475,156...114,489,443
Ensembl chr 6:114,476,142...114,476,723
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G |
Drd1 |
dopamine receptor D1 |
|
ISO |
|
RGD |
PMID:10948075, PMID:8636408 |
RGD:1580869, RGD:1300303 |
NCBI chr17:11,099,736...11,104,352
Ensembl chr17:11,101,306...11,103,541
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|
G |
Drd2 |
dopamine receptor D2 |
|
ISO |
DNA:polymorphism CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11566895, PMID:15939106, PMID:11494094 |
RGD:1600905, RGD:1580874 |
NCBI chr 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
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G |
Drd3 |
dopamine receptor D3 |
|
IDA |
|
RGD |
PMID:11675403 |
RGD:1580882 |
NCBI chr11:61,819,102...61,883,223
Ensembl chr11:61,822,077...61,874,327
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G |
Drd5 |
dopamine receptor D5 |
|
ISO |
|
RGD |
PMID:12486173 |
RGD:1580887 |
NCBI chr14:77,220,579...77,222,006
Ensembl chr14:77,220,579...77,222,006
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G |
Dusp1 |
dual specificity phosphatase 1 |
|
IEP |
mRNA, protein:increased expression:aorta |
RGD |
PMID:9231829 |
RGD:2298678 |
NCBI chr10:16,970,642...16,973,425
Ensembl chr10:16,970,626...16,973,418
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G |
Dusp5 |
dual specificity phosphatase 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25397684 |
|
NCBI chr 1:274,245,184...274,258,595
Ensembl chr 1:274,245,184...274,258,595
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G |
Dynll1 |
dynein light chain LC8-type 1 |
treatment |
IMP |
|
RGD |
PMID:24035314 |
RGD:13207430 |
NCBI chr12:47,074,200...47,076,573
Ensembl chr12:47,074,200...47,076,572
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G |
Ece1 |
endothelin converting enzyme 1 |
|
IDA ISO IEP |
CTD Direct Evidence: marker/mechanism mRNA,protein:increased expression,increased activity:kidney medulla |
CTD |
PMID:12566389, PMID:12193123, PMID:10894793 |
RGD:1580907, RGD:7244182 |
NCBI chr 5:156,215,469...156,318,652
Ensembl chr 5:156,215,417...156,318,671
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G |
Edn1 |
endothelin 1 |
|
IEP ISO |
protein:increased secretion:plasma (rat) CTD Direct Evidence: marker/mechanism human gene in a rat model associated with Diabetic Nephropathies;protein:increased secretion:plasma DNA:polymorphism:exon:p.K198N (human) |
CTD |
PMID:7721406 PMID:8152482 PMID:8440307 PMID:10474778 PMID:10669576 PMID:11847185 PMID:12149661 PMID:12425201 PMID:12600921 PMID:15188945 PMID:15302986 PMID:15314687 PMID:15834289 PMID:17130675, PMID:20733093, PMID:11078355, PMID:18496905, PMID:17444275 |
RGD:4144829, RGD:8661804, RGD:2313283, RGD:1625065 |
NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
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G |
Edn2 |
endothelin 2 |
|
ISO |
mRNA:increased expression:leukocyte |
RGD |
PMID:10976780, PMID:10489105, PMID:15007037 |
RGD:1580916, RGD:1580917, RGD:1625402 |
NCBI chr 5:139,098,472...139,106,396
Ensembl chr 5:139,100,898...139,105,792
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G |
Edn3 |
endothelin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2059916 |
|
NCBI chr 3:172,856,730...172,879,276
Ensembl chr 3:172,856,733...172,880,450
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G |
Ednra |
endothelin receptor type A |
|
IEP ISO IDA |
associated with Uremia CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12600921, PMID:20144075, PMID:14616768, PMID:16157796 |
RGD:4892284, RGD:1580950, RGD:1581830 |
NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703
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G |
Ednrb |
endothelin receptor type B |
|
IEP IMP |
associated with Uremia |
RGD |
PMID:20144075, PMID:10749572 |
RGD:4892284, RGD:628518 |
NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
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G |
Egfr |
epidermal growth factor receptor |
|
IEP |
mRNA, protein:increased expression:renal cortex |
RGD |
PMID:15827348 |
RGD:1580953 |
NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
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G |
Egln1 |
egl-9 family hypoxia-inducible factor 1 |
|
IMP |
|
RGD |
PMID:22686466 |
RGD:11252087 |
NCBI chr19:57,660,194...57,701,158
Ensembl chr19:57,662,278...57,699,113
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G |
Eif4g2 |
eukaryotic translation initiation factor 4, gamma 2 |
|
IEP |
mRNA:increased expression:heart left ventricle |
RGD |
PMID:12708758 |
RGD:10755511 |
NCBI chr 1:175,883,362...175,895,510
Ensembl chr 1:175,883,363...175,895,510
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G |
Eln |
elastin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17039479 |
|
NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
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G |
Emilin1 |
elastin microfibril interfacer 1 |
|
ISO |
|
RGD |
PMID:16530041 |
RGD:1580958 |
NCBI chr 6:26,821,249...26,829,013
Ensembl chr 6:26,821,255...26,828,972
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G |
Eng |
endoglin |
|
IEP |
mRNA:decreased expression:kidney (rat) |
RGD |
PMID:19829664 |
RGD:4892132 |
NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
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G |
Eno1 |
enolase 1 |
|
IEP |
|
RGD |
PMID:16485256 |
RGD:1598909 |
NCBI chr 5:167,288,223...167,299,610
Ensembl chr 5:167,288,223...167,299,609
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G |
Eno2 |
enolase 2 |
severity |
ISO |
protein:increased expression:serum |
RGD |
PMID:21130083 |
RGD:5508770 |
NCBI chr 4:157,285,192...157,294,090
Ensembl chr 4:157,285,179...157,294,047
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G |
Entpd2 |
ectonucleoside triphosphate diphosphohydrolase 2 |
|
IEP |
|
RGD |
PMID:20655932 |
RGD:9685529 |
NCBI chr 3:2,617,795...2,623,818
Ensembl chr 3:2,617,805...2,623,445
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G |
Ep300 |
E1A binding protein p300 |
|
IEP |
protein:increased expression:left ventricle (rat) |
RGD |
PMID:18292809 |
RGD:2312265 |
NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
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G |
Ephx2 |
epoxide hydrolase 2 |
susceptibility |
IDA IMP ISO |
DNA:missense mutation:cds:p.K55R (human) |
RGD |
PMID:16157792, PMID:21720266, PMID:19553349, PMID:20065888 |
RGD:1580985, RGD:5688733, RGD:5688730, RGD:5688727 |
NCBI chr15:42,757,241...42,794,211
Ensembl chr15:42,757,235...42,794,279
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G |
Epo |
erythropoietin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1516988 PMID:10694834 |
|
NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
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G |
Epor |
erythropoietin receptor |
susceptibility |
ISO |
induced by erythropoietin; |
RGD |
PMID:19458615 |
RGD:11041646 |
NCBI chr 8:22,969,737...22,974,468
Ensembl chr 8:22,969,745...22,974,321
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G |
Erap1 |
endoplasmic reticulum aminopeptidase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:13678427 |
|
NCBI chr 2:1,410,877...1,449,734
Ensembl chr 2:1,410,934...1,449,733
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G |
Esr2 |
estrogen receptor 2 |
|
ISO IMP |
|
RGD |
PMID:11799247, PMID:23608653, PMID:11185739, PMID:15167447 |
RGD:734949, RGD:7364951, RGD:1581015, RGD:1581017 |
NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
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G |
F11 |
coagulation factor XI |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6383834 |
|
NCBI chr16:50,179,458...50,201,644
Ensembl chr16:50,179,458...50,201,698
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G |
F11r |
F11 receptor |
susceptibility |
ISO IEP |
DNA:SNPs: :rs790056, rs2774276 (human) |
RGD |
PMID:18067551, PMID:17420334 |
RGD:7488938, RGD:7488939 |
NCBI chr13:89,826,272...89,850,151
Ensembl chr13:89,826,254...89,850,612
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G |
F12 |
coagulation factor XII |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: High blood pressure |
CTD ClinVar |
PMID:6383834 PMID:16638441 PMID:25741868 |
|
NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
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G |
F2r |
coagulation factor II (thrombin) receptor |
|
IDA |
|
RGD |
PMID:9168786 |
RGD:1581034 |
NCBI chr 2:26,118,760...26,135,340
Ensembl chr 2:26,118,760...26,135,340
|
|
G |
F3 |
coagulation factor III, tissue factor |
treatment |
IEP |
|
RGD |
PMID:21423288 |
RGD:11341709 |
NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
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|
G |
F7 |
coagulation factor VII |
|
ISO IEP |
protein:increased activity:plasma (human) protein:increased activity:plasma (rat) |
RGD |
PMID:10450539, PMID:8123879, PMID:812575 |
RGD:2312402, RGD:2312412, RGD:2312323 |
NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
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|
G |
Fabp1 |
fatty acid binding protein 1 |
|
ISO |
possibly associated with arteriosclerosis (MeSH:D001161) |
RGD |
PMID:15830271 |
RGD:1626441 |
NCBI chr 4:99,063,181...99,066,957
Ensembl chr 4:99,063,181...99,066,954
|
|
G |
Fabp3 |
fatty acid binding protein 3 |
susceptibility |
ISO |
DNA:SNPs |
RGD |
PMID:18437121 |
RGD:2307331 |
NCBI chr 5:148,528,854...148,535,597
Ensembl chr 5:148,528,725...148,535,565
|
|
G |
Fadd |
Fas associated via death domain |
treatment |
IEP |
|
RGD |
PMID:24355328 |
RGD:11344883 |
NCBI chr 1:217,746,176...217,748,581
Ensembl chr 1:217,742,929...217,748,628
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|
G |
Fads1 |
fatty acid desaturase 1 |
|
IEP |
|
RGD |
PMID:12144877 |
RGD:1625415 |
NCBI chr 1:226,234,034...226,249,118
Ensembl chr 1:226,234,074...226,249,138
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|
G |
Fah |
fumarylacetoacetate hydrolase |
|
IEP |
mRNA:decreased expression:kidney |
RGD |
PMID:15731461 |
RGD:1559295 |
NCBI chr 1:146,713,663...146,736,339
Ensembl chr 1:146,713,676...146,736,261
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G |
Fbn1 |
fibrillin 1 |
|
IEP |
protein:increased expression:renal glomerulus (rat) |
RGD |
PMID:16380460 |
RGD:7365080 |
NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
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G |
Fgf2 |
fibroblast growth factor 2 |
|
IEP |
associated with Aortic Coarctation |
RGD |
PMID:17562191 |
RGD:8655614 |
NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
|
|
G |
Fgf21 |
fibroblast growth factor 21 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:29706566 |
|
NCBI chr 1:101,595,579...101,596,822
Ensembl chr 1:101,595,579...101,596,822
|
|
G |
Fmo3 |
flavin containing dimethylaniline monoxygenase 3 |
no_association |
ISO |
associated with trimethylaminuria, OMIM:602079 |
RGD |
PMID:9536088, PMID:16324215 |
RGD:1626461, RGD:1626466 |
NCBI chr13:80,837,418...80,856,214
Ensembl chr13:80,837,420...80,862,963
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G |
Fn1 |
fibronectin 1 |
|
ISO IEP IAGP |
CTD Direct Evidence: marker/mechanism mRNA:increased expression:kidney (SHRSP/A3N rat) |
CTD |
PMID:11682445 PMID:17324946, PMID:11907153, PMID:11682445 |
RGD:28912746, RGD:30296650 |
NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078
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G |
Fndc5 |
fibronectin type III domain containing 5 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:32165127 |
|
NCBI chr 5:147,323,240...147,330,266
Ensembl chr 5:147,323,240...147,330,266
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G |
Fos |
Fos proto-oncogene, AP-1 transcription factor subunit |
|
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12044476 PMID:24039778, PMID:16696897 |
RGD:7242185 |
NCBI chr 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
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G |
Foxp3 |
forkhead box P3 |
treatment |
IEP |
|
RGD |
PMID:24420551 |
RGD:38549366 |
NCBI chr X:15,753,175...15,768,648
Ensembl chr X:15,753,175...15,768,522
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G |
Fxyd2 |
FXYD domain-containing ion transport regulator 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22228705 |
|
NCBI chr 8:49,710,334...49,717,492
Ensembl chr 8:49,710,477...49,716,955
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G |
Gabbr1 |
gamma-aminobutyric acid type B receptor subunit 1 |
|
IEP |
mRNA:increased expression:brain |
RGD |
PMID:18338268 |
RGD:2315462 |
NCBI chr20:1,955,344...1,984,907
Ensembl chr20:1,955,359...1,984,863
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G |
Gad1 |
glutamate decarboxylase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32165127 |
|
NCBI chr 3:56,861,440...56,902,139
Ensembl chr 3:56,861,396...56,902,157
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G |
Gal |
galanin and GMAP prepropeptide |
|
IEP ISO |
mRNA:decreased expression:paraventricular hypothalamic nucleus, solitary tract nucleus CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10818254, PMID:15275958 |
RGD:1624333 |
NCBI chr 1:218,653,059...218,657,922
Ensembl chr 1:218,652,917...218,657,925
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G |
Gcg |
glucagon |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22228705 |
|
NCBI chr 3:48,442,635...48,451,650
Ensembl chr 3:48,442,635...48,451,650
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G |
Gch1 |
GTP cyclohydrolase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12855421 |
|
NCBI chr15:23,935,011...23,968,971
Ensembl chr15:23,934,585...23,969,011
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G |
Gck |
glucokinase |
susceptibility |
ISO |
|
RGD |
PMID:9324112 |
RGD:1581877 |
NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
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G |
Gclc |
glutamate-cysteine ligase, catalytic subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22228705 |
|
NCBI chr 8:85,059,051...85,097,471
Ensembl chr 8:85,059,051...85,097,468
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G |
Ghsr |
growth hormone secretagogue receptor |
|
ISO |
associated with Obesity |
RGD |
PMID:24760503 |
RGD:12910115 |
NCBI chr 2:113,065,953...113,071,265
Ensembl chr 2:113,066,885...113,070,261
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G |
Gja1 |
gap junction protein, alpha 1 |
treatment |
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16448880, PMID:16448880, PMID:23719203 |
RGD:7207810, RGD:8662439 |
NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
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G |
Gja4 |
gap junction protein, alpha 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16448880 |
|
NCBI chr 5:145,374,688...145,377,221
Ensembl chr 5:145,374,690...145,377,221
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G |
Gja5 |
gap junction protein, alpha 5 |
treatment |
IDA ISO IEP |
CTD Direct Evidence: marker/mechanism protein:decreased expression:artery endothelium |
CTD |
PMID:19109587, PMID:19686729, PMID:11821709 |
RGD:7207417, RGD:7207848 |
NCBI chr 2:199,162,745...199,184,942
Ensembl chr 2:199,162,745...199,184,939
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G |
Gjc1 |
gap junction protein, gamma 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:19109587 |
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NCBI chr10:90,781,408...90,912,440
Ensembl chr10:90,781,402...90,912,287
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G |
Glp1r |
glucagon-like peptide 1 receptor |
|
IDA ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22228705, PMID:12093887 |
RGD:625448 |
NCBI chr20:9,586,075...9,626,228
Ensembl chr20:9,586,075...9,626,228
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G |
Gnai2 |
G protein subunit alpha i2 |
treatment |
IMP IEP |
|
RGD |
PMID:27912212, PMID:15106810 |
RGD:13507308, RGD:13508592 |
NCBI chr 8:116,370,730...116,391,337
Ensembl chr 8:116,370,744...116,391,307
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G |
Gnai3 |
G protein subunit alpha i3 |
treatment |
IEP |
|
RGD |
PMID:15106810 |
RGD:13508592 |
NCBI chr 2:210,896,779...210,934,733
Ensembl chr 2:210,896,656...210,934,749
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G |
Gnas |
GNAS complex locus |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9506701, PMID:12215464, PMID:15118671 |
RGD:1580404, RGD:1331525 |
NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483 Ensembl chr 3:172,374,957...172,428,483
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G |
Gnb3 |
G protein subunit beta 3 |
susceptibility no_association |
ISO |
DNA:SNP:cds:825C>T (human) CTD Direct Evidence: marker/mechanism DNA:SNP:cds: 825C>T (human) DNA:polymorphism: :multiple (human) |
CTD |
PMID:15961981 PMID:16141801, PMID:10526907, PMID:11230982, PMID:16908025 |
RGD:1580410, RGD:1580408, RGD:2313206 |
NCBI chr 4:157,352,558...157,359,237
Ensembl chr 4:157,352,372...157,358,262
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G |
Gnrh1 |
gonadotropin releasing hormone 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6350720 |
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NCBI chr15:44,441,856...44,446,064
Ensembl chr15:44,442,555...44,442,875 Ensembl chr15:44,442,555...44,442,875
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G |
Gp1ba |
glycoprotein Ib platelet subunit alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22352330 |
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NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
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G |
Gpx1 |
glutathione peroxidase 1 |
treatment |
ISO IDA IEP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21593737, PMID:17198913, PMID:21210316, PMID:23752977 |
RGD:1600704, RGD:11353777, RGD:11352825 |
NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
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G |
Grk2 |
G protein-coupled receptor kinase 2 |
treatment |
IEP ISO |
protein:increased expression:lymphocyte, vascular associated smooth muscle cell CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11901213, PMID:10642272, PMID:23913704 |
RGD:1625788, RGD:13792716 |
NCBI chr 1:219,536,220...219,544,329
Ensembl chr 1:219,536,220...219,544,328
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G |
Grk3 |
G protein-coupled receptor kinase 3 |
|
IEP |
mRNA:increased expression:heart left ventricle, kidney (rat) |
RGD |
PMID:26248277 |
RGD:11535540 |
NCBI chr12:49,626,871...49,750,389
Ensembl chr12:49,626,871...49,746,272
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G |
Grk5 |
G protein-coupled receptor kinase 5 |
|
IEP |
mRNA:increased expression:heart left ventricle, kidney (rat) |
RGD |
PMID:26248277 |
RGD:11535540 |
NCBI chr 1:282,265,371...282,467,842
Ensembl chr 1:282,265,370...282,462,605
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G |
Gsk3b |
glycogen synthase kinase 3 beta |
treatment |
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22982863, PMID:22982863 |
RGD:10045670 |
NCBI chr11:65,060,884...65,208,842
Ensembl chr11:65,066,235...65,209,268
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G |
Gsr |
glutathione-disulfide reductase |
|
ISO |
|
RGD |
PMID:17198913 |
RGD:1600704 |
NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
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G |
Gsta5 |
glutathione S-transferase alpha 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22228705 |
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NCBI chr 8:85,553,659...85,564,914
Ensembl chr 8:85,553,734...85,565,179
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G |
Gstm1 |
glutathione S-transferase mu 1 |
|
IEP |
mRNA:decreased expression:kidney (rat) |
RGD |
PMID:15699453 |
RGD:7495838 |
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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G |
Gstm2 |
glutathione S-transferase mu 2 |
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IEP |
mRNA:decreased expression:kidney (rat) |
RGD |
PMID:18008142, PMID:12624007 |
RGD:2302178, RGD:631154 |
NCBI chr 2:210,778,041...210,782,807
Ensembl chr 2:210,720,704...210,782,856
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G |
Gstp1 |
glutathione S-transferase pi 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24915237 |
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NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
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G |
Gstt1 |
glutathione S-transferase theta 1 |
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ISO |
associated with scleroderma, systemic;DNA:deletion: : CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22228705, PMID:11477481 |
RGD:5490587 |
NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
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G |
Gstt2 |
glutathione S-transferase, theta 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22228705 |
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NCBI chr20:13,760,810...13,764,481
Ensembl chr20:13,760,810...13,764,475
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G |
Gucy1a1 |
guanylate cyclase 1 soluble subunit alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18339647 |
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NCBI chr 2:181,045,694...181,103,321
Ensembl chr 2:181,045,703...181,102,918
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G |
H2ax |
H2A.X variant histone |
treatment |
IDA |
|
RGD |
PMID:24239235 |
RGD:8693672 |
NCBI chr 8:48,665,652...48,666,981
Ensembl chr 8:48,665,652...48,666,981
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G |
Havcr1 |
hepatitis A virus cellular receptor 1 |
|
IEP |
protein:increased expression:urine |
RGD |
PMID:23085980 |
RGD:7245484 |
NCBI chr10:31,813,819...31,860,934
Ensembl chr10:31,813,814...31,848,379
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G |
Hdac6 |
histone deacetylase 6 |
|
IEP |
protein:increased expression, activity:heart: |
RGD |
PMID:23868068 |
RGD:9681716 |
NCBI chr X:15,295,372...15,316,673
Ensembl chr X:15,295,473...15,316,671
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G |
Hdac8 |
histone deacetylase 8 |
|
IEP |
protein:decreased expression:heart (mouse, rat) |
RGD |
PMID:28567090 |
RGD:13208602 |
NCBI chr X:72,163,777...72,370,058
Ensembl chr X:72,163,777...72,370,044
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G |
Hgf |
hepatocyte growth factor |
susceptibility |
ISO |
DNA:polymorphism:intron13:C/A |
RGD |
PMID:15127882, PMID:15127882 |
RGD:1642064, RGD:1642064 |
NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
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G |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
|
ISO IEP |
Hypertension, Pregnancy-Induced;mRNA, protein:increased expression:placenta CTD Direct Evidence: therapeutic associated with Hypercholesterolemia;protein:increased expression:aorta protein:increased expression:brain |
CTD |
PMID:22349312, PMID:15862159, PMID:11882589, PMID:16955051 |
RGD:1626322, RGD:1626330, RGD:1626317 |
NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
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G |
Hmgb1 |
high mobility group box 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32147540 |
|
NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
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G |
Hmox1 |
heme oxygenase 1 |
susceptibility treatment |
ISO IDA |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:16959961 PMID:22349312 PMID:22352330, PMID:12872043, PMID:20836698, PMID:12215473 |
RGD:1598400, RGD:10755717, RGD:1580453 |
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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G |
Hp |
haptoglobin |
susceptibility onset |
ISO IEP |
DNA:polymorphism CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16597321, PMID:7606649, PMID:23401751, PMID:8228210 |
RGD:1626351, RGD:7241867, RGD:1626352 |
NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
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G |
Hrh2 |
histamine receptor H 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30310171 |
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NCBI chr17:10,912,959...10,931,389
Ensembl chr17:10,921,507...10,952,441
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G |
Hrh3 |
histamine receptor H3 |
|
IDA ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9050021, PMID:9050021 |
RGD:1626409 |
NCBI chr 3:175,474,310...175,479,395
Ensembl chr 3:175,473,078...175,479,395
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G |
Hsd11b1 |
hydroxysteroid 11-beta dehydrogenase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9683905 PMID:15199296 PMID:21786805 |
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NCBI chr13:111,946,626...111,996,536
Ensembl chr13:111,926,442...111,972,603
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G |
Hsd11b2 |
hydroxysteroid 11-beta dehydrogenase 2 |
|
IEP ISO |
associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:kidney CTD Direct Evidence: marker/mechanism apparent mineralocorticoid excess syndrome, OMIM:218030 |
CTD |
PMID:7670488 PMID:9683905 PMID:9707624 PMID:11082157, PMID:10792625, PMID:9683587 |
RGD:2308925, RGD:1625078 |
NCBI chr19:37,476,083...37,481,326
Ensembl chr19:37,476,095...37,481,307
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G |
Hsd17b4 |
hydroxysteroid (17-beta) dehydrogenase 4 |
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IEP |
mRNA:decreased expression:renal cortex (rat) |
RGD |
PMID:18430809 |
RGD:2292646 |
NCBI chr18:44,810,462...44,897,677
Ensembl chr18:44,810,388...44,897,640
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G |
Hsd3b1 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 |
susceptibility |
IEP ISO |
mRNA:decreased expression:ovary (rat) DNA:polymorphism:exon |
RGD |
PMID:19228890, PMID:12054649 |
RGD:4761326, RGD:1626438 |
|
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G |
Hsd3b2 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
|
IEP |
mRNA:increased expression:hypothalamus (rat) |
RGD |
PMID:16116051 |
RGD:1599701 |
NCBI chr 2:200,712,895...200,722,429
Ensembl chr 2:202,341,422...202,350,929
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G |
Hspa8 |
heat shock protein family A (Hsp70) member 8 |
|
ISO |
mRNA: increased expression: leukocyte |
RGD |
PMID:17341625 |
RGD:6480224 |
NCBI chr 8:44,989,401...44,993,261
Ensembl chr 8:44,990,014...44,993,179
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G |
Hspd1 |
heat shock protein family D (Hsp60) member 1 |
|
IEP |
mRNA:increased expression:brain, blood vessel |
RGD |
PMID:15729290, PMID:18948349 |
RGD:1624213, RGD:10402862 |
NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
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G |
Hspg2 |
heparan sulfate proteoglycan 2 |
|
IEP |
mRNA:increased expression:aorta |
RGD |
PMID:8225534 |
RGD:1624258 |
NCBI chr 5:155,812,096...155,913,751
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G |
Htr1b |
5-hydroxytryptamine receptor 1B |
|
IEP |
protein:increased expression:aorta |
RGD |
PMID:11882579 |
RGD:1626447 |
NCBI chr 8:89,113,984...89,130,830
Ensembl chr 8:89,129,453...89,130,991
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G |
Htr2a |
5-hydroxytryptamine receptor 2A |
susceptibility no_association |
ISO |
DNA:polymorphism: :102T>C DNA:polymorphism: :g.102T>C |
RGD GAD |
PMID:11378836, PMID:15118671, PMID:15659047 |
RGD:1624375, RGD:1331525, RGD:1624371 |
NCBI chr15:56,666,152...56,732,469
Ensembl chr15:56,666,012...56,735,382
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G |
Htr2b |
5-hydroxytryptamine receptor 2B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8627522 |
|
NCBI chr 9:93,112,781...93,130,135
Ensembl chr 9:93,112,805...93,125,014
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G |
Htra1 |
HtrA serine peptidase 1 |
|
ISO |
associated with Macular Degeneration; DNA:snp:cds:g.102C>T (rs1049331) (human) |
RGD |
PMID:21682878 |
RGD:7394697 |
NCBI chr 1:201,499,067...201,548,508
Ensembl chr 1:201,499,028...201,548,513
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G |
Icam1 |
intercellular adhesion molecule 1 |
|
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12149661 PMID:12425201, PMID:18619052 |
RGD:2312765 |
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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G |
Ier3 |
immediate early response 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20713914 |
|
NCBI chr20:3,438,798...3,440,002
Ensembl chr20:3,438,798...3,440,769
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G |
Igf1 |
insulin-like growth factor 1 |
severity |
ISO IEP IAGP |
mRNA:increased expression:aorta (rat) CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:19502719 PMID:22228705, PMID:16431135, PMID:8418983, PMID:15996002 |
RGD:1598427, RGD:12904968, RGD:1580474 |
NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
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G |
Igf1r |
insulin-like growth factor 1 receptor |
|
IEP |
protein:increased expression:aorta: |
RGD |
PMID:21854769 |
RGD:10046007 |
NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
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G |
Igfbp2 |
insulin-like growth factor binding protein 2 |
|
IEP |
mRNA, protein:decreased expression:liver, plasma |
RGD |
PMID:9396554 |
RGD:1626482 |
NCBI chr 9:80,118,029...80,144,804
Ensembl chr 9:80,118,029...80,144,789
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G |
Ikbkb |
inhibitor of nuclear factor kappa B kinase subunit beta |
treatment |
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27659729 PMID:32147540, PMID:19246475 |
RGD:7495780 |
NCBI chr16:74,177,233...74,230,809
Ensembl chr16:74,177,215...74,230,815
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G |
Il10 |
interleukin 10 |
|
IEP |
|
RGD |
PMID:19398662 |
RGD:2311047 |
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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G |
Il1b |
interleukin 1 beta |
|
IEP ISO IDA |
mRNA, protein:increased expression:aorta, plasma CTD Direct Evidence: marker/mechanism associated with Obesity;protein:increased expression:plasma |
CTD |
PMID:27292124 PMID:27659729 PMID:27847271 PMID:32147540 PMID:32165127, PMID:15894892, PMID:21173343, PMID:15990729 |
RGD:1626635, RGD:7175338, RGD:1626638 |
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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G |
Il1rn |
interleukin 1 receptor antagonist |
susceptibility |
IDA ISO |
DNA:polymorphisms |
RGD |
PMID:11585563, PMID:11840488 |
RGD:1626668, RGD:1626667 |
NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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G |
Il6 |
interleukin 6 |
susceptibility |
ISO |
associated with end stage renal disease; DNA:polymorphisms:promoter: -174G>C (human) CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) |
CTD |
PMID:27292124 PMID:27659729 PMID:27847271 PMID:32147540 PMID:32165127, PMID:12846758, PMID:19043252 |
RGD:1580485, RGD:2307283 |
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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G |
Il6r |
interleukin 6 receptor |
severity |
ISO |
Hypertension, Pregnancy-Induced;protein:increased expression:serum |
RGD |
PMID:11778537 |
RGD:1625432 |
NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
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G |
Il6st |
interleukin 6 cytokine family signal transducer |
severity |
ISO |
Hypertension, Pregnancy-Induced;protein:increased expression:serum |
RGD |
PMID:11778537 |
RGD:1625432 |
NCBI chr 2:44,279,199...44,319,427
Ensembl chr 2:44,289,393...44,314,944
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G |
Inppl1 |
inositol polyphosphate phosphatase-like 1 |
|
ISO |
DNA:SNPs: :rs2276047,snp8,rs9886(human) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15220217, PMID:15220217 |
RGD:1626127 |
NCBI chr 1:166,898,177...166,912,524
Ensembl chr 1:166,899,894...166,912,524
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G |
Ins2 |
insulin 2 |
|
IDA ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:9719048 PMID:18360027, PMID:9095092 |
RGD:6902896 |
NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
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G |
Itga9 |
integrin subunit alpha 9 |
susceptibility |
ISO |
DNA:SNP: :rs155524(human) |
RGD |
PMID:20479155 |
RGD:13602005 |
NCBI chr 8:127,271,029...127,576,709
Ensembl chr 8:127,271,289...127,572,988
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G |
Itgav |
integrin subunit alpha V |
|
IEP |
protein:increased expression:artery |
RGD |
PMID:16380536 |
RGD:1627642 |
NCBI chr 3:71,113,269...71,205,958
Ensembl chr 3:71,114,100...71,202,411
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G |
Itm2b |
integral membrane protein 2B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22228705 |
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NCBI chr15:55,254,703...55,277,713
Ensembl chr15:55,254,706...55,277,713
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G |
Jun |
Jun proto-oncogene, AP-1 transcription factor subunit |
|
IDA ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24039778, PMID:11358932 |
RGD:10047414 |
NCBI chr 5:114,011,184...114,014,277
Ensembl chr 5:114,011,189...114,014,277
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G |
Kcna5 |
potassium voltage-gated channel subfamily A member 5 |
|
IEP |
mRNA:increased expression:heart |
RGD |
PMID:11358947 |
RGD:1627659 |
NCBI chr 4:159,077,195...159,079,003
Ensembl chr 4:159,077,195...159,079,003
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G |
Kcnab1 |
potassium voltage-gated channel subfamily A member regulatory beta subunit 1 |
|
IEP |
mRNA:increased expression:aorta, arteries (rat) |
RGD |
PMID:11358947 |
RGD:1627659 |
NCBI chr 2:155,555,798...156,011,438
Ensembl chr 2:155,718,359...156,009,526
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G |
Kcnj1 |
potassium inwardly-rectifying channel, subfamily J, member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22228705 |
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NCBI chr 8:33,490,280...33,519,127
Ensembl chr 8:33,514,042...33,518,165
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G |
Kcnj11 |
potassium inwardly-rectifying channel, subfamily J, member 11 |
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IEP |
|
RGD |
PMID:15964031 |
RGD:1598644 |
NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
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G |
Kcnj8 |
potassium inwardly-rectifying channel, subfamily J, member 8 |
|
IDA |
|
RGD |
PMID:16051697 |
RGD:1581698 |
NCBI chr 4:176,783,287...176,789,143
Ensembl chr 4:176,782,498...176,789,304
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G |
Kcnmb1 |
potassium calcium-activated channel subfamily M regulatory beta subunit 1 |
|
IDA ISO IEP |
CTD Direct Evidence: marker/mechanism mRNA, protein:increased expression:aorta, mesenteric artery |
CTD |
PMID:17700361, PMID:14551242, PMID:16814121, PMID:16293791 |
RGD:1298970, RGD:10412046, RGD:1581718 |
NCBI chr10:18,910,586...18,922,856
Ensembl chr10:18,906,010...18,919,639
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G |
Kcnq1 |
potassium voltage-gated channel subfamily Q member 1 |
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IAGP |
DNA:deletion:exon (rat) |
RGD |
PMID:16368876 |
RGD:1581602 |
NCBI chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
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G |
Kcnq1dfk |
potassium voltage-gated channel subfamily Q member 1;deafness Kyoto |
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IAGP |
|
RGD |
PMID:16368876 |
RGD:1581602 |
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G |
Kdr |
kinase insert domain receptor |
treatment |
IEP ISO |
DNA:polymorphism:cds:p.H472Q(human) |
RGD |
PMID:15838270, PMID:20630084 |
RGD:5684418, RGD:8552374 |
NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
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G |
Kl |
Klotho |
treatment |
IDA IEP ISO |
mRNA,protein:decreased expression:kidney: |
RGD |
PMID:10892340, PMID:21051829, PMID:23225045 |
RGD:1581732, RGD:10403063, RGD:10403062 |
NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
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G |
Klk1 |
kallikrein 1 |
no_association susceptibility |
ISO IEP |
DNA:polymorphisms CTD Direct Evidence: therapeutic mRNA:decreased expression:kidney |
RGD CTD |
PMID:14568997 PMID:15905889, PMID:15167446, PMID:15809361 |
RGD:1641795, RGD:1581751, RGD:1358144 |
NCBI chr 1:100,131,562...100,135,556
Ensembl chr 1:100,059,967...100,203,329 Ensembl chr 1:100,059,967...100,203,329 Ensembl chr 1:100,059,967...100,203,329
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G |
Klk1b3 |
kallikrein 1-related peptidase B3 |
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IAGP |
|
RGD |
PMID:15809361 |
RGD:1358144 |
NCBI chr 1:100,199,057...100,203,260
Ensembl chr 1:100,059,967...100,203,329
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G |
Klk1c12 |
kallikrein 1-related peptidase C12 |
|
ISO |
DNA:polymorphisms |
RGD |
PMID:15905889, PMID:17272402 |
RGD:1641795, RGD:1641794 |
NCBI chr 1:99,298,965...99,303,048
Ensembl chr 1:99,299,011...99,303,048
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G |
Klkb1 |
kallikrein B1 |
|
ISO |
associated with Diabetes Mellitus, Type 1; protein:increased expression:plasma: |
RGD |
PMID:12716755 |
RGD:7327151 |
NCBI chr16:50,151,127...50,175,407
Ensembl chr16:50,152,008...50,175,458
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G |
Kng2 |
kininogen 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7027322 |
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NCBI chr11:81,509,185...81,516,759
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G |
Kras |
KRAS proto-oncogene, GTPase |
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ISO |
|
RGD |
PMID:15864294 |
RGD:1581757 |
NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
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G |
Kynu |
kynureninase |
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IAGP |
|
RGD |
PMID:11924719 |
RGD:631322 |
NCBI chr 3:28,416,926...28,566,939
Ensembl chr 3:28,416,954...28,566,928
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G |
Lep |
leptin |
|
ISO IDA |
DNA:SNPs: : CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12050272 PMID:16827954 PMID:25205467 PMID:27226618, PMID:19204185, PMID:20059648 |
RGD:5128788, RGD:5128597 |
NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
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G |
Lepr |
leptin receptor |
disease_progression |
ISO IMP |
DNA:polymorphisms:exons CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22949526, PMID:10999797, PMID:27465994 |
RGD:5129161, RGD:12911217 |
NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
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G |
Leprem2Mcwi |
leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin |
disease_progression |
IMP |
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RGD |
PMID:27465994 |
RGD:12911217 |
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G |
Lgals3 |
galectin 3 |
treatment |
IEP |
|
RGD |
PMID:23117656 |
RGD:9685203 |
NCBI chr15:24,153,602...24,165,537
Ensembl chr15:24,141,651...24,165,537
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G |
Lhb |
luteinizing hormone subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6350720 |
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NCBI chr 1:101,409,992...101,413,725
Ensembl chr 1:101,410,019...101,413,724
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G |
Lipe |
lipase E, hormone sensitive type |
|
ISO |
gestational hypertension;DNA:polymorphism:promoter:-60C>G |
RGD |
PMID:17318300 |
RGD:1625026 |
NCBI chr 1:82,248,031...82,266,727
Ensembl chr 1:82,248,046...82,266,727
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G |
Lipg |
lipase G, endothelial type |
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IDA |
|
RGD |
PMID:15914124 |
RGD:1581875 |
NCBI chr18:70,903,528...70,924,434
Ensembl chr18:70,901,710...70,924,708
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G |
Lox |
lysyl oxidase |
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ISO IDA |
|
RGD |
PMID:8562290, PMID:24127 |
RGD:1581896, RGD:1581899 |
NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819
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G |
Lpl |
lipoprotein lipase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22228705, PMID:16132104 |
RGD:1580535 |
NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
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G |
Lrp2 |
LDL receptor related protein 2 |
|
IDA |
protein:altered localization:apical plasma membrane |
RGD |
PMID:10919857 |
RGD:1641827 |
NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551
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G |
Lta |
lymphotoxin alpha |
no_association |
ISO |
|
RGD |
PMID:15533732 |
RGD:1580415 |
NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
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G |
Ltf |
lactotransferrin |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:24587916 |
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NCBI chr 8:119,290,416...119,313,261
Ensembl chr 8:119,290,416...119,313,261
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G |
Map1lc3a |
microtubule-associated protein 1 light chain 3 alpha |
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IEP |
|
RGD |
PMID:23499735 |
RGD:11561939 |
NCBI chr 3:150,801,289...150,802,935
Ensembl chr 3:150,801,289...150,802,935
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G |
Mapk8 |
mitogen-activated protein kinase 8 |
|
IDA |
|
RGD |
PMID:15302844 |
RGD:1582315 |
NCBI chr16:9,620,854...9,709,342
Ensembl chr16:9,625,177...9,709,347
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G |
Mas1 |
MAS1 proto-oncogene, G protein-coupled receptor |
|
IMP |
associated with Sleep Apnea Syndromes |
RGD |
PMID:21040717 |
RGD:5129169 |
NCBI chr 1:48,076,761...48,108,218
Ensembl chr 1:48,077,033...48,108,216
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G |
Mc2r |
melanocortin 2 receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11082157 |
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NCBI chr18:64,166,959...64,178,729
Ensembl chr18:64,167,191...64,177,729
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G |
Mdh1 |
malate dehydrogenase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22228705 |
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NCBI chr14:106,378,349...106,393,642
Ensembl chr14:106,378,942...106,393,670
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G |
Mfn2 |
mitofusin 2 |
treatment |
IEP |
protein:decreased expression:aorta (rat) |
RGD |
PMID:27847271, PMID:25464244 |
RGD:12910764, RGD:13204764 |
NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
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G |
Mif |
macrophage migration inhibitory factor |
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IDA |
|
RGD |
PMID:19799867 |
RGD:4890974 |
NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
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G |
Mir214 |
microRNA 214 |
treatment |
IMP |
|
RGD |
PMID:30049682 |
RGD:38500245 |
NCBI chr13:80,130,905...80,131,014
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G |
Mme |
membrane metallo-endopeptidase |
treatment |
IMP |
|
RGD |
PMID:12011651 |
RGD:13801039 |
NCBI chr 2:153,799,203...153,880,910
Ensembl chr 2:153,803,349...153,880,738
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G |
Mmp1 |
matrix metallopeptidase 1 |
|
ISO |
protein:decreased expression:renal glomerulus (human) |
RGD |
PMID:15363819, PMID:19506087 |
RGD:1582532, RGD:2312464 |
NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
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G |
Mmp2 |
matrix metallopeptidase 2 |
|
IEP ISO |
mRNA, protein:increased expression:kidney CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18836702, PMID:17977875, PMID:16840178 |
RGD:2290351, RGD:1582612 |
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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G |
Mmp7 |
matrix metallopeptidase 7 |
treatment |
IMP IEP |
|
RGD |
PMID:19398663, PMID:19398663 |
RGD:9685347, RGD:9685347 |
NCBI chr 8:5,893,253...5,900,965
Ensembl chr 8:5,893,249...5,901,049
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G |
Mmp9 |
matrix metallopeptidase 9 |
susceptibility |
ISO IEP |
protein:decreased expression:internal mammary artery CTD Direct Evidence: marker/mechanism associated with Aneurysm, Dissecting;DNA:polymorphism:promoter:-1562C>T |
CTD |
PMID:21051829, PMID:15363819, PMID:16780738, PMID:16840178, PMID:17977875 |
RGD:1582532, RGD:1642029, RGD:1582612, RGD:2290351 |
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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G |
Mov10 |
Mov10 RISC complex RNA helicase |
susceptibility |
ISO |
DNA:SNP: :rs2932538(human) |
RGD |
PMID:24338417 |
RGD:13513987 |
NCBI chr 2:207,277,088...207,301,245
Ensembl chr 2:207,278,161...207,300,854
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G |
Moxd2 |
monooxygenase, DBH-like 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:3814904 |
|
NCBI chr 4:69,117,477...69,125,972
Ensembl chr 4:69,117,477...69,125,972
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G |
Msx2 |
msh homeobox 2 |
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IEP |
|
RGD |
PMID:18270471 |
RGD:5132616 |
NCBI chr17:11,683,862...11,689,527
Ensembl chr17:11,683,862...11,689,527
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G |
Mtor |
mechanistic target of rapamycin kinase |
|
IDA ISO |
protein:increased serine phosphorylation:kidney CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19289642, PMID:23323219 |
RGD:10041025 |
NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
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G |
Mtpn |
myotrophin |
|
IEP IDA |
|
RGD |
PMID:12419325, PMID:12031792 |
RGD:632799, RGD:1581046 |
NCBI chr 4:63,012,009...63,039,422
Ensembl chr 4:63,012,011...63,039,422
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G |
Mtr |
5-methyltetrahydrofolate-homocysteine methyltransferase |
|
ISO |
|
RGD |
PMID:15148588 |
RGD:1581050 |
NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
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G |
Mttp |
microsomal triglyceride transfer protein |
onset |
ISO |
DNA:polymorphism:promoter:-493G>T |
RGD |
PMID:16328015 |
RGD:1625485 |
NCBI chr 2:243,366,181...243,407,608
Ensembl chr 2:243,366,181...243,407,608
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G |
Mybph |
myosin binding protein H |
|
IAGP |
DNA:missense mutations:cds:p.I?T, p.R?K (rat) |
RGD |
PMID:23460292 |
RGD:12802369 |
NCBI chr13:51,034,228...51,041,903
Ensembl chr13:51,034,256...51,041,902
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G |
Myd88 |
MYD88, innate immune signal transduction adaptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27292124 |
|
NCBI chr 8:128,022,512...128,027,462
Ensembl chr 8:128,022,473...128,026,841
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G |
Myh7 |
myosin heavy chain 7 |
|
IEP ISO |
protein:decreased expression:heart left ventricle, arteriole CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32147540, PMID:9686760 |
RGD:9835388 |
NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
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G |
Myo6 |
myosin VI |
|
IDA |
protein:altered localization:renal proximal tubule, microvillus |
RGD |
PMID:16107581 |
RGD:2314963 |
NCBI chr 8:87,583,649...87,731,271
Ensembl chr 8:87,630,916...87,731,269
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G |
Myod1 |
myogenic differentiation 1 |
|
IEP |
mRNA:decreased expression:gastrocnemius |
RGD |
PMID:22076133 |
RGD:9686076 |
NCBI chr 1:102,396,538...102,399,248
Ensembl chr 1:102,396,538...102,399,248
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G |
Ncf1 |
neutrophil cytosolic factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16331104 PMID:17324946 PMID:19018797 PMID:32165127 |
|
NCBI chr12:25,497,104...25,506,300
Ensembl chr12:25,497,104...25,506,300
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G |
Ncf2 |
neutrophil cytosolic factor 2 |
|
IEP |
protein:increased expression:heart left ventricle |
RGD |
PMID:19307699 |
RGD:2314430 |
NCBI chr13:70,226,441...70,259,019
Ensembl chr13:70,226,647...70,257,576
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G |
Nedd4l |
NEDD4 like E3 ubiquitin protein ligase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18524855 PMID:23348737 |
|
NCBI chr18:60,392,376...60,719,720
Ensembl chr18:60,392,376...60,719,720
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G |
Nfe2l2 |
nuclear factor, erythroid 2-like 2 |
treatment |
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32165127, PMID:23775684 |
RGD:10412717 |
NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
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G |
Nfkbia |
NFKB inhibitor alpha |
treatment |
IEP |
|
RGD |
PMID:19246475 |
RGD:7495780 |
NCBI chr 6:76,267,227...76,270,457
Ensembl chr 6:76,267,228...76,270,457
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G |
Ngf |
nerve growth factor |
|
IEP |
|
RGD |
PMID:10797303 |
RGD:5144109 |
NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
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G |
Ngfr |
nerve growth factor receptor |
|
IAGP |
DNA,protein:missense mutation:CDS:c.28G>A, p.A10T (rat strains: SHR/Izm, SHRSP/Izm, WKHT) |
RGD |
PMID:8762194 |
RGD:5508800 |
NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
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G |
Nisch |
nischarin |
|
IMP |
|
RGD |
PMID:12021582 |
RGD:1581128 |
NCBI chr16:7,254,372...7,290,670
Ensembl chr16:7,254,974...7,290,561
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G |
Nos1 |
nitric oxide synthase 1 |
treatment |
IEP IDA IMP |
mRNA:decreased expression:bladder, penis |
RGD |
PMID:17574276, PMID:23201071, PMID:15913838, PMID:16093913, PMID:15775788, PMID:20494920 |
RGD:1642127, RGD:7257668, RGD:1581142, RGD:1581141, RGD:1581143, RGD:5132600 |
NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
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|
G |
Nos2 |
nitric oxide synthase 2 |
|
IEP ISO |
protein:increased expression, increased activity:kidney CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18605955 PMID:25101153 PMID:27292124, PMID:15773227, PMID:11702222 |
RGD:1580264, RGD:1298023 |
NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
|
|
G |
Nos3 |
nitric oxide synthase 3 |
treatment no_association |
IEP IDA ISO |
associated with Pregnancy Complications CTD Direct Evidence: marker/mechanism|therapeutic DNA:duplication, snp:intron, cds:IVS4?-?+27, p.E298D (human) DNA:snp:cds:p.E298D (human) protein:decreased phosphorylation:brain |
CTD |
PMID:11457755 PMID:12947532 PMID:16331104 PMID:19008412 PMID:19407804, PMID:18047920, PMID:29285068, PMID:29084084, PMID:10981549, PMID:11882615, PMID:9674630, PMID:20813549 |
RGD:2292113, RGD:13504683, RGD:13446414, RGD:1580278, RGD:1580271, RGD:1580282, RGD:4891993 |
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
|
|
G |
Nox4 |
NADPH oxidase 4 |
|
IEP ISO IMP |
protein:increased expression:aorta, vascular associated smooth muscle cell CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27659729 PMID:27847271 PMID:32147540, PMID:18418428, PMID:26644237 |
RGD:2324669, RGD:11085830 |
NCBI chr 1:150,796,359...150,976,186
Ensembl chr 1:150,797,084...150,976,194
|
|
G |
Nppa |
natriuretic peptide A |
|
IEP ISO |
protein:increased expression:plasma: CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:2526952 PMID:7839143 PMID:8188982 PMID:9869009 PMID:12940879 PMID:19219041 PMID:24039778 PMID:32147540, PMID:20139323 |
RGD:7248593 |
NCBI chr 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705
|
|
G |
Nppb |
natriuretic peptide B |
treatment susceptibility |
IEP ISO IDA |
CTD Direct Evidence: marker/mechanism|therapeutic DNA:repeats |
CTD |
PMID:9194512 PMID:19219041 PMID:24039778 PMID:30310171 PMID:32147540, PMID:11897768, PMID:21403100, PMID:17554401 |
RGD:70484, RGD:5685657, RGD:1642191 |
NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
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|
G |
Nppc |
natriuretic peptide C |
severity |
ISO |
associated with Pregnancy Complications;protein:increased expression:plasma |
RGD |
PMID:11775888, PMID:12452325 |
RGD:1642292, RGD:1580150 |
NCBI chr 9:93,731,436...93,735,636
Ensembl chr 9:93,731,436...93,735,636
|
|
G |
Npr1 |
natriuretic peptide receptor 1 |
|
IAGP ISO |
DNA:repeat:promoter: (rat) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20881240, PMID:12511524 |
RGD:628585 |
NCBI chr 2:189,840,403...189,857,032
Ensembl chr 2:189,840,403...189,856,090
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|
G |
Npr3 |
natriuretic peptide receptor 3 |
|
ISO |
DNA:snp:promoter:g.-55C>A (human) |
RGD |
PMID:12872042 |
RGD:1580175 |
NCBI chr 2:61,883,946...61,950,291
Ensembl chr 2:61,888,950...61,949,926
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|
G |
Nptn |
neuroplastin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22228705 |
|
NCBI chr 8:63,379,062...63,445,694
Ensembl chr 8:63,379,087...63,445,686
|
|
G |
Npy |
neuropeptide Y |
|
IMP IEP ISO |
DNA:missense mutation:cds:p.L7P (human) |
RGD |
PMID:15699473, PMID:18835922, PMID:11689216 |
RGD:1357410, RGD:10448968, RGD:1580177 |
NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097
|
|
G |
Npy1r |
neuropeptide Y receptor Y1 |
|
IMP |
|
RGD |
PMID:15699473 |
RGD:1357410 |
NCBI chr16:24,779,480...24,789,131
Ensembl chr16:24,779,477...24,788,740
|
|
G |
Nqo1 |
NAD(P)H quinone dehydrogenase 1 |
treatment |
IDA |
|
RGD |
PMID:21502369 |
RGD:11035215 |
NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
|
|
G |
Nr2f2 |
nuclear receptor subfamily 2, group F, member 2 |
|
IMP |
|
RGD |
PMID:25687237 |
RGD:10401852 |
NCBI chr 1:131,447,671...131,465,749
Ensembl chr 1:131,448,447...131,460,473
|
|
G |
Nr2f2em1Mcwi |
nuclear receptor subfamily 2, group F, member 2; zinc finger nuclease induced mutant 1, Medical College of Wisconsin |
|
IMP |
|
RGD |
PMID:25687237 |
RGD:10401852 |
|
|
G |
Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
|
IMP ISO |
associated with fetal nutrition disorder CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18434569 PMID:20659135, PMID:20674672, PMID:20659135 |
RGD:4892208, RGD:7174714 |
NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
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|
G |
Nudt1 |
nudix hydrolase 1 |
|
IEP |
|
RGD |
PMID:17280880 |
RGD:10449166 |
NCBI chr12:16,391,578...16,398,771
Ensembl chr12:16,391,578...16,395,029
|
|
G |
Olr1 |
oxidized low density lipoprotein receptor 1 |
|
IEP ISO |
mRNA:increased expression:aorta (rat) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22352330, PMID:9494115 |
RGD:633385 |
NCBI chr 4:163,239,853...163,261,937
Ensembl chr 4:163,239,849...163,261,958
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|
G |
Opa1 |
OPA1, mitochondrial dynamin like GTPase |
|
IEP |
protein:increased expression:heart left ventricle (rat) |
RGD |
PMID:24388463 |
RGD:7800726 |
NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
|
|
G |
Orai1 |
ORAI calcium release-activated calcium modulator 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19897708 |
|
NCBI chr12:38,981,903...38,995,570
Ensembl chr12:38,981,927...38,995,570
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|
G |
Oxsr1 |
oxidative stress responsive kinase 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:22949526 |
|
NCBI chr 8:127,920,349...128,009,951
Ensembl chr 8:127,920,349...128,009,951
|
|
G |
Oxt |
oxytocin/neurophysin I prepropeptide |
|
IMP ISO IEP |
CTD Direct Evidence: therapeutic mRNA:decreased expression:paraventricular hypothalamic nucleus |
CTD |
PMID:9334988 PMID:18562099, PMID:18562099, PMID:16157794 |
RGD:2304105, RGD:2304174 |
NCBI chr 3:123,106,694...123,107,534
Ensembl chr 3:123,106,694...123,107,534
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|
G |
Oxtr |
oxytocin receptor |
|
IEP |
mRNA:decreased expression:brainstem |
RGD |
PMID:16157794 |
RGD:2304174 |
NCBI chr 4:144,399,326...144,417,598
Ensembl chr 4:144,403,358...144,416,116
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|
G |
Pappa1 |
pappalysin 1 |
|
ISO |
associated with Pregnancy Complications, Cardiovascular;protein:decreased expression:serum |
RGD |
PMID:12224070 |
RGD:1642331 |
NCBI chr 5:80,919,932...81,153,904
Ensembl chr 5:80,920,568...81,150,940
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|
G |
Pdgfb |
platelet derived growth factor subunit B |
|
IEP |
|
RGD |
PMID:8869081 |
RGD:10449484 |
NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
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|
G |
Pdgfra |
platelet derived growth factor receptor alpha |
|
IEP |
|
RGD |
PMID:1657776 |
RGD:11080972 |
NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
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|
G |
Pdgfrb |
platelet derived growth factor receptor beta |
|
IEP |
protein:increased tyrosine phosphorylation:glomerulus |
RGD |
PMID:12047046, PMID:1657776 |
RGD:2292214, RGD:11080972 |
NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
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|
G |
Pgf |
placental growth factor |
|
ISO |
associated with Pregnancy Complications, Cardiovascular;mRNA:decreased expression:placenta |
RGD |
PMID:12808329 |
RGD:1642387 |
NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
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|
G |
Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
|
IEP IMP |
protein:decreased expression:ventricular myocyte (rat) |
RGD |
PMID:18300869, PMID:19015400 |
RGD:4108492, RGD:4108483 |
NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
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|
G |
Pin1 |
peptidylprolyl cis/trans isomerase, NIMA-interacting 1 |
|
ISO |
|
RGD |
PMID:21810655 |
RGD:8693428 |
NCBI chr 8:21,669,236...21,680,615
Ensembl chr 8:21,669,236...21,680,615
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|
G |
Pkd1 |
polycystin 1, transient receptor potential channel interacting |
|
ISO |
ClinVar Annotator: match by term: Hypertension |
ClinVar |
PMID:11115377 PMID:12482949 PMID:16430766 PMID:17574468 PMID:17582161 PMID:22508176 PMID:23064367 PMID:23431072 PMID:23760289 PMID:24694054 PMID:25741868 PMID:26467025 PMID:26632257 PMID:26950445 PMID:27499327 PMID:29801666 PMID:30333007 PMID:31056860 PMID:31738409 PMID:32203225 |
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NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008
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|
G |
Plat |
plasminogen activator, tissue type |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22352330 |
|
NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
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|
G |
Plcd1 |
phospholipase C, delta 1 |
|
IEP IDA |
protein:increased expression:aorta, arteriole, glomerulus protein:increased activity:aorta |
RGD |
PMID:17198910, PMID:1313006 |
RGD:2300421, RGD:2300423 |
NCBI chr 8:127,753,514...127,782,070
Ensembl chr 8:127,753,539...127,782,070
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|
G |
Plekha7 |
pleckstrin homology domain containing A7 |
|
IMP |
|
RGD |
PMID:25136115 |
RGD:11079199 |
NCBI chr 1:185,427,600...185,493,985
Ensembl chr 1:185,356,975...185,538,694
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|
G |
Plekha7em4Mcwi |
pleckstrin homology domain containing, family A member 7; zinc finger nuclease induced mutant 4, Medical College of Wisconsin |
ameliorates |
IMP |
|
RGD |
PMID:25136115, PMID:25136115 |
RGD:11079199, RGD:11079199 |
|
|
G |
Plg |
plasminogen |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6383834 |
|
NCBI chr 1:48,521,828...48,563,895
Ensembl chr 1:48,521,772...48,563,776
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|
G |
Pnmt |
phenylethanolamine-N-methyltransferase |
no_association |
ISO IEP |
DNA:snps:5' utr:g.-390G>A, g.-184G>A rs876493 (human) protein:decreased activity:adrenal gland (rat) DNA:snp:5' utr:g.-390G>A (human) |
RGD |
PMID:17645789, PMID:20378607, PMID:14553966 |
RGD:5130172, RGD:5130152, RGD:5130164 |
NCBI chr10:86,340,893...86,342,501
Ensembl chr10:86,340,940...86,342,858
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|
G |
Pomc |
proopiomelanocortin |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:76749 PMID:187612 PMID:216942 PMID:323586 PMID:1316127 PMID:1321011 PMID:1321309 PMID:1327015 PMID:1330390 PMID:1334993 PMID:1649024 PMID:1664305 PMID:2157753 PMID:2455169 PMID:2551692 PMID:2821097 PMID:2822310 PMID:2849322 PMID:2992854 PMID:3001556 PMID:3015460 PMID:4367732 PMID:6088243 PMID:6089027 PMID:6097376 PMID:6100240 PMID:6135010 PMID:6143199 PMID:6254450 PMID:6274577 PMID:6279500 PMID:6283272 PMID:8136112 PMID:8261660 PMID:8279378 PMID:8713685 PMID:8800598 PMID:9056691 PMID:9535146 PMID:10100081 PMID:10474778 PMID:10513829 PMID:10658937 PMID:11071300 PMID:11071304 PMID:11132610 PMID:11193135 PMID:11518849 PMID:11560123 PMID:11703388 PMID:12872045 PMID:12887135 PMID:15110907 PMID:15132301 PMID:15554453 PMID:16053986 PMID:16243970 PMID:16546835 PMID:16620303 PMID:17324744 PMID:17954371 PMID:17994356 PMID:18067589 PMID:18487447 PMID:19153526 PMID:19458537 PMID:20186125 PMID:20659135 |
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NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
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|
G |
Postn |
periostin |
|
IEP |
associated with Renal Insufficiency, Chronic; protein:increased expression:left ventricle: |
RGD |
PMID:21712488 |
RGD:10041050 |
NCBI chr 2:143,656,820...143,688,087
Ensembl chr 2:143,656,793...143,688,087
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|
G |
Ppara |
peroxisome proliferator activated receptor alpha |
treatment |
IEP ISO IMP |
mRNA:increased expression:skeletal muscle CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:16054168 PMID:19834340, PMID:19763017, PMID:15967866 |
RGD:2313778, RGD:1580222 |
NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
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G |
Pparg |
peroxisome proliferator-activated receptor gamma |
|
IMP ISO IEP IDA |
CTD Direct Evidence: marker/mechanism|therapeutic protein:decreased expression:rostral ventrolateral medulla (rat) human gene in a mouse model |
CTD |
PMID:15199296 PMID:19666838 PMID:27292124, PMID:18437150, PMID:20404217, PMID:18316027, PMID:12923396, PMID:15970297 |
RGD:2301888, RGD:7175297, RGD:2301864, RGD:1580690, RGD:1580684 |
NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
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|
G |
Ppbp |
pro-platelet basic protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6192689 PMID:15513305 |
|
NCBI chr14:18,852,433...18,853,237
Ensembl chr14:18,851,954...18,853,315
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|
G |
Prkag2 |
protein kinase AMP-activated non-catalytic subunit gamma 2 |
|
ISO |
ClinVar Annotator: match by term: High blood pressure |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 4:6,559,153...6,799,888
Ensembl chr 4:6,559,545...6,799,632
|
|
G |
Prkar1b |
protein kinase cAMP-dependent type I regulatory subunit beta |
|
ISO |
|
RGD |
PMID:11161799 |
RGD:619653 |
NCBI chr12:17,614,536...17,713,567
Ensembl chr12:17,614,632...17,712,373
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G |
Prkca |
protein kinase C, alpha |
|
IAGP |
|
RGD |
PMID:15792354 |
RGD:1581271 |
NCBI chr10:96,186,509...96,585,168
Ensembl chr10:96,191,133...96,584,947
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|
G |
Prkcb |
protein kinase C, beta |
|
IDA |
|
RGD |
PMID:15804434 |
RGD:1625513 |
NCBI chr 1:192,233,569...192,575,339
Ensembl chr 1:192,233,910...192,574,831
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|
G |
Prkcd |
protein kinase C, delta |
|
IEP ISO IAGP |
protein:increased expression:heart, fibroblast CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23973649, PMID:10756122, PMID:15792354 |
RGD:1642534, RGD:1581271 |
NCBI chr16:6,655,131...6,675,746
Ensembl chr16:6,655,120...6,675,746
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G |
Prkce |
protein kinase C, epsilon |
|
IAGP |
|
RGD |
PMID:15792354 |
RGD:1581271 |
NCBI chr 6:9,483,400...9,973,396
Ensembl chr 6:9,790,422...9,973,396
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|
G |
Prkg1 |
protein kinase cGMP-dependent 1 |
|
IEP |
mRNA, protein:splice variant, alternative form:basilar artery |
RGD |
PMID:14512447 |
RGD:7775067 |
NCBI chr 1:248,982,039...250,300,952
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|
G |
Prlhr |
prolactin releasing hormone receptor |
|
ISO |
DNA:SNP, missense mutation:promoter, cds:-62G>A, 914C>T (p.P305L) (human) |
RGD |
PMID:14691196 |
RGD:1641832 |
NCBI chr 1:281,754,472...281,756,159
Ensembl chr 1:281,754,724...281,756,159
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|
G |
Proc |
protein C, inactivator of coagulation factors Va and VIIIa |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22352330 |
|
NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
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|
G |
Pten |
phosphatase and tensin homolog |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15646324 |
|
NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
|
|
G |
Ptgds |
prostaglandin D2 synthase |
|
ISO |
protein:increased expression:serum, urine |
RGD |
PMID:11882588 |
RGD:1642584 |
NCBI chr 3:2,686,125...2,689,059
Ensembl chr 3:2,686,123...2,689,084
|
|
G |
Ptgis |
prostaglandin I2 synthase |
|
ISO |
|
RGD |
PMID:12372404 |
RGD:1298040 |
NCBI chr 3:163,950,746...163,986,129
|
|
G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
IAGP ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:14757778 PMID:15834289 PMID:20667508 PMID:22349312, PMID:15775781, PMID:16467505 |
RGD:1581285, RGD:1580671 |
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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|
G |
Pth |
parathyroid hormone |
|
ISO |
protein:increased expression:serum (human) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1930854, PMID:23460043 |
RGD:7242420 |
NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
|
|
G |
Ptk2 |
protein tyrosine kinase 2 |
|
IAGP IEP |
protein:increased expression:aorta |
RGD |
PMID:12732587, PMID:21068519 |
RGD:729831, RGD:10041072 |
NCBI chr 7:114,436,419...114,611,317
Ensembl chr 7:114,437,361...114,590,119
|
|
G |
Ptk2b |
protein tyrosine kinase 2 beta |
susceptibility |
ISO IEP |
DNA:polymorphism:promoter:-22A>G protein:increased expression:aorta |
RGD |
PMID:18075463, PMID:21068519 |
RGD:2292575, RGD:10041072 |
NCBI chr15:42,827,306...42,947,796
Ensembl chr15:42,827,310...42,947,656
|
|
G |
Ptpn1 |
protein tyrosine phosphatase, non-receptor type 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:28899902 |
|
NCBI chr 3:164,665,462...164,711,936
Ensembl chr 3:164,665,532...164,711,848
|
|
G |
Ptprj |
protein tyrosine phosphatase, receptor type, J |
|
IAGP |
|
RGD |
PMID:15710778 |
RGD:1357414 |
NCBI chr 3:79,233,519...79,390,956
Ensembl chr 3:79,233,525...79,390,956
|
|
G |
Ptpru |
protein tyrosine phosphatase, receptor type, U |
susceptibility |
ISO |
|
RGD |
PMID:11086029 |
RGD:1642652 |
NCBI chr 5:149,922,374...149,996,352
Ensembl chr 5:149,922,352...149,996,334
|
|
G |
Qdpr |
quinoid dihydropteridine reductase |
|
IEP |
protein:decreased expression:aorta smooth muscle (rat) |
RGD |
PMID:19743417 |
RGD:5128580 |
NCBI chr14:70,164,682...70,178,284
Ensembl chr14:70,164,650...70,178,284
|
|
G |
Rad51 |
RAD51 recombinase |
|
IDA |
|
RGD |
PMID:24239235 |
RGD:8693672 |
NCBI chr 3:110,918,240...110,942,920
Ensembl chr 3:110,918,243...110,942,917
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|
G |
Rag1 |
recombination activating 1 |
|
IMP |
|
RGD |
PMID:23364523 |
RGD:7207429 |
NCBI chr 3:91,206,394...91,217,491
Ensembl chr 3:91,206,394...91,217,491
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|
G |
Ralbp1 |
ralA binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23821548 |
|
NCBI chr 9:113,579,107...113,598,477
Ensembl chr 9:113,579,107...113,598,480
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|
G |
Ramp2 |
receptor activity modifying protein 2 |
susceptibility |
ISO IEP |
DNA:SNP:intron associated with Pregnancy Complications mRNA, protein:increased expression:heart myocardium, aorta |
RGD |
PMID:15797661, PMID:11600589, PMID:16450076 |
RGD:1642679, RGD:1642682, RGD:1625300 |
NCBI chr10:89,166,170...89,168,962
Ensembl chr10:89,166,890...89,168,965
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|
G |
Rasgrp3 |
RAS guanyl releasing protein 3 |
|
ISO |
|
RGD |
PMID:19421330 |
RGD:2314812 |
NCBI chr 6:21,072,634...21,171,619
Ensembl chr 6:21,072,634...21,135,880
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|
G |
Reg3g |
regenerating family member 3 gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27798352 |
|
NCBI chr 4:109,529,679...109,532,234
Ensembl chr 4:109,529,679...109,532,234
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|
G |
Rela |
RELA proto-oncogene, NF-kB subunit |
|
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19018797 PMID:27659729 PMID:32147540, PMID:16840655 |
RGD:2298761 |
NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
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|
G |
Ren |
renin |
|
IDA ISO |
CTD Direct Evidence: marker/mechanism protein:decreased activity:plasma (mouse) |
CTD |
PMID:45830 PMID:62162 PMID:998518 PMID:1071603 PMID:1149188 PMID:6381767 PMID:7721401 PMID:11501062 PMID:12414515 PMID:12600921 PMID:17537837 PMID:18679781 PMID:18847324 PMID:19770776 PMID:20429690 PMID:20811386 PMID:21393355, PMID:16467505, PMID:22493079, PMID:22681982, PMID:16138564 |
RGD:1580671, RGD:6892655, RGD:6784501, RGD:1580697 |
NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
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G |
Resp18 |
regulated endocrine-specific protein 18 |
|
IMP |
|
RGD |
PMID:29570433 |
RGD:14348960 |
NCBI chr 9:82,470,794...82,477,136
Ensembl chr 9:82,470,759...82,477,181
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G |
Resp18em2Mcwi |
regulated endocrine-specific protein 18; zinc finger nuclease induced mutant 2, Medical College of Wisconsin |
|
IMP |
|
RGD |
PMID:29570433 |
RGD:14348960 |
|
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G |
Retn |
resistin |
|
ISO |
DNA:SNP:3' utr:*62A>G (human) |
RGD |
PMID:12629116 |
RGD:1624968 |
NCBI chr12:2,201,909...2,203,649
Ensembl chr12:2,201,891...2,204,249
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|
G |
Rffl |
ring finger and FYVE-like domain containing E3 ubiquitin protein ligase |
|
IEP |
mRNA,protein:increased expression:heart |
RGD |
PMID:21357277 |
RGD:13442502 |
NCBI chr10:70,157,621...70,220,618
Ensembl chr10:70,157,621...70,220,582
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G |
Rgs2 |
regulator of G-protein signaling 2 |
|
ISO IEP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:1798635, PMID:14608379, PMID:17986358 |
RGD:13524579, RGD:2289116 |
NCBI chr13:60,846,458...60,849,061
Ensembl chr13:60,846,308...60,849,094
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G |
Rgs4 |
regulator of G-protein signaling 4 |
treatment |
IEP |
|
RGD |
PMID:21825230 |
RGD:7207400 |
NCBI chr13:88,054,817...88,061,108
Ensembl chr13:88,054,817...88,061,108
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|
G |
Rgs5 |
regulator of G-protein signaling 5 |
treatment |
ISO IEP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:1798635, PMID:21825230 |
RGD:7207400 |
NCBI chr13:87,966,820...88,002,831
Ensembl chr13:87,966,758...88,003,035
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G |
Rhoa |
ras homolog family member A |
|
IEP |
protein:altered localization:mesenteric artery |
RGD |
PMID:17620967 |
RGD:1642801 |
NCBI chr 8:117,082,440...117,116,244
Ensembl chr 8:117,106,576...117,116,167
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G |
Rnls |
renalase, FAD-dependent amine oxidase |
|
ISO |
associated with Diabetes Mellitus Type 2; DNA:SNPs: : rs2296545,rs2576178 (human) associated with kidney Failure,Chronic;DNA:SNPs: : rs2576178, rs10887800 (human) |
RGD |
PMID:21964580, PMID:21178975, PMID:21617193 |
RGD:7327172, RGD:7327174, RGD:7327173 |
NCBI chr 1:251,828,285...252,101,963
Ensembl chr 1:251,828,290...252,100,759
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G |
Rnpep |
arginyl aminopeptidase |
|
IEP IMP |
protein:increased expression:adrenal gland, neurohypophysis |
RGD |
PMID:9660082, PMID:3001599 |
RGD:2325942, RGD:2325950 |
NCBI chr13:52,092,863...52,124,006
Ensembl chr13:52,092,859...52,111,363
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G |
Rps6kb1 |
ribosomal protein S6 kinase B1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19289642 |
|
NCBI chr10:73,824,200...73,865,503
Ensembl chr10:73,824,202...73,865,364
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G |
RT1-Ba |
RT1 class II, locus Ba |
|
ISO |
DNA:polymorphisms (human) |
RGD |
PMID:11798899 |
RGD:5147807 |
NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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G |
S100b |
S100 calcium binding protein B |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:21130083 |
RGD:5508770 |
NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
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|
G |
S1pr1 |
sphingosine-1-phosphate receptor 1 |
disease_progression |
IAGP |
associated with SHRSP;mRNA,protein:increased expression, decreased expression:kidney (rat) |
RGD |
PMID:17938382 |
RGD:1643008 |
NCBI chr 2:218,654,406...218,658,761
Ensembl chr 2:218,654,554...218,658,761
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G |
Scnn1a |
sodium channel epithelial 1 subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11752024 PMID:23348737 |
|
NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049
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G |
Scnn1b |
sodium channel epithelial 1 subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15174897 PMID:15198480 PMID:19344079 |
|
NCBI chr 1:191,829,547...191,883,991
Ensembl chr 1:191,829,555...191,884,298
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G |
Scnn1g |
sodium channel epithelial 1 subunit gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15198480 |
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NCBI chr 1:191,704,397...191,738,271
Ensembl chr 1:191,704,311...191,738,268
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G |
Selp |
selectin P |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15513305 |
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NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
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G |
Serpina1 |
serpin family A member 1 |
|
ISO |
protein:increased expression:urine |
RGD |
PMID:10353322 |
RGD:1643147 |
NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
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G |
Serpine1 |
serpin family E member 1 |
treatment |
ISO IEP IDA |
protein:increased expression:plasma (human) mRNA:increased expression:kidney (SHRSP/A3N rat) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21051829 PMID:22352330, PMID:8355419, PMID:11907153, PMID:16645728 |
RGD:8547753, RGD:28912746, RGD:11081003 |
NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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G |
Serpine2 |
serpin family E member 2 |
|
IEP |
mRNA, protein:increased expression:blood vessel |
RGD |
PMID:12524238 |
RGD:729767 |
NCBI chr 9:85,560,852...85,629,410
Ensembl chr 9:85,560,863...85,626,094
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G |
Serpinf2 |
serpin family F member 2 |
|
ISO |
|
RGD |
PMID:9361364 |
RGD:1625531 |
NCBI chr10:62,264,247...62,272,353
Ensembl chr10:62,264,788...62,273,119
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|
G |
Sgk1 |
serum/glucocorticoid regulated kinase 1 |
no_association susceptibility |
ISO |
DNA:snps:exon, intron: (human) |
RGD |
PMID:15304560, PMID:16221215 |
RGD:1580969, RGD:1580968 |
NCBI chr 1:24,185,451...24,302,309
Ensembl chr 1:24,185,435...24,302,298
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G |
Sh2b3 |
SH2B adaptor protein 3 |
|
IMP |
|
RGD |
PMID:25776069 |
RGD:13442483 |
NCBI chr12:40,261,990...40,265,757
Ensembl chr12:40,244,081...40,265,757
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G |
Sh2b3em1Mcwi |
SH2B adaptor protein 3; zinc finger nuclease induced mutant 1, Medical College of Wisconsin |
|
IMP |
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RGD |
PMID:25776069 |
RGD:13442483 |
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G |
Slc12a2 |
solute carrier family 12 member 2 |
|
IEP ISO IDA |
mRNA:increased expression:aorta CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17259435, PMID:15020309, PMID:21814290 |
RGD:1580582, RGD:9587757 |
NCBI chr18:52,917,124...52,985,281
Ensembl chr18:52,917,124...52,985,261
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G |
Slc12a3 |
solute carrier family 12 member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18480177 |
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NCBI chr19:11,106,033...11,144,674
Ensembl chr19:11,106,033...11,144,641
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G |
Slc26a4 |
solute carrier family 26 member 4 |
|
ISO |
|
RGD |
PMID:17120771 |
RGD:7411553 |
NCBI chr 6:50,809,103...50,848,443
Ensembl chr 6:50,808,923...50,846,965
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G |
Slc2a1 |
solute carrier family 2 member 1 |
|
IEP |
protein:increased expression:renal glomerulus |
RGD |
PMID:12771048 |
RGD:12879474 |
NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
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G |
Slc2a3 |
solute carrier family 2 member 3 |
|
IEP |
protein:decreased expression:hippocampus, parietal cortex; protein:increased expression:hypothalamus, thalamus |
RGD |
PMID:7598707 |
RGD:1642812 |
NCBI chr 4:155,549,991...155,626,018
Ensembl chr 4:155,408,233...155,631,856
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G |
Slc34a1 |
solute carrier family 34 member 1 |
|
ISO |
ClinVar Annotator: match by term: High blood pressure |
ClinVar |
PMID:16638441 PMID:25741868 |
|
NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
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G |
Slc4a4 |
solute carrier family 4 member 4 |
|
IEP |
protein:increased expression:kidney cortex |
RGD |
PMID:15340004 |
RGD:1600028 |
NCBI chr14:20,476,258...20,817,042
Ensembl chr14:20,479,323...20,920,286
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G |
Slc5a2 |
solute carrier family 5 member 2 |
|
IDA |
|
RGD |
PMID:14506074 |
RGD:1599050 |
NCBI chr 1:199,682,688...199,688,809
Ensembl chr 1:199,682,688...199,688,809
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G |
Slc6a18 |
solute carrier family 6 member 18 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15121838 |
|
NCBI chr 1:32,221,679...32,235,599
Ensembl chr 1:32,221,636...32,236,051
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G |
Slc6a19 |
solute carrier family 6 member 19 |
|
IEP |
mRNA:increased expression |
RGD |
PMID:17264310 |
RGD:1600036 |
NCBI chr 1:32,199,869...32,218,628
Ensembl chr 1:32,199,810...32,220,045
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G |
Slc6a2 |
solute carrier family 6 member 2 |
|
ISO |
DNA:polymorphism:1287G>A CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22533655, PMID:17124432 |
RGD:1624279 |
NCBI chr19:15,391,682...15,431,274
Ensembl chr19:15,391,581...15,431,274
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G |
Slc6a3 |
solute carrier family 6 member 3 |
|
IEP |
protein:increased expression:caudate-putamen |
RGD |
PMID:9074541 |
RGD:1625656 |
NCBI chr 1:32,323,011...32,363,983
Ensembl chr 1:32,321,580...32,363,983
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G |
Slc8a1 |
solute carrier family 8 member A1 |
|
IEP ISO |
DNA:snps:intron:g.-23200T>C, g.-23181T>C (human) DNA:SNP: :1784C>T |
RGD |
PMID:16343576, PMID:15785003, PMID:15824464 |
RGD:1598724, RGD:1580732, RGD:1580586 |
NCBI chr 6:4,244,076...4,564,262
Ensembl chr 6:4,258,991...4,520,604
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G |
Slc9a3 |
solute carrier family 9 member A3 |
|
IDA |
|
RGD |
PMID:11880335, PMID:12372791 |
RGD:737665, RGD:727447 |
NCBI chr 1:31,731,652...31,777,144
Ensembl chr 1:31,734,327...31,777,070
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G |
Slc9a3r1 |
SLC9A3 regulator 1 |
|
IEP |
|
RGD |
PMID:15311100 |
RGD:1580741 |
NCBI chr10:103,713,045...103,730,145
Ensembl chr10:103,713,045...103,730,145
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G |
Slc9a3r2 |
SLC9A3 regulator 2 |
|
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22228705, PMID:15311100 |
RGD:1580741 |
NCBI chr10:14,003,330...14,015,066
Ensembl chr10:14,003,320...14,013,870
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|
G |
Sod1 |
superoxide dismutase 1 |
treatment |
ISO IEP |
associated with Hydronephrosis CTD Direct Evidence: marker/mechanism|therapeutic human gene in a rat model mRNA:decreased expression:rostral ventrolateral medulla (rat) |
CTD |
PMID:9024144 PMID:25101153 PMID:32165127, PMID:19403858, PMID:16716903, PMID:16864745, PMID:16716903, PMID:17198913 |
RGD:2312366, RGD:1580833, RGD:1581232, RGD:1580833, RGD:1600704 |
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
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G |
Sod2 |
superoxide dismutase 2 |
|
IDA ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11834524 PMID:21593737 PMID:25101153, PMID:16716903 |
RGD:1580833 |
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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G |
Sod3 |
superoxide dismutase 3 |
|
IDA ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:16864745 PMID:17023265, PMID:12600899, PMID:16864745 |
RGD:1580845, RGD:1581232 |
NCBI chr14:60,958,583...60,971,143
Ensembl chr14:60,958,592...60,964,324
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G |
Sqstm1 |
sequestosome 1 |
|
IEP |
protein:decreased expression:brain |
RGD |
PMID:23499735 |
RGD:11561939 |
NCBI chr10:35,704,728...35,716,316
Ensembl chr10:35,704,730...35,716,294
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G |
Src |
SRC proto-oncogene, non-receptor tyrosine kinase |
|
IDA |
|
RGD |
PMID:16157790 |
RGD:1601372 |
NCBI chr 3:153,547,807...153,595,643
Ensembl chr 3:153,580,861...153,595,642
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G |
Srf |
serum response factor |
|
IDA |
|
RGD |
PMID:16822834 |
RGD:1580749 |
NCBI chr 9:16,737,637...16,747,226
Ensembl chr 9:16,737,642...16,747,225
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G |
Sst |
somatostatin |
|
IEP |
protein:altered expression:stomach |
RGD |
PMID:17928643 |
RGD:2303191 |
NCBI chr11:80,358,172...80,359,449
Ensembl chr11:80,358,211...80,359,444
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|
G |
Stim1 |
stromal interaction molecule 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19897708 |
|
NCBI chr 1:167,373,894...167,533,412
Ensembl chr 1:167,373,678...167,533,420
|
|
G |
Stk11 |
serine/threonine kinase 11 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19289642 |
|
NCBI chr 7:12,440,751...12,457,513
Ensembl chr 7:12,440,751...12,457,513
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|
G |
Stk39 |
serine threonine kinase 39 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:22949526 |
|
NCBI chr 3:54,359,449...54,625,702
Ensembl chr 3:54,359,451...54,625,414
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G |
Sts |
steroid sulfatase |
|
IEP |
protein:increased expression:multiple organs |
RGD |
PMID:8539776 |
RGD:1601393 |
NCBI chr X:45,420,418...45,428,748
Ensembl chr X:45,420,596...45,428,750
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G |
Tac3 |
tachykinin precursor 3 |
|
IEP |
protein:increased expression:supraoptic nucleus, medulla oblongata |
RGD |
PMID:2478257 |
RGD:2305983 |
NCBI chr 7:71,023,976...71,030,582
Ensembl chr 7:71,023,976...71,030,582
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G |
Tacr1 |
tachykinin receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21294877 |
|
NCBI chr 4:113,247,236...113,416,139
Ensembl chr 4:113,247,795...113,414,504
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G |
Tacr3 |
tachykinin receptor 3 |
|
IDA |
|
RGD |
PMID:2471579 |
RGD:2305984 |
NCBI chr 2:240,021,152...240,118,971
Ensembl chr 2:240,021,152...240,118,971
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|
G |
Tbxas1 |
thromboxane A synthase 1 |
|
IDA |
associated with hyperinsulinism |
RGD |
PMID:9370383, PMID:16192456 |
RGD:1601472, RGD:1601439 |
NCBI chr 4:66,624,181...66,846,745
Ensembl chr 4:66,670,618...66,846,805
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G |
Tf |
transferrin |
|
ISO |
protein:decreased expression |
RGD |
PMID:14974364 |
RGD:1601524 |
NCBI chr 8:111,694,570...111,721,275
Ensembl chr 8:111,673,547...111,721,333
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G |
Tgfb1 |
transforming growth factor, beta 1 |
|
IEP IAGP ISO |
protein:increased expression:vascular associated smooth muscle cell mRNA:increased expression:kidney (SHRSP/A3N rat) protein:increased expression:renal glomerulus CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11682445 PMID:19018797, PMID:17364610, PMID:11907153, PMID:11682445, PMID:12771048, PMID:15118671 |
RGD:1601552, RGD:28912746, RGD:30296650, RGD:12879474, RGD:1331525 |
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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G |
Tgfb3 |
transforming growth factor, beta 3 |
no_association |
ISO |
DNA:polymorphism, SNPs |
RGD |
PMID:15924806 |
RGD:1625704 |
NCBI chr 6:109,913,757...109,936,217
Ensembl chr 6:109,913,757...109,935,533
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|
G |
Tgm2 |
transglutaminase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17898543 |
|
NCBI chr 3:154,597,165...154,627,257
Ensembl chr 3:154,597,168...154,627,257
|
|
G |
Th |
tyrosine hydroxylase |
susceptibility |
IEP ISO |
mRNA:increased expression:brain CTD Direct Evidence: marker/mechanism DNA:polymorphism:intron:g.1090T>C rs2070762 (human) |
CTD |
PMID:27659729 PMID:32147540 PMID:32165127, PMID:16650497, PMID:16636198 |
RGD:1601630, RGD:1601631 |
NCBI chr 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
|
|
G |
Thbd |
thrombomodulin |
treatment |
IEP ISO |
associated with Experimental Diabetes Mellitus protein:increased expression:plasma protein:decreased expression:plasma |
RGD |
PMID:14737039, PMID:16095049, PMID:17401180, PMID:12611420 |
RGD:1601646, RGD:5685017, RGD:1601636, RGD:1601652 |
NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
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G |
Timp1 |
TIMP metallopeptidase inhibitor 1 |
|
ISO IEP |
protein:decreased expression:glomerulus CTD Direct Evidence: marker/mechanism mRNA, protein:increased expression:kidney |
CTD |
PMID:21051829, PMID:19506087, PMID:17977875 |
RGD:2312464, RGD:2290351 |
NCBI chr X:1,364,771...1,369,451
Ensembl chr X:1,364,786...1,369,384
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G |
Tjp2 |
tight junction protein 2 |
|
IEP |
protein:decreased expression:brain |
RGD |
PMID:17234953 |
RGD:1600163 |
NCBI chr 1:241,945,816...242,084,044
Ensembl chr 1:241,945,841...242,083,484
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G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27292124 PMID:32147540 |
|
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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G |
Tnf |
tumor necrosis factor |
treatment |
IAGP ISO IMP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18605955 PMID:27292124 PMID:27659729 PMID:27847271 PMID:32147540, PMID:9590569, PMID:16415373 |
RGD:1357163, RGD:1580207 |
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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G |
Tnfrsf11b |
TNF receptor superfamily member 11B |
severity |
ISO |
protein:increased expression:serum |
RGD |
PMID:22050177 |
RGD:7205512 |
NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
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G |
Tp53 |
tumor protein p53 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22228705 |
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NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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G |
Tpm1 |
tropomyosin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22228705 |
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NCBI chr 8:72,814,737...72,841,496
Ensembl chr 8:72,814,740...72,842,228
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G |
Trh |
thyrotropin releasing hormone |
|
IDA ISO |
protein:decreased expression:diencephalon CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6350720, PMID:17227965 |
RGD:1600406 |
NCBI chr 4:124,110,716...124,113,242
Ensembl chr 4:124,110,716...124,113,242
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G |
Trhr |
thyrotropin releasing hormone receptor |
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IDA |
|
RGD |
PMID:7554113 |
RGD:1580745 |
NCBI chr 7:83,113,641...83,153,520
Ensembl chr 7:83,113,672...83,153,519
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G |
Trpc3 |
transient receptor potential cation channel, subfamily C, member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17351372 |
|
NCBI chr 2:123,329,954...123,467,574
Ensembl chr 2:123,329,875...123,407,496
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G |
Trpc5 |
transient receptor potential cation channel, subfamily C, member 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17351372 |
|
NCBI chr X:115,624,670...115,908,248
Ensembl chr X:115,627,653...115,908,693
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G |
Ucn |
urocortin |
|
ISO |
associated with Pregnancy Complications;protein:increased expression:plasma CTD Direct Evidence: therapeutic |
CTD |
PMID:20237592, PMID:16915033 |
RGD:1642775 |
NCBI chr 6:26,602,144...26,602,974
Ensembl chr 6:26,602,144...26,602,974
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G |
Ucn2 |
urocortin 2 |
|
ISO |
human protein in rat model |
RGD |
PMID:19204182 |
RGD:5508437 |
NCBI chr 8:117,727,216...117,728,765
Ensembl chr 8:117,727,877...117,728,764
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G |
Ucp1 |
uncoupling protein 1 |
|
ISO |
DNA:polymorphism: :-3826A>G (human) |
RGD |
PMID:17635070 |
RGD:2313626 |
NCBI chr19:24,456,976...24,464,808
Ensembl chr19:24,456,976...24,464,807
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G |
Ucp2 |
uncoupling protein 2 |
treatment |
ISO IDA |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16685210, PMID:15106800, PMID:20404217 |
RGD:1580794, RGD:7175297 |
NCBI chr 1:165,506,375...165,512,744
Ensembl chr 1:165,506,361...165,512,744
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G |
Ucp3 |
uncoupling protein 3 |
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IEP |
|
RGD |
PMID:10994754 |
RGD:1580795 |
NCBI chr 1:165,482,912...165,495,895
Ensembl chr 1:165,482,155...165,496,206
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G |
Umod |
uromodulin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22228705 |
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NCBI chr 1:189,186,027...189,199,939
Ensembl chr 1:189,186,026...189,199,376
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G |
Uts2 |
urotensin 2 |
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ISO IDA |
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16160878, PMID:15201550, PMID:14621188 |
RGD:1580808, RGD:1580812 |
NCBI chr 5:168,078,748...168,084,133
Ensembl chr 5:168,078,748...168,084,145
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G |
Uts2r |
urotensin 2 receptor |
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IDA |
|
RGD |
PMID:14621188 |
RGD:1580812 |
NCBI chr10:110,364,291...110,365,451
Ensembl chr10:110,364,291...110,365,451
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G |
Vav3 |
vav guanine nucleotide exchange factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21115475 |
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NCBI chr 2:212,247,061...212,585,818
Ensembl chr 2:212,247,451...212,585,818
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G |
Vcam1 |
vascular cell adhesion molecule 1 |
disease_progression |
IEP IAGP ISO |
mRNA:increased expression:multiple organs associated with SHRSP;mRNA,protein:increased expression:kidney, membrane fraction (rat) CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Type1; protein:increased expression:serum: |
CTD |
PMID:11834524 PMID:19018797, PMID:19080338, PMID:17938382, PMID:20569722 |
RGD:2313107, RGD:1643008, RGD:7241235 |
NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
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G |
Vdr |
vitamin D receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11335187 |
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NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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G |
Vegfa |
vascular endothelial growth factor A |
treatment |
ISO |
associated with Prostatic Neoplasms |
RGD |
PMID:16164572, PMID:20630084 |
RGD:1580573, RGD:8552374 |
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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G |
Vhl |
von Hippel-Lindau tumor suppressor |
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ISO |
|
RGD |
PMID:12500216 |
RGD:1580371 |
NCBI chr 4:145,580,869...145,587,835
Ensembl chr 4:145,580,799...145,587,845
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G |
Vwf |
von Willebrand factor |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism associated with Experimental Diabetes Mellitus |
CTD |
PMID:12149661 PMID:12425201 PMID:22352330, PMID:14737039 |
RGD:1601646 |
NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
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G |
Wnk1 |
WNK lysine deficient protein kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22949526, PMID:16301342 |
RGD:1580829 |
NCBI chr 4:152,452,211...152,578,469
Ensembl chr 4:152,452,848...152,578,446
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G |
Wnk4 |
WNK lysine deficient protein kinase 4 |
no_association |
IAGP ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22949526, PMID:12642508, PMID:15110905 |
RGD:629611, RGD:1580830 |
NCBI chr10:89,181,139...89,198,213
Ensembl chr10:89,181,165...89,198,213
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G |
Xdh |
xanthine dehydrogenase |
treatment |
IDA IEP ISO |
DNA:SNPs:exon, intron:47686C>T, 69901A>C, 67873A>C (p.N1109T) (human) |
RGD |
PMID:23746952, PMID:12826072, PMID:18712049, PMID:18728266 |
RGD:7247630, RGD:13210518, RGD:7247654, RGD:7247653 |
NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
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G |
Ywhaz |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta |
treatment |
IEP |
|
RGD |
PMID:22984478 |
RGD:9587480 |
NCBI chr 7:75,573,553...75,598,295
Ensembl chr 7:75,574,967...75,597,276
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G |
Apoe |
apolipoprotein E |
susceptibility |
ISO |
DNA:polymorphism:exon: |
RGD |
PMID:17706090 |
RGD:7771556 |
NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
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G |
Cat |
catalase |
severity |
ISO |
DNA:SNP:promoter:g.4760C>T(rs1001179)(human) |
RGD |
PMID:23961996 |
RGD:9068947 |
NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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G |
Chat |
choline O-acetyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27064256 |
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NCBI chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131
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G |
Col11a1 |
collagen type XI alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22922875 PMID:27064256 |
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NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523
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G |
Col18a1 |
collagen type XVIII alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: GLAUCOMA, PRIMARY CLOSED-ANGLE |
ClinVar |
PMID:19390655 PMID:21862674 PMID:23667181 PMID:25741868 PMID:28041643 PMID:28492532 PMID:29977801 PMID:30007336 |
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NCBI chr20:12,225,202...12,332,858
Ensembl chr20:12,225,202...12,332,858
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G |
Edn1 |
endothelin 1 |
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ISO |
protein:increased expression:plasma (human) |
RGD |
PMID:21946544 |
RGD:8661736 |
NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
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G |
Epdr1 |
ependymin related 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27064256 |
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NCBI chr17:47,397,558...47,422,183
Ensembl chr17:47,397,558...47,422,182
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G |
Fermt2 |
FERM domain containing kindlin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27064256 |
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NCBI chr15:19,807,806...19,876,557
Ensembl chr15:19,807,808...19,876,408
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G |
Glis3 |
GLIS family zinc finger 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27064256 |
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NCBI chr 1:246,380,816...246,564,385
Ensembl chr 1:246,380,889...246,785,360
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G |
Gstm1 |
glutathione S-transferase mu 1 |
susceptibility |
ISO |
DNA:deletion, haplotype:cds (human) |
RGD |
PMID:18334963 |
RGD:7488955 |
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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G |
Hgf |
hepatocyte growth factor |
susceptibility |
ISO |
DNA:SNPs,haplotype::rs5745718,rs1742817(human) |
RGD |
PMID:23585864 |
RGD:8548548 |
NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
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G |
Loxl1 |
lysyl oxidase-like 1 |
no_association |
ISO |
DNA:SNPs: :rs1048661, rs2165241, rs3825942 (human) |
RGD |
PMID:18223248 |
RGD:7394723 |
NCBI chr 8:63,067,757...63,092,124
Ensembl chr 8:63,067,300...63,092,009
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G |
Mmp9 |
matrix metallopeptidase 9 |
no_association |
ISO |
DNA:SNP: :rs2664538 (human) DNA:SNP:promoter:-1562C>T (human) DNA:SNP: :c.836A>G (rs17576) (human) DNA:SNPs: :rs17576, rs3918249 (human) |
RGD |
PMID:17110919, PMID:23441116, PMID:23441116, PMID:21655354 |
RGD:8547816, RGD:8549724, RGD:8549724, RGD:8547830 |
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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G |
Mthfr |
methylenetetrahydrofolate reductase |
susceptibility |
ISO |
DNA:SNPs: :677C>T,1298A>C(human) |
RGD |
PMID:19936026 |
RGD:7387250 |
NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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G |
Muc5ac |
mucin 5AC, oligomeric mucus/gel-forming |
|
ISO |
associated with Cataract;protein:decreased expression:tear |
RGD |
PMID:21139981 |
RGD:7364742 |
NCBI chr 1:214,725,482...214,756,653
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G |
Nos3 |
nitric oxide synthase 3 |
susceptibility |
ISO |
DNA:duplication:intron:IVS4?-?+27 (human) DNA:snps:introns:g.IVS5+1182G>A, g.IVS25+11C>A (rs3793342, rs7830) (human) |
RGD |
PMID:20069064, PMID:23422825 |
RGD:7771573, RGD:7775046 |
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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G |
Plekha7 |
pleckstrin homology domain containing A7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22922875 PMID:27064256 |
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NCBI chr 1:185,427,600...185,493,985
Ensembl chr 1:185,356,975...185,538,694
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G |
Prss56 |
serine protease 56 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21532570 |
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NCBI chr 9:94,278,981...94,284,111
Ensembl chr 9:94,279,155...94,283,919
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G |
Sh3pxd2b |
SH3 and PX domains 2B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28719234 |
|
NCBI chr10:17,209,152...17,296,449
Ensembl chr10:17,209,212...17,291,876
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G |
Slc19a1 |
solute carrier family 19 member 1 |
|
ISO |
ClinVar Annotator: match by term: GLAUCOMA, PRIMARY CLOSED-ANGLE |
ClinVar |
PMID:19390655 PMID:21862674 PMID:23667181 PMID:25741868 PMID:28041643 PMID:28492532 PMID:29977801 |
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NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
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G |
Tfap2b |
transcription factor AP-2 beta |
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ISS |
|
MouseDO |
|
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NCBI chr 9:25,410,669...25,440,568
Ensembl chr 9:25,410,669...25,440,411
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G |
Foxc1 |
forkhead box C1 |
|
ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis 3 ClinVar Annotator: match by term: Iridogoniodysgenesis type1 ClinVar Annotator: match by OMIM:601631 |
OMIM ClinVar |
PMID:9620769 PMID:9792859 PMID:11007653 PMID:11170889 PMID:12036988 PMID:19668217 PMID:19793056 PMID:25741868 PMID:28492532 PMID:32832252 |
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NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
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G |
Pitx2 |
paired-like homeodomain 2 |
|
ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis 4 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 4 ClinVar Annotator: match by term: Iridogoniodysgenesis, dominant type ClinVar Annotator: match by OMIM:137600 |
OMIM ClinVar CTD |
PMID:7581385 PMID:8942889 PMID:9437321 PMID:9618168 PMID:10502778 PMID:25741868 PMID:28492532 PMID:32499604 |
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NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
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G |
Cyp1b1 |
cytochrome P450, family 1, subfamily b, polypeptide 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A ClinVar Annotator: match by term: Glaucoma, congenital ClinVar Annotator: match by term: Glaucoma, primary open angle, juvenile-onset ClinVar Annotator: match by term: Congenital glaucoma ClinVar Annotator: match by OMIM:231300 DNA:missense mutation:cds:p.A388T (human) DNA:missense mutation, deletion:exon:p.R390H, g.4633delC (human) DNA:duplication:exon:g.1546-1555dupTCATGCCACC (human) DNA:missense mutations:exons:p.G61E, p.R368H, p.D374N (human) DNA:missense mutations:exons:p.G61E, p.R469W, p.R523K (human) DNA:deletion, snp:exons:g.4339delG, p.G61E (human) DNA:snp:cds:p.E387K (human) DNA:polymorphisms:multiple (human) |
OMIM ClinVar |
PMID:9097971 PMID:9463332 PMID:9497261 PMID:10227395 PMID:10426814 PMID:10655546 PMID:10739169 PMID:10910054 PMID:11403040 PMID:11527932 PMID:11558822 PMID:11774072 PMID:11854439 PMID:11980847 PMID:12036985 PMID:12372064 PMID:14507861 PMID:15037581 PMID:15255109 PMID:15342693 PMID:16384942 PMID:16688110 PMID:16735991 PMID:16735994 PMID:16862072 PMID:17164573 PMID:17363580 PMID:17563717 PMID:17591938 PMID:17718864 PMID:18227148 PMID:18414103 PMID:18470941 PMID:18537981 PMID:18622259 PMID:18852424 PMID:19204079 PMID:19234632 PMID:19236111 PMID:19247456 PMID:19536304 PMID:19597567 PMID:19643970 PMID:19744731 PMID:19793111 PMID:19807744 PMID:20151268 PMID:20198978 PMID:20664688 PMID:21081970 PMID:21168818 PMID:21600657 PMID:21815720 PMID:21850185 PMID:21854771 PMID:22004014 PMID:22128238 PMID:22942166 PMID:23028769 PMID:23218183 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24123366 PMID:24281366 PMID:24940937 PMID:25091052 PMID:25109919 PMID:25333069 PMID:25527694 PMID:25646030 PMID:25741868 PMID:25950505 PMID:25978063 PMID:26550974 PMID:27060699 PMID:27243976 PMID:27272408 PMID:27408750 PMID:27508083 PMID:27535533 PMID:27777502 PMID:27820421 PMID:28192799 PMID:28384041 PMID:28448622 PMID:28492532 PMID:28620713 PMID:29556725 PMID:30653986 PMID:30788381 PMID:32499604 PMID:32832252 PMID:32860008 PMID:94927261, PMID:16490498, PMID:19247456, PMID:12567107, PMID:19597567, PMID:19593207, PMID:20664688, PMID:10227395, PMID:23922489, PMID:12624268 |
RGD:7800719, RGD:7800711, RGD:7800707, RGD:7800689, RGD:7800688, RGD:7800680, RGD:7800670, RGD:7800657, RGD:734869 |
NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
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G |
Foxc1 |
forkhead box C1 |
|
ISS |
OMIM:231300 |
MouseDO |
|
|
NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
|
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G |
Ltbp2 |
latent transforming growth factor beta binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Glaucoma, congenital |
ClinVar |
PMID:19656777 |
|
NCBI chr 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569
|
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G |
Myoc |
myocilin |
|
ISO |
ClinVar Annotator: match by term: Glaucoma 3, primary congenital, a, digenic |
ClinVar |
PMID:12447164 PMID:15025728 PMID:15723004 PMID:15733270 PMID:16288197 PMID:17563717 PMID:22194650 PMID:22736945 |
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NCBI chr13:80,517,531...80,527,928
Ensembl chr13:80,517,536...80,527,928
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G |
Rmdn2 |
regulator of microtubule dynamics 2 |
|
ISO |
ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A |
ClinVar |
|
|
NCBI chr 6:2,215,062...2,292,288
Ensembl chr 6:2,216,623...2,280,777
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G |
Tyr |
tyrosinase |
|
ISS |
OMIM:231300 |
MouseDO |
|
|
NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
|
|
|
G |
Sbf2 |
SET binding factor 2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4B2 ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma ClinVar Annotator: match by OMIM:604563 ClinVar Annotator: match by null |
OMIM ClinVar |
PMID:9521281 PMID:10932274 PMID:12554688 PMID:12687498 PMID:15304601 PMID:15477569 PMID:25025039 PMID:25741868 PMID:26392352 PMID:26467025 PMID:27582484 PMID:28492532 |
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NCBI chr 1:174,948,361...175,420,161
Ensembl chr 1:174,948,913...175,420,160
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G |
Kcnip1 |
potassium voltage-gated channel interacting protein 1 |
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ISO |
ClinVar Annotator: match by null |
ClinVar |
PMID:15057310 PMID:16155733 |
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NCBI chr10:18,558,128...18,942,677
Ensembl chr10:18,558,128...18,942,540
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G |
Kcnmb1 |
potassium calcium-activated channel subfamily M regulatory beta subunit 1 |
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ISO |
ClinVar Annotator: match by OMIM:608622 |
OMIM ClinVar |
PMID:15057310 PMID:16155733 |
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NCBI chr10:18,910,586...18,922,856
Ensembl chr10:18,906,010...18,919,639
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G |
G6pc3 |
glucose 6 phosphatase catalytic subunit 3 |
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ISO |
ClinVar Annotator: match by term: Dursun syndrome |
ClinVar |
PMID:19011569 PMID:20799326 PMID:25741868 |
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NCBI chr10:90,134,193...90,138,425
Ensembl chr10:90,134,193...90,138,425
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G |
Il6 |
interleukin 6 |
treatment |
IDA |
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RGD |
PMID:27106269 |
RGD:11062145 |
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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G |
Acsm3 |
acyl-CoA synthetase medium-chain family member 3 |
no_association |
ISO |
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RGD |
PMID:11592044 |
RGD:1579978 |
NCBI chr 1:189,514,504...189,541,233
Ensembl chr 1:189,514,553...189,541,224
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G |
Add1 |
adducin 1 |
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ISO |
ClinVar Annotator: match by term: Hypertension, salt-sensitive essential, susceptibility to |
OMIM ClinVar |
PMID:9149697 PMID:9607177 PMID:10024330 PMID:21692745 PMID:22992668 |
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NCBI chr14:81,367,466...81,426,610
Ensembl chr14:81,367,468...81,426,496
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G |
Agt |
angiotensinogen |
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ISO |
ClinVar Annotator: match by term: Hypertension, essential, susceptibility to |
OMIM ClinVar |
PMID:7649545 PMID:7883995 PMID:8348146 PMID:8513325 PMID:8518804 PMID:9120024 PMID:9259580 PMID:9421481 PMID:9831339 PMID:9894356 PMID:13937884 PMID:15077204 PMID:16059745 PMID:17047091 PMID:20978123 PMID:25741868 |
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NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
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G |
Agtr1a |
angiotensin II receptor, type 1a |
treatment |
ISO |
ClinVar Annotator: match by term: Hypertension, essential, susceptibility to |
OMIM ClinVar |
PMID:8021009 PMID:9084931 PMID:15042429 PMID:17668390, PMID:18604484 |
RGD:10047396 |
NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
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G |
Atp1b1 |
ATPase Na+/K+ transporting subunit beta 1 |
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ISO |
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OMIM |
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NCBI chr13:82,737,161...82,757,681
Ensembl chr13:82,737,159...82,758,004
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G |
Atp2a2 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 |
susceptibility |
ISO |
DNA:polymorphism:exon:p.A724A (c.2171G>A)(human) |
RGD |
PMID:20687374 |
RGD:13507310 |
NCBI chr12:39,553,903...39,603,326
Ensembl chr12:39,553,903...39,603,326
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G |
Atp5pf |
ATP synthase peripheral stalk subunit F6 |
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ISO |
protein:increased expression:plasma (human) |
RGD |
PMID:14654753 |
RGD:13800915 |
NCBI chr11:24,286,806...24,294,419
Ensembl chr11:24,286,787...24,294,179
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G |
Cat |
catalase |
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ISO |
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RGD |
PMID:15735318 |
RGD:1581147 |
NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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G |
Cyp3a9 |
cytochrome P450, family 3, subfamily a, polypeptide 9 |
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ISO |
ClinVar Annotator: match by term: Hypertension, salt-sensitive essential, susceptibility to |
OMIM ClinVar |
PMID:11279519 PMID:11740341 PMID:12065767 PMID:12754175 PMID:15492926 |
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NCBI chr12:19,074,288...19,114,491
Ensembl chr12:19,074,583...19,114,399
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G |
Ece1 |
endothelin converting enzyme 1 |
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ISO |
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OMIM |
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NCBI chr 5:156,215,469...156,318,652
Ensembl chr 5:156,215,417...156,318,671
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G |
Eln |
elastin |
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ISS |
OMIM:145500 | OMIM:603918 | OMIM:604329 | OMIM:607329 | OMIM:608742 | OMIM:610261 | OMIM:610262 | OMIM:610948 | OMIM:611014 |
MouseDO |
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NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
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G |
Gata5 |
GATA binding protein 5 |
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ISS |
OMIM:145500 | OMIM:603918 | OMIM:604329 | OMIM:607329 | OMIM:608742 | OMIM:610261 | OMIM:610262 | OMIM:610948 | OMIM:611014 |
MouseDO |
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NCBI chr 3:175,701,278...175,709,465
Ensembl chr 3:175,701,280...175,709,465
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G |
Gnb3 |
G protein subunit beta 3 |
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ISO |
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OMIM |
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NCBI chr 4:157,352,558...157,359,237
Ensembl chr 4:157,352,372...157,358,262
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G |
Grk4 |
G protein-coupled receptor kinase 4 |
susceptibility |
ISO |
DNA:SNP,haplotypes:cds: |
RGD |
PMID:15097232, PMID:15097232 |
RGD:1598505, RGD:1598505 |
NCBI chr14:81,261,708...81,339,516
Ensembl chr14:81,265,672...81,339,526
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G |
Havcr1 |
hepatitis A virus cellular receptor 1 |
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ISO |
protein:increased expression:urine: |
RGD |
PMID:22923545 |
RGD:7245500 |
NCBI chr10:31,813,819...31,860,934
Ensembl chr10:31,813,814...31,848,379
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G |
Lcn2 |
lipocalin 2 |
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ISO |
protein:increased expression:urine: |
RGD |
PMID:22923545 |
RGD:7245500 |
NCBI chr 3:11,414,189...11,417,534
Ensembl chr 3:11,414,186...11,417,546
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G |
Nos3 |
nitric oxide synthase 3 |
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ISO |
DNA:repeats:intron:IVS13+?-?dupCA (human) ClinVar Annotator: match by term: Essential hypertension DNA:snp:cds:p.E298D (human) |
ClinVar OMIM |
PMID:25741868, PMID:9084930, PMID:11394896 |
RGD:1580277, RGD:1580280 |
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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G |
Nppb |
natriuretic peptide B |
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ISO |
protein:increased expression:plasma: |
RGD |
PMID:9350073 |
RGD:7246914 |
NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
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G |
Npr2 |
natriuretic peptide receptor 2 |
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ISO |
DNA:repeat:intron:IVS2+150(GT)10-11 (human) |
RGD |
PMID:10082481 |
RGD:1580772 |
NCBI chr 5:59,128,186...59,147,321
Ensembl chr 5:59,128,315...59,147,255
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G |
Ptgis |
prostaglandin I2 synthase |
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ISO |
ClinVar Annotator: match by OMIM:145500 |
OMIM ClinVar |
PMID:12372404 |
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NCBI chr 3:163,950,746...163,986,129
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G |
Rarres2 |
retinoic acid receptor responder 2 |
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ISO |
protein:increased expression:serum: |
RGD |
PMID:24047472 |
RGD:15036820 |
NCBI chr 4:78,205,809...78,208,956
Ensembl chr 4:78,205,812...78,208,767
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G |
Rgs5 |
regulator of G-protein signaling 5 |
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ISO |
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OMIM |
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NCBI chr13:87,966,820...88,002,831
Ensembl chr13:87,966,758...88,003,035
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G |
Rnls |
renalase, FAD-dependent amine oxidase |
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ISO |
DNA:SNPs: :rs2576178, rs2296545,rs2114406 (human) |
RGD |
PMID:17216203 |
RGD:7327177 |
NCBI chr 1:251,828,285...252,101,963
Ensembl chr 1:251,828,290...252,100,759
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G |
Slc12a3 |
solute carrier family 12 member 3 |
severity |
ISO |
DNA:missense mutation:cds:p.R904Q (human) DNA:snp:intron:g.1784C>T (human) |
RGD |
PMID:15480096, PMID:15824464 |
RGD:1580589, RGD:1580586 |
NCBI chr19:11,106,033...11,144,674
Ensembl chr19:11,106,033...11,144,641
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G |
Umod |
uromodulin |
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ISO |
ClinVar Annotator: match by term: Essential hypertension |
ClinVar |
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NCBI chr 1:189,186,027...189,199,939
Ensembl chr 1:189,186,026...189,199,376
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G |
Agpat1 |
1-acylglycerol-3-phosphate O-acyltransferase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28553957 |
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NCBI chr20:4,369,399...4,378,272
Ensembl chr20:4,369,178...4,378,269
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G |
Apoe |
apolipoprotein E |
susceptibility |
ISO |
DNA:polymorphism:exon: |
RGD |
PMID:15939044 |
RGD:7771555 |
NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
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G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25706626 |
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NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
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G |
Cav1 |
caveolin 1 |
no_association |
ISO |
DNA:SNP:promoter:rs4236601 (human) |
RGD |
PMID:20835238 |
RGD:8661783 |
NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
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G |
Clu |
clusterin |
no_association |
ISO |
DNA:SNPs, haplotype: :multiple DNA:SNP:intron:rs2279590 (human) |
RGD |
PMID:18806885, PMID:25057782, PMID:19182256, PMID:19182256, PMID:16639006 |
RGD:8699505, RGD:9068391, RGD:8887372, RGD:8887372, RGD:8699516 |
NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
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G |
Edn1 |
endothelin 1 |
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ISO |
associated with Cataract;protein:increased expression:aqueous humor (human) |
RGD |
PMID:15031170 |
RGD:8661674 |
NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
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G |
Eln |
elastin |
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ISO |
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RGD |
PMID:7777294 |
RGD:9585736 |
NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
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G |
Gstm1 |
glutathione S-transferase mu 1 |
susceptibility no_association |
ISO |
DNA:deletion, haplotype:cds (human) DNA:deletion:cds (human) |
RGD |
PMID:18334963, PMID:16020292 |
RGD:7488955, RGD:7495792 |
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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G |
Gstt1 |
glutathione S-transferase theta 1 |
susceptibility no_association |
ISO |
DNA:deletion:cds (human) mRNA:decreased expression:ciliary processes, iris (human) |
RGD |
PMID:21151336, PMID:18055805, PMID:16020292 |
RGD:7794822, RGD:7794853, RGD:7495792 |
NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
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G |
Loxl1 |
lysyl oxidase-like 1 |
susceptibility no_association |
ISO |
DNA:SNP: :p.R141L (rs1048661) (human) ClinVar Annotator: match by term: Exfoliation syndrome, susceptibility to CTD Direct Evidence: marker/mechanism DNA:CNVs DNA:SNPs:exon:p.R141L, p.G153D (human) DNA:SNP, haplotypes:promoter:multiple DNA:SNP:exon:rs1048661, rs3825942 (human) DNA:SNP, haplotypes: :rs1048661, rs3825942 (human) DNA:SNP: :multiple |
ClinVar OMIM CTD |
PMID:17690259 PMID:18037624 PMID:19343041 PMID:25706626 PMID:28553957, PMID:23378724, PMID:19029039, PMID:23288989, PMID:21320968, PMID:21212179, PMID:21740868, PMID:22605916, PMID:19503743, PMID:19373106 |
RGD:7387325, RGD:7394726, RGD:7387333, RGD:7387332, RGD:7387331, RGD:7387329, RGD:7387328, RGD:7387327, RGD:7387326 |
NCBI chr 8:63,067,757...63,092,124
Ensembl chr 8:63,067,300...63,092,009
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G |
Ltbp2 |
latent transforming growth factor beta binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Exfoliation Syndrome ClinVar Annotator: match by term: Pseudoexfoliation glaucoma |
ClinVar |
PMID:23401661 PMID:28492532 |
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NCBI chr 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569
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G |
Lyst |
lysosomal trafficking regulator |
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ISS |
OMIM:177650 |
MouseDO |
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NCBI chr17:90,323,055...90,522,091
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G |
Mmp1 |
matrix metallopeptidase 1 |
no_association |
ISO |
DNA:insertion:promoter:g.-1607insG rs1799750 (human) |
RGD |
PMID:20808730 |
RGD:8549725 |
NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
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G |
Mmp9 |
matrix metallopeptidase 9 |
no_association |
ISO |
DNA:insertion: :p.Q279R (rs17576) (human) |
RGD |
PMID:20808730 |
RGD:8549725 |
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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G |
Optn |
optineurin |
no_association |
ISO |
DNA:polymorphism: :p.M98K (human) |
RGD |
PMID:16020311 |
RGD:6480509 |
NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
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G |
Pomp |
proteasome maturation protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28553957 |
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NCBI chr12:8,746,948...8,759,433
Ensembl chr12:8,746,855...8,759,599
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G |
Pon1 |
paraoxonase 1 |
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ISO |
protein:decreased expression:serum (human) |
RGD |
PMID:19628957 |
RGD:8547685 |
NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
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G |
Rbms3 |
RNA binding motif, single stranded interacting protein 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28553957 |
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NCBI chr 8:124,833,804...125,645,895
Ensembl chr 8:124,661,839...125,645,898
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G |
Sod2 |
superoxide dismutase 2 |
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ISO |
associated with cataract;mRNA:increased expression:lens epithelium: associated with glaucoma,primary open angle; mRNA:increased expression: ciliary body, iris: |
RGD |
PMID:23805041, PMID:18055805 |
RGD:8158048, RGD:7794853 |
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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G |
Tlcd5 |
TLC domain containing 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28553957 |
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NCBI chr 8:47,399,122...47,404,018
Ensembl chr 8:47,396,741...47,404,010
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G |
Tlr4 |
toll-like receptor 4 |
susceptibility |
ISO |
DNA:haplotype:: |
RGD |
PMID:22831837 |
RGD:7794768 |
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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G |
Ace2 |
angiotensin I converting enzyme 2 |
treatment |
IDA |
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RGD |
PMID:23702784 |
RGD:9685447 |
NCBI chr X:32,050,734...32,095,860
Ensembl chr X:32,049,931...32,096,016
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G |
Anxa3 |
annexin A3 |
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IEP |
mRNA:increased expression:retina |
RGD |
PMID:18055803 |
RGD:2289160 |
NCBI chr14:14,371,921...14,426,503
Ensembl chr14:14,364,008...14,426,437
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G |
Apoa4 |
apolipoprotein A4 |
|
ISO |
Primary Congenital Glaucoma; protein:increased expression:aqueous humor (human) |
RGD |
PMID:21078314 |
RGD:5685641 |
NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
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G |
Apoe |
apolipoprotein E |
|
ISO |
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GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
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G |
Atf2 |
activating transcription factor 2 |
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IEP |
|
RGD |
PMID:17586494 |
RGD:10047416 |
NCBI chr 3:60,721,137...60,795,951
Ensembl chr 3:60,721,135...60,795,951
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G |
Bad |
BCL2-associated agonist of cell death |
|
IEP |
protein:decreased serine phosphorylation:retina |
RGD |
PMID:16103353 |
RGD:2292690 |
NCBI chr 1:222,198,516...222,207,459
Ensembl chr 1:222,198,534...222,207,453
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G |
Bax |
BCL2 associated X, apoptosis regulator |
|
IEP |
mRNA:increased expression:optic nerve, retina |
RGD |
PMID:24357921 |
RGD:10054098 |
NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
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G |
Bcl2 |
BCL2, apoptosis regulator |
|
IEP |
mRNA:decreased expression:optic nerve, retina |
RGD |
PMID:24357921 |
RGD:10054098 |
NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
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G |
Bdnf |
brain-derived neurotrophic factor |
treatment |
ISO IDA IEP |
protein:decreased expression:eye: |
RGD |
PMID:19422885, PMID:21498611, PMID:10711692 |
RGD:8655601, RGD:8655886, RGD:8655608 |
NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
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G |
Becn1 |
beclin 1 |
|
IEP |
protein:increased expression:eye |
RGD |
PMID:22476098 |
RGD:6483048 |
NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
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G |
Bex3 |
brain expressed X-linked 3 |
|
IEP |
mRNA:decreased expression:retina |
RGD |
PMID:19682984 |
RGD:9743977 |
NCBI chr X:106,823,442...106,825,016
Ensembl chr X:106,823,491...106,825,014
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G |
Ccnd2 |
cyclin D2 |
|
IEP |
mRNA:increased expression:retina |
RGD |
PMID:18055803 |
RGD:2289160 |
NCBI chr 4:159,674,885...159,697,207
Ensembl chr 4:159,674,885...159,697,207
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G |
Ccr5 |
C-C motif chemokine receptor 5 |
|
ISO |
|
RGD |
PMID:16159632 |
RGD:8549757 |
NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
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G |
Cdkn1b |
cyclin-dependent kinase inhibitor 1B |
|
IEP |
mRNA, protein:decreased expression:retina, Muller cell |
RGD |
PMID:16707124 |
RGD:2293623 |
NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21532571 |
|
NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
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G |
Cdkn2b |
cyclin-dependent kinase inhibitor 2B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21532571 |
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NCBI chr 5:107,834,353...107,857,428
Ensembl chr 5:107,845,951...107,858,104
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G |
Cfh |
complement factor H |
|
ISO |
protein:decreased expression:retina: |
RGD |
PMID:20484586 |
RGD:7364950 |
NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
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G |
Cntf |
ciliary neurotrophic factor |
|
IDA ISO |
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RGD |
PMID:14725620, PMID:19060281 |
RGD:1626115, RGD:8655853 |
NCBI chr 1:229,599,009...229,601,032
Ensembl chr 1:229,599,009...229,601,032
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G |
Crebbp |
CREB binding protein |
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ISO |
ClinVar Annotator: match by term: Glaucoma |
ClinVar |
PMID:25741868 |
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NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
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G |
Cx3cr1 |
C-X3-C motif chemokine receptor 1 |
|
ISO |
|
RGD |
PMID:24989686 |
RGD:9384823 |
NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
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G |
Eef2 |
eukaryotic translation elongation factor 2 |
|
ISO |
associated with Exfoliation Syndrome; |
RGD |
PMID:20107165 |
RGD:10401222 |
NCBI chr 7:11,401,501...11,406,771
Ensembl chr 7:11,401,501...11,406,771
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G |
Epo |
erythropoietin |
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ISO IEP |
protein:increased expression:retina: |
RGD |
PMID:19741249, PMID:17554621, PMID:17554621 |
RGD:10401071, RGD:11041649, RGD:11041649 |
NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
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G |
Epor |
erythropoietin receptor |
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IEP |
protein:increased expression:retina: |
RGD |
PMID:17554621 |
RGD:11041649 |
NCBI chr 8:22,969,737...22,974,468
Ensembl chr 8:22,969,745...22,974,321
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G |
Fas |
Fas cell surface death receptor |
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ISO |
protein:increased expression:optic nerve head, axon (human) |
RGD |
PMID:19043361 |
RGD:8662440 |
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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G |
Foxc1 |
forkhead box C1 |
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ISO |
associated with Axenfeld-Rieger Syndrome;DNA:mutation:cds:p.Q120X(human) |
RGD |
PMID:18498376 |
RGD:12904045 |
NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
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G |
Lgr4 |
leucine-rich repeat-containing G protein-coupled receptor 4 |
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ISS |
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MouseDO |
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NCBI chr 3:101,051,960...101,152,119
Ensembl chr 3:101,051,955...101,152,119
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G |
Lingo1 |
leucine rich repeat and Ig domain containing 1 |
treatment |
ISO |
|
RGD |
PMID:19422885 |
RGD:8655601 |
NCBI chr 8:61,272,125...61,455,480
Ensembl chr 8:61,274,017...61,290,240
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G |
Ltbp2 |
latent transforming growth factor beta binding protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19361779 PMID:27149523 |
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NCBI chr 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569
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G |
Map1lc3a |
microtubule-associated protein 1 light chain 3 alpha |
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IEP |
protein:increased expression:optic nerve |
RGD |
PMID:24136224 |
RGD:13782046 |
NCBI chr 3:150,801,289...150,802,935
Ensembl chr 3:150,801,289...150,802,935
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G |
Mas1 |
MAS1 proto-oncogene, G protein-coupled receptor |
treatment |
IMP |
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RGD |
PMID:23702784 |
RGD:9685447 |
NCBI chr 1:48,076,761...48,108,218
Ensembl chr 1:48,077,033...48,108,216
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G |
Mmp9 |
matrix metallopeptidase 9 |
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ISO |
|
RGD |
PMID:16185954 |
RGD:8547817 |
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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G |
Muc5ac |
mucin 5AC, oligomeric mucus/gel-forming |
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ISO |
protein:increased expression:conjunctival epithelial cell |
RGD |
PMID:16809382 |
RGD:7364743 |
NCBI chr 1:214,725,482...214,756,653
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G |
Mylk |
myosin light chain kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20375339 |
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NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
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G |
Myoc |
myocilin |
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TAS ISO |
ClinVar Annotator: match by term: Glaucoma CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:9535666 PMID:9772276 PMID:9804137 PMID:10196380 PMID:10330365 PMID:10545602 PMID:10798654 PMID:10980537 PMID:11004290 PMID:11133859 PMID:11152659 PMID:11281418 PMID:11298682 PMID:11803488 PMID:12189160 PMID:12356829 PMID:12442283 PMID:12872267 PMID:14688426 PMID:14764620 PMID:14767915 PMID:15790895 PMID:16148883 PMID:16466712 PMID:16636654 PMID:17438518 PMID:17893664 PMID:18776955 PMID:19145250 PMID:21552496 PMID:21850185 PMID:22736945 PMID:22933836 PMID:23029558 PMID:23922489 PMID:24033266 PMID:25741868 PMID:27485216 PMID:28492532 PMID:30389787 PMID:31959993, PMID:10833334 |
RGD:633384 |
NCBI chr13:80,517,531...80,527,928
Ensembl chr13:80,517,536...80,527,928
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G |
Nefh |
neurofilament heavy |
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IEP |
protein:decreased expression:optic nerve: |
RGD |
PMID:28498493 |
RGD:27226819 |
NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
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G |
Ngf |
nerve growth factor |
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IEP |
protein:decreased expression:cerebrospinal fluid |
RGD |
PMID:18938194 |
RGD:2303806 |
NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
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G |
Ngfr |
nerve growth factor receptor |
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IDA |
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RGD |
PMID:20943663 |
RGD:5508695 |
NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
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G |
Nmnat3 |
nicotinamide nucleotide adenylyltransferase 3 |
treatment |
IDA |
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RGD |
PMID:24136224 |
RGD:13782046 |
NCBI chr 8:106,317,038...106,429,535
Ensembl chr 8:106,317,124...106,429,522
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G |
Ntrk1 |
neurotrophic receptor tyrosine kinase 1 |
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IEP IDA |
mRNA,protein:decreased expression:eye |
RGD |
PMID:18817846, PMID:20943663 |
RGD:5684379, RGD:5508695 |
NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
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G |
Ntrk2 |
neurotrophic receptor tyrosine kinase 2 |
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IDA IEP |
protein:increased expression:eye: |
RGD |
PMID:20357199, PMID:10711692 |
RGD:5684908, RGD:8655608 |
NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
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G |
Opa1 |
OPA1, mitochondrial dynamin like GTPase |
treatment |
ISO |
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RGD |
PMID:18936150, PMID:20664796 |
RGD:7800698, RGD:7800720 |
NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
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G |
Optn |
optineurin |
susceptibility |
ISO |
DNA:SNP:intron: |
RGD |
PMID:16148883 |
RGD:7771548 |
NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
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G |
Pitx2 |
paired-like homeodomain 2 |
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ISS |
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MouseDO |
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NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
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G |
Ptgs1 |
prostaglandin-endoperoxide synthase 1 |
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ISO |
protein:increased expression:microglia |
RGD |
PMID:11391707 |
RGD:5688244 |
NCBI chr 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344
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G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
treatment |
ISO IMP IEP |
protein:increased phosphorylation:retina protein:increased expression,increased phosphorylation:retina |
RGD |
PMID:30341011, PMID:30341011, PMID:30341011 |
RGD:39456090, RGD:39456090, RGD:39456090 |
NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
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G |
RT1-Bb |
RT1 class II, locus Bb |
susceptibility |
ISO |
DNA:polymorphisms, haplotype:cds:HLA-DQB1*0302 (human) |
RGD |
PMID:10511023 |
RGD:7365116 |
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility |
ISO |
DNA:Haplotype: :HLA-DRB1*0407(human) |
RGD |
PMID:10511023 |
RGD:7365116 |
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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G |
Serpine1 |
serpin family E member 1 |
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ISO |
protein:increased expression:aqueous humor (human) |
RGD |
PMID:15710819 |
RGD:8547695 |
NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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G |
Sh3pxd2b |
SH3 and PX domains 2B |
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ISS |
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MouseDO |
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NCBI chr10:17,209,152...17,296,449
Ensembl chr10:17,209,212...17,291,876
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G |
Slc4a4 |
solute carrier family 4 member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18614622 |
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NCBI chr14:20,476,258...20,817,042
Ensembl chr14:20,479,323...20,920,286
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G |
Sncg |
synuclein, gamma |
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ISO IEP |
mRNA, protein:decreased expression:optic nerve |
RGD |
PMID:18728752, PMID:11933054 |
RGD:6218971, RGD:6480100 |
NCBI chr16:10,722,110...10,726,648
Ensembl chr16:10,722,106...10,726,707
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G |
Sqstm1 |
sequestosome 1 |
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IEP |
protein:increased expression:optic nerve |
RGD |
PMID:24136224 |
RGD:13782046 |
NCBI chr10:35,704,728...35,716,316
Ensembl chr10:35,704,730...35,716,294
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G |
Tdrd7 |
tudor domain containing 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21436445 |
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NCBI chr 5:61,557,909...61,631,719
Ensembl chr 5:61,564,864...61,631,710
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G |
Tgfb2 |
transforming growth factor, beta 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20375339 |
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NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030
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G |
Tnf |
tumor necrosis factor |
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IEP ISO IMP |
protein:increased expression:retina |
RGD |
PMID:20574020, PMID:17151265, PMID:22802951, PMID:20574020 |
RGD:7394760, RGD:7394785, RGD:7394770, RGD:7394760 |
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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G |
Txn1 |
thioredoxin 1 |
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IEP |
protein:decreased expression:retinal ganglion cell |
RGD |
PMID:18701913 |
RGD:2306193 |
NCBI chr 5:75,049,735...75,057,731
Ensembl chr 5:75,049,747...75,057,752
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G |
Txnip |
thioredoxin interacting protein |
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IEP |
protein:increased expression:retinal ganglion cell |
RGD |
PMID:18701913 |
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