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: | An artery disease characterized by chronic elevated blood pressure in the arteries. (DO) |
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: | EFO:0000537; 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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ISO |
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RGD |
PMID:1570022 |
RGD:1598531 |
NCBI chr16:8,674,617...8,784,570
Ensembl chr16:8,674,596...8,784,575
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ABCC1 |
ATP binding cassette subfamily C member 1 (ABCC1 blood group) |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17272743 |
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NCBI chr16:15,949,143...16,143,053
Ensembl chr16:15,949,138...16,143,257
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ABCC8 |
ATP binding cassette subfamily C member 8 |
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IAGP |
associated with obesity;DNA:polymorphism:exon: |
RGD |
PMID:11030411 |
RGD:737749 |
NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894
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ABCC9 |
ATP binding cassette subfamily C member 9 |
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ISO |
protein:decreased expression:aorta |
RGD |
PMID:15964031 PMID:18471810 |
RGD:1598644, RGD:2301909 |
NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543
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ABO |
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase |
susceptibility |
IAGP |
associated with COVID-19; DNA:polymorphism:cds:allele A (human) |
RGD |
PMID:32379894 |
RGD:35668862 |
NCBI chr 9:133,250,401...133,275,201
Ensembl chr 9:133,233,278...133,276,024
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ACE |
angiotensin I converting enzyme |
treatment susceptibility |
ISO EXP IEA IAGP |
CTD Direct Evidence: marker/mechanism protein:increased activity:lung (rat) DNA:polymorphism |
CTD RGD |
PMID:15773232 PMID:17473847 PMID:20237592 PMID:27847271 PMID:17392119 PMID:30127255 PMID:27325568 PMID:16203874 PMID:24342267 PMID:3006710 PMID:15118671 PMID:17283861 More...
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RGD:1601113, RGD:401793709, RGD:40400899, RGD:1581743, RGD:11039415, RGD:8157611, RGD:1331525, RGD:1601114 |
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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ACE2 |
angiotensin converting enzyme 2 |
treatment |
IAGP ISO EXP |
DNA:SNP:intron:8790A>G, 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 RGD |
PMID:12075344 PMID:15833808 PMID:17473847 PMID:18391097 PMID:19221212 PMID:20559404 PMID:21859683 PMID:16459167 PMID:12075344 PMID:20854846 PMID:16788004 PMID:17345786 More...
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RGD:1642828, RGD:629626, RGD:9685442, RGD:9685435, RGD:9685433 |
NCBI chr X:15,518,197...15,607,211
Ensembl chr X:15,494,566...15,607,236
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ACSM3 |
acyl-CoA synthetase medium chain family member 3 |
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ISO |
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RGD |
PMID:8507454 PMID:8094726 |
RGD:634023, RGD:61050 |
NCBI chr16:20,674,405...20,797,581
Ensembl chr16:20,610,243...20,797,581
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ACTC1 |
actin alpha cardiac muscle 1 |
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ISO |
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RGD |
PMID:16343576 |
RGD:1598724 |
NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589
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ADA |
adenosine deaminase |
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ISO |
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RGD |
PMID:9605386 |
RGD:1624292 |
NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
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ADAMTS16 |
ADAM metallopeptidase with thrombospondin type 1 motif 16 |
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ISO |
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RGD |
PMID:23185005 |
RGD:9685162 |
NCBI chr 5:5,140,330...5,320,304
Ensembl chr 5:5,140,330...5,320,304
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ADCY5 |
adenylate cyclase 5 |
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ISO EXP |
mRNA:decreased expression:heart left ventricle CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12717102 PMID:12717102 |
RGD:13464134 |
NCBI chr 3:123,282,296...123,449,090
Ensembl chr 3:123,282,296...123,449,090
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ADD1 |
adducin 1 |
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ISO EXP IAGP |
CTD Direct Evidence: marker/mechanism DNA:polymorphism: :p.G460W (human) |
CTD RGD |
PMID:15773232 PMID:19199261 PMID:15474463 PMID:9149697 |
RGD:1302895, RGD:1624953 |
NCBI chr 4:2,843,844...2,930,062
Ensembl chr 4:2,843,844...2,930,076
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ADD2 |
adducin 2 |
no_association |
IAGP IEA |
DNA:polymorphism DNA:SNP: :rs4852706 (human) |
RGD GAD |
PMID:16497648 PMID:24652215 PMID:15118671 |
RGD:1625293, RGD:10047131, RGD:1331525 |
NCBI chr 2:70,656,784...70,768,200
Ensembl chr 2:70,607,618...70,768,225
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ADD3 |
adducin 3 |
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ISO |
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RGD |
PMID:12364392 |
RGD:704369 |
NCBI chr10:109,996,373...110,135,565
Ensembl chr10:109,996,368...110,135,565
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ADIPOQ |
adiponectin, C1Q and collagen domain containing |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12860835 |
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NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
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ADM |
adrenomedullin |
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IEP ISO |
protein:increased expression:plasma mRNA, protein:increased expression:myocardium, aorta |
RGD |
PMID:16625237 PMID:16450076 |
RGD:1625298, RGD:1625300 |
NCBI chr11:10,305,073...10,307,397
Ensembl chr11:10,305,073...10,307,397
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ADORA1 |
adenosine A1 receptor |
treatment no_association |
ISO IAGP |
associated with diabetes mellitus, experimental |
RGD |
PMID:8998253 PMID:9597368 PMID:15257174 |
RGD:1625366, RGD:1625365, RGD:1625367 |
NCBI chr 1:203,127,726...203,167,405
Ensembl chr 1:203,090,654...203,167,405
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ADORA2A |
adenosine A2a receptor |
no_association |
IAGP IEA |
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RGD GAD |
PMID:15257174 PMID:15118671 |
RGD:1625367, RGD:1331525 |
NCBI chr22:24,423,597...24,442,357
Ensembl chr22:24,417,879...24,442,357
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ADRA1A |
adrenoceptor alpha 1A |
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ISO IDA |
mRNA:decreased expression:aorta |
RGD |
PMID:16371063 PMID:19011682 |
RGD:1625770, RGD:5688340 |
NCBI chr 8:26,748,150...26,867,379
Ensembl chr 8:26,748,150...26,867,278
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ADRA1B |
adrenoceptor alpha 1B |
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ISO |
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RGD |
PMID:16095979 |
RGD:1625771 |
NCBI chr 5:159,865,086...159,989,205
Ensembl chr 5:159,865,080...159,973,012
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ADRA2A |
adrenoceptor alpha 2A |
no_association |
IAGP EXP ISO |
DNA:polymorphism CTD Direct Evidence: marker/mechanism mRNA:decreased expression:adrenal gland medulla |
CTD RGD |
PMID:10694191 PMID:16636200 PMID:20691504 |
RGD:1625183, RGD:6480490 |
NCBI chr10:111,077,029...111,080,907
Ensembl chr10:111,077,029...111,080,907
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ADRA2B |
adrenoceptor alpha 2B |
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ISO IAGP |
DNA:polymorphism (human) |
RGD |
PMID:17070424 PMID:18953403 |
RGD:2313548, RGD:2313541 |
NCBI chr 2:96,112,876...96,116,571
Ensembl chr 2:96,112,876...96,116,571
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ADRB1 |
adrenoceptor beta 1 |
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ISO EXP IDA |
protein:increased expression:aorta CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Type 2; |
CTD RGD |
PMID:9260993 PMID:10673262 PMID:19060223 PMID:20398560 |
RGD:5129127, RGD:7241549 |
NCBI chr10:114,043,866...114,046,904
Ensembl chr10:114,043,866...114,046,904
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ADRB2 |
adrenoceptor beta 2 |
susceptibility no_association |
IAGP ISO IEA |
DNA:polymorphisms associated with Kidney Failure, Chronic; DNA:SNP:cds:p.R16G (human) DNA:polymorphisms: :pG16R, p.Q27E, p.T164I (human) DNA:polymorphisms: :46A>G, 79C>G (human) DNA:polymorphisms: :p.R16G, p.Q27E |
RGD GAD |
PMID:16685203 PMID:2471888 PMID:20484896 PMID:15118671 PMID:16041242 PMID:20739939 PMID:17221209 More...
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RGD:1601123, RGD:7175287, RGD:7175066, RGD:1331525, RGD:1578728, RGD:4144883, RGD:1601119 |
NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623
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ADRB3 |
adrenoceptor beta 3 |
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IAGP |
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.W64R (human) |
RGD |
PMID:10981554 |
RGD:2313166 |
NCBI chr 8:37,962,990...37,966,599
Ensembl chr 8:37,962,990...37,966,599
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AGER |
advanced glycosylation end-product specific receptor |
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ISO EXP |
protein:increased expression:kidney CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:32147540 PMID:19018797 |
RGD:2325653 |
NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
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AGT |
angiotensinogen |
treatment susceptibility no_association |
ISO IAGP EXP IEA |
ClinVar Annotator: match by term: Hypertension CTD Direct Evidence: marker/mechanism|therapeutic DNA:polymorphisms: :p.T174M, p.M235T (human) DNA:polymorphism: :p.M235T DNA:polymorphism:promoter:-20C>A (human) DNA:polymorphisms: :-6G>A, p.M235T, p.T174M DNA:polymorphism: :p.M268T (human) protein:increased expression:plasma, urine |
ClinVar CTD RGD |
PMID:43064 PMID:1394429 PMID:1432030 PMID:1849535 PMID:1860718 PMID:1875449 PMID:2831029 PMID:2835134 PMID:3158602 PMID:6742791 PMID:7323490 PMID:7649545 PMID:7883995 PMID:8021468 PMID:8109997 PMID:8348146 PMID:8505092 PMID:8513325 PMID:8518804 PMID:9024144 PMID:9259580 PMID:9260993 PMID:9421481 PMID:9831339 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:16059745 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:19934029 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:25741868 PMID:25874449 PMID:26564064 PMID:26648693 PMID:26781276 PMID:27225954 PMID:27678262 PMID:27798352 PMID:27889505 PMID:28492532 PMID:29706566 PMID:30354818 PMID:30634441 PMID:31016362 PMID:31098697 PMID:31786979 PMID:12468106 PMID:33364953 PMID:24342267 PMID:21865264 PMID:19932924 PMID:9622148 PMID:19779471 PMID:15118671 PMID:1394429 PMID:17334527 PMID:16739866 PMID:17161775 PMID:16514903 PMID:21312059 PMID:21346625 More...
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RGD:1358275, RGD:329956421, RGD:11039415, RGD:8549470, RGD:8549469, RGD:8549458, RGD:8548902, RGD:1331525, RGD:1300393, RGD:1601130, RGD:1601141, RGD:1601139, RGD:1601143, RGD:5129166, RGD:5129176 |
NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
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AGTR1 |
angiotensin II receptor type 1 |
treatment no_association susceptibility |
ISO EXP IEA IAGP |
CTD Direct Evidence: marker/mechanism mRNA:increased expression:aortic endothelial cell DNA:polymorphism:3' utr:1166A>C DNA:polymorphism:3' utr:g.1166A>C associated with Sleep Apnea Syndromes |
CTD RGD |
PMID:8952600 PMID:19047579 PMID:23603059 PMID:27292124 PMID:21346625 PMID:30127255 PMID:9622148 PMID:8181542 PMID:15118671 PMID:10994756 PMID:9456365 PMID:16519598 PMID:21040717 More...
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RGD:5129176, RGD:401793709, RGD:8549458, RGD:5147456, RGD:1331525, RGD:1598885, RGD:1601152, RGD:1601148, RGD:5129169 |
NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008
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AGTR2 |
angiotensin II receptor type 2 |
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ISO EXP |
associated with Sleep Apnea Syndromes CTD Direct Evidence: marker/mechanism mRNA, protein:decreased expression:kidney |
CTD RGD |
PMID:15710752 PMID:21040717 PMID:11924718 PMID:19680135 |
RGD:5129169, RGD:6903865, RGD:6903372 |
NCBI chr X:116,170,744...116,174,974
Ensembl chr X:116,170,744...116,174,974
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AGTRAP |
angiotensin II receptor associated protein |
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ISO |
protein:increased expression:kidney |
RGD |
PMID:18725581 |
RGD:2314351 |
NCBI chr 1:11,736,136...11,750,769
Ensembl chr 1:11,736,084...11,754,802
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AGXT2 |
alanine--glyoxylate aminotransferase 2 |
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IAGP |
DNA:SNP, haplotype:exon:multiple (human) |
RGD |
PMID:33879046 |
RGD:329961321 |
NCBI chr 5:34,998,102...35,047,949
Ensembl chr 5:34,998,101...35,048,135
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AHCY |
adenosylhomocysteinase |
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ISO |
associated with hyperhomocysteinemia |
RGD |
PMID:16815886 |
RGD:1601153 |
NCBI chr20:34,231,981...34,311,836
Ensembl chr20:34,280,268...34,311,802
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AHR |
aryl hydrocarbon receptor |
treatment |
EXP ISO |
CTD Direct Evidence: marker/mechanism associated with chronic intermittent hypoxia |
CTD RGD |
PMID:21115475 PMID:31489946 PMID:23528973 PMID:32416216 PMID:30127255 |
RGD:401793758, RGD:401793732, RGD:401793731, RGD:401793709 |
NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152
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AHRR |
aryl hydrocarbon receptor repressor |
treatment |
ISO |
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RGD |
PMID:30127255 PMID:31489946 |
RGD:401793709, RGD:401793758 |
NCBI chr 5:321,714...438,285
Ensembl chr 5:321,714...438,291
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AIF1 |
allograft inflammatory factor 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32147540 |
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NCBI chr 6:31,615,234...31,617,015
Ensembl chr 6:31,615,217...31,617,021
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AKT1 |
AKT serine/threonine kinase 1 |
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ISO |
protein:increased serine phosphorylation:kidney |
RGD |
PMID:23323219 |
RGD:10041025 |
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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AKT2 |
AKT serine/threonine kinase 2 |
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ISO |
mRNA:increased expression:cerebral cortex (rat) |
RGD |
PMID:12902546 |
RGD:2313350 |
NCBI chr19:40,230,317...40,285,345
Ensembl chr19:40,230,317...40,285,536
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ALAD |
aminolevulinate dehydratase |
no_association |
IAGP EXP |
DNA:polymorphism CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20123609 PMID:11335187 |
RGD:1601156 |
NCBI chr 9:113,386,312...113,401,284
Ensembl chr 9:113,386,312...113,401,290
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ALB |
albumin |
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EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:2526952 |
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NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
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ALDH2 |
aldehyde dehydrogenase 2 family member |
susceptibility no_association |
IAGP |
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RGD |
PMID:11510748 PMID:12484509 |
RGD:1601164, RGD:1601163 |
NCBI chr12:111,766,933...111,817,532
Ensembl chr12:111,766,887...111,817,532
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ALOX12 |
arachidonate 12-lipoxygenase, 12S type |
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ISO |
mRNA:decreased expression:medulla oblongata |
RGD |
PMID:16445702 |
RGD:5509789 |
NCBI chr17:6,996,049...7,010,754
Ensembl chr17:6,996,049...7,010,754
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ALOX15 |
arachidonate 15-lipoxygenase |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22467300 |
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NCBI chr17:4,630,919...4,641,678
Ensembl chr17:4,630,919...4,642,294
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ALOX5 |
arachidonate 5-lipoxygenase |
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ISO |
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RGD |
PMID:16331105 |
RGD:1626151 |
NCBI chr10:45,374,216...45,446,117
Ensembl chr10:45,374,176...45,446,119
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ANGPT1 |
angiopoietin 1 |
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IEP IMP |
protein:increased expression:plasma, platelet |
RGD |
PMID:16942942 PMID:18285514 |
RGD:1626157, RGD:2316068 |
NCBI chr 8:107,249,482...107,497,918
Ensembl chr 8:107,249,482...107,498,055
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ANGPT2 |
angiopoietin 2 |
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ISO |
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RGD |
PMID:19070926 |
RGD:2314171 |
NCBI chr 8:6,499,632...6,563,245
Ensembl chr 8:6,499,632...6,563,409
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ANXA1 |
annexin A1 |
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ISO EXP |
protein:altered localization:vascular associated smooth muscle cell CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22228705 PMID:16109804 |
RGD:1599668 |
NCBI chr 9:73,151,865...73,170,393
Ensembl chr 9:73,151,865...73,170,393
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AOC1 |
amine oxidase copper containing 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6218830 |
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NCBI chr 7:150,852,120...150,861,504
Ensembl chr 7:150,824,627...150,861,504
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AOC3 |
amine oxidase copper containing 3 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23154672 |
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NCBI chr17:42,851,199...42,858,124
Ensembl chr17:42,851,184...42,858,130
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APLN |
apelin |
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ISO |
mRNA:decreased expression:aorta, heart |
RGD |
PMID:15664402 |
RGD:1626176 |
NCBI chr X:129,645,259...129,654,956
Ensembl chr X:129,645,259...129,654,956
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APOA1 |
apolipoprotein A1 |
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ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18224302 PMID:23401751 |
RGD:7241867 |
NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622
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APOB |
apolipoprotein B |
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IEA |
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GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
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APOE |
apolipoprotein E |
onset |
IEA EXP ISO |
CTD Direct Evidence: marker/mechanism mRNA:decreased expression:multiple (rat) |
CTD RGD |
PMID:20720404 PMID:22228705 PMID:15118671 PMID:20585107 |
RGD:1331525, RGD:6904214 |
NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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APP |
amyloid beta precursor protein |
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ISO |
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RGD |
PMID:29713228 |
RGD:13703136 |
NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128
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AQP1 |
aquaporin 1 (Colton blood group) |
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ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22228705 PMID:20156423 |
RGD:5148031 |
NCBI chr 7:30,911,853...30,925,516
Ensembl chr 7:30,911,853...30,925,517
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G |
AQP2 |
aquaporin 2 |
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ISO |
protein:increased expression:kidney medulla |
RGD |
PMID:16582573 |
RGD:1601243 |
NCBI chr12:49,950,737...49,958,878
Ensembl chr12:49,950,737...49,958,878
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G |
AQP4 |
aquaporin 4 |
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ISO |
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RGD |
PMID:20156423 |
RGD:5148031 |
NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
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G |
AR |
androgen receptor |
treatment |
ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:10523385 PMID:15746697 PMID:12397037 |
RGD:1601245, RGD:10043316 |
NCBI chr X:67,544,021...67,730,619
Ensembl chr X:67,544,021...67,730,619
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G |
ARG1 |
arginase 1 |
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ISO |
mRNA:increased expression:aorta (rat) |
RGD |
PMID:18475148 PMID:17223136 |
RGD:4142834, RGD:1626296 |
NCBI chr 6:131,573,226...131,584,329
Ensembl chr 6:131,470,832...131,584,332
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G |
ARG2 |
arginase 2 |
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ISO |
mRNA:increased expression:lung mRNA:increased expression:aorta (rat) |
RGD |
PMID:20039818 PMID:17223136 PMID:18475148 |
RGD:4143278, RGD:1626296, RGD:4142834 |
NCBI chr14:67,619,920...67,651,708
Ensembl chr14:67,619,920...67,651,708
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G |
ARHGDIA |
Rho GDP dissociation inhibitor alpha |
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ISO |
mRNA:decreased expression:urinary bladder protein:decreased expression:cortical collecting duct |
RGD |
PMID:19689474 PMID:25164814 |
RGD:9684972, RGD:9684979 |
NCBI chr17:81,867,721...81,871,337
Ensembl chr17:81,867,721...81,871,378
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G |
ARID1B |
AT-rich interaction domain 1B |
treatment |
ISO |
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RGD |
PMID:17489020 |
RGD:9587762 |
NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
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G |
ARNT |
aryl hydrocarbon receptor nuclear translocator |
treatment |
ISO |
|
RGD |
PMID:23528973 PMID:31489946 |
RGD:401793732, RGD:401793758 |
NCBI chr 1:150,809,713...150,876,599
Ensembl chr 1:150,809,713...150,876,708
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G |
ARRB2 |
arrestin beta 2 |
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ISO |
protein:decreased expression:rostral ventrolateral medulla |
RGD |
PMID:27861247 |
RGD:13506896 |
NCBI chr17:4,710,632...4,721,497
Ensembl chr17:4,710,596...4,721,499
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G |
ATF2 |
activating transcription factor 2 |
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ISO |
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RGD |
PMID:11358932 |
RGD:10047414 |
NCBI chr 2:175,072,259...175,168,203
Ensembl chr 2:175,072,250...175,168,382
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G |
ATG7 |
autophagy related 7 |
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ISO |
protein:increased expression:skeletal muscle |
RGD |
PMID:24119246 |
RGD:11557985 |
NCBI chr 3:11,272,397...11,576,353
Ensembl chr 3:11,272,309...11,557,665
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G |
ATOX1 |
antioxidant 1 copper chaperone |
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EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:22753205 |
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NCBI chr 5:151,742,822...151,758,631
Ensembl chr 5:151,742,316...151,772,532
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G |
ATP1A1 |
ATPase Na+/K+ transporting subunit alpha 1 |
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ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23416519 PMID:8082931 |
RGD:1579862 |
NCBI chr 1:116,373,244...116,404,774
Ensembl chr 1:116,372,668...116,410,261
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G |
ATP1A2 |
ATPase Na+/K+ transporting subunit alpha 2 |
susceptibility |
IAGP EXP ISO |
CTD Direct Evidence: marker/mechanism protein:decreased expression:adrenal gland cortex zone |
CTD RGD |
PMID:16166162 PMID:16243970 PMID:11257061 PMID:11768735 PMID:16243970 |
RGD:1601254, RGD:1601253, RGD:1601251 |
NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
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G |
ATP2A3 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 |
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ISO |
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RGD |
PMID:11208768 |
RGD:68726 |
NCBI chr17:3,923,873...3,964,437
Ensembl chr17:3,923,870...3,964,464
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G |
ATP2B1 |
ATPase plasma membrane Ca2+ transporting 1 |
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ISO EXP |
mRNA:increased expression:vascular associated smooth muscle cell CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19430479 PMID:20137670 |
RGD:2317726 |
NCBI chr12:89,588,049...89,709,366
Ensembl chr12:89,588,049...89,709,366
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G |
ATP2B3 |
ATPase plasma membrane Ca2+ transporting 3 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23416519 |
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NCBI chr X:153,517,642...153,582,929
Ensembl chr X:153,517,642...153,582,939
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G |
ATP5F1A |
ATP synthase F1 subunit alpha |
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ISO |
protein:decreased expression:heart left ventricle (rat) |
RGD |
PMID:24388463 |
RGD:7800726 |
NCBI chr18:46,080,248...46,104,227
Ensembl chr18:46,080,248...46,104,334
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G |
ATP6AP2 |
ATPase H+ transporting accessory protein 2 |
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ISO |
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RGD |
PMID:21321306 |
RGD:5132599 |
NCBI chr X:40,580,970...40,606,848
Ensembl chr X:40,579,372...40,606,848
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G |
AVP |
arginine vasopressin |
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ISO EXP |
protein:increased expression:carotid artery CTD Direct Evidence: marker/mechanism protein:increased expression:plasma |
CTD RGD |
PMID:1663982 PMID:3346065 PMID:4040330 PMID:6367368 PMID:19133994 PMID:12623976 PMID:16582573 More...
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RGD:1601305, RGD:1601243 |
NCBI chr20:3,082,556...3,084,724
Ensembl chr20:3,082,556...3,084,724
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G |
AVPR1A |
arginine vasopressin receptor 1A |
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IAGP ISO |
DNA:SNP mRNA, protein:increased expression:paraventricular hypothalamic nucleus mRNA, protein:increased expression:kidney, arteriole |
RGD |
PMID:17653244 PMID:15475662 PMID:15657301 |
RGD:2300319, RGD:2300330, RGD:2300322 |
NCBI chr12:63,142,759...63,151,201
Ensembl chr12:63,142,759...63,151,201
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G |
AVPR2 |
arginine vasopressin receptor 2 |
severity |
ISO |
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RGD |
PMID:12072411 |
RGD:1298694 |
NCBI chr X:153,902,625...153,907,166
Ensembl chr X:153,902,531...153,907,166
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G |
B2M |
beta-2-microglobulin |
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IEP |
protein:increased expression:serum |
RGD |
PMID:15957539 |
RGD:1601306 |
NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851
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G |
BAD |
BCL2 associated agonist of cell death |
treatment |
ISO |
|
RGD |
PMID:20065158 |
RGD:10053702 |
NCBI chr11:64,269,828...64,284,704
Ensembl chr11:64,269,830...64,284,704
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G |
BAX |
BCL2 associated X, apoptosis regulator |
treatment |
ISO |
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RGD |
PMID:20065158 |
RGD:10053702 |
NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
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G |
BCHE |
butyrylcholinesterase |
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IEP |
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RGD |
PMID:12387587 |
RGD:1601322 |
NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
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G |
BCL2 |
BCL2 apoptosis regulator |
treatment |
ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:10075388 PMID:20065158 |
RGD:10053702 |
NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
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G |
BDKRB1 |
bradykinin receptor B1 |
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ISO IAGP |
DNA:polymorphisms:CDS:in American-Caucasians,T allele of SNP8, C allele of SNP12, T allele of SNP13 |
RGD |
PMID:17988733 PMID:12025958 PMID:15643125 |
RGD:5129214, RGD:704378, RGD:1625732 |
NCBI chr14:96,256,210...96,264,763
Ensembl chr14:96,256,210...96,268,967
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G |
BDKRB2 |
bradykinin receptor B2 |
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IAGP EXP ISO IEA |
DNA:SNP:promoter:-58T>C (human) CTD Direct Evidence: marker/mechanism protein:increased expression:spinal cord mRNA:increased expression:hypothalamus |
CTD RGD |
PMID:10614985 PMID:10904024 PMID:11934804 PMID:15118671 PMID:12025958 |
RGD:4891034, RGD:4890455, RGD:1331525, RGD:704378 |
NCBI chr14:96,204,839...96,244,164
Ensembl chr14:96,204,679...96,244,166
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G |
BECN1 |
beclin 1 |
|
ISO |
protein:increased expression:brain |
RGD |
PMID:23499735 |
RGD:11561939 |
NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350
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G |
BMAL2 |
basic helix-loop-helix ARNT like 2 |
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IAGP |
DNA:SNPs: :rs6486121, rs3789327, rs969485(human) |
RGD |
PMID:17728404 |
RGD:2314371 |
NCBI chr12:27,332,836...27,425,286
Ensembl chr12:27,332,836...27,425,289
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G |
BMP2 |
bone morphogenetic protein 2 |
treatment |
ISO |
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RGD |
PMID:33364953 |
RGD:329956421 |
NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246
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G |
BRCA1 |
BRCA1 DNA repair associated |
treatment |
IMP |
|
RGD |
PMID:24239235 |
RGD:8693672 |
NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245
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G |
BRS3 |
bombesin receptor subtype 3 |
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ISO |
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RGD |
PMID:9367152 |
RGD:734661 |
NCBI chr X:136,487,947...136,493,780
Ensembl chr X:136,487,947...136,493,780
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G |
C3 |
complement C3 |
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ISO |
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RGD |
PMID:22416803 |
RGD:11040890 |
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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G |
CACNA1C |
calcium voltage-gated channel subunit alpha1 C |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22949532 |
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NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950
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G |
CACNA2D1 |
calcium voltage-gated channel auxiliary subunit alpha2delta 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22949532 |
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NCBI chr 7:81,946,444...82,443,956
Ensembl chr 7:81,946,444...82,443,956
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G |
CACNB2 |
calcium voltage-gated channel auxiliary subunit beta 2 |
susceptibility |
IAGP |
DNA:SNP: :rs4373814(human) |
RGD |
PMID:24338417 |
RGD:13513987 |
NCBI chr10:18,140,424...18,543,557
Ensembl chr10:18,140,424...18,543,557
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G |
CALCA |
calcitonin related polypeptide alpha |
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EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:1849535 PMID:9887042 |
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NCBI chr11:14,966,668...14,972,351
Ensembl chr11:14,966,622...14,972,354
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G |
CAPN6 |
calpain 6 |
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ISO |
associated with high salt diet; mRNA:decreased expression:heart (rat) |
RGD |
PMID:15665521 |
RGD:405101696 |
NCBI chr X:111,245,099...111,270,483
Ensembl chr X:111,245,099...111,270,483
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G |
CAPN9 |
calpain 9 |
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ISO |
associated with high salt diet; mRNA:decreased expression:heart (rat) |
RGD |
PMID:15665521 |
RGD:405101696 |
NCBI chr 1:230,747,388...230,801,989
Ensembl chr 1:230,747,384...230,802,003
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G |
CASP3 |
caspase 3 |
treatment |
ISO |
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RGD |
PMID:20065158 PMID:27929425 |
RGD:10053702, RGD:13782308 |
NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062
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G |
CASP8 |
caspase 8 |
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ISO |
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RGD |
PMID:27929425 |
RGD:13782308 |
NCBI chr 2:201,233,463...201,287,711
Ensembl chr 2:201,233,443...201,361,836
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G |
CASP9 |
caspase 9 |
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ISO |
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RGD |
PMID:27929425 |
RGD:13782308 |
NCBI chr 1:15,491,401...15,524,912
Ensembl chr 1:15,490,832...15,526,534
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G |
CAST |
calpastatin |
|
ISO |
associated with high salt diet; mRNA:increased expression:heart (rat) |
RGD |
PMID:15665521 |
RGD:405101696 |
NCBI chr 5:95,961,429...96,774,683
Ensembl chr 5:96,525,267...96,779,595 Ensembl chr 5:96,525,267...96,779,595
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G |
CAT |
catalase |
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ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11479740 PMID:20667508 PMID:21593737 PMID:22228705 PMID:16716903 |
RGD:1580833 |
NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
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G |
CAV1 |
caveolin 1 |
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ISO EXP |
protein:increased expression:artery smooth muscle, blood vessel endothelial cell CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:1798635 PMID:17986358 |
RGD:2289116 |
NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
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G |
CBS |
cystathionine beta-synthase |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18224302 |
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NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943
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G |
CCL2 |
C-C motif chemokine ligand 2 |
ameliorates treatment |
ISO EXP |
protein:increased expression:urine associated with Cardiac Fibrosis CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA, protein:increased expression:kidney cortex, urine |
CTD RGD |
PMID:20667508 PMID:27292124 PMID:17989143 PMID:25715999 PMID:17922026 PMID:18459944 More...
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RGD:2307054, RGD:401794570, RGD:8549771, RGD:2307029 |
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
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G |
CCL28 |
C-C motif chemokine ligand 28 |
no_association |
ISO |
protein:increased expression:kidney (rat) mRNA, protein:decreased expression:kidney (rat) |
RGD |
PMID:16840655 PMID:19829664 |
RGD:2298761, RGD:4892132 |
NCBI chr 5:43,356,975...43,412,391
Ensembl chr 5:43,376,645...43,412,391
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G |
CCL5 |
C-C motif chemokine ligand 5 |
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IEP |
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum |
RGD |
PMID:15668187 |
RGD:2307105 |
NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
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G |
CCN2 |
cellular communication network factor 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16685210 |
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NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
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G |
CCNE1 |
cyclin E1 |
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ISO |
protein:increased expression:vascular associated smooth muscle cell |
RGD |
PMID:12847112 |
RGD:2289296 |
NCBI chr19:29,811,991...29,824,312
Ensembl chr19:29,811,991...29,824,312
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G |
CCR5 |
C-C motif chemokine receptor 5 |
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ISO IAGP |
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 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
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G |
CD14 |
CD14 molecule |
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IAGP |
associated with Glomerulonephritis, IGA; DNA:polymorphism: :-159C>T (human) |
RGD |
PMID:22072187 |
RGD:7204129 |
NCBI chr 5:140,631,732...140,633,701
Ensembl chr 5:140,631,728...140,633,700
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G |
CD36 |
CD36 molecule (CD36 blood group) |
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ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18587397 PMID:18587397 |
RGD:2300254 |
NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277
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G |
CD82 |
CD82 molecule |
|
ISO |
mRNA:increased expression:thymus |
RGD |
PMID:10321446 |
RGD:2289422 |
NCBI chr11:44,564,409...44,620,358
Ensembl chr11:44,564,427...44,620,358
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G |
CDKN2A |
cyclin dependent kinase inhibitor 2A |
|
IEP |
protein:increased expression:kidney |
RGD |
PMID:18504326 |
RGD:2316082 |
NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
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G |
CDO1 |
cysteine dioxygenase type 1 |
|
ISO |
protein:decreased expression:brain |
RGD |
PMID:6726227 |
RGD:2301363 |
NCBI chr 5:115,804,733...115,816,659
Ensembl chr 5:115,804,733...115,816,659
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G |
CELA2A |
chymotrypsin like elastase 2A |
|
EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypertension |
CTD ClinVar |
PMID:21602471 PMID:25741868 PMID:31358993 |
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NCBI chr 1:15,456,732...15,472,091
Ensembl chr 1:15,456,728...15,472,091
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G |
CETP |
cholesteryl ester transfer protein |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20511482 |
|
NCBI chr16:56,961,950...56,983,845
Ensembl chr16:56,961,923...56,983,845
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G |
CHGA |
chromogranin A |
no_association |
IAGP ISO |
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 chr14:92,922,664...92,935,285
Ensembl chr14:92,923,150...92,935,285
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G |
CHI3L1 |
chitinase 3 like 1 |
|
ISO |
mRNA:increased expression:brainstem, solitary tract nucleus (rat) |
RGD |
PMID:18703386 |
RGD:4892597 |
NCBI chr 1:203,178,931...203,186,704
Ensembl chr 1:203,178,931...203,186,704
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G |
CHST12 |
carbohydrate sulfotransferase 12 |
|
ISO |
mRNA:decreased expression:renal cortex and medulla (rat) |
RGD |
PMID:25001272 |
RGD:8693701 |
NCBI chr 7:2,403,448...2,448,484
Ensembl chr 7:2,403,588...2,448,484
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G |
CLCNKA |
chloride voltage-gated channel Ka |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18480177 |
|
NCBI chr 1:16,022,036...16,034,050
Ensembl chr 1:16,018,875...16,034,050
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G |
CLCNKB |
chloride voltage-gated channel Kb |
no_association |
IAGP |
DNA:polymorphism:T481S |
RGD |
PMID:15148291 PMID:16003175 |
RGD:1600684, RGD:1600683 |
NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311
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G |
CLDN16 |
claudin 16 |
|
ISO |
Protein:decreased serine phosphorylation:kidney |
RGD |
PMID:16959063 |
RGD:1599616 |
NCBI chr 3:190,290,361...190,412,138
Ensembl chr 3:190,322,541...190,412,138
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G |
CLOCK |
clock circadian regulator |
|
ISO |
mRNA:altered expression:gastrocnemius muscle (rat) |
RGD |
PMID:22076133 |
RGD:9686076 |
NCBI chr 4:55,427,903...55,546,909
Ensembl chr 4:55,427,903...55,546,909
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G |
CLU |
clusterin |
|
IAGP |
DNA:SNP:exon:866C>T (human) |
RGD |
PMID:15925890 |
RGD:1581195 |
NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
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G |
CMA1 |
chymase 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14620933 |
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NCBI chr14:24,505,353...24,508,265
Ensembl chr14:24,505,353...24,508,265
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G |
CNR1 |
cannabinoid receptor 1 |
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ISO |
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RGD |
PMID:19133994 |
RGD:2314680 |
NCBI chr 6:88,139,864...88,167,349
Ensembl chr 6:88,139,864...88,166,347
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G |
COL1A1 |
collagen type I alpha 1 chain |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11682445 |
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NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
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G |
COL3A1 |
collagen type III alpha 1 chain |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11682445 |
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NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
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G |
COL4A5 |
collagen type IV alpha 5 chain |
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IAGP |
ClinVar Annotator: match by term: Hypertension |
ClinVar |
PMID:9848783 PMID:11223851 PMID:12028435 PMID:17396119 PMID:19728970 PMID:19965530 PMID:20378821 PMID:21332469 PMID:21688191 PMID:24077912 PMID:24470729 PMID:25741868 PMID:26467025 PMID:26809805 PMID:26934356 PMID:28492532 PMID:28844315 PMID:29142990 PMID:29526710 PMID:29854973 PMID:30348286 PMID:30586318 PMID:30661074 PMID:30691124 PMID:31850286 PMID:32359821 PMID:33040356 PMID:33226606 PMID:33233744 PMID:33309955 PMID:33854215 PMID:34008892 PMID:35022790 PMID:35643372 More...
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NCBI chr X:108,439,838...108,697,545
Ensembl chr X:108,439,838...108,697,545
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G |
COL6A3 |
collagen type VI alpha 3 chain |
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IAGP |
DNA:SNP:CDS:E1386K (rs146092501) (human) |
RGD |
PMID:30226566 |
RGD:401851058 |
NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328
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G |
COMT |
catechol-O-methyltransferase |
susceptibility |
ISO IAGP |
protein:increased expression:cerebral cortex DNA:polymorphism: :-1187G>C, 186C>T |
RGD |
PMID:14714585 PMID:17510509 PMID:17978496 PMID:17143180 |
RGD:2289787, RGD:8662344, RGD:2289729, RGD:2289742 |
NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
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G |
CORIN |
corin, serine peptidase |
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IAGP |
DNA:SNPs:associated with increased risk |
RGD |
PMID:17485366 PMID:16216958 |
RGD:1626338, RGD:1581219 |
NCBI chr 4:47,594,001...47,838,067
Ensembl chr 4:47,593,999...47,838,106
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G |
COX5B |
cytochrome c oxidase subunit 5B |
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ISO |
protein:decreased expression:heart left ventricle |
RGD |
PMID:16132109 |
RGD:2301377 |
NCBI chr 2:97,646,062...97,648,383
Ensembl chr 2:97,646,062...97,648,383
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G |
CPS1 |
carbamoyl-phosphate synthase 1 |
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ISO |
protein:decreased expression:liver, mitochondrion |
RGD |
PMID:19135993 |
RGD:2303405 |
NCBI chr 2:210,477,685...210,679,107
Ensembl chr 2:210,477,682...210,679,107
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G |
CREB1 |
cAMP responsive element binding protein 1 |
treatment |
ISO |
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RGD |
PMID:21697807 |
RGD:10059385 |
NCBI chr 2:207,529,962...207,605,988
Ensembl chr 2:207,529,737...207,605,988
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G |
CRHR1 |
corticotropin releasing hormone receptor 1 |
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ISO |
corticotropin releasing hormone-induced |
RGD |
PMID:11036160 |
RGD:1581302 |
NCBI chr17:45,784,320...45,835,828
Ensembl chr17:45,784,277...45,835,828
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G |
CRHR2 |
corticotropin releasing hormone receptor 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10742107 |
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NCBI chr 7:30,651,942...30,700,103
Ensembl chr 7:30,651,942...30,700,129
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G |
CRP |
C-reactive protein |
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ISO EXP IDA IEP |
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism protein:increased expression:serum: |
CTD RGD |
PMID:14620923 PMID:16680063 PMID:19770776 PMID:20667508 PMID:19905982 PMID:19056836 PMID:6720266 More...
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RGD:5131461, RGD:9586008, RGD:9491754 |
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
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G |
CTF1 |
cardiotrophin 1 |
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IEP ISO |
protein:increased expression:plasma mRNA:increased expression:cardiac ventricle |
RGD |
PMID:15716706 PMID:8604995 |
RGD:1626411, RGD:69823 |
NCBI chr16:30,895,846...30,903,560
Ensembl chr16:30,896,614...30,903,547
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G |
CTSC |
cathepsin C |
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ISO |
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RGD |
PMID:657443 |
RGD:1599651 |
NCBI chr11:88,293,592...88,337,736
Ensembl chr11:88,265,069...88,359,684
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G |
CXCL2 |
C-X-C motif chemokine ligand 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22352330 |
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NCBI chr 4:74,097,040...74,099,195
Ensembl chr 4:74,097,040...74,099,196
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G |
CXCR2 |
C-X-C motif chemokine receptor 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27678262 |
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NCBI chr 2:218,125,294...218,137,251
Ensembl chr 2:218,125,289...218,137,251
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G |
CYBA |
cytochrome b-245 alpha chain |
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ISO EXP IAGP |
protein:increased expression:kidney cortex CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16685210 PMID:17324946 PMID:20505675 PMID:32147540 PMID:20018820 PMID:17109653 PMID:12729892 More...
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RGD:2317853, RGD:4775206, RGD:1580276 |
NCBI chr16:88,643,289...88,651,053
Ensembl chr16:88,643,275...88,651,083
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G |
CYBB |
cytochrome b-245 beta chain |
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ISO EXP |
Protein:increased expression:brain CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16685210 PMID:21593737 PMID:27659729 PMID:27847271 PMID:32147540 PMID:32165127 PMID:12472782 More...
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RGD:1599685 |
NCBI chr X:37,780,059...37,813,461
Ensembl chr X:37,780,018...37,813,461
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G |
CYP11A1 |
cytochrome P450 family 11 subfamily A member 1 |
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ISO |
mRNA:increased expression:hypothalamus |
RGD |
PMID:16116051 |
RGD:1599701 |
NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646
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G |
CYP11B1 |
cytochrome P450 family 11 subfamily B member 1 |
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ISO |
mRNA:decreased expression:hypothalamus, cerebellum, cortex (rat) |
RGD |
PMID:19837774 |
RGD:4891156 |
NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,356...142,879,846
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G |
CYP11B2 |
cytochrome P450 family 11 subfamily B member 2 |
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IAGP ISO |
DNA:transition:5' utr:-344C>T (human) ClinVar Annotator: match by term: Aldosterone to renin ratio, increased mRNA:increased expression:brainstem, hippocampus, cortex (rat) |
ClinVar RGD |
PMID:12213905 PMID:12788845 PMID:17003099 PMID:10024332 PMID:18495825 PMID:19837774 More...
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RGD:4891152, RGD:2307304, RGD:4891156 |
NCBI chr 8:142,910,559...142,917,843
Ensembl chr 8:142,910,559...142,917,843
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G |
CYP19A1 |
cytochrome P450 family 19 subfamily A member 1 |
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ISO |
mRNA:decreased expression:ovary (rat) |
RGD |
PMID:19228890 |
RGD:4761326 |
NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601
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G |
CYP1A1 |
cytochrome P450 family 1 subfamily A member 1 |
treatment |
ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20634294 PMID:22995157 PMID:20634294 PMID:31489946 PMID:23528973 PMID:30127255 More...
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RGD:7257731, RGD:401793758, RGD:401793732, RGD:401793709 |
NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536
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G |
CYP1B1 |
cytochrome P450 family 1 subfamily B member 1 |
treatment |
ISO |
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RGD |
PMID:23528973 |
RGD:401793732 |
NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902
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G |
CYP2C18 |
cytochrome P450 family 2 subfamily C member 18 |
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ISO |
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RGD |
PMID:18829737 |
RGD:6903915 |
NCBI chr10:94,683,729...94,736,190
Ensembl chr10:94,683,729...94,736,190
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G |
CYP2C9 |
cytochrome P450 family 2 subfamily C member 9 |
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IAGP ISO IDA |
associated with Diabetes Mellitus, Insulin-Dependent; DNA:polymorphism:cds:I359L (human) |
RGD |
PMID:17305793 PMID:18829737 PMID:19669737 |
RGD:2307150, RGD:6903915, RGD:6903909 |
NCBI chr10:94,938,658...94,990,091
Ensembl chr10:94,938,658...94,990,091
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G |
CYP2J2 |
cytochrome P450 family 2 subfamily J member 2 |
susceptibility |
IAGP IMP |
DNA:SNP |
RGD |
PMID:17286575 PMID:20501636 |
RGD:1625379, RGD:7243136 |
NCBI chr 1:59,893,308...59,969,212
Ensembl chr 1:59,893,308...59,926,773
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G |
CYP2R1 |
cytochrome P450 family 2 subfamily R member 1 |
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IAGP |
DNA:SNP:CDS: rs12794714 (human) DNA:SNP:CDS:rs12794714 (human) DNA:SNP:CDS:rs10741657|rs12794714 (human) DNA:SNP:CDS:rs1993116|rs10741657 (human) |
RGD |
PMID:34906413 PMID:24974252 PMID:28760944 PMID:30192652 |
RGD:401900724, RGD:401901148, RGD:401901082, RGD:401901076 |
NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,231
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G |
CYP4A11 |
cytochrome P450 family 4 subfamily A member 11 |
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IAGP |
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RGD |
PMID:16144986 |
RGD:1625567 |
NCBI chr 1:46,929,188...46,941,476
Ensembl chr 1:46,929,177...46,941,484
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G |
CYP4A22 |
cytochrome P450 family 4 subfamily A member 22 |
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ISO |
mRNA:decreased expression:kidney cortex |
RGD |
PMID:16339392 PMID:18952718 |
RGD:2303381 RGD:2303383 |
NCBI chr 1:47,137,441...47,149,727
Ensembl chr 1:47,137,435...47,149,727
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G |
CYP4F12 |
cytochrome P450 family 4 subfamily F member 12 |
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ISO |
mRNA:increased expression:kidney |
RGD |
PMID:16182239 |
RGD:2301709 |
NCBI chr19:15,673,087...15,697,174
Ensembl chr19:15,673,018...15,697,174
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G |
CYP4F2 |
cytochrome P450 family 4 subfamily F member 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30932691 |
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NCBI chr19:15,878,023...15,898,074
Ensembl chr19:15,878,023...15,898,077
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G |
DARS2 |
aspartyl-tRNA synthetase 2, mitochondrial |
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IAGP |
ClinVar Annotator: match by term: Hypertension |
ClinVar |
PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 PMID:23652419 PMID:24005482 PMID:24407472 PMID:24566671 PMID:25525159 PMID:25741868 PMID:28492532 PMID:31589614 PMID:33977142 PMID:34426522 PMID:35379322 More...
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NCBI chr 1:173,824,673...173,858,546
Ensembl chr 1:173,824,653...173,858,808
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G |
DBH |
dopamine beta-hydroxylase |
resistance |
ISO IAGP |
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 9:133,636,363...133,659,329
Ensembl chr 9:133,636,363...133,659,329
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G |
DDAH1 |
dimethylarginine dimethylaminohydrolase 1 |
susceptibility |
IAGP |
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RGD |
PMID:16444868 |
RGD:1625582 |
NCBI chr 1:85,318,485...85,578,200
Ensembl chr 1:85,318,481...85,578,363
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G |
DIO2 |
iodothyronine deiodinase 2 |
susceptibility |
IAGP |
protein:substitution:Thr92Ala |
RGD |
PMID:17224473 |
RGD:1626437 |
NCBI chr14:80,197,526...80,231,057
Ensembl chr14:80,197,526...80,387,757
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G |
DRD1 |
dopamine receptor D1 |
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ISO IAGP |
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RGD |
PMID:8636408 PMID:10948075 |
RGD:1300303, RGD:1580869 |
NCBI chr 5:175,440,036...175,444,182
Ensembl chr 5:175,440,036...175,444,182
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G |
DRD2 |
dopamine receptor D2 |
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IAGP EXP |
DNA:polymorphism CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11566895 PMID:15939106 PMID:11494094 |
RGD:1600905, RGD:1580874 |
NCBI chr11:113,409,605...113,475,398
Ensembl chr11:113,409,605...113,475,691
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G |
DRD3 |
dopamine receptor D3 |
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ISO |
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RGD |
PMID:9691085 PMID:11675403 |
RGD:1580882 RGD:734898 |
NCBI chr 3:114,127,580...114,199,407
Ensembl chr 3:114,127,580...114,199,407
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G |
DRD5 |
dopamine receptor D5 |
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ISO |
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RGD |
PMID:12486173 |
RGD:1580887 |
NCBI chr 4:9,781,634...9,784,009
Ensembl chr 4:9,781,634...9,784,009
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G |
DUSP1 |
dual specificity phosphatase 1 |
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ISO |
mRNA, protein:increased expression:aorta |
RGD |
PMID:9231829 |
RGD:2298678 |
NCBI chr 5:172,768,096...172,771,195
Ensembl chr 5:172,768,096...172,771,195
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G |
DUSP5 |
dual specificity phosphatase 5 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25397684 |
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NCBI chr10:110,497,907...110,511,533
Ensembl chr10:110,497,907...110,511,533
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G |
DYNLL1 |
dynein light chain LC8-type 1 |
treatment |
ISO |
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RGD |
PMID:24035314 |
RGD:13207430 |
NCBI chr12:120,469,842...120,498,493
Ensembl chr12:120,469,850...120,498,493
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G |
ECE1 |
endothelin converting enzyme 1 |
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IAGP EXP ISO |
CTD Direct Evidence: marker/mechanism mRNA,protein:increased expression,increased activity:kidney medulla |
CTD RGD |
PMID:12566389 PMID:15126915 PMID:10894793 |
RGD:1580904, RGD:7244182 |
NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572
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G |
EDN1 |
endothelin 1 |
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ISO EXP IMP IEP IAGP |
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 RGD |
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 More...
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RGD:4144829, RGD:8661804, RGD:2313283, RGD:1625065 |
NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
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G |
EDN2 |
endothelin 2 |
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IEP IAGP |
mRNA:increased expression:leukocyte |
RGD |
PMID:15007037 PMID:10976780 PMID:10489105 |
RGD:1625402, RGD:1580916, RGD:1580917 |
NCBI chr 1:41,478,775...41,484,683
Ensembl chr 1:41,478,775...41,484,683
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G |
EDN3 |
endothelin 3 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2059916 |
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NCBI chr20:59,300,611...59,325,992
Ensembl chr20:59,300,443...59,325,992
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G |
EDNRA |
endothelin receptor type A |
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ISO EXP IAGP |
associated with Uremia CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12600921 PMID:20144075 PMID:14616768 |
RGD:4892284, RGD:1580950 |
NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954
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G |
EDNRB |
endothelin receptor type B |
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ISO |
associated with Uremia |
RGD |
PMID:20144075 PMID:10749572 |
RGD:4892284, RGD:628518 |
NCBI chr13:77,895,487...77,975,527
Ensembl chr13:77,895,481...77,975,529
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EGFR |
epidermal growth factor receptor |
|
ISO |
mRNA, protein:increased expression:renal cortex |
RGD |
PMID:15827348 |
RGD:1580953 |
NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
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G |
EGLN1 |
egl-9 family hypoxia inducible factor 1 |
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ISO |
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RGD |
PMID:22686466 |
RGD:11252087 |
NCBI chr 1:231,363,756...231,422,287
Ensembl chr 1:231,363,751...231,422,287
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G |
EIF4G2 |
eukaryotic translation initiation factor 4 gamma 2 |
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ISO |
mRNA:increased expression:heart left ventricle |
RGD |
PMID:12708758 |
RGD:10755511 |
NCBI chr11:10,797,046...10,808,926
Ensembl chr11:10,797,050...10,808,940
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G |
ELN |
elastin |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17039479 |
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NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
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G |
EMILIN1 |
elastin microfibril interfacer 1 |
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ISO |
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RGD |
PMID:16530041 |
RGD:1580958 |
NCBI chr 2:27,078,615...27,086,403
Ensembl chr 2:27,078,615...27,086,403
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G |
ENG |
endoglin |
|
ISO |
mRNA:decreased expression:kidney (rat) |
RGD |
PMID:19829664 |
RGD:4892132 |
NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773
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G |
ENO1 |
enolase 1 |
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ISO |
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RGD |
PMID:16485256 |
RGD:1598909 |
NCBI chr 1:8,861,000...8,878,686
Ensembl chr 1:8,861,000...8,879,190
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G |
ENO2 |
enolase 2 |
severity |
IEP |
protein:increased expression:serum |
RGD |
PMID:21130083 |
RGD:5508770 |
NCBI chr12:6,914,580...6,923,697
Ensembl chr12:6,913,745...6,923,698
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G |
ENTPD2 |
ectonucleoside triphosphate diphosphohydrolase 2 |
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ISO |
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RGD |
PMID:20655932 |
RGD:9685529 |
NCBI chr 9:137,048,107...137,054,061
Ensembl chr 9:137,048,107...137,054,061
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G |
EP300 |
E1A binding protein p300 |
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ISO |
protein:increased expression:left ventricle (rat) |
RGD |
PMID:18292809 |
RGD:2312265 |
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
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G |
EPHX2 |
epoxide hydrolase 2 |
susceptibility |
ISO IAGP |
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 chr 8:27,491,143...27,548,626
Ensembl chr 8:27,490,781...27,545,564
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G |
EPO |
erythropoietin |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1516988 PMID:10694834 |
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NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
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G |
EPOR |
erythropoietin receptor |
susceptibility |
IEP |
induced by erythropoietin; |
RGD |
PMID:19458615 |
RGD:11041646 |
NCBI chr19:11,377,207...11,384,314
Ensembl chr19:11,377,207...11,384,342
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G |
ERAP1 |
endoplasmic reticulum aminopeptidase 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:13678427 |
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NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100
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G |
ESR2 |
estrogen receptor 2 |
|
ISO IAGP |
|
RGD |
PMID:11799247 PMID:23608653 PMID:15167447 PMID:11185739 |
RGD:734949, RGD:7364951, RGD:1581017, RGD:1581015 |
NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112
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G |
F11 |
coagulation factor XI |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6383834 |
|
NCBI chr 4:186,266,189...186,289,681
Ensembl chr 4:186,266,189...186,289,681
|
|
G |
F11R |
F11 receptor |
susceptibility |
IAGP ISO |
DNA:SNPs: :rs790056, rs2774276 (human) |
RGD |
PMID:18067551 PMID:17420334 |
RGD:7488938, RGD:7488939 |
NCBI chr 1:160,995,211...161,021,152
Ensembl chr 1:160,995,211...161,021,175
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|
G |
F12 |
coagulation factor XII |
|
EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypertension |
CTD ClinVar |
PMID:6383834 PMID:16638441 PMID:25741868 |
|
NCBI chr 5:177,402,141...177,409,564
Ensembl chr 5:177,402,133...177,416,583
|
|
G |
F2R |
coagulation factor II thrombin receptor |
|
ISO |
|
RGD |
PMID:9168786 |
RGD:1581034 |
NCBI chr 5:76,716,126...76,735,770
Ensembl chr 5:76,716,126...76,735,770
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|
G |
F3 |
coagulation factor III, tissue factor |
treatment |
ISO |
|
RGD |
PMID:21423288 |
RGD:11341709 |
NCBI chr 1:94,529,173...94,541,759
Ensembl chr 1:94,529,173...94,541,759
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|
G |
F7 |
coagulation factor VII |
|
IEP ISO IDA |
protein:increased activity:plasma (human) protein:increased activity:plasma (rat) |
RGD |
PMID:8123879 PMID:812575 PMID:10450539 |
RGD:2312412, RGD:2312323, RGD:2312402 |
NCBI chr13:113,105,788...113,120,685
Ensembl chr13:113,105,788...113,120,685
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|
G |
FABP1 |
fatty acid binding protein 1 |
|
IEP |
protein:increased excretion:urine:possibly related to arteriosclerosis (MeSH:D001161) |
RGD |
PMID:15830271 |
RGD:1626441 |
NCBI chr 2:88,122,982...88,128,062
Ensembl chr 2:88,122,982...88,128,062
|
|
G |
FABP3 |
fatty acid binding protein 3 |
susceptibility |
IAGP |
DNA:SNPs |
RGD |
PMID:18437121 |
RGD:2307331 |
NCBI chr 1:31,359,588...31,373,076
Ensembl chr 1:31,365,253...31,376,850
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|
G |
FADD |
Fas associated via death domain |
treatment |
ISO |
|
RGD |
PMID:24355328 |
RGD:11344883 |
NCBI chr11:70,203,296...70,207,390
Ensembl chr11:70,203,296...70,207,390
|
|
G |
FADS1 |
fatty acid desaturase 1 |
|
ISO |
|
RGD |
PMID:12144877 |
RGD:1625415 |
NCBI chr11:61,799,627...61,817,003
Ensembl chr11:61,799,627...61,829,318
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|
G |
FAH |
fumarylacetoacetate hydrolase |
|
ISO |
mRNA:decreased expression:kidney |
RGD |
PMID:15731461 |
RGD:1559295 |
NCBI chr15:80,152,789...80,186,949
Ensembl chr15:80,152,490...80,186,946
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|
G |
FBN1 |
fibrillin 1 |
|
ISO |
protein:increased expression:renal glomerulus (rat) |
RGD |
PMID:16380460 |
RGD:7365080 |
NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
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|
G |
FGF2 |
fibroblast growth factor 2 |
|
ISO |
associated with Aortic Coarctation |
RGD |
PMID:17562191 |
RGD:8655614 |
NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...122,898,236
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G |
FGF21 |
fibroblast growth factor 21 |
|
EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:29706566 |
|
NCBI chr19:48,755,524...48,758,330
Ensembl chr19:48,755,524...48,758,333
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|
G |
FMO3 |
flavin containing dimethylaniline monoxygenase 3 |
no_association |
IAGP |
DNA:polymorphism:CDS:no association with any of the four common genotypes or haplotypes in a Caucasian population DNA:nonsense mutation:CDS:amino acid E305X, associated with trimethylaminuria, OMIM:602079 |
RGD |
PMID:16324215 PMID:9536088 |
RGD:1626466, RGD:1626461 |
NCBI chr 1:171,090,905...171,117,819
Ensembl chr 1:171,090,901...171,117,819
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G |
FN1 |
fibronectin 1 |
|
EXP ISO |
CTD Direct Evidence: marker/mechanism mRNA:increased expression:kidney (SHRSP/A3N rat) |
CTD RGD |
PMID:11682445 PMID:17324946 PMID:11907153 PMID:11682445 |
RGD:28912746, RGD:30296650 |
NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
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|
G |
FNDC5 |
fibronectin type III domain containing 5 |
|
EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:32165127 |
|
NCBI chr 1:32,862,268...32,872,484
Ensembl chr 1:32,862,268...32,872,482
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|
G |
FOS |
Fos proto-oncogene, AP-1 transcription factor subunit |
|
ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12044476 PMID:24039778 PMID:16696897 |
RGD:7242185 |
NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,282,230
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|
G |
FOXP3 |
forkhead box P3 |
treatment |
ISO |
|
RGD |
PMID:24420551 |
RGD:38549366 |
NCBI chr X:49,250,438...49,264,710
Ensembl chr X:49,250,438...49,264,800
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|
G |
FTO |
FTO alpha-ketoglutarate dependent dioxygenase |
|
ISO IAGP |
associated with Obesity DNA:SNP:intron:rs9302652 (human) |
RGD |
PMID:31801409 PMID:20031594 |
RGD:329812016, RGD:329901765 |
NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512
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|
G |
FXYD2 |
FXYD domain containing ion transport regulator 2 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22228705 |
|
NCBI chr11:117,820,057...117,828,089
Ensembl chr11:117,800,844...117,828,698
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G |
GABBR1 |
gamma-aminobutyric acid type B receptor subunit 1 |
|
ISO |
mRNA:increased expression:brain |
RGD |
PMID:18338268 |
RGD:2315462 |
NCBI chr 6:29,602,238...29,633,183
Ensembl chr 6:29,555,629...29,633,976
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G |
GAD1 |
glutamate decarboxylase 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32165127 |
|
NCBI chr 2:170,813,210...170,861,151
Ensembl chr 2:170,813,213...170,861,151
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|
G |
GAL |
galanin and GMAP prepropeptide |
|
ISO |
mRNA:decreased expression:paraventricular hypothalamic nucleus, solitary tract nucleus |
RGD |
PMID:15275958 |
RGD:1624333 |
NCBI chr11:68,684,544...68,691,175
Ensembl chr11:68,683,779...68,691,175
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|
G |
GATA5 |
GATA binding protein 5 |
susceptibility |
IAGP |
DNA:SNPs:intron, exon:rs6061245,rs6587239 (human) |
RGD |
PMID:26617239 |
RGD:11343485 |
NCBI chr20:62,463,497...62,475,995
Ensembl chr20:62,463,497...62,475,995
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G |
GCG |
glucagon |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22228705 |
|
NCBI chr 2:162,142,882...162,152,247
Ensembl chr 2:162,142,882...162,152,404
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G |
GCH1 |
GTP cyclohydrolase 1 |
treatment sexual_dimorphism |
EXP IMP ISO IAGP |
CTD Direct Evidence: marker/mechanism mRNA:decreased expression:aorta DNA:SNV:3' UTR: 59038C>T (rs841, +243C>T) (human) |
CTD RGD |
PMID:12855421 PMID:12925450 PMID:33857222 PMID:15167268 PMID:12623977 PMID:17717598 More...
|
RGD:401700397, RGD:401700394, RGD:329970288, RGD:329961330, RGD:329961329 |
NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826
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|
G |
GCK |
glucokinase |
susceptibility |
IAGP |
|
RGD |
PMID:9324112 |
RGD:1581877 |
NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170
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|
G |
GCLC |
glutamate-cysteine ligase catalytic subunit |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22228705 |
|
NCBI chr 6:53,497,341...53,545,101
Ensembl chr 6:53,497,341...53,616,970
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G |
GHSR |
growth hormone secretagogue receptor |
|
ISO |
associated with Obesity |
RGD |
PMID:24760503 |
RGD:12910115 |
NCBI chr 3:172,443,291...172,448,456
Ensembl chr 3:172,443,291...172,448,456
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|
G |
GJA1 |
gap junction protein alpha 1 |
treatment |
ISO EXP |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD RGD |
PMID:16448880 PMID:36720419 PMID:16448880 PMID:23719203 |
RGD:7207810, RGD:8662439 |
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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G |
GJA4 |
gap junction protein alpha 4 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16448880 |
|
NCBI chr 1:34,792,999...34,795,747
Ensembl chr 1:34,792,999...34,795,747
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G |
GJA5 |
gap junction protein alpha 5 |
treatment |
ISO EXP |
CTD Direct Evidence: marker/mechanism protein:decreased expression:artery endothelium |
CTD RGD |
PMID:19109587 PMID:19686729 PMID:11821709 |
RGD:7207417, RGD:7207848 |
NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362
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G |
GJC1 |
gap junction protein gamma 1 |
|
EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:19109587 |
|
NCBI chr17:44,794,104...44,831,364
Ensembl chr17:44,798,448...44,830,816
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G |
GLCE |
glucuronic acid epimerase |
|
IAGP |
DNA:SNP: : rs3865014 (human) |
RGD |
PMID:27699767 |
RGD:401717571 |
NCBI chr15:69,160,635...69,272,207
Ensembl chr15:69,160,584...69,272,217
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G |
GLP1R |
glucagon like peptide 1 receptor |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22228705 |
|
NCBI chr 6:39,048,781...39,091,303
Ensembl chr 6:39,048,781...39,091,303
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G |
GNAI2 |
G protein subunit alpha i2 |
treatment |
ISO |
|
RGD |
PMID:27912212 PMID:15106810 |
RGD:13507308, RGD:13508592 |
NCBI chr 3:50,227,068...50,263,358
Ensembl chr 3:50,226,292...50,259,362
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G |
GNAI3 |
G protein subunit alpha i3 |
treatment |
ISO |
|
RGD |
PMID:15106810 |
RGD:13508592 |
NCBI chr 1:109,548,615...109,600,195
Ensembl chr 1:109,548,615...109,600,195
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G |
GNAS |
GNAS complex locus |
|
IAGP EXP IEA |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:9506701 PMID:12215464 PMID:15118671 |
RGD:1580404, RGD:1331525 |
NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
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G |
GNB3 |
G protein subunit beta 3 |
no_association susceptibility |
IAGP EXP |
DNA:polymorphism: :multiple (human) CTD Direct Evidence: marker/mechanism DNA:SNP:cds: 825C>T (human) DNA:SNP:cds:825C>T (human) |
CTD RGD |
PMID:15961981 PMID:16141801 PMID:16908025 PMID:11230982 PMID:10526907 |
RGD:2313206, RGD:1580408, RGD:1580410 |
NCBI chr12:6,840,925...6,847,393
Ensembl chr12:6,839,954...6,847,393
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|
G |
GNRH1 |
gonadotropin releasing hormone 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6350720 |
|
NCBI chr 8:25,419,258...25,425,040
Ensembl chr 8:25,419,258...25,424,654
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|
G |
GP1BA |
glycoprotein Ib platelet subunit alpha |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22352330 |
|
NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023
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G |
GPX1 |
glutathione peroxidase 1 |
treatment |
IEP ISO EXP |
protein,mRNA:decreased_expression:mononuclear_cells:after treatment, activity increased but mRNA expression decreased further CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21593737 PMID:17198913 PMID:31572179 PMID:21210316 PMID:23752977 |
RGD:1600704, RGD:329956417, RGD:11353777, RGD:11352825 |
NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605
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G |
GPX3 |
glutathione peroxidase 3 |
treatment susceptibility |
ISO IAGP |
DNA:SNP: : rs3828599 (human) DNA:SNP: :rs3828599 (human) |
RGD |
PMID:23528973 PMID:21933611 PMID:32034489 |
RGD:401793732, RGD:401827166, RGD:401827127 |
NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988
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G |
GRK2 |
G protein-coupled receptor kinase 2 |
treatment |
ISO EXP |
protein:increased expression:lymphocyte, vascular associated smooth muscle cell CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11901213 PMID:10642272 PMID:23913704 |
RGD:1625788, RGD:13792716 |
NCBI chr11:67,266,473...67,286,556
Ensembl chr11:67,266,473...67,286,556
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G |
GRK3 |
G protein-coupled receptor kinase 3 |
|
ISO |
mRNA:increased expression:heart left ventricle, kidney (rat) |
RGD |
PMID:26248277 |
RGD:11535540 |
NCBI chr22:25,564,675...25,729,294
Ensembl chr22:25,564,675...25,729,294
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G |
GRK5 |
G protein-coupled receptor kinase 5 |
|
ISO |
mRNA:increased expression:heart left ventricle, kidney (rat) |
RGD |
PMID:26248277 |
RGD:11535540 |
NCBI chr10:119,207,571...119,459,745
Ensembl chr10:119,207,571...119,459,745
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|
G |
GSK3B |
glycogen synthase kinase 3 beta |
treatment |
ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22982863 PMID:22982863 |
RGD:10045670 |
NCBI chr 3:119,821,321...120,094,447
Ensembl chr 3:119,821,321...120,094,994
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|
G |
GSR |
glutathione-disulfide reductase |
treatment |
IEP ISO |
protein,mRNA:decreased_expression:mononuclear_cells:after treatment, activity increased but mRNA expression decreased further |
RGD |
PMID:17198913 PMID:23528973 |
RGD:1600704, RGD:401793732 |
NCBI chr 8:30,678,066...30,727,846
Ensembl chr 8:30,678,066...30,727,846
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G |
GSTA5 |
glutathione S-transferase alpha 5 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22228705 |
|
NCBI chr 6:52,831,692...52,846,245
Ensembl chr 6:52,831,655...52,840,843
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|
G |
GSTM1 |
glutathione S-transferase mu 1 |
|
ISO |
mRNA:decreased expression:kidney (rat) |
RGD |
PMID:15699453 PMID:12624007 |
RGD:7495838, RGD:631154 |
NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
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|
G |
GSTM2 |
glutathione S-transferase mu 2 |
treatment |
ISO |
|
RGD |
PMID:18008142 PMID:23528973 |
RGD:2302178, RGD:401793732 |
NCBI chr 1:109,668,057...109,683,997
Ensembl chr 1:109,668,022...109,709,551
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|
G |
GSTP1 |
glutathione S-transferase pi 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24915237 |
|
NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
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|
G |
GSTT1 |
glutathione S-transferase theta 1 |
|
IAGP EXP |
associated with scleroderma, systemic;DNA:deletion: : CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22228705 PMID:11477481 PMID:32034489 |
RGD:5490587, RGD:401827127 |
|
|
G |
GSTT2 |
glutathione S-transferase theta 2 (gene/pseudogene) |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22228705 |
|
NCBI chr22:23,980,134...23,983,915
Ensembl chr22:23,980,058...23,983,915
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|
G |
GUCY1A1 |
guanylate cyclase 1 soluble subunit alpha 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18339647 |
|
NCBI chr 4:155,666,848...155,737,059
Ensembl chr 4:155,666,726...155,737,059
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|
G |
H2AX |
H2A.X variant histone |
treatment |
ISO |
|
RGD |
PMID:24239235 |
RGD:8693672 |
NCBI chr11:119,093,874...119,095,465
Ensembl chr11:119,093,874...119,095,465
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|
G |
HAVCR1 |
hepatitis A virus cellular receptor 1 |
|
ISO |
protein:increased expression:urine |
RGD |
PMID:23085980 |
RGD:7245484 |
NCBI chr 5:157,029,413...157,069,407
Ensembl chr 5:157,026,742...157,069,396
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|
G |
HDAC6 |
histone deacetylase 6 |
|
ISO |
protein:increased expression, activity:heart: |
RGD |
PMID:23868068 |
RGD:9681716 |
NCBI chr X:48,801,398...48,824,982
Ensembl chr X:48,801,377...48,824,982
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|
G |
HDAC8 |
histone deacetylase 8 |
|
ISO |
protein:decreased expression:heart (mouse, rat) |
RGD |
PMID:28567090 |
RGD:13208602 |
NCBI chr X:72,329,516...72,572,843
Ensembl chr X:72,329,516...72,573,101
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|
G |
HGF |
hepatocyte growth factor |
susceptibility |
IAGP |
DNA:polymorphism:intron13:C/A |
RGD |
PMID:15127882 |
RGD:1642064 |
NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438
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G |
HIF1A |
hypoxia inducible factor 1 subunit alpha |
|
ISO EXP IEP |
protein:increased expression:brain CTD Direct Evidence: therapeutic Hypertension, Pregnancy-Induced;mRNA, protein:increased expression:placenta associated with Hypercholesterolemia;protein:increased expression:aorta |
CTD RGD |
PMID:22349312 PMID:16955051 PMID:15862159 PMID:11882589 |
RGD:1626317, RGD:1626322, RGD:1626330 |
NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
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|
G |
HK2 |
hexokinase 2 |
treatment |
ISO |
|
RGD |
PMID:31572179 |
RGD:329956417 |
NCBI chr 2:74,834,127...74,893,359
Ensembl chr 2:74,834,127...74,893,359
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|
G |
HLA-DQA1 |
major histocompatibility complex, class II, DQ alpha 1 |
|
IAGP |
DNA:polymorphisms (human) |
RGD |
PMID:11798899 |
RGD:5147807 |
NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
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|
G |
HMGB1 |
high mobility group box 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32147540 |
|
NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597
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|
G |
HMOX1 |
heme oxygenase 1 |
susceptibility treatment |
IAGP EXP IMP ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD RGD |
PMID:16959961 PMID:22349312 PMID:22352330 PMID:12872043 PMID:20836698 PMID:12215473 More...
|
RGD:1598400, RGD:10755717, RGD:1580453 |
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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|
G |
HP |
haptoglobin |
susceptibility onset |
IAGP EXP ISO |
DNA:polymorphism CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16597321 PMID:7606649 PMID:23401751 PMID:8228210 |
RGD:1626351, RGD:7241867, RGD:1626352 |
NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
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G |
HRH2 |
histamine receptor H2 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30310171 |
|
NCBI chr 5:175,658,071...175,710,756
Ensembl chr 5:175,658,030...175,710,756
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G |
HRH3 |
histamine receptor H3 |
|
ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:9050021 PMID:9050021 |
RGD:1626409 |
NCBI chr20:62,214,960...62,220,278
Ensembl chr20:62,214,960...62,220,278
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|
G |
HSD11B1 |
hydroxysteroid 11-beta dehydrogenase 1 |
susceptibility |
EXP IAGP |
CTD Direct Evidence: marker/mechanism DNA:SNP:5'utr: (rs846910) (human) |
CTD RGD |
PMID:9683905 PMID:15199296 PMID:21786805 PMID:15452033 |
RGD:329902060 |
NCBI chr 1:209,686,179...209,734,929
Ensembl chr 1:209,686,178...209,734,949
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G |
HSD11B2 |
hydroxysteroid 11-beta dehydrogenase 2 |
|
IAGP ISO EXP |
apparent mineralocorticoid excess syndrome, OMIM:218030; DNA:transition:CDS:945C->T, amino acid R279C CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:kidney |
CTD RGD |
PMID:7670488 PMID:9683905 PMID:9707624 PMID:11082157 PMID:9683587 PMID:26077568 PMID:10792625 More...
|
RGD:1625078, RGD:13800514, RGD:2308925 |
NCBI chr16:67,429,801...67,437,553
Ensembl chr16:67,430,652...67,437,553
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G |
HSD17B4 |
hydroxysteroid 17-beta dehydrogenase 4 |
|
ISO |
mRNA:decreased expression:renal cortex (rat) |
RGD |
PMID:18430809 |
RGD:2292646 |
NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199
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|
G |
HSD3B1 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 |
susceptibility |
ISO IAGP |
mRNA:increased expression:hypothalamus (rat) DNA:polymorphism:exon |
RGD |
PMID:16116051 PMID:12054649 |
RGD:1599701, RGD:1626438 |
NCBI chr 1:119,507,203...119,515,058
Ensembl chr 1:119,507,198...119,515,054
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G |
HSD3B2 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
|
ISO |
mRNA:decreased expression:ovary (rat) |
RGD |
PMID:19228890 |
RGD:4761326 |
NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035
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G |
HSPA8 |
heat shock protein family A (Hsp70) member 8 |
|
IEP |
mRNA: increased expression: leukocyte |
RGD |
PMID:17341625 |
RGD:6480224 |
NCBI chr11:123,057,489...123,062,462
Ensembl chr11:123,057,489...123,063,230
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G |
HSPD1 |
heat shock protein family D (Hsp60) member 1 |
|
ISO |
mRNA:increased expression:brain, blood vessel |
RGD |
PMID:15729290 PMID:18948349 |
RGD:1624213, RGD:10402862 |
NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
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G |
HSPG2 |
heparan sulfate proteoglycan 2 |
|
ISO |
mRNA:increased expression:aorta |
RGD |
PMID:8225534 |
RGD:1624258 |
NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
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G |
HTR1B |
5-hydroxytryptamine receptor 1B |
|
ISO |
protein:increased expression:aorta |
RGD |
PMID:11882579 |
RGD:1626447 |
NCBI chr 6:77,460,924...77,463,491
Ensembl chr 6:77,460,924...77,463,491
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|
G |
HTR2A |
5-hydroxytryptamine receptor 2A |
no_association susceptibility |
IAGP IEA |
DNA:polymorphism: :g.102T>C DNA:polymorphism: :102T>C |
RGD GAD |
PMID:15659047 PMID:15118671 PMID:11378836 |
RGD:1624371, RGD:1331525, RGD:1624375 |
NCBI chr13:46,831,546...46,898,082
Ensembl chr13:46,831,546...46,897,076
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G |
HTR2B |
5-hydroxytryptamine receptor 2B |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8627522 |
|
NCBI chr 2:231,108,230...231,125,042
Ensembl chr 2:231,108,230...231,125,042
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|
G |
HTRA1 |
HtrA serine peptidase 1 |
treatment |
IAGP ISO |
associated with Macular Degeneration; DNA:snp:cds:g.102C>T (rs1049331) (human) |
RGD |
PMID:21682878 PMID:27847271 |
RGD:7394697, RGD:12910764 |
NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907
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G |
ICAM1 |
intercellular adhesion molecule 1 |
|
IEP EXP |
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12149661 PMID:12425201 PMID:18619052 |
RGD:2312765 |
NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
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G |
IER3 |
immediate early response 3 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20713914 |
|
NCBI chr 6:30,743,199...30,744,547
Ensembl chr 6:30,743,199...30,744,548
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G |
IGF1 |
insulin like growth factor 1 |
severity |
IEP EXP ISO |
CTD Direct Evidence: marker/mechanism|therapeutic mRNA:increased expression:aorta (rat) |
CTD RGD |
PMID:19502719 PMID:22228705 PMID:16431135 PMID:8418983 PMID:15996002 |
RGD:1598427, RGD:12904968, RGD:1580474 |
NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
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G |
IGF1R |
insulin like growth factor 1 receptor |
|
ISO |
protein:increased expression:aorta: |
RGD |
PMID:21854769 |
RGD:10046007 |
NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
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G |
IGFBP2 |
insulin like growth factor binding protein 2 |
|
ISO |
mRNA, protein:decreased expression:liver, plasma |
RGD |
PMID:9396554 |
RGD:1626482 |
NCBI chr 2:216,632,828...216,664,436
Ensembl chr 2:216,632,828...216,664,436
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|
G |
IKBKB |
inhibitor of nuclear factor kappa B kinase subunit beta |
treatment |
ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:27659729 PMID:32147540 PMID:19246475 |
RGD:7495780 |
NCBI chr 8:42,271,302...42,332,460
Ensembl chr 8:42,271,302...42,332,460
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G |
IL10 |
interleukin 10 |
|
ISO |
|
RGD |
PMID:19398662 |
RGD:2311047 |
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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G |
IL17A |
interleukin 17A |
|
IEP |
protein:increased expression:blood serum (human) |
RGD |
PMID:26502942 |
RGD:329955577 |
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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G |
IL1B |
interleukin 1 beta |
|
IEP EXP ISO |
associated with Obesity;protein:increased expression:plasma CTD Direct Evidence: marker/mechanism mRNA, protein:increased expression:aorta, plasma |
CTD RGD |
PMID:27292124 PMID:27659729 PMID:27847271 PMID:32147540 PMID:32165127 PMID:15990729 PMID:21173343 PMID:15894892 More...
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RGD:1626638, RGD:7175338, RGD:1626635 |
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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G |
IL1RN |
interleukin 1 receptor antagonist |
susceptibility |
ISO IAGP |
DNA:polymorphisms |
RGD |
PMID:11585563 PMID:11840488 |
RGD:1626668, RGD:1626667 |
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
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G |
IL6 |
interleukin 6 |
susceptibility |
IDA IEP EXP IAGP |
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) protein:increased expression:blood serum (human) CTD Direct Evidence: marker/mechanism associated with end stage renal disease; DNA:polymorphisms:promoter: -174G>C (human) |
CTD RGD |
PMID:27292124 PMID:27659729 PMID:27847271 PMID:32147540 PMID:32165127 PMID:19043252 PMID:26502942 PMID:12846758 More...
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RGD:2307283, RGD:329955577, RGD:1580485 |
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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G |
IL6R |
interleukin 6 receptor |
severity |
IEP |
Hypertension, Pregnancy-Induced;protein:increased expression:serum |
RGD |
PMID:11778537 |
RGD:1625432 |
NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450
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G |
IL6ST |
interleukin 6 cytokine family signal transducer |
severity |
IEP |
Hypertension, Pregnancy-Induced;protein:increased expression:serum |
RGD |
PMID:11778537 |
RGD:1625432 |
NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022
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G |
INPPL1 |
inositol polyphosphate phosphatase like 1 |
|
IAGP EXP |
DNA:SNPs: :rs2276047,snp8,rs9886(human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15220217 PMID:15220217 |
RGD:1626127 |
NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,701...72,239,147
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G |
INS |
insulin |
|
ISO EXP |
CTD Direct Evidence: marker/mechanism CTD Direct Evidence: marker/mechanism|therapeutic |
CTD RGD |
PMID:9719048 PMID:18360027 PMID:29211853 PMID:9095092 |
RGD:6902896 |
NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
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G |
INVS |
inversin |
|
IAGP |
associated with nephronophthisis 2; |
RGD |
PMID:19177160 |
RGD:155791686 |
NCBI chr 9:100,099,243...100,302,175
Ensembl chr 9:100,099,243...100,302,175
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|
G |
ITGA9 |
integrin subunit alpha 9 |
susceptibility |
IAGP |
DNA:SNP: :rs155524(human) |
RGD |
PMID:20479155 |
RGD:13602005 |
NCBI chr 3:37,452,141...37,823,507
Ensembl chr 3:37,452,115...37,823,507
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G |
ITGAV |
integrin subunit alpha V |
|
ISO |
protein:increased expression:artery |
RGD |
PMID:16380536 |
RGD:1627642 |
NCBI chr 2:186,590,056...186,680,901
Ensembl chr 2:186,590,010...186,680,901
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G |
ITM2B |
integral membrane protein 2B |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22228705 |
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NCBI chr13:48,233,206...48,270,357
Ensembl chr13:48,232,612...48,270,357
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G |
JUN |
Jun proto-oncogene, AP-1 transcription factor subunit |
|
ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:24039778 PMID:11358932 |
RGD:10047414 |
NCBI chr 1:58,780,791...58,784,047
Ensembl chr 1:58,776,845...58,784,048
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G |
KCNA3 |
potassium voltage-gated channel subfamily A member 3 |
|
IEP |
protein:increased activity:T cell (human) |
RGD |
PMID:24524604 |
RGD:401794566 |
NCBI chr 1:110,653,560...110,674,940
Ensembl chr 1:110,653,560...110,674,940
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G |
KCNA5 |
potassium voltage-gated channel subfamily A member 5 |
|
ISO |
mRNA:increased expression:heart |
RGD |
PMID:11358947 |
RGD:1627659 |
NCBI chr12:5,043,879...5,046,788
Ensembl chr12:5,043,879...5,046,788
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G |
KCNAB1 |
potassium voltage-gated channel subfamily A regulatory beta subunit 1 |
|
ISO |
mRNA:increased expression:aorta, arteries (rat) |
RGD |
PMID:11358947 |
RGD:1627659 |
NCBI chr 3:156,118,211...156,539,138
Ensembl chr 3:156,037,701...156,538,756
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G |
KCNJ1 |
potassium inwardly rectifying channel subfamily J member 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22228705 |
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NCBI chr11:128,838,020...128,867,296
Ensembl chr11:128,836,315...128,867,373
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G |
KCNJ11 |
potassium inwardly rectifying channel subfamily J member 11 |
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ISO |
|
RGD |
PMID:15964031 |
RGD:1598644 |
NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331
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G |
KCNJ8 |
potassium inwardly rectifying channel subfamily J member 8 |
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ISO |
|
RGD |
PMID:16051697 |
RGD:1581698 |
NCBI chr12:21,764,955...21,774,706
Ensembl chr12:21,764,955...21,775,600
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G |
KCNMB1 |
potassium calcium-activated channel subfamily M regulatory beta subunit 1 |
|
ISO EXP IAGP |
CTD Direct Evidence: marker/mechanism mRNA, protein:increased expression:aorta, mesenteric artery |
CTD RGD |
PMID:17700361 PMID:14551242 PMID:16814121 PMID:16293791 |
RGD:1298970, RGD:10412046, RGD:1581718 |
NCBI chr 5:170,374,671...170,389,367
Ensembl chr 5:170,374,671...170,389,634
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G |
KCNN4 |
potassium calcium-activated channel subfamily N member 4 |
ameliorates |
IEP ISO |
mRNA, protein:increased expression:CD4-positive, alpha-beta T cell (human) associated with Cardiac Fibrosis protein:increased activity:T cell (human) |
RGD |
PMID:26502942 PMID:25715999 PMID:24524604 |
RGD:329955577, RGD:401794570, RGD:401794566 |
NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976
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G |
KCNQ1 |
potassium voltage-gated channel subfamily Q member 1 |
|
ISO |
DNA:deletion:exon (rat) |
RGD |
PMID:16368876 |
RGD:1581602 |
NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105
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G |
KDR |
kinase insert domain receptor |
treatment |
ISO IAGP |
DNA:polymorphism:cds:p.H472Q(human) |
RGD |
PMID:15838270 PMID:20630084 |
RGD:5684418, RGD:8552374 |
NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
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G |
KIF6 |
kinesin family member 6 |
susceptibility |
IAGP |
DNA:SNP, haplotype: :rs20455 (p.W719R), rs6930913 (human) |
RGD |
PMID:34961832 |
RGD:243048456 |
NCBI chr 6:39,329,990...39,725,408
Ensembl chr 6:39,329,990...39,725,408
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G |
KL |
klotho |
treatment |
ISO |
mRNA,protein:decreased expression:kidney: |
RGD |
PMID:10892340 PMID:21051829 PMID:23225045 |
RGD:1581732, RGD:10403063, RGD:10403062 |
NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143
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G |
KLK1 |
kallikrein 1 |
no_association susceptibility |
IDA EXP IAGP ISO |
CTD Direct Evidence: therapeutic DNA:polymorphisms mRNA:decreased expression:kidney |
CTD RGD |
PMID:14568997 PMID:17272402 PMID:15167446 PMID:15905889 PMID:15809361 |
RGD:1641794, RGD:1581751, RGD:1641795, RGD:1358144 |
NCBI chr19:50,819,146...50,823,787
Ensembl chr19:50,819,146...50,823,787
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G |
KLKB1 |
kallikrein B1 |
|
IEP |
associated with Diabetes Mellitus, Type 1; protein:increased expression:plasma: |
RGD |
PMID:12716755 |
RGD:7327151 |
NCBI chr 4:186,210,853...186,258,471
Ensembl chr 4:186,226,438...186,258,471
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G |
KNG1 |
kininogen 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7027322 |
|
NCBI chr 3:186,717,359...186,744,410
Ensembl chr 3:186,717,348...186,744,410
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G |
KRAS |
KRAS proto-oncogene, GTPase |
|
ISO |
|
RGD |
PMID:15864294 |
RGD:1581757 |
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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G |
KYNU |
kynureninase |
|
ISO |
|
RGD |
PMID:11924719 |
RGD:631322 |
NCBI chr 2:142,877,664...143,055,833
Ensembl chr 2:142,877,657...143,055,833
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G |
LDHA |
lactate dehydrogenase A |
treatment |
ISO |
|
RGD |
PMID:31572179 |
RGD:329956417 |
NCBI chr11:18,394,563...18,408,425
Ensembl chr11:18,394,560...18,408,425
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G |
LEP |
leptin |
|
IAGP EXP ISO |
DNA:SNPs: : CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12050272 PMID:16827954 PMID:25205467 PMID:27226618 PMID:19204185 PMID:20059648 More...
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RGD:5128788, RGD:5128597 |
NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
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G |
LEPR |
leptin receptor |
disease_progression |
IAGP ISO EXP |
DNA:polymorphisms:exons CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22949526 PMID:10999797 PMID:27465994 |
RGD:5129161, RGD:12911217 |
NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
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G |
LGALS3 |
galectin 3 |
treatment |
ISO |
|
RGD |
PMID:23117656 |
RGD:9685203 |
NCBI chr14:55,129,252...55,145,430
Ensembl chr14:55,124,110...55,145,423
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G |
LHB |
luteinizing hormone subunit beta |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6350720 |
|
NCBI chr19:49,015,980...49,019,498
Ensembl chr19:49,015,980...49,017,091
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G |
LIPE |
lipase E, hormone sensitive type |
|
IAGP |
gestational hypertension;DNA:polymorphism:promoter:-60C>G |
RGD |
PMID:17318300 |
RGD:1625026 |
NCBI chr19:42,401,514...42,427,388
Ensembl chr19:42,401,514...42,427,388
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G |
LIPG |
lipase G, endothelial type |
|
ISO |
|
RGD |
PMID:15914124 |
RGD:1581875 |
NCBI chr18:49,561,479...49,599,185
Ensembl chr18:49,560,699...49,599,185
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G |
LOC110673971 |
CYP11B2 promoter |
|
IAGP |
ClinVar Annotator: match by term: Aldosterone to renin ratio, increased |
ClinVar |
PMID:12213905 PMID:12788845 PMID:17003099 |
|
NCBI chr 8:142,917,842...142,919,862
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G |
LOX |
lysyl oxidase |
|
IDA |
|
RGD |
PMID:8562290 |
RGD:1581896 |
NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413
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G |
LPL |
lipoprotein lipase |
|
IAGP EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22228705 PMID:16132104 |
RGD:1580535 |
NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259
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G |
LRP2 |
LDL receptor related protein 2 |
|
ISO |
protein:altered localization:apical plasma membrane |
RGD |
PMID:10919857 |
RGD:1641827 |
NCBI chr 2:169,127,109...169,362,534
Ensembl chr 2:169,127,109...169,362,534
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G |
LTA |
lymphotoxin alpha |
no_association |
IAGP |
|
RGD |
PMID:15533732 |
RGD:1580415 |
NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324
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G |
LTF |
lactotransferrin |
|
EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:24587916 |
|
NCBI chr 3:46,435,645...46,485,234
Ensembl chr 3:46,435,645...46,485,234
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G |
MAP1LC3A |
microtubule associated protein 1 light chain 3 alpha |
|
ISO |
|
RGD |
PMID:23499735 |
RGD:11561939 |
NCBI chr20:34,546,844...34,560,345
Ensembl chr20:34,546,854...34,560,345
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G |
MAPK8 |
mitogen-activated protein kinase 8 |
|
ISO |
|
RGD |
PMID:15302844 |
RGD:1582315 |
NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360
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G |
MAS1 |
MAS1 proto-oncogene, G protein-coupled receptor |
|
ISO |
associated with Sleep Apnea Syndromes |
RGD |
PMID:21040717 |
RGD:5129169 |
NCBI chr 6:159,888,787...159,917,447
Ensembl chr 6:159,890,988...159,917,447
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G |
MC2R |
melanocortin 2 receptor |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11082157 |
|
NCBI chr18:13,882,044...13,915,707
Ensembl chr18:13,882,044...13,915,707
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G |
MDH1 |
malate dehydrogenase 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22228705 |
|
NCBI chr 2:63,588,963...63,607,197
Ensembl chr 2:63,588,609...63,607,197
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G |
MFN2 |
mitofusin 2 |
treatment |
ISO |
protein:decreased expression:aorta (rat) |
RGD |
PMID:27847271 PMID:25464244 |
RGD:12910764, RGD:13204764 |
NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
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G |
MIF |
macrophage migration inhibitory factor |
|
ISO |
|
RGD |
PMID:19799867 |
RGD:4890974 |
NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
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G |
MIR145 |
microRNA 145 |
|
IEP |
miRNA:increased expression:artery wall (human) |
RGD |
PMID:23339529 |
RGD:155260305 |
NCBI chr 5:149,430,646...149,430,733
Ensembl chr 5:149,430,646...149,430,733
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G |
MIR214 |
microRNA 214 |
treatment |
ISO IEP |
RNA:increased expression:kidney |
RGD |
PMID:30049682 PMID:30049682 |
RGD:38500245, RGD:38500245 |
NCBI chr 1:172,138,798...172,138,907
Ensembl chr 1:172,138,798...172,138,907
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G |
MME |
membrane metalloendopeptidase |
treatment |
ISO |
|
RGD |
PMID:12011651 |
RGD:13801039 |
NCBI chr 3:155,024,202...155,183,729
Ensembl chr 3:155,024,124...155,183,704
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G |
MMP1 |
matrix metallopeptidase 1 |
|
IDA IEP |
protein:decreased expression:renal glomerulus (human) |
RGD |
PMID:15363819 PMID:19506087 |
RGD:1582532, RGD:2312464 |
NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
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G |
MMP2 |
matrix metallopeptidase 2 |
|
ISO EXP IDA |
mRNA, protein:increased expression:kidney CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18836702 PMID:17977875 PMID:16840178 |
RGD:2290351, RGD:1582612 |
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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G |
MMP7 |
matrix metallopeptidase 7 |
treatment |
ISO |
|
RGD |
PMID:19398663 PMID:19398663 |
RGD:9685347, RGD:9685347 |
NCBI chr11:102,520,508...102,530,747
Ensembl chr11:102,520,508...102,530,750
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G |
MMP9 |
matrix metallopeptidase 9 |
susceptibility |
IEP EXP IAGP IDA ISO |
protein:decreased expression:internal mammary artery CTD Direct Evidence: marker/mechanism associated with Aneurysm, Dissecting;DNA:polymorphism:promoter:-1562C>T |
CTD RGD |
PMID:21051829 PMID:15363819 PMID:16780738 PMID:16840178 PMID:17977875 |
RGD:1582532, RGD:1642029, RGD:1582612, RGD:2290351 |
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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G |
MOV10 |
Mov10 RNA helicase |
susceptibility |
IAGP |
DNA:SNP: :rs2932538(human) |
RGD |
PMID:24338417 |
RGD:13513987 |
NCBI chr 1:112,674,439...112,700,739
Ensembl chr 1:112,673,141...112,700,756
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G |
MOXD2P |
monooxygenase DBH like 2, pseudogene |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:3814904 |
|
NCBI chr 7:142,240,737...142,247,067
Ensembl chr 7:142,240,740...142,247,067
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G |
MSX2 |
msh homeobox 2 |
|
ISO |
|
RGD |
PMID:18270471 |
RGD:5132616 |
NCBI chr 5:174,724,582...174,730,896
Ensembl chr 5:174,724,582...174,730,896
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G |
MTOR |
mechanistic target of rapamycin kinase |
|
ISO EXP |
protein:increased serine phosphorylation:kidney CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19289642 PMID:23323219 |
RGD:10041025 |
NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
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G |
MTPN |
myotrophin |
|
ISO |
|
RGD |
PMID:12419325 PMID:12031792 |
RGD:632799, RGD:1581046 |
NCBI chr 7:135,926,760...135,977,359
Ensembl chr 7:135,926,760...135,977,359
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G |
MTR |
5-methyltetrahydrofolate-homocysteine methyltransferase |
|
IAGP |
|
RGD |
PMID:15148588 |
RGD:1581050 |
NCBI chr 1:236,795,281...236,903,981
Ensembl chr 1:236,795,260...236,921,278
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G |
MTTP |
microsomal triglyceride transfer protein |
onset |
IAGP |
DNA:polymorphism:promoter:-493G>T |
RGD |
PMID:16328015 |
RGD:1625485 |
NCBI chr 4:99,564,130...99,623,997
Ensembl chr 4:99,564,081...99,623,997
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G |
MYBPH |
myosin binding protein H |
|
ISO |
DNA:missense mutations:cds:p.I?T, p.R?K (rat) |
RGD |
PMID:23460292 |
RGD:12802369 |
NCBI chr 1:203,167,811...203,179,214
Ensembl chr 1:203,167,811...203,175,826
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G |
MYD88 |
MYD88 innate immune signal transduction adaptor |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27292124 |
|
NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024
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G |
MYH7 |
myosin heavy chain 7 |
|
ISO EXP |
protein:decreased expression:heart left ventricle, arteriole CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:32147540 PMID:9686760 |
RGD:9835388 |
NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
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G |
MYO6 |
myosin VI |
|
ISO |
protein:altered localization:renal proximal tubule, microvillus |
RGD |
PMID:16107581 |
RGD:2314963 |
NCBI chr 6:75,749,239...75,919,537
Ensembl chr 6:75,749,201...75,919,537
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G |
MYOD1 |
myogenic differentiation 1 |
|
ISO |
mRNA:decreased expression:gastrocnemius |
RGD |
PMID:22076133 |
RGD:9686076 |
NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136
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G |
NCF1 |
neutrophil cytosolic factor 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16331104 PMID:17324946 PMID:19018797 PMID:32165127 |
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NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315
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G |
NCF2 |
neutrophil cytosolic factor 2 |
|
ISO |
protein:increased expression:heart left ventricle |
RGD |
PMID:19307699 |
RGD:2314430 |
NCBI chr 1:183,555,562...183,601,849
Ensembl chr 1:183,554,461...183,590,905
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G |
NEDD4L |
NEDD4 like E3 ubiquitin protein ligase |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18524855 PMID:23348737 |
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NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540
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G |
NFE2L2 |
NFE2 like bZIP transcription factor 2 |
treatment |
ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:32165127 PMID:23775684 PMID:23528973 |
RGD:10412717, RGD:401793732 |
NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756
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G |
NFKBIA |
NFKB inhibitor alpha |
treatment |
ISO |
|
RGD |
PMID:19246475 |
RGD:7495780 |
NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749
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G |
NGF |
nerve growth factor |
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ISO |
|
RGD |
PMID:10797303 |
RGD:5144109 |
NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
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G |
NGFR |
nerve growth factor receptor |
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ISO |
DNA,protein:missense mutation:CDS:c.28G>A, p.A10T (rat strains: SHR/Izm, SHRSP/Izm, WKHT) |
RGD |
PMID:8762194 |
RGD:5508800 |
NCBI chr17:49,495,293...49,515,008
Ensembl chr17:49,495,293...49,515,008
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G |
NHERF1 |
NHERF family PDZ scaffold protein 1 |
|
ISO |
|
RGD |
PMID:15311100 |
RGD:1580741 |
NCBI chr17:74,748,628...74,769,353
Ensembl chr17:74,748,628...74,769,353
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G |
NHERF2 |
NHERF family PDZ scaffold protein 2 |
|
ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22228705 PMID:15311100 |
RGD:1580741 |
NCBI chr16:2,026,902...2,039,026
Ensembl chr16:2,025,356...2,039,026
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G |
NISCH |
nischarin |
|
ISO |
|
RGD |
PMID:12021582 |
RGD:1581128 |
NCBI chr 3:52,455,604...52,493,068
Ensembl chr 3:52,455,118...52,493,068
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G |
NOS1 |
nitric oxide synthase 1 |
treatment |
ISO |
mRNA:decreased expression:bladder, penis |
RGD |
PMID:20494920 PMID:31489946 PMID:23201071 PMID:16093913 PMID:15913838 PMID:15775788 PMID:17574276 More...
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RGD:5132600, RGD:401793758, RGD:7257668, RGD:1581141, RGD:1581142, RGD:1581143, RGD:1642127 |
NCBI chr12:117,208,142...117,361,626
Ensembl chr12:117,208,142...117,452,170
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G |
NOS2 |
nitric oxide synthase 2 |
|
IAGP EXP ISO |
CTD Direct Evidence: marker/mechanism protein:increased expression, increased activity:kidney |
CTD RGD |
PMID:18605955 PMID:25101153 PMID:27292124 PMID:11702222 PMID:15773227 |
RGD:1298023, RGD:1580264 |
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
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G |
NOS3 |
nitric oxide synthase 3 |
treatment no_association |
ISO EXP IAGP |
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 RGD |
PMID:11457755 PMID:12947532 PMID:16331104 PMID:19008412 PMID:19407804 PMID:18047920 PMID:31489946 PMID:29285068 PMID:29084084 PMID:10981549 PMID:11882615 PMID:9674630 PMID:20813549 More...
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RGD:2292113, RGD:401793758, RGD:13504683, RGD:13446414, RGD:1580278, RGD:1580271, RGD:1580282, RGD:4891993 |
NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
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G |
NOX1 |
NADPH oxidase 1 |
ameliorates |
ISO |
|
RGD |
PMID:16246966 |
RGD:329955580 |
NCBI chr X:100,843,324...100,874,359
Ensembl chr X:100,843,324...100,874,359
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G |
NOX4 |
NADPH oxidase 4 |
|
ISO EXP |
protein:increased expression:aorta, vascular associated smooth muscle cell CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:27659729 PMID:27847271 PMID:32147540 PMID:18418428 PMID:26644237 |
RGD:2324669, RGD:11085830 |
NCBI chr11:89,324,353...89,589,557
Ensembl chr11:89,324,353...89,498,187
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G |
NPHP3 |
nephrocystin 3 |
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IAGP |
associated with nephronophthisis; |
RGD |
PMID:19177160 |
RGD:155791686 |
NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432
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G |
NPPA |
natriuretic peptide A |
|
ISO ISS EXP |
protein:increased expression:plasma: CTD Direct Evidence: marker/mechanism|therapeutic |
MouseDO CTD RGD |
PMID:2526952 PMID:7839143 PMID:8188982 PMID:9869009 PMID:12940879 PMID:19219041 PMID:24039778 PMID:32147540 PMID:20139323 More...
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RGD:7248593 |
NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345
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G |
NPPB |
natriuretic peptide B |
susceptibility treatment |
IAGP EXP ISO |
DNA:repeats CTD Direct Evidence: marker/mechanism|therapeutic |
CTD RGD |
PMID:9194512 PMID:19219041 PMID:24039778 PMID:30310171 PMID:32147540 PMID:17554401 PMID:21403100 PMID:11897768 More...
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RGD:1642191, RGD:5685657, RGD:70484 |
NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945
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G |
NPPC |
natriuretic peptide C |
severity |
IEP IAGP |
associated with Pregnancy Complications;protein:increased expression:plasma |
RGD |
PMID:11775888 PMID:12452325 |
RGD:1642292, RGD:1580150 |
NCBI chr 2:231,921,809...231,926,396
Ensembl chr 2:231,921,809...231,926,396
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G |
NPR1 |
natriuretic peptide receptor 1 |
|
ISO EXP |
DNA:repeat:promoter: (rat) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20881240 PMID:12511524 |
RGD:628585 |
NCBI chr 1:153,678,688...153,693,992
Ensembl chr 1:153,678,688...153,693,992
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G |
NPR3 |
natriuretic peptide receptor 3 |
|
IAGP |
DNA:snp:promoter:g.-55C>A (human) |
RGD |
PMID:12872042 |
RGD:1580175 |
NCBI chr 5:32,690,872...32,791,720
Ensembl chr 5:32,689,070...32,791,724
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G |
NPTN |
neuroplastin |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22228705 |
|
NCBI chr15:73,560,014...73,633,389
Ensembl chr15:73,560,014...73,634,134
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G |
NPY |
neuropeptide Y |
|
ISO IAGP |
DNA:missense mutation:cds:p.L7P (human) |
RGD |
PMID:15699473 PMID:18835922 PMID:11689216 |
RGD:1357410, RGD:10448968, RGD:1580177 |
NCBI chr 7:24,284,190...24,291,862
Ensembl chr 7:24,284,188...24,291,862
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G |
NPY1R |
neuropeptide Y receptor Y1 |
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ISO |
|
RGD |
PMID:15699473 |
RGD:1357410 |
NCBI chr 4:163,323,962...163,344,689
Ensembl chr 4:163,323,962...163,344,832
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G |
NQO1 |
NAD(P)H quinone dehydrogenase 1 |
treatment susceptibility |
ISO IAGP |
DNA:SNP,haplotype:: p.P187S (rs1800566) (human) |
RGD |
PMID:21502369 PMID:25529925 |
RGD:11035215, RGD:401827819 |
NCBI chr16:69,709,401...69,726,560
Ensembl chr16:69,706,996...69,726,668
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G |
NR2F2 |
nuclear receptor subfamily 2 group F member 2 |
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ISO |
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RGD |
PMID:25687237 |
RGD:10401852 |
NCBI chr15:96,326,046...96,340,263
Ensembl chr15:96,325,938...96,340,263
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G |
NR3C1 |
nuclear receptor subfamily 3 group C member 1 |
|
ISO EXP |
associated with fetal nutrition disorder CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18434569 PMID:20659135 PMID:20674672 PMID:20659135 |
RGD:4892208, RGD:7174714 |
NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512
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G |
NUDT1 |
nudix hydrolase 1 |
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ISO |
|
RGD |
PMID:17280880 |
RGD:10449166 |
NCBI chr 7:2,242,226...2,251,145
Ensembl chr 7:2,242,226...2,251,146
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G |
OGG1 |
8-oxoguanine DNA glycosylase |
susceptibility |
IAGP |
DNA:SNP,haplotype::p.S326C (rs1052133) (human) |
RGD |
PMID:25529925 |
RGD:401827819 |
NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219
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G |
OLR1 |
oxidized low density lipoprotein receptor 1 |
|
ISO EXP |
mRNA:increased expression:aorta (rat) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22352330 PMID:9494115 |
RGD:633385 |
NCBI chr12:10,158,301...10,176,266
Ensembl chr12:10,158,301...10,172,138
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G |
OPA1 |
OPA1 mitochondrial dynamin like GTPase |
|
ISO |
protein:increased expression:heart left ventricle (rat) |
RGD |
PMID:24388463 |
RGD:7800726 |
NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811
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G |
ORAI1 |
ORAI calcium release-activated calcium modulator 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19897708 |
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NCBI chr12:121,626,530...121,643,109
Ensembl chr12:121,626,509...121,643,218
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G |
OXSR1 |
oxidative stress responsive kinase 1 |
|
EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:22949526 |
|
NCBI chr 3:38,164,063...38,255,484
Ensembl chr 3:38,165,089...38,255,484
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G |
OXT |
oxytocin/neurophysin I prepropeptide |
|
ISO EXP |
mRNA:decreased expression:paraventricular hypothalamic nucleus CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:9334988 PMID:18562099 PMID:16157794 PMID:18562099 |
RGD:2304174, RGD:2304105 |
NCBI chr20:3,071,620...3,072,517
Ensembl chr20:3,071,620...3,072,517
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G |
OXTR |
oxytocin receptor |
|
ISO |
mRNA:decreased expression:brainstem |
RGD |
PMID:16157794 |
RGD:2304174 |
NCBI chr 3:8,741,269...8,769,613
Ensembl chr 3:8,750,381...8,769,628
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G |
PAPPA |
pappalysin 1 |
|
IEP |
associated with Pregnancy Complications, Cardiovascular;protein:decreased expression:serum |
RGD |
PMID:12224070 |
RGD:1642331 |
NCBI chr 9:116,153,791...116,402,321
Ensembl chr 9:116,153,791...116,402,321
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G |
PDGFB |
platelet derived growth factor subunit B |
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ISO |
|
RGD |
PMID:8869081 |
RGD:10449484 |
NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
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G |
PDGFRA |
platelet derived growth factor receptor alpha |
|
ISO |
|
RGD |
PMID:1657776 |
RGD:11080972 |
NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
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G |
PDGFRB |
platelet derived growth factor receptor beta |
|
ISO |
protein:increased tyrosine phosphorylation:glomerulus |
RGD |
PMID:12047046 PMID:1657776 |
RGD:2292214, RGD:11080972 |
NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
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G |
PGF |
placental growth factor |
|
IEP |
associated with Pregnancy Complications, Cardiovascular;mRNA:decreased expression:placenta |
RGD |
PMID:12808329 |
RGD:1642387 |
NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626
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G |
PIK3R1 |
phosphoinositide-3-kinase regulatory subunit 1 |
|
ISO |
protein:decreased expression:ventricular myocyte (rat) |
RGD |
PMID:18300869 PMID:19015400 |
RGD:4108492, RGD:4108483 |
NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
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G |
PIN1 |
peptidylprolyl cis/trans isomerase, NIMA-interacting 1 |
|
ISO |
|
RGD |
PMID:21810655 |
RGD:8693428 |
NCBI chr19:9,835,318...9,849,689
Ensembl chr19:9,835,257...9,849,689
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G |
PKD1 |
polycystin 1, transient receptor potential channel interacting |
|
IAGP |
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:25333066 PMID:25741868 PMID:26467025 PMID:26632257 PMID:26950445 PMID:27499327 PMID:29801666 PMID:30333007 PMID:31056860 PMID:31738409 PMID:32203225 PMID:32381729 PMID:33532864 More...
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NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898
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G |
PKM |
pyruvate kinase M1/2 |
treatment |
ISO |
|
RGD |
PMID:31572179 |
RGD:329956417 |
NCBI chr15:72,199,029...72,231,591
Ensembl chr15:72,199,029...72,231,819
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G |
PLAT |
plasminogen activator, tissue type |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22352330 |
|
NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709
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G |
PLCD1 |
phospholipase C delta 1 |
|
ISO |
protein:increased activity:aorta protein:increased expression:aorta, arteriole, glomerulus |
RGD |
PMID:1313006 PMID:17198910 |
RGD:2300423, RGD:2300421 |
NCBI chr 3:38,007,496...38,029,642
Ensembl chr 3:38,007,496...38,029,642
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G |
PLEKHA7 |
pleckstrin homology domain containing A7 |
ameliorates |
ISO |
|
RGD |
PMID:25136115 |
RGD:11079199 |
NCBI chr11:16,777,297...17,014,414
Ensembl chr11:16,777,297...17,014,415
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G |
PLG |
plasminogen |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6383834 |
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NCBI chr 6:160,702,193...160,754,097
Ensembl chr 6:160,702,194...160,754,097
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G |
PNMT |
phenylethanolamine N-methyltransferase |
no_association |
ISO IAGP |
protein:decreased activity:adrenal gland (rat) DNA:snps:5' utr:g.-390G>A, g.-184G>A rs876493 (human) DNA:snp:5' utr:g.-390G>A (human) |
RGD |
PMID:20378607 PMID:17645789 PMID:14553966 |
RGD:5130152, RGD:5130172, RGD:5130164 |
NCBI chr17:39,668,019...39,670,475
Ensembl chr17:39,667,981...39,670,475
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|
G |
POMC |
proopiomelanocortin |
|
EXP |
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 More...
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NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
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G |
PON1 |
paraoxonase 1 |
|
IAGP |
DNA:SNP: :rs705379 (human) |
RGD |
PMID:32034489 |
RGD:401827127 |
NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
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G |
POSTN |
periostin |
|
ISO |
associated with Renal Insufficiency, Chronic; protein:increased expression:left ventricle: |
RGD |
PMID:21712488 |
RGD:10041050 |
NCBI chr13:37,562,585...37,598,768
Ensembl chr13:37,562,583...37,598,844
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G |
PPARA |
peroxisome proliferator activated receptor alpha |
treatment |
ISO EXP |
mRNA:increased expression:skeletal muscle CTD Direct Evidence: marker/mechanism|therapeutic |
CTD RGD |
PMID:16054168 PMID:19834340 PMID:19763017 PMID:31489946 PMID:15967866 |
RGD:2313778, RGD:401793758, RGD:1580222 |
NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,755
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G |
PPARG |
peroxisome proliferator activated receptor gamma |
|
IAGP EXP ISO IMP |
CTD Direct Evidence: marker/mechanism|therapeutic protein:decreased expression:rostral ventrolateral medulla (rat) human gene in a mouse model |
CTD RGD |
PMID:15199296 PMID:19666838 PMID:27292124 PMID:12923396 PMID:20404217 PMID:18316027 PMID:18437150 PMID:15970297 More...
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RGD:1580690, RGD:7175297, RGD:2301864, RGD:2301888, RGD:1580684 |
NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
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G |
PPBP |
pro-platelet basic protein |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6192689 PMID:15513305 |
|
NCBI chr 4:73,986,439...73,988,190
Ensembl chr 4:73,986,439...73,988,190
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G |
PPIA |
peptidylprolyl isomerase A |
|
HEP |
mRNA:increased expression:alveolar system (human) |
RGD |
PMID:32496587 |
RGD:150383342 |
NCBI chr 7:44,796,681...44,803,117
Ensembl chr 7:44,796,680...44,824,564
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G |
PRKAG2 |
protein kinase AMP-activated non-catalytic subunit gamma 2 |
|
IAGP |
ClinVar Annotator: match by term: Hypertension |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 7:151,556,127...151,877,115
Ensembl chr 7:151,556,124...151,877,214
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G |
PRKAR1B |
protein kinase cAMP-dependent type I regulatory subunit beta |
|
ISO |
|
RGD |
PMID:11161799 |
RGD:619653 |
NCBI chr 7:549,197...728,934
Ensembl chr 7:549,197...727,650
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G |
PRKCA |
protein kinase C alpha |
|
ISO |
|
RGD |
PMID:15792354 |
RGD:1581271 |
NCBI chr17:66,302,613...66,810,743
Ensembl chr17:66,302,613...66,810,743
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G |
PRKCB |
protein kinase C beta |
|
ISO |
|
RGD |
PMID:15804434 |
RGD:1625513 |
NCBI chr16:23,835,983...24,220,611
Ensembl chr16:23,835,983...24,220,611
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G |
PRKCD |
protein kinase C delta |
|
IEP EXP ISO |
protein:increased expression:heart, fibroblast CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23973649 PMID:10756122 PMID:15792354 |
RGD:1642534, RGD:1581271 |
NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
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G |
PRKCE |
protein kinase C epsilon |
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ISO |
|
RGD |
PMID:15792354 |
RGD:1581271 |
NCBI chr 2:45,651,279...46,187,990
Ensembl chr 2:45,651,345...46,187,990
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G |
PRKG1 |
protein kinase cGMP-dependent 1 |
|
ISO |
mRNA, protein:splice variant, alternative form:basilar artery |
RGD |
PMID:14512447 |
RGD:7775067 |
NCBI chr10:50,990,888...52,298,350
Ensembl chr10:50,990,888...52,298,423
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G |
PRLHR |
prolactin releasing hormone receptor |
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IAGP |
DNA:SNP, missense mutation:promoter, cds:-62G>A, 914C>T (p.P305L) (human) |
RGD |
PMID:14691196 |
RGD:1641832 |
NCBI chr10:118,589,997...118,595,648
Ensembl chr10:118,589,997...118,595,648
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G |
PROC |
protein C, inactivator of coagulation factors Va and VIIIa |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22352330 |
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NCBI chr 2:127,418,427...127,429,242
Ensembl chr 2:127,418,427...127,429,242
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G |
PTEN |
phosphatase and tensin homolog |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15646324 |
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NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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G |
PTGDS |
prostaglandin D2 synthase |
|
IEP |
protein:increased expression:serum, urine |
RGD |
PMID:11882588 |
RGD:1642584 |
NCBI chr 9:136,977,504...136,981,742
Ensembl chr 9:136,975,092...136,981,742
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G |
PTGIS |
prostaglandin I2 synthase |
susceptibility |
IAGP ISO |
mRNA:increased expression:aortic endothelial cell (rat) DNA:repeat:promoter:g.-6(CCGCCAGCC)3-4 (human) DNA:SNP:exon 8:g.1117C>A (rs6095558) (human) |
RGD |
PMID:12372404 PMID:18056786 PMID:10577996 PMID:17070428 |
RGD:1298040, RGD:401960082, RGD:401959586, RGD:401959383 |
NCBI chr20:49,503,874...49,568,137
Ensembl chr20:49,503,874...49,568,137
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G |
PTGR1 |
prostaglandin reductase 1 |
|
ISO |
mRNA:decreased expression:rostral ventrolateral medulla, paraventricular nucleus of hypothalamus, nucleus of solitary tract (rat) |
RGD |
PMID:23172924 |
RGD:401959217 |
NCBI chr 9:111,549,722...111,599,647
Ensembl chr 9:111,549,722...111,599,893
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G |
PTGS2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO EXP |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD RGD |
PMID:14757778 PMID:15834289 PMID:20667508 PMID:22349312 PMID:16467505 PMID:15775781 More...
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RGD:1580671, RGD:1581285 |
NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
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G |
PTH |
parathyroid hormone |
|
IEP EXP |
protein:increased expression:serum (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:1930854 PMID:23460043 |
RGD:7242420 |
NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
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G |
PTK2 |
protein tyrosine kinase 2 |
|
ISO |
protein:increased expression:aorta |
RGD |
PMID:12732587 PMID:21068519 |
RGD:729831, RGD:10041072 |
NCBI chr 8:140,657,900...141,002,079
Ensembl chr 8:140,657,900...141,002,216
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G |
PTK2B |
protein tyrosine kinase 2 beta |
susceptibility |
IAGP ISO |
DNA:polymorphism:promoter:-22A>G protein:increased expression:aorta |
RGD |
PMID:18075463 PMID:21068519 |
RGD:2292575, RGD:10041072 |
NCBI chr 8:27,310,506...27,459,391
Ensembl chr 8:27,311,482...27,459,391
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G |
PTPN1 |
protein tyrosine phosphatase non-receptor type 1 |
treatment |
EXP ISO |
CTD Direct Evidence: therapeutic associated with obesity |
CTD RGD |
PMID:28899902 PMID:29859467 PMID:29562733 |
RGD:401976391, RGD:401976390 |
NCBI chr20:50,510,383...50,585,241
Ensembl chr20:50,510,321...50,585,241
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G |
PTPRC |
protein tyrosine phosphatase receptor type C |
ameliorates |
ISO |
associated with Cardiac Fibrosis |
RGD |
PMID:25715999 |
RGD:401794570 |
NCBI chr 1:198,638,713...198,757,476
Ensembl chr 1:198,638,457...198,757,476
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G |
PTPRD |
protein tyrosine phosphatase receptor type D |
treatment |
IAGP |
DNA:SNP:enhancer: (rs10739150) (human) |
RGD |
PMID:26425837 |
RGD:11085524 |
NCBI chr 9:8,314,246...10,613,002
Ensembl chr 9:8,314,246...10,613,002
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G |
PTPRJ |
protein tyrosine phosphatase receptor type J |
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ISO |
|
RGD |
PMID:15710778 |
RGD:1357414 |
NCBI chr11:47,980,559...48,170,839
Ensembl chr11:47,980,425...48,170,839
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G |
PTPRU |
protein tyrosine phosphatase receptor type U |
susceptibility |
ISO |
|
RGD |
PMID:11086029 |
RGD:1642652 |
NCBI chr 1:29,236,522...29,326,800
Ensembl chr 1:29,236,516...29,326,813
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G |
QDPR |
quinoid dihydropteridine reductase |
|
ISO |
protein:decreased expression:aorta smooth muscle (rat) |
RGD |
PMID:19743417 |
RGD:5128580 |
NCBI chr 4:17,486,395...17,512,090
Ensembl chr 4:17,460,261...17,512,206
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G |
RAD51 |
RAD51 recombinase |
treatment |
ISO |
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RGD |
PMID:24239235 |
RGD:8693672 |
NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340
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G |
RAG1 |
recombination activating 1 |
|
ISO |
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RGD |
PMID:23364523 |
RGD:7207429 |
NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156
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G |
RALBP1 |
ralA binding protein 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23821548 |
|
NCBI chr18:9,475,009...9,538,114
Ensembl chr18:9,475,009...9,538,114
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G |
RAMP2 |
receptor activity modifying protein 2 |
susceptibility |
IAGP ISO IEP |
DNA:SNP:intron mRNA, protein:increased expression:heart myocardium, aorta associated with Pregnancy Complications |
RGD |
PMID:15797661 PMID:16450076 PMID:11600589 |
RGD:1642679, RGD:1625300, RGD:1642682 |
NCBI chr17:42,761,227...42,763,041
Ensembl chr17:42,758,447...42,763,041
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G |
RASGRP3 |
RAS guanyl releasing protein 3 |
|
IAGP |
|
RGD |
PMID:19421330 |
RGD:2314812 |
NCBI chr 2:33,436,348...33,564,731
Ensembl chr 2:33,436,324...33,564,750
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G |
RBFOX2 |
RNA binding fox-1 homolog 2 |
|
ISO |
mRNA, protein:splice variant, increased expression:mesenteric artery (rat) |
RGD |
PMID:28993448 |
RGD:329848961 |
NCBI chr22:35,738,736...36,028,824
Ensembl chr22:35,738,736...36,028,824
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G |
RBP4 |
retinol binding protein 4 |
sexual_dimorphism ameliorates |
IEP ISO |
protein:increased expression:blood serum (human) |
RGD |
PMID:20798476 PMID:21365528 PMID:25911613 |
RGD:329845596, RGD:329853304, RGD:329845871 |
NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744
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G |
REG3G |
regenerating family member 3 gamma |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27798352 |
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NCBI chr 2:79,025,702...79,028,501
Ensembl chr 2:79,025,686...79,028,505
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G |
RELA |
RELA proto-oncogene, NF-kB subunit |
|
ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19018797 PMID:27659729 PMID:32147540 PMID:16840655 |
RGD:2298761 |
NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090
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G |
REN |
renin |
treatment |
IAGP ISO EXP |
CTD Direct Evidence: marker/mechanism protein:decreased activity:plasma (mouse) |
CTD RGD |
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:19934029 PMID:20429690 PMID:20811386 PMID:21393355 PMID:16138564 PMID:30127255 PMID:22493079 PMID:22681982 PMID:16467505 More...
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RGD:1580697, RGD:401793709, RGD:6892655, RGD:6784501, RGD:1580671 |
NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324
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G |
RESP18 |
regulated endocrine specific protein 18 |
|
ISO |
|
RGD |
PMID:29570433 |
RGD:14348960 |
NCBI chr 2:219,327,407...219,336,656
Ensembl chr 2:219,327,407...219,333,177
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G |
RETN |
resistin |
|
IAGP |
DNA:SNP:3' utr:*62A>G (human) |
RGD |
PMID:12629116 |
RGD:1624968 |
NCBI chr19:7,669,049...7,670,455
Ensembl chr19:7,669,049...7,670,455
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G |
RFFL |
ring finger and FYVE like domain containing E3 ubiquitin protein ligase |
|
ISO |
mRNA,protein:increased expression:heart |
RGD |
PMID:21357277 |
RGD:13442502 |
NCBI chr17:35,005,990...35,089,226
Ensembl chr17:35,005,990...35,089,319
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G |
RGS2 |
regulator of G protein signaling 2 |
|
EXP ISO |
CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:1798635 PMID:14608379 PMID:17986358 |
RGD:13524579, RGD:2289116 |
NCBI chr 1:192,809,039...192,812,275
Ensembl chr 1:192,809,039...192,812,275
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G |
RGS4 |
regulator of G protein signaling 4 |
treatment |
ISO |
|
RGD |
PMID:21825230 |
RGD:7207400 |
NCBI chr 1:163,068,871...163,076,802
Ensembl chr 1:163,068,775...163,076,802
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G |
RGS5 |
regulator of G protein signaling 5 |
treatment |
EXP ISO |
CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:1798635 PMID:21825230 |
RGD:7207400 |
NCBI chr 1:163,142,299...163,321,735
Ensembl chr 1:163,111,121...163,321,791
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G |
RHOA |
ras homolog family member A |
|
ISO |
protein:altered localization:mesenteric artery |
RGD |
PMID:17620967 |
RGD:1642801 |
NCBI chr 3:49,359,145...49,411,976
Ensembl chr 3:49,359,139...49,412,998
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G |
RNLS |
renalase, FAD dependent amine oxidase |
|
IAGP 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 chr10:88,171,523...88,583,318
Ensembl chr10:88,273,864...88,584,530
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G |
RNPEP |
arginyl aminopeptidase |
|
ISO |
protein:increased expression:adrenal gland, neurohypophysis |
RGD |
PMID:9660082 PMID:3001599 |
RGD:2325942, RGD:2325950 |
NCBI chr 1:201,982,648...202,006,143
Ensembl chr 1:201,982,372...202,006,147
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G |
RPS6KB1 |
ribosomal protein S6 kinase B1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19289642 |
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NCBI chr17:59,893,121...59,950,574
Ensembl chr17:59,893,046...59,950,574
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G |
S100B |
S100 calcium binding protein B |
|
IEP |
protein:increased expression:serum |
RGD |
PMID:21130083 |
RGD:5508770 |
NCBI chr21:46,598,604...46,605,082
Ensembl chr21:46,598,604...46,605,208
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G |
S1PR1 |
sphingosine-1-phosphate receptor 1 |
disease_progression |
ISO |
associated with SHRSP;mRNA,protein:increased expression, decreased expression:kidney (rat) |
RGD |
PMID:17938382 |
RGD:1643008 |
NCBI chr 1:101,236,899...101,242,313
Ensembl chr 1:101,236,865...101,243,713
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G |
SCNN1A |
sodium channel epithelial 1 subunit alpha |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11752024 PMID:23348737 |
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NCBI chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730
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G |
SCNN1B |
sodium channel epithelial 1 subunit beta |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15174897 PMID:15198480 PMID:19344079 |
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NCBI chr16:23,278,231...23,381,294
Ensembl chr16:23,278,231...23,381,294
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G |
SCNN1G |
sodium channel epithelial 1 subunit gamma |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15198480 |
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NCBI chr16:23,182,745...23,216,883
Ensembl chr16:23,182,745...23,216,883
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G |
SELP |
selectin P |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15513305 |
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NCBI chr 1:169,588,849...169,630,124
Ensembl chr 1:169,588,849...169,630,193
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G |
SERPINA1 |
serpin family A member 1 |
|
IEP |
protein:increased expression:urine |
RGD |
PMID:10353322 |
RGD:1643147 |
NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693
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G |
SERPINE1 |
serpin family E member 1 |
treatment |
IEP ISO EXP |
protein:increased expression:plasma (human) mRNA:increased expression:kidney (SHRSP/A3N rat) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21051829 PMID:22352330 PMID:8355419 PMID:11907153 PMID:16645728 |
RGD:8547753, RGD:28912746, RGD:11081003 |
NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
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G |
SERPINE2 |
serpin family E member 2 |
|
ISO |
mRNA, protein:increased expression:blood vessel |
RGD |
PMID:12524238 |
RGD:729767 |
NCBI chr 2:223,975,045...224,039,286
Ensembl chr 2:223,975,045...224,039,318
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G |
SERPINF2 |
serpin family F member 2 |
|
IEP |
|
RGD |
PMID:9361364 |
RGD:1625531 |
NCBI chr17:1,742,871...1,755,265
Ensembl chr17:1,742,836...1,755,265
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|
G |
SGK1 |
serum/glucocorticoid regulated kinase 1 |
susceptibility no_association |
IAGP |
DNA:snps:exon, intron: (human) DNA:SNP:exon, intron:no association with SNPs in codon 240 in exon 8, codon 398 in exon 12 or intron 6 |
RGD |
PMID:16221215 PMID:15304560 |
RGD:1580968, RGD:1580969 |
NCBI chr 6:134,169,256...134,318,112
Ensembl chr 6:134,169,248...134,318,112
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|
G |
SH2B3 |
SH2B adaptor protein 3 |
|
ISO |
|
RGD |
PMID:25776069 |
RGD:13442483 |
NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623
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|
G |
SIRT6 |
sirtuin 6 |
exacerbates |
ISO |
|
RGD |
PMID:30894089 |
RGD:155260334 |
NCBI chr19:4,174,109...4,182,563
Ensembl chr19:4,174,109...4,182,566
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|
G |
SLC12A2 |
solute carrier family 12 member 2 |
|
ISO EXP |
mRNA:increased expression:aorta CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17259435 PMID:15020309 PMID:21814290 |
RGD:1580582, RGD:9587757 |
NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677
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|
G |
SLC12A3 |
solute carrier family 12 member 3 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18480177 |
|
NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850
|
|
G |
SLC26A4 |
solute carrier family 26 member 4 |
|
ISO |
|
RGD |
PMID:17120771 |
RGD:7411553 |
NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809
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|
G |
SLC2A1 |
solute carrier family 2 member 1 |
|
ISO |
protein:increased expression:renal glomerulus |
RGD |
PMID:12771048 |
RGD:12879474 |
NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
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|
G |
SLC2A3 |
solute carrier family 2 member 3 |
|
ISO |
|
RGD |
PMID:7598707 |
RGD:1642812 |
NCBI chr12:7,919,230...7,936,187
Ensembl chr12:7,919,230...8,019,007
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|
G |
SLC4A4 |
solute carrier family 4 member 4 |
|
ISO |
protein:increased expression:kidney cortex |
RGD |
PMID:15340004 |
RGD:1600028 |
NCBI chr 4:71,062,660...71,572,083
Ensembl chr 4:71,062,667...71,572,087
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|
G |
SLC5A2 |
solute carrier family 5 member 2 |
|
ISO |
|
RGD |
PMID:14506074 |
RGD:1599050 |
NCBI chr16:31,483,123...31,490,769
Ensembl chr16:31,483,002...31,490,860
|
|
G |
SLC6A18 |
solute carrier family 6 member 18 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15121838 |
|
NCBI chr 5:1,225,381...1,246,189
Ensembl chr 5:1,225,381...1,246,189
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|
G |
SLC6A19 |
solute carrier family 6 member 19 |
|
ISO |
mRNA:increased expression |
RGD |
PMID:17264310 |
RGD:1600036 |
NCBI chr 5:1,201,595...1,225,111
Ensembl chr 5:1,201,595...1,225,111
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|
G |
SLC6A2 |
solute carrier family 6 member 2 |
|
IAGP EXP |
DNA:polymorphism:1287G>A CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22533655 PMID:17124432 |
RGD:1624279 |
NCBI chr16:55,655,988...55,706,192
Ensembl chr16:55,655,988...55,707,645
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|
G |
SLC6A3 |
solute carrier family 6 member 3 |
|
ISO |
protein:increased expression:caudate-putamen |
RGD |
PMID:9074541 |
RGD:1625656 |
NCBI chr 5:1,392,794...1,445,440
Ensembl chr 5:1,392,794...1,445,440
|
|
G |
SLC8A1 |
solute carrier family 8 member A1 |
|
ISO IAGP |
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 2:40,097,270...40,512,435
Ensembl chr 2:40,097,270...40,611,053
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|
G |
SLC9A3 |
solute carrier family 9 member A3 |
|
ISO |
|
RGD |
PMID:12372791 |
RGD:727447 |
NCBI chr 5:470,456...524,449
Ensembl chr 5:470,456...524,449
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|
G |
SOD1 |
superoxide dismutase 1 |
treatment |
ISO EXP IMP IEP |
associated with Hydronephrosis CTD Direct Evidence: marker/mechanism|therapeutic human gene in a rat model mRNA:decreased expression:rostral ventrolateral medulla (rat) protein,mRNA:decreased_expression:mononuclear_cells:after treatment, activity increased but mRNA expression decreased further |
CTD RGD |
PMID:9024144 PMID:25101153 PMID:32165127 PMID:19403858 PMID:31572179 PMID:16716903 PMID:16864745 PMID:16716903 PMID:17198913 More...
|
RGD:2312366, RGD:329956417, RGD:1580833, RGD:1581232, RGD:1580833, RGD:1600704 |
NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
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G |
SOD2 |
superoxide dismutase 2 |
|
IDA EXP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11834524 PMID:21593737 PMID:25101153 PMID:16716903 PMID:16716903 |
RGD:1580833, RGD:1580833 |
NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
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G |
SOD3 |
superoxide dismutase 3 |
|
ISO EXP |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD RGD |
PMID:16864745 PMID:17023265 PMID:12600899 PMID:16864745 |
RGD:1580845, RGD:1581232 |
NCBI chr 4:24,795,573...24,800,842
Ensembl chr 4:24,789,912...24,800,842
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|
G |
SQSTM1 |
sequestosome 1 |
|
ISO |
protein:decreased expression:brain |
RGD |
PMID:23499735 |
RGD:11561939 |
NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078
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|
G |
SRC |
SRC proto-oncogene, non-receptor tyrosine kinase |
|
ISO |
|
RGD |
PMID:16157790 |
RGD:1601372 |
NCBI chr20:37,344,699...37,406,050
Ensembl chr20:37,344,685...37,406,050
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|
G |
SRF |
serum response factor |
|
ISO |
|
RGD |
PMID:16822834 |
RGD:1580749 |
NCBI chr 6:43,171,269...43,181,506
Ensembl chr 6:43,171,269...43,181,506
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|
G |
SST |
somatostatin |
|
ISO |
protein:altered expression:stomach |
RGD |
PMID:17928643 |
RGD:2303191 |
NCBI chr 3:187,668,912...187,670,394
Ensembl chr 3:187,668,912...187,670,394
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|
G |
STIM1 |
stromal interaction molecule 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19897708 |
|
NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210
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|
G |
STK11 |
serine/threonine kinase 11 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19289642 |
|
NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
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G |
STK39 |
serine/threonine kinase 39 |
|
EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:22949526 |
|
NCBI chr 2:167,954,022...168,247,595
Ensembl chr 2:167,954,020...168,247,595
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|
G |
STS |
steroid sulfatase |
|
ISO |
protein:increased expression:multiple organs |
RGD |
PMID:8539776 |
RGD:1601393 |
NCBI chr X:7,147,290...7,354,641
Ensembl chr X:7,147,237...7,804,358
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|
G |
TAC3 |
tachykinin precursor 3 |
|
ISO |
protein:increased expression:supraoptic nucleus, medulla oblongata |
RGD |
PMID:2478257 |
RGD:2305983 |
NCBI chr12:57,010,000...57,016,529
Ensembl chr12:57,010,000...57,028,883
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G |
TACR1 |
tachykinin receptor 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21294877 |
|
NCBI chr 2:75,046,463...75,199,520
Ensembl chr 2:75,046,463...75,199,520
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|
G |
TACR3 |
tachykinin receptor 3 |
|
ISO |
|
RGD |
PMID:2471579 |
RGD:2305984 |
NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985
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|
G |
TBXAS1 |
thromboxane A synthase 1 |
|
ISO |
associated with hyperinsulinism |
RGD |
PMID:9370383 PMID:16192456 |
RGD:1601472, RGD:1601439 |
NCBI chr 7:139,778,242...140,020,293
Ensembl chr 7:139,777,051...140,020,325
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|
G |
TF |
transferrin |
|
IEP |
protein:decreased expression |
RGD |
PMID:14974364 |
RGD:1601524 |
NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641
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|
G |
TGFB1 |
transforming growth factor beta 1 |
|
ISO IEP EXP IEA |
protein:increased expression:vascular associated smooth muscle cell protein:increased expression:blood serum (human) mRNA:increased expression:kidney (SHRSP/A3N rat) CTD Direct Evidence: marker/mechanism protein:increased expression:renal glomerulus |
CTD RGD |
PMID:11682445 PMID:19018797 PMID:17364610 PMID:26502942 PMID:11907153 PMID:11682445 PMID:12771048 PMID:15118671 More...
|
RGD:1601552, RGD:329955577, RGD:28912746, RGD:30296650, RGD:12879474, RGD:1331525 |
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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|
G |
TGFB3 |
transforming growth factor beta 3 |
no_association |
IAGP |
DNA:polymorphism, SNPs |
RGD |
PMID:15924806 |
RGD:1625704 |
NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011
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|
G |
TGM2 |
transglutaminase 2 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17898543 |
|
NCBI chr20:38,127,385...38,168,475
Ensembl chr20:38,127,385...38,166,578
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|
G |
TH |
tyrosine hydroxylase |
susceptibility |
IAGP EXP ISO |
DNA:polymorphism:intron:g.1090T>C rs2070762 (human) CTD Direct Evidence: marker/mechanism mRNA:increased expression:brain |
CTD RGD |
PMID:27659729 PMID:32147540 PMID:32165127 PMID:16636198 PMID:16650497 |
RGD:1601631, RGD:1601630 |
NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815
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|
G |
THBD |
thrombomodulin |
treatment |
ISO IEP |
associated with Experimental Diabetes Mellitus protein:decreased expression:plasma protein:increased expression:plasma |
RGD |
PMID:14737039 PMID:16095049 PMID:12611420 PMID:17401180 |
RGD:1601646, RGD:5685017, RGD:1601652, RGD:1601636 |
NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
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|
G |
TIMP1 |
TIMP metallopeptidase inhibitor 1 |
|
ISO EXP IEP |
mRNA, protein:increased expression:kidney CTD Direct Evidence: marker/mechanism protein:decreased expression:glomerulus |
CTD RGD |
PMID:21051829 PMID:17977875 PMID:19506087 |
RGD:2290351, RGD:2312464 |
NCBI chr X:47,582,436...47,586,789
Ensembl chr X:47,582,408...47,586,789
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|
G |
TJP2 |
tight junction protein 2 |
|
ISO |
protein:decreased expression:brain |
RGD |
PMID:17234953 |
RGD:1600163 |
NCBI chr 9:69,121,264...69,255,208
Ensembl chr 9:69,121,264...69,274,615
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|
G |
TLR4 |
toll like receptor 4 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27292124 PMID:32147540 |
|
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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|
G |
TNF |
tumor necrosis factor |
ameliorates treatment |
IAGP ISO EXP |
associated with Cardiac Fibrosis CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18605955 PMID:27292124 PMID:27659729 PMID:27847271 PMID:32147540 PMID:16202847 PMID:25715999 PMID:9590569 PMID:16415373 More...
|
RGD:1580312, RGD:401794570, RGD:1357163, RGD:1580207 |
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
|
|
G |
TNFRSF11B |
TNF receptor superfamily member 11b |
severity |
IEP |
protein:increased expression:serum |
RGD |
PMID:22050177 |
RGD:7205512 |
NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885
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|
G |
TP53 |
tumor protein p53 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22228705 |
|
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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|
G |
TPM1 |
tropomyosin 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22228705 |
|
NCBI chr15:63,042,747...63,071,915
Ensembl chr15:63,042,620...63,071,915
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|
G |
TRH |
thyrotropin releasing hormone |
|
ISO EXP |
protein:decreased expression:diencephalon CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:6350720 PMID:17227965 |
RGD:1600406 |
NCBI chr 3:129,974,720...129,977,935
Ensembl chr 3:129,974,688...129,977,935
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G |
TRHR |
thyrotropin releasing hormone receptor |
|
IAGP |
|
RGD |
PMID:11566956 |
RGD:1580744 |
NCBI chr 8:109,086,585...109,121,565
Ensembl chr 8:109,086,585...109,121,565
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|
G |
TRPC3 |
transient receptor potential cation channel subfamily C member 3 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17351372 |
|
NCBI chr 4:121,874,481...121,952,060
Ensembl chr 4:121,874,481...121,952,060
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|
G |
TRPC5 |
transient receptor potential cation channel subfamily C member 5 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17351372 |
|
NCBI chr X:111,768,011...112,082,776
Ensembl chr X:111,768,011...112,082,776
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|
G |
UCN |
urocortin |
|
IEP EXP |
associated with Pregnancy Complications;protein:increased expression:plasma CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:20237592 PMID:16915033 |
RGD:1642775 |
NCBI chr 2:27,307,400...27,308,445
Ensembl chr 2:27,307,400...27,308,445
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|
G |
UCN2 |
urocortin 2 |
|
IDA |
human protein in rat model |
RGD |
PMID:19204182 |
RGD:5508437 |
NCBI chr 3:48,561,718...48,563,781
Ensembl chr 3:48,561,718...48,563,781
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|
G |
UCP1 |
uncoupling protein 1 |
|
IAGP |
DNA:polymorphism: :-3826A>G (human) |
RGD |
PMID:17635070 |
RGD:2313626 |
NCBI chr 4:140,559,431...140,568,961
Ensembl chr 4:140,559,431...140,568,961
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|
G |
UCP2 |
uncoupling protein 2 |
treatment |
IAGP EXP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16685210 PMID:15106800 PMID:20404217 |
RGD:1580794, RGD:7175297 |
NCBI chr11:73,974,672...73,983,202
Ensembl chr11:73,974,672...73,982,843
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|
G |
UCP3 |
uncoupling protein 3 |
|
ISO |
|
RGD |
PMID:10994754 |
RGD:1580795 |
NCBI chr11:74,000,277...74,009,085
Ensembl chr11:74,000,277...74,009,085
|
|
G |
UGCG |
UDP-glucose ceramide glucosyltransferase |
treatment |
ISO |
|
RGD |
PMID:23528973 |
RGD:401793732 |
NCBI chr 9:111,896,814...111,935,369
Ensembl chr 9:111,896,814...111,935,369
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|
G |
UMOD |
uromodulin |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22228705 |
|
NCBI chr16:20,333,051...20,356,301
Ensembl chr16:20,333,051...20,356,301
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|
G |
UTS2 |
urotensin 2 |
|
IEP EXP |
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16160878 PMID:15201550 |
RGD:1580808 |
NCBI chr 1:7,847,612...7,913,249
Ensembl chr 1:7,843,083...7,853,512
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|
G |
UTS2R |
urotensin 2 receptor |
|
ISO |
|
RGD |
PMID:14621188 |
RGD:1580812 |
NCBI chr17:82,371,765...82,377,458
Ensembl chr17:82,371,765...82,377,458
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|
G |
VAV3 |
vav guanine nucleotide exchange factor 3 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21115475 |
|
NCBI chr 1:107,571,161...107,965,180
Ensembl chr 1:107,571,161...107,965,180
|
|
G |
VCAM1 |
vascular cell adhesion molecule 1 |
disease_progression |
ISO EXP IEP |
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 RGD |
PMID:11834524 PMID:19018797 PMID:19080338 PMID:17938382 PMID:20569722 |
RGD:2313107, RGD:1643008, RGD:7241235 |
NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
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|
G |
VDR |
vitamin D receptor |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11335187 |
|
NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
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|
G |
VEGFA |
vascular endothelial growth factor A |
treatment |
IEP IMP |
associated with Prostatic Neoplasms |
RGD |
PMID:16164572 PMID:20630084 |
RGD:1580573, RGD:8552374 |
NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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|
G |
VHL |
von Hippel-Lindau tumor suppressor |
|
IAGP |
|
RGD |
PMID:12500216 |
RGD:1580371 |
NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667
|
|
G |
VWF |
von Willebrand factor |
treatment |
EXP ISO |
CTD Direct Evidence: marker/mechanism associated with Experimental Diabetes Mellitus |
CTD RGD |
PMID:12149661 PMID:12425201 PMID:22352330 PMID:14737039 |
RGD:1601646 |
NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770
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|
G |
WNK1 |
WNK lysine deficient protein kinase 1 |
|
IAGP EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22949526 PMID:16301342 |
RGD:1580829 |
NCBI chr12:752,579...911,452
Ensembl chr12:752,579...911,452
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|
G |
WNK4 |
WNK lysine deficient protein kinase 4 |
no_association |
ISO EXP IAGP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22949526 PMID:12642508 PMID:15110905 |
RGD:629611, RGD:1580830 |
NCBI chr17:42,780,610...42,797,066
Ensembl chr17:42,780,610...42,797,066
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|
G |
XDH |
xanthine dehydrogenase |
treatment |
ISO IAGP IMP |
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 2:31,334,321...31,414,742
Ensembl chr 2:31,334,321...31,414,742
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|
G |
XRCC1 |
X-ray repair cross complementing 1 |
susceptibility |
IAGP |
DNA:SNP,haplotypes: p.R194W, p.R399Q (rs1799782, rs25487) (human) |
RGD |
PMID:25529925 |
RGD:401827819 |
NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473
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|
G |
XRCC3 |
X-ray repair cross complementing 3 |
susceptibility |
IAGP |
DNA:SNP,haplotype:cd: p.T241M (rs861539) (human) |
RGD |
PMID:25529925 |
RGD:401827819 |
NCBI chr14:103,697,617...103,715,451
Ensembl chr14:103,697,609...103,715,504
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|
G |
YWHAZ |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta |
treatment |
ISO |
|
RGD |
PMID:22984478 |
RGD:9587480 |
NCBI chr 8:100,916,523...100,953,382
Ensembl chr 8:100,916,523...100,953,388
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G |
APOE |
apolipoprotein E |
susceptibility |
IAGP |
DNA:polymorphism:exon: |
RGD |
PMID:17706090 |
RGD:7771556 |
NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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G |
CAT |
catalase |
severity |
IAGP |
DNA:SNP:promoter:g.4760C>T(rs1001179)(human) |
RGD |
PMID:23961996 |
RGD:9068947 |
NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
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G |
CHAT |
choline O-acetyltransferase |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27064256 |
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NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942
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G |
COL11A1 |
collagen type XI alpha 1 chain |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22922875 PMID:27064256 |
|
NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872
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G |
COL18A1 |
collagen type XVIII alpha 1 chain |
|
IAGP |
ClinVar Annotator: match by term: Glaucoma, primary closed-angle |
ClinVar |
PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 PMID:23667181 PMID:25456301 PMID:25741868 PMID:26467025 PMID:28041643 PMID:28492532 PMID:29977801 PMID:30007336 PMID:31623504 PMID:34828430 More...
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NCBI chr21:45,405,165...45,513,720
Ensembl chr21:45,405,165...45,513,720
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G |
EDN1 |
endothelin 1 |
|
IEP |
protein:increased expression:plasma (human) |
RGD |
PMID:21946544 |
RGD:8661736 |
NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
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G |
EPDR1 |
ependymin related 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27064256 |
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NCBI chr 7:37,920,640...37,951,936
Ensembl chr 7:37,920,640...37,951,936
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G |
FERMT2 |
FERM domain containing kindlin 2 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27064256 |
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NCBI chr14:52,857,273...52,951,050
Ensembl chr14:52,857,268...52,952,435
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G |
GLIS3 |
GLIS family zinc finger 3 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27064256 |
|
NCBI chr 9:3,824,127...4,490,465
Ensembl chr 9:3,824,127...4,348,392
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G |
GSTM1 |
glutathione S-transferase mu 1 |
susceptibility |
IAGP |
DNA:deletion, haplotype:cds (human) |
RGD |
PMID:18334963 |
RGD:7488955 |
NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
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G |
HGF |
hepatocyte growth factor |
susceptibility |
IAGP |
DNA:SNPs,haplotype::rs5745718,rs1742817(human) |
RGD |
PMID:23585864 |
RGD:8548548 |
NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438
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G |
LOXL1 |
lysyl oxidase like 1 |
no_association |
IAGP |
DNA:SNPs: :rs1048661, rs2165241, rs3825942 (human) |
RGD |
PMID:18223248 |
RGD:7394723 |
NCBI chr15:73,926,462...73,952,136
Ensembl chr15:73,925,989...73,952,137
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G |
MMP9 |
matrix metallopeptidase 9 |
no_association |
IAGP |
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 chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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G |
MTHFR |
methylenetetrahydrofolate reductase |
susceptibility |
IAGP |
DNA:SNPs: :677C>T,1298A>C(human) |
RGD |
PMID:19936026 |
RGD:7387250 |
NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
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G |
MUC5AC |
mucin 5AC, oligomeric mucus/gel-forming |
|
IEP |
associated with Cataract;protein:decreased expression:tear |
RGD |
PMID:21139981 |
RGD:7364742 |
NCBI chr11:1,157,953...1,201,138
Ensembl chr11:1,157,953...1,201,138
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G |
NOS3 |
nitric oxide synthase 3 |
susceptibility |
IAGP |
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 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
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G |
PLEKHA7 |
pleckstrin homology domain containing A7 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22922875 PMID:27064256 |
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NCBI chr11:16,777,297...17,014,414
Ensembl chr11:16,777,297...17,014,415
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G |
PRSS56 |
serine protease 56 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21532570 |
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NCBI chr 2:232,520,388...232,525,716
Ensembl chr 2:232,520,388...232,525,716
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G |
SH3PXD2B |
SH3 and PX domains 2B |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28719234 |
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NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,525
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G |
SLC19A1 |
solute carrier family 19 member 1 |
|
IAGP |
ClinVar Annotator: match by term: Glaucoma, primary closed-angle |
ClinVar |
PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 PMID:23667181 PMID:25456301 PMID:25741868 PMID:26467025 PMID:28041643 PMID:28492532 PMID:29977801 PMID:31623504 PMID:34828430 More...
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NCBI chr21:45,502,517...45,563,025
Ensembl chr21:45,493,572...45,573,365
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G |
TFAP2B |
transcription factor AP-2 beta |
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ISS |
|
MouseDO |
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NCBI chr 6:50,818,355...50,847,619
Ensembl chr 6:50,818,723...50,847,619
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G |
FOXC1 |
forkhead box C1 |
|
IAGP EXP |
ClinVar Annotator: match by term: Anterior segment dysgenesis 3 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glaucoma iridogoniodysplasia, familial |
ClinVar CTD OMIM |
PMID:9620769 PMID:9792859 PMID:11007653 PMID:11170889 PMID:12036988 PMID:16638984 PMID:19513095 PMID:19668217 PMID:19793056 PMID:20881294 PMID:24556684 PMID:25741868 PMID:28492532 PMID:30143558 PMID:31836490 PMID:32475988 PMID:32832252 PMID:34741396 PMID:34745210 PMID:35882526 More...
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NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897
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G |
LOC129995600 |
ATAC-STARR-seq lymphoblastoid silent region 16824 |
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IAGP |
ClinVar Annotator: match by term: Anterior segment dysgenesis 3 |
ClinVar |
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NCBI chr 6:1,609,723...1,610,342
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G |
LOC129995601 |
ATAC-STARR-seq lymphoblastoid active region 23864 |
|
IAGP |
ClinVar Annotator: match by term: Anterior segment dysgenesis 3 |
ClinVar |
PMID:9792859 PMID:25741868 |
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NCBI chr 6:1,610,673...1,610,772
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G |
PITX2 |
paired like homeodomain 2 |
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IAGP EXP |
ClinVar Annotator: match by term: Anterior segment dysgenesis 4 ClinVar Annotator: match by term: Anterior segment dysgenesis 4 | ClinVar Annotator: match by term: Iris hypoplasia with early onset glaucoma, autosomal dominant CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:7581385 PMID:8942889 PMID:9437321 PMID:9618168 PMID:10502778 PMID:25741868 PMID:28492532 PMID:32499604 More...
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NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
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G |
MAP3K7 |
mitogen-activated protein kinase kinase kinase 7 |
|
IEP |
protein:increased expression:cortex of kidney (human) |
RGD |
PMID:34584221 |
RGD:155791449 |
NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086
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G |
ATL2 |
atlastin GTPase 2 |
|
IAGP |
ClinVar Annotator: match by term: Congenital glaucoma |
ClinVar |
PMID:9097971 PMID:9497261 PMID:19234632 PMID:28492532 PMID:31251480 |
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NCBI chr 2:38,293,954...38,378,584
Ensembl chr 2:38,293,954...38,377,285
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G |
CPAMD8 |
C3 and PZP like alpha-2-macroglobulin domain containing 8 |
|
IAGP |
ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A |
ClinVar |
PMID:25741868 |
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NCBI chr19:16,892,951...17,026,810
Ensembl chr19:16,892,951...17,026,815
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G |
CYP1B1 |
cytochrome P450 family 1 subfamily B member 1 |
susceptibility |
ISO IAGP ISS EXP |
ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A ClinVar Annotator: match by term: Congenital glaucoma ClinVar Annotator: match by term: Congenital glaucoma | ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A | ClinVar Annotator: match by term: Glaucoma, primary open angle, juvenile-onset ClinVar Annotator: match by term: Congenital glaucoma | ClinVar Annotator: match by term: Glaucoma, primary open angle, juvenile-onset OMIM:231300 CTD Direct Evidence: marker/mechanism 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) |
ClinVar MouseDO CTD OMIM RGD |
PMID:2782041 PMID:9097971 PMID:9463332 PMID:9497261 PMID:9536098 PMID:10227395 PMID:10426814 PMID:10655546 PMID:10739169 PMID:10910054 PMID:11184479 PMID:11403040 PMID:11527932 PMID:11558822 PMID:11774072 PMID:11854439 PMID:11980847 PMID:12036985 PMID:12372064 PMID:12525557 PMID:12598442 PMID:14507861 PMID:14635112 PMID:15037581 PMID:15255109 PMID:15342693 PMID:15621878 PMID:16199547 PMID:16384942 PMID:16688110 PMID:16735991 PMID:16735994 PMID:16862072 PMID:17164573 PMID:17224759 PMID:17363580 PMID:17563717 PMID:17576681 PMID:17591938 PMID:17718864 PMID:17893647 PMID:18055790 PMID:18070520 PMID:18227148 PMID:18414103 PMID:18470941 PMID:18537981 PMID:18622259 PMID:18852424 PMID:19195637 PMID:19204079 PMID:19234632 PMID:19236111 PMID:19247456 PMID:19528825 PMID:19536304 PMID:19643970 PMID:19744731 PMID:19793111 PMID:19807744 PMID:20057908 PMID:20151268 PMID:20198978 PMID:20664688 PMID:20827438 PMID:21081970 PMID:21168818 PMID:21306220 PMID:21572728 PMID:21600657 PMID:21815720 PMID:21850185 PMID:21854771 PMID:22004014 PMID:22128238 PMID:22878448 PMID:22942166 PMID:23028769 PMID:23218183 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24123366 PMID:24227805 PMID:24281366 PMID:24940937 PMID:25018621 PMID:25091052 PMID:25109919 PMID:25261878 PMID:25333069 PMID:25527694 PMID:25580891 PMID:25646030 PMID:25741868 PMID:25826643 PMID:25950505 PMID:25952714 PMID:25978063 PMID:26550445 PMID:26550974 PMID:26997785 PMID:27060699 PMID:27243976 PMID:27268095 PMID:27270415 PMID:27272408 PMID:27408750 PMID:27508083 PMID:27535533 PMID:27777502 PMID:27820421 PMID:28192799 PMID:28384041 PMID:28425089 PMID:28448622 PMID:28492532 PMID:28620713 PMID:28644236 PMID:29142762 PMID:29556725 PMID:30108387 PMID:30484747 PMID:30520782 PMID:30653986 PMID:30662834 PMID:30788381 PMID:31024815 PMID:31251480 PMID:31453292 PMID:32224865 PMID:32476818 PMID:32499604 PMID:32510024 PMID:32830442 PMID:32832252 PMID:32860008 PMID:32883240 PMID:34956319 PMID:35085548 PMID:35170016 PMID:36076309 PMID:12624268 PMID:16490498 PMID:19247456 PMID:12567107 PMID:19597567 PMID:19593207 PMID:20664688 PMID:10227395 PMID:23922489 More...
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RGD:734869, RGD:7800719, RGD:7800711, RGD:7800707, RGD:7800689, RGD:7800688, RGD:7800680, RGD:7800670, RGD:7800657 |
NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902
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G |
FOXC1 |
forkhead box C1 |
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ISS |
OMIM:231300 |
MouseDO |
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NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897
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G |
GALM |
galactose mutarotase |
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IAGP |
ClinVar Annotator: match by term: Congenital glaucoma |
ClinVar |
PMID:9097971 PMID:9497261 PMID:19234632 PMID:28492532 PMID:31251480 |
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NCBI chr 2:38,666,114...38,734,765
Ensembl chr 2:38,666,081...38,741,237
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G |
HNRNPLL |
heterogeneous nuclear ribonucleoprotein L like |
|
IAGP |
ClinVar Annotator: match by term: Congenital glaucoma |
ClinVar |
PMID:9097971 PMID:9497261 PMID:19234632 PMID:28492532 PMID:31251480 |
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NCBI chr 2:38,561,969...38,602,928
Ensembl chr 2:38,561,969...38,603,586
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G |
LOC110599580 |
CYP1B1 promoter |
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IAGP |
ClinVar Annotator: match by term: Congenital glaucoma |
ClinVar |
PMID:28492532 |
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NCBI chr 2:38,076,132...38,077,840
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G |
LOC128772254 |
melanoma risk locus-associated MPRA allelic enhancer 2:38298139 |
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IAGP |
ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A ClinVar Annotator: match by term: Congenital glaucoma |
ClinVar |
PMID:2782041 PMID:9463332 PMID:9497261 PMID:10426814 PMID:10655546 PMID:11527932 PMID:11558822 PMID:11854439 PMID:12036985 PMID:14635112 PMID:15342693 PMID:16735994 PMID:16862072 PMID:17591938 PMID:18852424 PMID:19234632 PMID:20151268 PMID:20198978 PMID:22128238 PMID:23922489 PMID:24940937 PMID:25261878 PMID:25741868 PMID:25978063 PMID:27060699 PMID:27243976 PMID:27508083 PMID:27820421 PMID:28192799 PMID:28492532 PMID:32499604 PMID:32860008 PMID:35085548 More...
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NCBI chr 2:38,070,924...38,071,068
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G |
LTBP2 |
latent transforming growth factor beta binding protein 2 |
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IAGP |
ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A |
ClinVar |
PMID:19656777 |
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NCBI chr14:74,498,183...74,612,237
Ensembl chr14:74,498,183...74,612,378
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G |
MYOC |
myocilin |
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IAGP |
ClinVar Annotator: match by term: Glaucoma 3, primary congenital, a, digenic |
ClinVar |
PMID:12447164 PMID:15025728 PMID:15723004 PMID:15733270 PMID:16288197 PMID:16466712 PMID:17563717 PMID:22194650 PMID:22736945 PMID:25741868 PMID:28492532 PMID:35196929 More...
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NCBI chr 1:171,635,417...171,652,688
Ensembl chr 1:171,635,417...171,652,688
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G |
PXDN |
peroxidasin |
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IAGP |
ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A |
ClinVar |
PMID:25741868 |
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NCBI chr 2:1,631,887...1,744,901
Ensembl chr 2:1,631,887...1,744,852
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G |
TYR |
tyrosinase |
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ISS |
OMIM:231300 |
MouseDO |
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NCBI chr11:89,177,875...89,295,759
Ensembl chr11:89,177,875...89,295,759
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G |
KLF9-DT |
KLF9 divergent transcript |
|
IAGP |
ClinVar Annotator: match by term: Cataract 50 with or without glaucoma |
ClinVar |
PMID:25741868 |
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NCBI chr 9:70,414,190...70,550,493
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G |
TRPM3 |
transient receptor potential cation channel subfamily M member 3 |
|
IAGP |
ClinVar Annotator: match by term: Cataract 50 with or without glaucoma |
ClinVar OMIM |
PMID:25090642 PMID:25741868 |
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NCBI chr 9:70,529,060...71,446,971
Ensembl chr 9:70,529,060...71,446,977
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G |
AC011092.2 |
novel transcript |
|
IAGP |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2 ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B2 ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma |
ClinVar |
PMID:9536098 PMID:12687498 PMID:17576681 PMID:22730194 PMID:25741868 PMID:26467025 PMID:28440294 PMID:28492532 PMID:29590070 PMID:31673878 PMID:32376792 PMID:32906206 PMID:37091313 More...
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NCBI chr11:9,839,142...9,929,263
Ensembl chr11:9,839,143...9,929,263
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G |
LOC105369149 |
uncharacterized LOC105369149 |
|
IAGP |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2 ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B2 ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2 |
ClinVar |
PMID:25741868 PMID:26392352 PMID:26467025 PMID:27582484 PMID:28492532 PMID:32376792 PMID:36790232 PMID:37091313 More...
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NCBI chr11:9,780,547...9,791,244
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G |
LOC130005303 |
ATAC-STARR-seq lymphoblastoid silent region 3141 |
|
IAGP |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2 |
ClinVar |
PMID:28492532 |
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NCBI chr11:10,293,907...10,294,186
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G |
SBF2 |
SET binding factor 2 |
|
IAGP ISS EXP |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2 ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B2 | 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 OMIM:604563 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM |
PMID:9521281 PMID:9536098 PMID:10932274 PMID:12554688 PMID:12687498 PMID:15304601 PMID:15477569 PMID:16199547 PMID:17576681 PMID:22730194 PMID:24290377 PMID:25025039 PMID:25741868 PMID:25873783 PMID:26392352 PMID:26467025 PMID:27582484 PMID:28440294 PMID:28492532 PMID:29590070 PMID:31673878 PMID:32376792 PMID:32906206 PMID:33726816 PMID:34169998 PMID:36790232 PMID:37091313 More...
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NCBI chr11:9,778,668...10,304,841
Ensembl chr11:9,776,776...10,304,877
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G |
SBF2-AS1 |
SBF2 antisense RNA 1 |
|
IAGP |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2 ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B2 ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2 |
ClinVar |
PMID:9521281 PMID:15477569 PMID:25741868 PMID:26392352 PMID:26467025 PMID:27582484 PMID:28492532 PMID:32376792 PMID:36790232 PMID:37091313 More...
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NCBI chr11:9,758,293...9,811,319
Ensembl chr11:9,758,268...9,811,335
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G |
KCNIP1 |
potassium voltage-gated channel interacting protein 1 |
|
IAGP |
ClinVar Annotator: match by term: Hypertension, diastolic, resistance to |
ClinVar |
PMID:15057310 PMID:16155733 PMID:25741868 |
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NCBI chr 5:170,353,487...170,736,632
Ensembl chr 5:170,353,487...170,736,632
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KCNMB1 |
potassium calcium-activated channel subfamily M regulatory beta subunit 1 |
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IAGP EXP |
ClinVar Annotator: match by term: Hypertension, diastolic, resistance to CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:15057310 PMID:16155733 PMID:25741868 |
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NCBI chr 5:170,374,671...170,389,367
Ensembl chr 5:170,374,671...170,389,634
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G6PC3 |
glucose-6-phosphatase catalytic subunit 3 |
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IAGP |
ClinVar Annotator: match by term: Dursun syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:44,070,673...44,076,344
Ensembl chr17:44,070,620...44,082,151
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LOC130060959 |
ATAC-STARR-seq lymphoblastoid active region 12250 |
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IAGP |
ClinVar Annotator: match by term: Dursun syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:44,071,022...44,071,261
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IL6 |
interleukin 6 |
treatment |
ISO |
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RGD |
PMID:27106269 |
RGD:11062145 |
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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ACSM3 |
acyl-CoA synthetase medium chain family member 3 |
no_association |
IAGP |
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RGD |
PMID:11592044 |
RGD:1579978 |
NCBI chr16:20,674,405...20,797,581
Ensembl chr16:20,610,243...20,797,581
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ADD1 |
adducin 1 |
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IAGP EXP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypertension, salt-sensitive essential, susceptibility to |
OMIM CTD ClinVar |
PMID:9149697 PMID:9607177 PMID:10024330 PMID:10523341 PMID:11882573 PMID:12623934 PMID:14553962 PMID:18591455 PMID:19057513 PMID:22992668 PMID:23863317 More...
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NCBI chr 4:2,843,844...2,930,062
Ensembl chr 4:2,843,844...2,930,076
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AGT |
angiotensinogen |
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IAGP EXP |
ClinVar Annotator: match by term: Hypertension, essential, susceptibility to ClinVar Annotator: match by term: Essential hypertension, genetic CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:1394429 PMID:7649545 PMID:7883995 PMID:8348146 PMID:8513325 PMID:8518804 PMID:9120024 PMID:9259580 PMID:9421481 PMID:9831339 PMID:9894356 PMID:12743009 PMID:13937884 PMID:15077204 PMID:16059745 PMID:17047091 PMID:20978123 PMID:24452034 PMID:25278896 PMID:25741868 PMID:28492532 PMID:35005812 More...
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NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
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AGTR1 |
angiotensin II receptor type 1 |
treatment |
IMP IAGP EXP |
ClinVar Annotator: match by term: Essential hypertension, genetic CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypertension, essential, susceptibility to |
ClinVar CTD OMIM RGD |
PMID:8021009 PMID:9084931 PMID:15042429 PMID:16116425 PMID:25741868 PMID:28492532 PMID:28973083 PMID:18604484 More...
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RGD:10047396 |
NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008
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AIF1 |
allograft inflammatory factor 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34453990 |
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NCBI chr 6:31,615,234...31,617,015
Ensembl chr 6:31,615,217...31,617,021
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ATP1B1 |
ATPase Na+/K+ transporting subunit beta 1 |
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IAGP EXP |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
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NCBI chr 1:169,106,690...169,132,719
Ensembl chr 1:169,105,697...169,310,992
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ATP2A2 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 |
susceptibility |
IAGP |
DNA:polymorphism:exon:p.A724A (c.2171G>A)(human) |
RGD |
PMID:20687374 |
RGD:13507310 |
NCBI chr12:110,280,616...110,351,093
Ensembl chr12:110,280,756...110,351,093
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ATP5PF |
ATP synthase peripheral stalk subunit F6 |
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IEP |
protein:increased expression:plasma (human) |
RGD |
PMID:14654753 |
RGD:13800915 |
NCBI chr21:25,724,500...25,735,653
Ensembl chr21:25,716,503...25,735,673
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CALY |
calcyon neuron specific vesicular protein |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30753204 |
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NCBI chr10:133,324,072...133,336,896
Ensembl chr10:133,324,072...133,336,935
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CAT |
catalase |
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IAGP |
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RGD |
PMID:15735318 |
RGD:1581147 |
NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
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CDCA3 |
cell division cycle associated 3 |
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IAGP |
ClinVar Annotator: match by term: Hypertension, essential, susceptibility to |
ClinVar |
PMID:9425898 PMID:10477144 PMID:10523525 PMID:10770297 PMID:10770309 PMID:10770310 PMID:11322952 PMID:12668921 PMID:25741868 PMID:28492532 More...
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NCBI chr12:6,844,798...6,851,286
Ensembl chr12:6,844,793...6,851,292
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CYBA |
cytochrome b-245 alpha chain |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34453990 |
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NCBI chr16:88,643,289...88,651,053
Ensembl chr16:88,643,275...88,651,083
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CYBB |
cytochrome b-245 beta chain |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34453990 |
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NCBI chr X:37,780,059...37,813,461
Ensembl chr X:37,780,018...37,813,461
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CYP3A5 |
cytochrome P450 family 3 subfamily A member 5 |
susceptibility |
IAGP EXP |
ClinVar Annotator: match by term: Hypertension, salt-sensitive essential, susceptibility to CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:11279519 PMID:11740341 PMID:12065767 PMID:12754175 PMID:15492926 |
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NCBI chr 7:99,648,194...99,679,996
Ensembl chr 7:99,648,194...99,679,996
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ECE1 |
endothelin converting enzyme 1 |
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EXP IAGP |
CTD Direct Evidence: marker/mechanism |
CTD OMIM |
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NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572
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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 chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
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FFAR2 |
free fatty acid receptor 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34453990 |
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NCBI chr19:35,448,257...35,451,767
Ensembl chr19:35,443,907...35,451,767
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FFAR3 |
free fatty acid receptor 3 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34453990 |
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NCBI chr19:35,358,151...35,360,489
Ensembl chr19:35,358,460...35,360,489
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FGFR2 |
fibroblast growth factor receptor 2 |
sexual_dimorphism |
ISO |
mRNA, protein:decreased expression:inferior vagus X ganglion, nucleus of solitary tract (rat) |
RGD |
PMID:31626954 |
RGD:155791444 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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FTO |
FTO alpha-ketoglutarate dependent dioxygenase |
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IGI |
DNA:SNP: :rs8050136 (human) |
RGD |
PMID:23691120 |
RGD:329845889 |
NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512
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GATA5 |
GATA binding protein 5 |
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ISS ISO |
OMIM:145500 | OMIM:603918 | OMIM:604329 | OMIM:607329 | OMIM:608742 | OMIM:610261 | OMIM:610262 | OMIM:610948 | OMIM:611014 |
MouseDO RGD |
PMID:26617239 |
RGD:11343485 |
NCBI chr20:62,463,497...62,475,995
Ensembl chr20:62,463,497...62,475,995
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GNB3 |
G protein subunit beta 3 |
susceptibility |
IAGP EXP IGI |
ClinVar Annotator: match by term: Hypertension, essential, susceptibility to CTD Direct Evidence: marker/mechanism DNA:SNP: :rs5443, rs1129649 (human) |
ClinVar OMIM CTD RGD |
PMID:9425898 PMID:10477144 PMID:10523525 PMID:10770297 PMID:10770309 PMID:10770310 PMID:11322952 PMID:12668921 PMID:25741868 PMID:28492532 PMID:23691120 More...
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RGD:329845889 |
NCBI chr12:6,840,925...6,847,393
Ensembl chr12:6,839,954...6,847,393
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GRK4 |
G protein-coupled receptor kinase 4 |
susceptibility |
IAGP |
DNA:SNP,haplotypes:cds: |
RGD |
PMID:15097232 |
RGD:1598505 |
NCBI chr 4:2,963,571...3,040,760
Ensembl chr 4:2,963,571...3,040,760
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HAVCR1 |
hepatitis A virus cellular receptor 1 |
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IEP |
protein:increased expression:urine: |
RGD |
PMID:22923545 |
RGD:7245500 |
NCBI chr 5:157,029,413...157,069,407
Ensembl chr 5:157,026,742...157,069,396
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HCAR3 |
hydroxycarboxylic acid receptor 3 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34453990 |
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NCBI chr12:122,714,756...122,716,811
Ensembl chr12:122,714,756...122,716,811
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HMGB1 |
high mobility group box 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34453990 |
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NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597
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HSD11B1 |
hydroxysteroid 11-beta dehydrogenase 1 |
susceptibility |
IAGP |
DNA:SNP:insertion: ins4436A (rs45487298) (human) |
RGD |
PMID:26671915 |
RGD:11353457 |
NCBI chr 1:209,686,179...209,734,929
Ensembl chr 1:209,686,178...209,734,949
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IL1B |
interleukin 1 beta |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34453990 |
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NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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LCN2 |
lipocalin 2 |
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IEP |
protein:increased expression:urine: |
RGD |
PMID:22923545 |
RGD:7245500 |
NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
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MIR126 |
microRNA 126 |
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IEP |
RNA:decreased expression:peripheral blood mononuclear cell |
RGD |
PMID:24794206 |
RGD:401851039 |
NCBI chr 9:136,670,602...136,670,686
Ensembl chr 9:136,670,602...136,670,686
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NCF1 |
neutrophil cytosolic factor 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34453990 |
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NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315
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NOS3 |
nitric oxide synthase 3 |
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IAGP ISS EXP |
DNA:snp:cds:p.E298D (human) OMIM:145500 | OMIM:603918 | OMIM:604329 | OMIM:607329 | OMIM:608742 | OMIM:610261 | OMIM:610262 | OMIM:610948 | OMIM:611014 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Essential hypertension DNA:repeats:intron:IVS13+?-?dupCA (human) |
MouseDO CTD ClinVar RGD |
PMID:25741868 PMID:11394896 PMID:9084930 |
RGD:1580280, RGD:1580277 |
NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
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NPPB |
natriuretic peptide B |
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IEP |
protein:increased expression:plasma: |
RGD |
PMID:9350073 |
RGD:7246914 |
NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945
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NPR2 |
natriuretic peptide receptor 2 |
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IAGP |
DNA:repeat:intron:IVS2+150(GT)10-11 (human) |
RGD |
PMID:10082481 |
RGD:1580772 |
NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732
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PHACTR1 |
phosphatase and actin regulator 1 |
susceptibility |
IAGP |
DNA:SNP::g.12903725A>G (rs9349379) (human) |
RGD |
PMID:34758666 |
RGD:401900745 |
NCBI chr 6:12,716,767...13,287,837
Ensembl chr 6:12,716,312...13,290,446
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PTGIS |
prostaglandin I2 synthase |
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IAGP EXP |
ClinVar Annotator: match by term: Essential hypertension ClinVar Annotator: match by term: Essential hypertension | ClinVar Annotator: match by term: Essential hypertension, genetic CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:12372404 PMID:25741868 |
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NCBI chr20:49,503,874...49,568,137
Ensembl chr20:49,503,874...49,568,137
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PTPN1 |
protein tyrosine phosphatase non-receptor type 1 |
susceptibility |
IAGP |
DNA:SNPs::g.54281T>A, 15/37C>A (human) |
RGD |
PMID:20101100 |
RGD:401959376 |
NCBI chr20:50,510,383...50,585,241
Ensembl chr20:50,510,321...50,585,241
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RARRES2 |
retinoic acid receptor responder 2 |
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IEP |
protein:increased expression:serum: |
RGD |
PMID:24047472 |
RGD:15036820 |
NCBI chr 7:150,338,329...150,341,629
Ensembl chr 7:150,338,317...150,341,662
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RBP4 |
retinol binding protein 4 |
disease_progression |
IEP |
protein:increased expression:blood plasma (human) protein:increased expression:blood serum (human) |
RGD |
PMID:31865725 PMID:19556974 |
RGD:329845583, RGD:329845861 |
NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744
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REN |
renin |
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IDA |
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RGD |
PMID:1152295 |
RGD:125097505 |
NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324
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