RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: hypertension
Accession: DOID:10763
browse the term
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
ISO
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)
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17272743
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
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
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...
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...
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
ISO
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
ISO
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
ISO
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
ISO
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
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
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
ISO
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
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12860835
NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
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ADM
adrenomedullin
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
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
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
ISO
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
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
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...
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
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
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...
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...
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
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
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
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
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
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
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:32147540
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
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
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
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:2526952
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
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
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
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22467300
NCBI chr17:4,630,919...4,641,678
Ensembl chr17:4,630,919...4,642,294
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ALOX5
arachidonate 5-lipoxygenase
ISO
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
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
ISO
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
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...73,170,629
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AOC1
amine oxidase copper containing 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:6218830
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
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23154672
NCBI chr17:42,851,199...42,858,124
Ensembl chr17:42,851,184...42,858,130
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APLN
apelin
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
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
IEA
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
ISO
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)
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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AQP2
aquaporin 2
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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AQP4
aquaporin 4
ISO
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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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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ARG1
arginase 1
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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ARG2
arginase 2
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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ARHGDIA
Rho GDP dissociation inhibitor alpha
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 chr17:81,867,719...81,871,378
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ARID1B
AT-rich interaction domain 1B
treatment
ISO
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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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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ARRB2
arrestin beta 2
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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ATF2
activating transcription factor 2
ISO
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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ATG7
autophagy related 7
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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ATOX1
antioxidant 1 copper chaperone
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:22753205
NCBI chr 5:151,742,822...151,758,631
Ensembl chr 5:151,742,316...151,772,532
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ATP1A1
ATPase Na+/K+ transporting subunit alpha 1
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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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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ATP2A3
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3
ISO
RGD
PMID:11208768
RGD:68726
NCBI chr17:3,923,873...3,964,437
Ensembl chr17:3,923,868...3,964,464
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ATP2B1
ATPase plasma membrane Ca2+ transporting 1
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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ATP2B3
ATPase plasma membrane Ca2+ transporting 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23416519
NCBI chr X:153,517,642...153,582,929
Ensembl chr X:153,517,642...153,582,939
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ATP5F1A
ATP synthase F1 subunit alpha
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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ATP6AP2
ATPase H+ transporting accessory protein 2
ISO
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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AVP
arginine vasopressin
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...
RGD:1601305 , RGD:1601243
NCBI chr20:3,082,556...3,084,724
Ensembl chr20:3,082,556...3,084,724
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AVPR1A
arginine vasopressin receptor 1A
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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AVPR2
arginine vasopressin receptor 2
severity
ISO
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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B2M
beta-2-microglobulin
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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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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BAX
BCL2 associated X, apoptosis regulator
treatment
ISO
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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BCHE
butyrylcholinesterase
IEP
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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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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BDKRB1
bradykinin receptor B1
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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BDKRB2
bradykinin receptor B2
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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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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BMAL2
basic helix-loop-helix ARNT like 2
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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BMP2
bone morphogenetic protein 2
treatment
ISO
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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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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BRS3
bombesin receptor subtype 3
ISO
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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C3
complement C3
ISO
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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CACNA1C
calcium voltage-gated channel subunit alpha1 C
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22949532
NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950
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CACNA2D1
calcium voltage-gated channel auxiliary subunit alpha2delta 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22949532
NCBI chr 7:81,946,444...82,443,956
Ensembl chr 7:81,946,444...82,443,956
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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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CALCA
calcitonin related polypeptide alpha
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:1849535 PMID:9887042
NCBI chr11:14,966,668...14,972,351
Ensembl chr11:14,966,622...14,972,354
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CAPN6
calpain 6
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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CAPN9
calpain 9
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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CASP3
caspase 3
treatment
ISO
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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CASP8
caspase 8
ISO
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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CASP9
caspase 9
ISO
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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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 5:96,247,756...96,779,595 Ensembl chr 5:96,247,756...96,779,595
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CAT
catalase
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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CAV1
caveolin 1
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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CBS
cystathionine beta-synthase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18224302
NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943
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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...
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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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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CCL5
C-C motif chemokine ligand 5
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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CCN2
cellular communication network factor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16685210
NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
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CCNE1
cyclin E1
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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CCR5
C-C motif chemokine receptor 5
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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CD14
CD14 molecule
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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CD36
CD36 molecule (CD36 blood group)
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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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...44,620,363
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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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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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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
NCBI chr 1:15,456,732...15,472,091
Ensembl chr 1:15,456,728...15,472,091
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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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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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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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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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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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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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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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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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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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CMA1
chymase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:14620933
NCBI chr14:24,505,353...24,508,265
Ensembl chr14:24,505,353...24,508,265
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CNR1
cannabinoid receptor 1
ISO
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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COL1A1
collagen type I alpha 1 chain
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:11682445
NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
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COL3A1
collagen type III alpha 1 chain
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:11682445
NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
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COL4A5
collagen type IV alpha 5 chain
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...
NCBI chr X:108,439,838...108,697,545
Ensembl chr X:108,439,838...108,697,545
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COL6A3
collagen type VI alpha 3 chain
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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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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CORIN
corin, serine peptidase
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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COX5B
cytochrome c oxidase subunit 5B
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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CPS1
carbamoyl-phosphate synthase 1
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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CREB1
cAMP responsive element binding protein 1
treatment
ISO
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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CRHR1
corticotropin releasing hormone receptor 1
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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CRHR2
corticotropin releasing hormone receptor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:10742107
NCBI chr 7:30,651,942...30,700,103
Ensembl chr 7:30,651,942...30,700,129
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CRP
C-reactive protein
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...
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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CTF1
cardiotrophin 1
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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CTSC
cathepsin C
ISO
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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CXCL2
C-X-C motif chemokine ligand 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22352330
NCBI chr 4:74,097,040...74,099,195
Ensembl chr 4:74,097,040...74,099,196
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CXCR2
C-X-C motif chemokine receptor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27678262
NCBI chr 2:218,125,294...218,137,251
Ensembl chr 2:218,125,289...218,137,251
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CYBA
cytochrome b-245 alpha chain
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...
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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CYBB
cytochrome b-245 beta chain
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...
RGD:1599685
NCBI chr X:37,780,059...37,813,461
Ensembl chr X:37,780,018...37,813,461
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CYP11A1
cytochrome P450 family 11 subfamily A member 1
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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CYP11B1
cytochrome P450 family 11 subfamily B member 1
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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CYP11B2
cytochrome P450 family 11 subfamily B member 2
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...
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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CYP19A1
cytochrome P450 family 19 subfamily A member 1
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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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...
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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CYP1B1
cytochrome P450 family 1 subfamily B member 1
treatment
ISO
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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CYP2C18
cytochrome P450 family 2 subfamily C member 18
ISO
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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CYP2C9
cytochrome P450 family 2 subfamily C member 9
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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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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CYP2R1
cytochrome P450 family 2 subfamily R member 1
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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CYP4A11
cytochrome P450 family 4 subfamily A member 11
IAGP
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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CYP4A22
cytochrome P450 family 4 subfamily A member 22
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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CYP4F12
cytochrome P450 family 4 subfamily F member 12
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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CYP4F2
cytochrome P450 family 4 subfamily F member 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:30932691
NCBI chr19:15,878,023...15,898,074
Ensembl chr19:15,878,023...15,898,077
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DARS2
aspartyl-tRNA synthetase 2, mitochondrial
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...
NCBI chr 1:173,824,673...173,858,546
Ensembl chr 1:173,824,653...173,858,808
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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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DDAH1
dimethylarginine dimethylaminohydrolase 1
susceptibility
IAGP
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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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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DRD1
dopamine receptor D1
ISO IAGP
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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DRD2
dopamine receptor D2
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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DRD3
dopamine receptor D3
ISO
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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DRD5
dopamine receptor D5
ISO
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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DUSP1
dual specificity phosphatase 1
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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DUSP5
dual specificity phosphatase 5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25397684
NCBI chr10:110,497,907...110,511,533
Ensembl chr10:110,497,907...110,511,533
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DYNLL1
dynein light chain LC8-type 1
treatment
ISO
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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ECE1
endothelin converting enzyme 1
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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EDN1
endothelin 1
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...
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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EDN2
endothelin 2
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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EDN3
endothelin 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:2059916
NCBI chr20:59,300,611...59,325,992
Ensembl chr20:59,300,443...59,325,992
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EDNRA
endothelin receptor type A
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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EDNRB
endothelin receptor type B
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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EGLN1
egl-9 family hypoxia inducible factor 1
ISO
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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EIF4G2
eukaryotic translation initiation factor 4 gamma 2
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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ELN
elastin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17039479
NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
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EMILIN1
elastin microfibril interfacer 1
ISO
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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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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ENO1
enolase 1
ISO
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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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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ENTPD2
ectonucleoside triphosphate diphosphohydrolase 2
ISO
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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EP300
E1A binding protein p300
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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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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EPO
erythropoietin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:1516988 PMID:10694834
NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
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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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ERAP1
endoplasmic reticulum aminopeptidase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:13678427
NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100
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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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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
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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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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
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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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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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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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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
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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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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
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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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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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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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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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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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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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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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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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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...75,283,190
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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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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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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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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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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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GAL
galanin and GMAP prepropeptide
ISO EXP
mRNA:decreased expression:paraventricular hypothalamic nucleus, solitary tract nucleus CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10818254 PMID:15275958
RGD:1624333
NCBI chr11:68,684,544...68,691,175
Ensembl chr11:68,683,779...68,691,175
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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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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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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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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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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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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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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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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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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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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...
RGD:1626638 , RGD:7175338 , RGD:1626635
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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
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...
RGD:2307283 , RGD:329955577 , RGD:1580485
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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
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
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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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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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
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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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
G
ITM2B
integral membrane protein 2B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22228705
NCBI chr13:48,233,206...48,270,357
Ensembl chr13:48,232,612...48,270,357
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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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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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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
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
G
KCNJ1
potassium inwardly rectifying channel subfamily J member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22228705
NCBI chr11:128,838,020...128,867,296
Ensembl chr11:128,836,315...128,867,373
G
KCNJ11
potassium inwardly rectifying channel subfamily J member 11
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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KCNJ8
potassium inwardly rectifying channel subfamily J member 8
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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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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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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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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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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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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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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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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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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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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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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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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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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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...
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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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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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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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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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 chr19:42,401,497...42,427,388
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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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NCF1
neutrophil cytosolic factor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16331104 PMID:17324946 PMID:19018797 PMID:32165127
NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315
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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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NEDD4L
NEDD4 like E3 ubiquitin protein ligase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18524855 PMID:23348737
NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540
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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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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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NGF
nerve growth factor
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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NGFR
nerve growth factor receptor
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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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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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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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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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...
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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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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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...
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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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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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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NPHP3
nephrocystin 3
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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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...
RGD:7248593
NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345
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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...
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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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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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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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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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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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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NPY1R
neuropeptide Y receptor Y1
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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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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NR2F2
nuclear receptor subfamily 2 group F member 2
ISO
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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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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NUDT1
nudix hydrolase 1
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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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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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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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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ORAI1
ORAI calcium release-activated calcium modulator 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19897708
NCBI chr12:121,626,530...121,643,109
Ensembl chr12:121,626,509...121,643,218
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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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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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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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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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PDGFB
platelet derived growth factor subunit B
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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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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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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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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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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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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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:29633482 PMID:29801666 PMID:30333007 PMID:31056860 PMID:31738409 PMID:32203225 PMID:32381729 PMID:33532864 More...
NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898
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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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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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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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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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PLG
plasminogen
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:6383834
NCBI chr 6:160,702,193...160,754,097
Ensembl chr 6:160,702,194...160,754,097
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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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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...
NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
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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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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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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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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...
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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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 4:73,985,966...73,988,276
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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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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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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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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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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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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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PRKCE
protein kinase C epsilon
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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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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PRLHR
prolactin releasing hormone receptor
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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PROC
protein C, inactivator of coagulation factors Va and VIIIa
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22352330
NCBI chr 2:127,418,427...127,429,242
Ensembl chr 2:127,418,427...127,429,242
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PTEN
phosphatase and tensin homolog
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15646324
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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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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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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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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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...
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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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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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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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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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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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...198,759,342
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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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PTPRJ
protein tyrosine phosphatase receptor type J
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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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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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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RAD51
RAD51 recombinase
treatment
ISO
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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RAG1
recombination activating 1
ISO
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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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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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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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...33,586,669
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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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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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REG3G
regenerating family member 3 gamma
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27798352
NCBI chr 2:79,025,702...79,028,501
Ensembl chr 2:79,025,686...79,028,505
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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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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...
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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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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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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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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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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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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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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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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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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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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RPS6KB1
ribosomal protein S6 kinase B1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19289642
NCBI chr17:59,893,121...59,950,574
Ensembl chr17:59,893,046...59,950,574
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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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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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SCNN1A
sodium channel epithelial 1 subunit alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:11752024 PMID:23348737
NCBI chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730
G
SCNN1B
sodium channel epithelial 1 subunit beta
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15174897 PMID:15198480 PMID:19344079
NCBI chr16:23,278,231...23,381,294
Ensembl chr16:23,278,231...23,381,294
G
SCNN1G
sodium channel epithelial 1 subunit gamma
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15198480
NCBI chr16:23,182,745...23,216,883
Ensembl chr16:23,182,745...23,216,883
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SELP
selectin P
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15513305
NCBI chr 1:169,588,849...169,630,124
Ensembl chr 1:169,588,849...169,630,193
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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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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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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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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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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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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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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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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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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
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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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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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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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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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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
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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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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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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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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
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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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
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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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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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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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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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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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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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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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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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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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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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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 chr11:73,974,061...73,982,843
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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
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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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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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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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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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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
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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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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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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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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...10,153,676
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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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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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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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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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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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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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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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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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KCNIP1
potassium voltage-gated channel interacting protein 1
IAGP
ClinVar Annotator: match by term: Hypertension, diastolic, resistance to
ClinVar
PMID:15057310 PMID:16155733
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
IAGP EXP
ClinVar Annotator: match by term: Hypertension, diastolic, resistance to CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:15057310 PMID:16155733
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
IAGP
ClinVar Annotator: match by term: Dursun syndrome
ClinVar
PMID:25741868 PMID:28492532
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
IAGP
ClinVar Annotator: match by term: Dursun syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:44,071,022...44,071,261
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IL6
interleukin 6
treatment
ISO
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
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
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...
NCBI chr 4:2,843,844...2,930,062
Ensembl chr 4:2,843,844...2,930,076
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AGT
angiotensinogen
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...
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...
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
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34453990
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
IAGP EXP
CTD Direct Evidence: marker/mechanism
OMIM CTD
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
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
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:30753204
NCBI chr10:133,324,072...133,336,896
Ensembl chr10:133,324,072...133,336,935
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CAT
catalase
IAGP
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
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...
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
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34453990
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
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34453990
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
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
susceptibility
EXP IAGP
CTD Direct Evidence: marker/mechanism
CTD OMIM
NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572
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ELN
elastin
ISS
OMIM:145500 | OMIM:603918 | OMIM:604329 | OMIM:607329 | OMIM:608742 | OMIM:610261 | OMIM:610262 | OMIM:610948 | OMIM:611014
MouseDO
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
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34453990
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
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34453990
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
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
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
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...
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
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
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34453990
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
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34453990
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
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34453990
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
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
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
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34453990
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
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
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
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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OCLN
occludin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34453990
NCBI chr 5:69,492,547...69,558,104
Ensembl chr 5:69,492,292...69,558,104
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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
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
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
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
IDA
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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RGS5
regulator of G protein signaling 5
IAGP EXP
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr 1:163,142,299...163,321,735
Ensembl chr 1:163,111,121...163,321,791
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RNLS
renalase, FAD dependent amine oxidase
IAGP
DNA:SNPs: :rs2576178, rs2296545,rs2114406 (human)
RGD
PMID:17216203
RGD:7327177
NCBI chr10:88,171,523...88,583,318
Ensembl chr10:88,273,864...88,584,530
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SLC12A3
solute carrier family 12 member 3
severity
IAGP
DNA:missense mutation:cds:p.R904Q (human) DNA:snp:intron:g.1784C>T (human)
RGD
PMID:15480096 PMID:15824464
RGD:1580589 , RGD:1580586
NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850
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TH
tyrosine hydroxylase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34453990
NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815
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TJP1
tight junction protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34453990
NCBI chr15:29,699,367...29,969,049
Ensembl chr15:29,699,367...29,968,915
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TLR2
toll like receptor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34453990
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
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TLR4
toll like receptor 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34453990
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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TNF
tumor necrosis factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34453990
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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UMOD
uromodulin
IAGP
ClinVar Annotator: match by term: Essential hypertension
ClinVar
NCBI chr16:20,333,051...20,356,301
Ensembl chr16:20,333,051...20,356,301
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ZSCAN25
zinc finger and SCAN domain containing 25
IAGP
ClinVar Annotator: match by term: Hypertension, salt-sensitive essential, susceptibility to
ClinVar
PMID:11279519 PMID:11740341 PMID:12065767 PMID:12754175 PMID:15492926
NCBI chr 7:99,616,946...99,738,035
Ensembl chr 7:99,616,946...99,632,408
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DAP3
death associated protein 3
IAGP
ClinVar Annotator: match by term: Grange syndrome
ClinVar
PMID:25741868
NCBI chr 1:155,687,948...155,739,010
Ensembl chr 1:155,687,960...155,739,010
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YY1AP1
YY1 associated protein 1
IAGP EXP
ClinVar Annotator: match by term: Grange syndrome ClinVar Annotator: match by term: GRANGE OCCLUSIVE ARTERIAL SYNDROME CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:11241488 PMID:25741868 PMID:27939641 PMID:30556293
NCBI chr 1:155,659,442...155,688,996
Ensembl chr 1:155,659,446...155,689,334
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ADAMTS13
ADAM metallopeptidase with thrombospondin type 1 motif 13
IEP
protein:decreased activity:plasma (human)
RGD
PMID:12969811
RGD:10449045
NCBI chr 9:133,414,337...133,459,386
Ensembl chr 9:133,414,358...133,459,402
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AHSP
alpha hemoglobin stabilizing protein
IEP
mRNA:decreased expression:placenta (human)
RGD
PMID:18347943
RGD:329956422
NCBI chr16:31,527,900...31,528,803
Ensembl chr16:31,527,900...31,528,803
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CD40LG
CD40 ligand
IEP
protein:increased expression:blood platelet (human)
RGD
PMID:23241952
RGD:11522719
NCBI chr X:136,648,158...136,660,390
Ensembl chr X:136,648,158...136,660,390
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ERBB2
erb-b2 receptor tyrosine kinase 2
IEP
RGD
PMID:9158311
RGD:1580990
NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426
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FAS
Fas cell surface death receptor
susceptibility
IAGP ISO
DNA:SNP:promoter:-670A>G(rs1800682)(human) protein,mRNA:altered expression:placenta, liver:
RGD
PMID:30066360 PMID:28501275
RGD:14700669 , RGD:14700673
NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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FASLG
Fas ligand
susceptibility
IAGP ISO
DNA:SNP:intron:124A>G(rs5030772)(human) protein:altered expression:blood, placenta, liver:
RGD
PMID:30066360 PMID:28501275
RGD:14700669 , RGD:14700673
NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
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LOC126805821
CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:109779623-109780822
IAGP
ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:109,237,001...109,238,200
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LOC130064387
ATAC-STARR-seq lymphoblastoid active region 14604
IAGP
ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME | ClinVar Annotator: match by term: Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr19:38,930,388...38,930,847
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SARS1
seryl-tRNA synthetase 1
IAGP
ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:109,213,893...109,238,182
Ensembl chr 1:109,213,918...109,238,182
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SARS2
seryl-tRNA synthetase 2, mitochondrial
IAGP
ClinVar Annotator: match by term: Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME | ClinVar Annotator: match by term: Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis DNA:missense mutation:CDS:p.D390G (human)
OMIM ClinVar RGD
PMID:9536098 PMID:17576681 PMID:21255763 PMID:24034276 PMID:25741868 PMID:27279129 PMID:28492532 PMID:31607746 PMID:33751860 PMID:21255763 More...
RGD:41410777
NCBI chr19:38,915,266...38,930,763
Ensembl chr19:38,915,266...38,930,763
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LOC124625920
Sharpr-MPRA regulatory region 8059
IAGP
ClinVar Annotator: match by term: Bilginturan syndrome
ClinVar
PMID:25741868
NCBI chr12:20,369,575...20,369,869
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PDE3A
phosphodiesterase 3A
IAGP EXP
ClinVar Annotator: match by term: Bilginturan syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:4774535 PMID:25741868 PMID:25961942 PMID:28492532 PMID:29758562 PMID:31549136 PMID:32631253 More...
NCBI chr12:20,368,537...20,688,583
Ensembl chr12:20,368,537...20,688,583
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PDE3A-AS1
PDE3A antisense RNA 1
IAGP
ClinVar Annotator: match by term: Bilginturan syndrome
ClinVar
PMID:25741868
NCBI chr12:20,359,175...20,370,256
Ensembl chr12:20,361,484...20,370,262
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GSTM1
glutathione S-transferase mu 1
susceptibility
IAGP
DNA:deletion:cds: (human)
RGD
PMID:19279659
RGD:7495846
NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
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NOS3
nitric oxide synthase 3
IAGP
ClinVar Annotator: match by term: Hypertension resistant to conventional therapy
ClinVar
PMID:9737779 PMID:9894802 PMID:10475066 PMID:10510054 PMID:10514107 PMID:11026457 PMID:11354626 PMID:11394896 PMID:11745998 PMID:15007011 PMID:16059745 PMID:16813604 PMID:17165044 PMID:24033266 PMID:25741868 More...
NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
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PTPRD
protein tyrosine phosphatase receptor type D
susceptibility
IAGP
associated with coronary artery disease;DNA:SNP:intron: (rs324498) (human)
RGD
PMID:30237584
RGD:401976431
NCBI chr 9:8,314,246...10,613,002
Ensembl chr 9:8,314,246...10,613,002
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NR3C2
nuclear receptor subfamily 3 group C member 2
IAGP EXP
ClinVar Annotator: match by term: Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy ClinVar Annotator: match by term: Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:10884226 PMID:15126534 PMID:16757525 PMID:22463955 PMID:25741868 PMID:28492532 More...
NCBI chr 4:148,078,764...148,445,508
Ensembl chr 4:148,078,762...148,444,698
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AGT
angiotensinogen
treatment
ISO
RGD
PMID:22089474
RGD:8548895
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
ISO
RGD
PMID:22089474
RGD:8548895
NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008
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CFL1
cofilin 1
ISO
protein:increased phosphorylation:kidney (rat)
RGD
PMID:26450610
RGD:11520804
NCBI chr11:65,854,673...65,858,180
Ensembl chr11:65,823,022...65,862,026
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COL1A1
collagen type I alpha 1 chain
ISO
mRNA:increased expression:juxtamedullary cortex (rat)
RGD
PMID:17977875
RGD:2290351
NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
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HP
haptoglobin
treatment
ISO
RGD
PMID:24029866
RGD:11041817
NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
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MMP2
matrix metallopeptidase 2
ameliorates
ISO
RGD
PMID:37643020
RGD:401827835
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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NPPB
natriuretic peptide B
ISO
RGD
PMID:26063669
RGD:12910116
NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945
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POSTN
periostin
disease_progression
ISO
mRNA,protein:increased expression:kidney:
RGD
PMID:22403621
RGD:10041032
NCBI chr13:37,562,585...37,598,768
Ensembl chr13:37,562,583...37,598,844
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PPARA
peroxisome proliferator activated receptor alpha
ISO
RGD
PMID:20671072
RGD:5509943
NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,755
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RAG1
recombination activating 1
ameliorates
ISO
RGD
PMID:23364523 PMID:23364523
RGD:7207429 , RGD:7207429
NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156
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SHC1
SHC adaptor protein 1
ISO
protein:increased expression:kidney
RGD
PMID:27270176
RGD:12792230
NCBI chr 1:154,962,298...154,974,376
Ensembl chr 1:154,962,298...154,974,395
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SIRT6
sirtuin 6
IEP
protein:decreased expression:kidney
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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ACE
angiotensin I converting enzyme
treatment severity
ISO IEP
protein:increased expression:nephron tubule, kidney interstitium (human)
RGD
PMID:10580398 PMID:21346373
RGD:12879397 , RGD:40818408
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
severity
IEP
mRNA, protein:decreased expression, increased expression:nephron tubule, kidney interstitium (human)
RGD
PMID:21346373
RGD:40818408
NCBI chr X:15,518,197...15,607,211
Ensembl chr X:15,494,566...15,607,236
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MIR214
microRNA 214
IEP
RNA:increased expression:kidney
RGD
PMID:30049682
RGD:38500245
NCBI chr 1:172,138,798...172,138,907
Ensembl chr 1:172,138,798...172,138,907
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CRP
C-reactive protein
IEP
protein:increased expression:blood:
RGD
PMID:21091359
RGD:9491786
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
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SOX17
SRY-box transcription factor 17
treatment
ISO
RGD
PMID:36200131
RGD:329853320
NCBI chr 8:54,457,935...54,460,892
Ensembl chr 8:54,457,935...54,460,892
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MT-TI
mitochondrially encoded tRNA-Ile (AUU/C)
IAGP
ClinVar Annotator: match by term: Hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial
ClinVar
PMID:15498972 PMID:34607911
NCBI chr MT:4,263...4,331
Ensembl chr MT:4,263...4,331
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APOB
apolipoprotein B
IAGP
ClinVar Annotator: match by term: Isolated systolic hypertension
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
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BSCL2
BSCL2 lipid droplet biogenesis associated, seipin
IAGP
ClinVar Annotator: match by term: Isolated systolic hypertension
ClinVar
PMID:25741868 PMID:28492532
NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845
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HNRNPUL2-BSCL2
HNRNPUL2-BSCL2 readthrough (NMD candidate)
IAGP
ClinVar Annotator: match by term: Isolated systolic hypertension
ClinVar
PMID:25741868 PMID:28492532
NCBI chr11:62,690,262...62,727,384
Ensembl chr11:62,690,275...62,727,384
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ADM
adrenomedullin
IEP
protein:increased expression:plasma
RGD
PMID:15284680
RGD:1625303
NCBI chr11:10,305,073...10,307,397
Ensembl chr11:10,305,073...10,307,397
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AGT
angiotensinogen
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:2493837 PMID:27428043
NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
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CYP17A1
cytochrome P450 family 17 subfamily A member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:3142437
NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472
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REN
renin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:2493837
NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324
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ADIPOQ
adiponectin, C1Q and collagen domain containing
IEP
protein:decreased expression:plasma
RGD
PMID:19222669
RGD:5686820
NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
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GPX3
glutathione peroxidase 3
IEP
protein:increased expression:plasma
RGD
PMID:8476834
RGD:401827852
NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988
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CPS1
carbamoyl-phosphate synthase 1
susceptibility
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, neonatal, susceptibility to
ClinVar OMIM
PMID:8486760 PMID:9536098 PMID:9686343 PMID:9711878 PMID:11388595 PMID:11407344 PMID:11536261 PMID:12655559 PMID:12955727 PMID:14718356 PMID:15050969 PMID:15164414 PMID:15465784 PMID:15617192 PMID:15876373 PMID:16199547 PMID:16708072 PMID:16737834 PMID:17310273 PMID:17576681 PMID:19167850 PMID:19684305 PMID:19793055 PMID:20154341 PMID:20578160 PMID:20800523 PMID:21068339 PMID:21120950 PMID:21767969 PMID:22173106 PMID:22575620 PMID:23649895 PMID:24813853 PMID:24880889 PMID:25741868 PMID:26059772 PMID:26440671 PMID:27150549 PMID:27290639 PMID:27436290 PMID:28444906 PMID:28492532 PMID:28526534 PMID:28658158 PMID:30285816 PMID:31392117 PMID:31435610 PMID:31507628 PMID:31749211 PMID:32154057 PMID:32537019 PMID:32718099 PMID:32934962 PMID:33190319 PMID:33240318 PMID:33309754 PMID:33489762 PMID:33851512 PMID:33924653 PMID:34014557 PMID:34298581 PMID:34440436 PMID:34970092 PMID:36340787 More...
NCBI chr 2:210,477,685...210,679,107
Ensembl chr 2:210,477,682...210,679,107
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ACTA2
actin alpha 2, smooth muscle
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:30818366
NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339
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ADRB1
adrenoceptor beta 1
disease_progression
IAGP
associated with hypertension;DNA:missense mutations, haplotype:cds:p.S49G(rs1801252),p.R389G (rs1801253)(human):
RGD
PMID:19745105
RGD:7241815
NCBI chr10:114,043,866...114,046,904
Ensembl chr10:114,043,866...114,046,904
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ALOX5
arachidonate 5-lipoxygenase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:30818366
NCBI chr10:45,374,216...45,446,117
Ensembl chr10:45,374,176...45,446,119
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ALPK1
alpha kinase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27542954
NCBI chr 4:112,297,369...112,442,621
Ensembl chr 4:112,285,509...112,442,621
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COL1A1
collagen type I alpha 1 chain
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:30818366
NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
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COL3A1
collagen type III alpha 1 chain
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:30818366
NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
G
CXCL12
C-X-C motif chemokine ligand 12
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:30818366
NCBI chr10:44,370,165...44,385,097
Ensembl chr10:44,370,165...44,386,493
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CXCR4
C-X-C motif chemokine receptor 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:30818366
NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177
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FGF2
fibroblast growth factor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:30818366
NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...122,898,236
G
HIPK2
homeodomain interacting protein kinase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr 7:139,561,570...139,777,998
Ensembl chr 7:139,561,570...139,777,998
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LTB4R
leukotriene B4 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30818366
NCBI chr14:24,311,502...24,318,036
Ensembl chr14:24,311,450...24,318,036
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MTHFR
methylenetetrahydrofolate reductase
IAGP
DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)
RGD
PMID:21613384
RGD:6893469
NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
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PTGDS
prostaglandin D2 synthase
IEP
associated with Hypertension;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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S100A4
S100 calcium binding protein A4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:30818366
NCBI chr 1:153,543,621...153,545,806
Ensembl chr 1:153,543,613...153,550,136
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TGFB1
transforming growth factor beta 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:30818366
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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AC009123.1
novel transcript, antisense to ADAD2
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:84,192,558...84,197,053
Ensembl chr16:84,192,558...84,197,053
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ADAD2
adenosine deaminase domain containing 2
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:84,191,157...84,197,166
Ensembl chr16:84,191,138...84,197,168
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ATP2C2
ATPase secretory pathway Ca2+ transporting 2
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:84,368,538...84,464,187
Ensembl chr16:84,368,527...84,464,187
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C16orf74
chromosome 16 open reading frame 74
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:85,707,517...85,751,096
Ensembl chr16:85,690,084...85,751,129
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C16orf95
chromosome 16 open reading frame 95
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:87,302,814...87,317,392
Ensembl chr16:87,083,562...87,317,420
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CIBAR2
CBY1 interacting BAR domain containing 2
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:85,098,358...85,112,472
Ensembl chr16:85,098,358...85,112,472
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COTL1
coactosin like F-actin binding protein 1
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:84,565,596...84,618,078
Ensembl chr16:84,565,596...84,618,078
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COX4I1
cytochrome c oxidase subunit 4I1
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:85,799,695...85,807,068
Ensembl chr16:85,798,633...85,807,068
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CPS1
carbamoyl-phosphate synthase 1
IAGP EXP
CACD, OMIM:265380, DNA:polymorphism:T1405N CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11407344 PMID:11407344
RGD:1600716
NCBI chr 2:210,477,685...210,679,107
Ensembl chr 2:210,477,682...210,679,107
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CRISPLD2
cysteine rich secretory protein LCCL domain containing 2
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:84,819,985...84,909,508
Ensembl chr16:84,819,985...84,920,768
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DNAAF1
dynein axonemal assembly factor 1
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:84,145,308...84,177,920
Ensembl chr16:84,145,287...84,178,767
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EMC8
ER membrane protein complex subunit 8
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:85,778,624...85,799,544
Ensembl chr16:85,771,758...85,799,608
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FBXO31
F-box protein 31
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:87,326,987...87,392,121
Ensembl chr16:87,326,987...87,392,142
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FENDRR
FOXF1 adjacent non-coding developmental regulatory RNA
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
PMID:25741868
NCBI chr16:86,474,525...86,508,860
Ensembl chr16:86,474,525...86,509,099
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FOXC2
forkhead box C2
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:86,566,829...86,569,728
Ensembl chr16:86,566,829...86,569,728
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FOXF1
forkhead box F1
IAGP ISS EXP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar Annotator: match by term: ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS AND OTHER CONGENITAL ANOMALIES | ClinVar Annotator: match by term: Alveolar capillary dysplasia with misalignment of pulmonary veins | ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia OMIM:265380 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM
PMID:15520767 PMID:19500772 PMID:23505205 PMID:24033266 PMID:25741868 PMID:27071622 PMID:27439648 PMID:27855150 PMID:28469849 PMID:28492532 PMID:30380203 PMID:36474027 More...
NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422
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FOXL1
forkhead box L1
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:86,578,549...86,583,478
Ensembl chr16:86,576,368...86,583,478
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GINS2
GINS complex subunit 2
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:85,676,198...85,688,954
Ensembl chr16:85,676,198...85,690,073
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GSE1
Gse1 coiled-coil protein
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:85,169,512...85,676,200
Ensembl chr16:85,169,525...85,676,204
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HSDL1
hydroxysteroid dehydrogenase like 1
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:84,122,141...84,145,177
Ensembl chr16:84,122,141...84,145,192
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IRF8
interferon regulatory factor 8
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:85,899,162...85,922,609
Ensembl chr16:85,899,116...85,922,606
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ITGAM
integrin subunit alpha M
IAGP
DNA:missense mutation:CDS:p.E1071D (human)
RGD
PMID:32054482
RGD:329853760
NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892
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JPH3
junctophilin 3
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:87,601,835...87,698,156
Ensembl chr16:87,601,835...87,698,156
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KCNG4
potassium voltage-gated channel modifier subfamily G member 4
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:84,218,657...84,240,012
Ensembl chr16:84,218,657...84,240,012
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KIAA0513
KIAA0513
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:85,027,795...85,094,230
Ensembl chr16:85,027,782...85,094,230
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KLHL36
kelch like family member 36
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:84,648,511...84,667,686
Ensembl chr16:84,648,511...84,667,686
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LINC01082
long intergenic non-protein coding RNA 1082
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:86,196,181...86,199,720
Ensembl chr16:86,151,351...86,244,348
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MAP1LC3B
microtubule associated protein 1 light chain 3 beta
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:87,392,336...87,404,774
Ensembl chr16:87,383,953...87,404,779
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MBTPS1
membrane bound transcription factor peptidase, site 1
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:84,053,763...84,116,942
Ensembl chr16:84,053,761...84,116,942
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MEAK7
MTOR associated protein, eak-7 homolog
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:84,476,355...84,504,659
Ensembl chr16:84,476,355...84,554,033
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MLYCD
malonyl-CoA decarboxylase
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:83,899,115...83,927,031
Ensembl chr16:83,899,115...83,951,445
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MTHFSD
methenyltetrahydrofolate synthetase domain containing
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:86,530,186...86,555,235
Ensembl chr16:86,530,178...86,555,235
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NECAB2
N-terminal EF-hand calcium binding protein 2
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:83,965,177...84,002,776
Ensembl chr16:83,968,244...84,002,776
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NOS3
nitric oxide synthase 3
ISS
OMIM:265380
MouseDO
NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
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OSGIN1
oxidative stress induced growth inhibitor 1
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:83,953,240...83,966,332
Ensembl chr16:83,931,311...83,966,332
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PTEN
phosphatase and tensin homolog
ISS
OMIM:265380
MouseDO
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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SLC38A8
solute carrier family 38 member 8
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:84,009,667...84,043,372
Ensembl chr16:84,009,667...84,042,795
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STRA6
signaling receptor and transporter of retinol STRA6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17273977
NCBI chr15:74,179,466...74,212,259
Ensembl chr15:74,179,466...74,212,267
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TAF1C
TATA-box binding protein associated factor, RNA polymerase I subunit C
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:84,177,855...84,187,057
Ensembl chr16:84,177,847...84,187,070
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USP10
ubiquitin specific peptidase 10
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:84,700,000...84,779,922
Ensembl chr16:84,699,986...84,779,922
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WFDC1
WAP four-disulfide core domain 1
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:84,294,878...84,329,844
Ensembl chr16:84,294,846...84,329,844
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ZCCHC14
zinc finger CCHC-type containing 14
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:87,406,248...87,493,024
Ensembl chr16:87,406,246...87,493,024
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ZCCHC14-DT
ZCCHC14 divergent transcript
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:87,494,187...87,515,630
Ensembl chr16:87,492,555...87,516,940
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ZDHHC7
zinc finger DHHC-type palmitoyltransferase 7
IAGP
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr16:84,974,175...85,027,631
Ensembl chr16:84,974,175...85,011,535
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ACE
angiotensin I converting enzyme
onset
EXP IAGP
CTD Direct Evidence: marker/mechanism DNA:insertion/deletion:intron 16:
CTD RGD
PMID:17114810 PMID:20044877
RGD:40400703
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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ACVR2B
activin A receptor type 2B
IEP
protein:increased expression:placenta (human)
RGD
PMID:27176145
RGD:329853749
NCBI chr 3:38,453,890...38,493,142
Ensembl chr 3:38,453,890...38,493,142
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ADD1
adducin 1
IEP
mRNA:increased expression:blood
RGD
PMID:19731222
RGD:5147993
NCBI chr 4:2,843,844...2,930,062
Ensembl chr 4:2,843,844...2,930,076
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AGT
angiotensinogen
IAGP EXP IMP
DNA:polymorphism: :p.M235T (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:8513325 PMID:8513325 PMID:20530295
RGD:1300394 , RGD:13432363
NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
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AKR1C3
aldo-keto reductase family 1 member C3
treatment
IEP ISO
mRNA:decreased expression:blood:
RGD
PMID:19681734 PMID:25876805
RGD:10053633 , RGD:11541124
NCBI chr10:5,048,781...5,107,686
Ensembl chr10:5,035,354...5,107,686
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ALB
albumin
severity
IEP
RGD
PMID:21923989
RGD:11035264
NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
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ALKBH5
alkB homolog 5, RNA demethylase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34995009
NCBI chr17:18,183,828...18,209,954
Ensembl chr17:18,183,078...18,209,954
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ANXA5
annexin A5
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:19837457
NCBI chr 4:121,667,946...121,696,980
Ensembl chr 4:121,667,946...121,696,995
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APELA
apelin receptor early endogenous ligand
ISS
OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592
MouseDO
NCBI chr 4:164,877,178...164,899,007
Ensembl chr 4:164,877,178...164,898,965
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ARHGAP45
Rho GTPase activating protein 45
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26095815
NCBI chr19:1,065,959...1,086,628
Ensembl chr19:1,065,923...1,086,628
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ARID1A
AT-rich interaction domain 1A
disease_progression
IEP
associated with Fetal Growth Retardation; protein:increased expression:placenta, nucleus (human)
RGD
PMID:32529396
RGD:243065143
NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
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ASB4
ankyrin repeat and SOCS box containing 4
ISS
OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592
MouseDO
NCBI chr 7:95,470,656...95,551,317
Ensembl chr 7:95,478,444...95,540,233
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ATP2B1
ATPase plasma membrane Ca2+ transporting 1
IEP
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr12:89,588,049...89,709,366
Ensembl chr12:89,588,049...89,709,366
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ATP2B2
ATPase plasma membrane Ca2+ transporting 2
IEP
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 3:10,324,023...10,708,007
Ensembl chr 3:10,324,023...10,708,007
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ATP2B3
ATPase plasma membrane Ca2+ transporting 3
IEP
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr X:153,517,642...153,582,929
Ensembl chr X:153,517,642...153,582,939
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ATP2B4
ATPase plasma membrane Ca2+ transporting 4
IEP
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 1:203,626,832...203,744,081
Ensembl chr 1:203,626,832...203,744,081
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BNIP3P1
BCL2 interacting protein 3 pseudogene 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:35187800
NCBI chr14:28,264,410...28,265,974
Ensembl chr14:28,264,554...28,265,133
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C3
complement C3
treatment
ISO
RGD
PMID:23685261
RGD:7411624
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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CALB1
calbindin 1
IEP
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 8:90,058,608...90,082,879
Ensembl chr 8:90,058,608...90,095,475
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CCL5
C-C motif chemokine ligand 5
ISO
protein:increased secretion:serum (rat)
RGD
PMID:19617880
RGD:2317272
NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
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CCN3
cellular communication network factor 3
IEP
protein:decreased expression:placenta (human)
RGD
PMID:16675545
RGD:1580971
NCBI chr 8:119,416,446...119,424,434
Ensembl chr 8:119,416,446...119,424,434
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CD274
CD274 molecule
treatment
ISO
RGD
PMID:27277012
RGD:40886269
NCBI chr 9:5,450,542...5,470,554
Ensembl chr 9:5,450,503...5,470,566
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CD40
CD40 molecule
IEP
protein:increased expression:blood, monocyte (human)
RGD
PMID:19221099
RGD:11520792
NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
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CD40LG
CD40 ligand
treatment
ISO IEP
protein:increased expression:blood platelet (human)
RGD
PMID:26310940 PMID:23241952
RGD:11056772 , RGD:11522719
NCBI chr X:136,648,158...136,660,390
Ensembl chr X:136,648,158...136,660,390
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CD46
CD46 molecule
susceptibility no_association
IAGP
DNA:missense mutation:cds:p.A304V (human)
RGD
PMID:21445332 PMID:25710174
RGD:6483459 , RGD:11352807
NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513
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CDKN1C
cyclin dependent kinase inhibitor 1C
ISS
OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592
MouseDO
NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775
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CEBPA
CCAAT enhancer binding protein alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34398343
NCBI chr19:33,299,934...33,302,534
Ensembl chr19:33,299,934...33,302,534
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CHI3L1
chitinase 3 like 1
IEP
protein:increased secretion:umbilical cord, serum (human)
RGD
PMID:18054022
RGD:4892664
NCBI chr 1:203,178,931...203,186,704
Ensembl chr 1:203,178,931...203,186,704
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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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CMKLR1
chemerin chemokine-like receptor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34398343
NCBI chr12:108,288,046...108,339,311
Ensembl chr12:108,288,044...108,339,317
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COMT
catechol-O-methyltransferase
ISS
OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592
MouseDO
NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
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CORIN
corin, serine peptidase
EXP
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 4:47,594,001...47,838,067
Ensembl chr 4:47,593,999...47,838,106
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CP
ceruloplasmin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18679377
NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829
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CREBBP
CREB binding protein
IEP
mRNA:decreased expression:placenta (human)
RGD
PMID:33625689
RGD:153350159
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
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CST3
cystatin C
IEP
protein:increased expression:plasma (human)
RGD
PMID:18197549
RGD:2314350
NCBI chr20:23,626,706...23,637,955
Ensembl chr20:23,626,706...23,638,473
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CUBN
cubilin
IEP
associated with late term delivery; mRNA:decreased expression:placenta (human)
RGD
PMID:32682061
RGD:401901078
NCBI chr10:16,823,966...17,129,811
Ensembl chr10:16,823,966...17,129,811
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CYP11B2
cytochrome P450 family 11 subfamily B member 2
IAGP
DNA:missense mutation:cds:p.V386A (human)
RGD
PMID:15569322
RGD:1576428
NCBI chr 8:142,910,559...142,917,843
Ensembl chr 8:142,910,559...142,917,843
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CYP24A1
cytochrome P450 family 24 subfamily A member 1
IEP
associated with hypoxia; protein:increased expression:placenta (human) mRNA:increased expression:placenta (human)
RGD
PMID:22871339 PMID:36477942
RGD:401901075 , RGD:401901174
NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986
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CYP27B1
cytochrome P450 family 27 subfamily B member 1
IEP
associated with hypoxia; protein:increased expression:placenta (human) mRNA:increased expression:placenta (human)
RGD
PMID:22871339 PMID:36477942
RGD:401901075 , RGD:401901174
NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986
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CYP2J2
cytochrome P450 family 2 subfamily J member 2
IEP ISO
mRNA:increased expression:placenta, decidua
RGD
PMID:23155181 PMID:23155181
RGD:7243127 , RGD:7243127
NCBI chr 1:59,893,308...59,969,212
Ensembl chr 1:59,893,308...59,926,773
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CYP2R1
cytochrome P450 family 2 subfamily R member 1
IEP
associated with hypoxia; protein:decreased expression:placenta (human) mRNA:decreased expression:placenta (human)
RGD
PMID:22871339 PMID:36477942 PMID:32682061
RGD:401901075 , RGD:401901174 , RGD:401901078
NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,231
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DAB2IP
DAB2 interacting protein
IEP
mRNA, protein:decreased expression:placenta (human)
RGD
PMID:25604087
RGD:11553571
NCBI chr 9:121,567,074...121,785,530
Ensembl chr 9:121,567,057...121,785,530
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DDAH2
DDAH family member 2, ADMA-independent
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22285683
NCBI chr 6:31,727,040...31,730,263
Ensembl chr 6:31,727,038...31,730,617
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DNAH8
dynein axonemal heavy chain 8
IEP
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 6:38,715,311...39,030,792
Ensembl chr 6:38,715,311...39,030,792
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EBAG9
estrogen receptor binding site associated antigen 9
IEP
protein:increased expression:decidua
RGD
PMID:17845206
RGD:2289846
NCBI chr 8:109,539,702...109,565,996
Ensembl chr 8:109,539,711...109,570,072
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EBI3
Epstein-Barr virus induced 3
ameliorates
ISO
RGD
PMID:31203154
RGD:213230155
NCBI chr19:4,229,523...4,237,528
Ensembl chr19:4,229,523...4,237,528
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EDN1
endothelin 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25230003
NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
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EDN2
endothelin 2
IEP
RGD
PMID:9015697
RGD:1580919
NCBI chr 1:41,478,775...41,484,683
Ensembl chr 1:41,478,775...41,484,683
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EIF3D
eukaryotic translation initiation factor 3 subunit D
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34520790
NCBI chr22:36,510,855...36,529,166
Ensembl chr22:36,510,855...36,529,184
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ENG
endoglin
severity treatment
IEP ISO
protein:increased expression:serum (human) protein:increased expression:serum (rat) protein:increased expression:plasma (mouse)
RGD
PMID:23460287 PMID:22763474 PMID:22308016 PMID:20351341 PMID:23357179
RGD:7248767 , RGD:7257530 , RGD:7257524 , RGD:7248777 , RGD:7248768
NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773
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ENTPD1
ectonucleoside triphosphate diphosphohydrolase 1
IEP
protein:decreased expression:abdominal fascia:
RGD
PMID:17469012
RGD:9685457
NCBI chr10:95,694,186...95,877,266
Ensembl chr10:95,711,779...95,877,266
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EPAS1
endothelial PAS domain protein 1
IEP
RGD
PMID:11159352
RGD:1580974
NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697
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EPHX1
epoxide hydrolase 1
IAGP EXP
DNA:polymorphism CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11283205 PMID:12173035 PMID:11283205
RGD:1601064
NCBI chr 1:225,810,124...225,845,563
Ensembl chr 1:225,810,124...225,845,563
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ERBB2
erb-b2 receptor tyrosine kinase 2
IEP
RGD
PMID:9158311
RGD:1580990
NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426
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ESR2
estrogen receptor 2
IAGP
RGD
PMID:15894829
RGD:1581016
NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112
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F2
coagulation factor II, thrombin
severity
IAGP
DNA:polymorphism: :20210G>A(human)
RGD
PMID:16246971
RGD:6893628
NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
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F2R
coagulation factor II thrombin receptor
IEP
RGD
PMID:12161502
RGD:1581033
NCBI chr 5:76,716,126...76,735,770
Ensembl chr 5:76,716,126...76,735,770
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F3
coagulation factor III, tissue factor
IEP
associated with Fetal Death;protein:increased expression:plasma
RGD
PMID:19736615
RGD:11340220
NCBI chr 1:94,529,173...94,541,759
Ensembl chr 1:94,529,173...94,541,759
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F5
coagulation factor V
severity
IAGP
DNA:mutation: :1691G>A(human)
RGD
PMID:16246971
RGD:6893628
NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588
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FABP4
fatty acid binding protein 4
IEP
protein:increased expression:blood serum (human)
RGD
PMID:19573524
RGD:329845853
NCBI chr 8:81,478,419...81,483,233
Ensembl chr 8:81,478,419...81,483,236
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FAS
Fas cell surface death receptor
susceptibility
IAGP
DNA:SNP:promoter:-670A>G (human) DNA:SNP:promoter:-670A>G(rs1800682)(human)
RGD
PMID:15695771 PMID:30066360
RGD:12903973 , RGD:14700669
NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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FASLG
Fas ligand
susceptibility
IAGP
DNA:SNP:intron:124A>G(rs5030772)(human)
RGD
PMID:30066360
RGD:14700669
NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
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FLT1
fms related receptor tyrosine kinase 1
IDA IEP EXP
mRNA,protein:increased expression:placenta CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18679377 PMID:28628106 PMID:15472115 PMID:22262697
RGD:1582493 , RGD:243048428
NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
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GAMT
guanidinoacetate N-methyltransferase
IEP
mRNA:increased expression:placenta
RGD
PMID:31991880
RGD:329961300
NCBI chr19:1,397,026...1,401,542
Ensembl chr19:1,397,026...1,401,570
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GATA2
GATA binding protein 2
onset
IEP
RGD
PMID:30659233
RGD:401850546
NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201
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GATM
glycine amidinotransferase
IEP
mRNA:increased expression:placenta
RGD
PMID:31991880
RGD:329961300
NCBI chr15:45,361,124...45,402,227
Ensembl chr15:45,361,124...45,402,327
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GC
GC vitamin D binding protein
IEP
mRNA:decreased expression:placenta (human)
RGD
PMID:32682061
RGD:401901078
NCBI chr 4:71,741,693...71,805,520
Ensembl chr 4:71,741,696...71,804,041
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GPX1
glutathione peroxidase 1
IEP
protein:decreased expression:placenta mRNA:decreased expression:placenta
RGD
PMID:20303587 PMID:18852388 PMID:28705740
RGD:401827170 , RGD:401827849 , RGD:401827825
NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605
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GPX3
glutathione peroxidase 3
IEP
protein:decreased expression:placenta mRNA:decreased expression:placenta
RGD
PMID:20303587 PMID:18852388 PMID:28705740
RGD:401827170 , RGD:401827849 , RGD:401827825
NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988
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GPX4
glutathione peroxidase 4
IEP
protein:decreased expression:placenta mRNA:decreased expression:placenta
RGD
PMID:20303587 PMID:18852388
RGD:401827170 , RGD:401827849
NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,982...1,106,791
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GSN
gelsolin
disease_progression
IEP
protein:decreased expression:blood plasma (human)
RGD
PMID:24239294
RGD:329337339
NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843
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GSTP1
glutathione S-transferase pi 1
susceptibility
IAGP
DNA:missense mutation:cds:p.I105V (human)
RGD
PMID:11826024
RGD:737707
NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
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H19
H19 imprinted maternally expressed transcript
ameliorates
ISO IEP
RNA:increased expression:placenta (human)
RGD
PMID:31203154 PMID:29522949
RGD:213230155 , RGD:242905198
NCBI chr11:1,995,176...2,001,266
Ensembl chr11:1,995,165...2,004,552
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HIF1A
hypoxia inducible factor 1 subunit alpha
IEP
protein:increased expression:chorionic villus (human)
RGD
PMID:22840297
RGD:155631283
NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
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HLA-A
major histocompatibility complex, class I, A
susceptibility
IAGP
DNA:polymorphism::HLA-A24:02(human) DNA:SNPs::multiple
RGD
PMID:33126849 PMID:19727231
RGD:401827097 , RGD:401827098
NCBI chr 6:29,942,532...29,945,870
Ensembl chr 6:29,941,260...29,949,572
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HLA-DQB1
major histocompatibility complex, class II, DQ beta 1
susceptibility
IAGP
DNA:polymorphism:cds:HLA-DQB1*04 (human)
RGD
PMID:10960630
RGD:36174024
NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
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HMOX1
heme oxygenase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22197494
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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HNF1A
HNF1 homeobox A
susceptibility
IAGP
associated with gestational diabetes;DNA:SNP:cd: p.I27L (rs1169288) (human)
RGD
PMID:31825269
RGD:329901812
NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512
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HP
haptoglobin
severity
IEP IAGP
protein:increased expression DNA:polymorphism
RGD
PMID:17220952 PMID:16879055
RGD:1626337 , RGD:1626343
NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
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HSD11B1
hydroxysteroid 11-beta dehydrogenase 1
susceptibility
IAGP
DNA:SNPs,haplotype: (rs2235543,rs846910) (human)
RGD
PMID:23659736
RGD:329901926
NCBI chr 1:209,686,179...209,734,929
Ensembl chr 1:209,686,178...209,734,949
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ICAM1
intercellular adhesion molecule 1
treatment
ISO
RGD
PMID:21830843
RGD:8547718
NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
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IDO1
indoleamine 2,3-dioxygenase 1
ISS
OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592
MouseDO
NCBI chr 8:39,913,891...39,928,790
Ensembl chr 8:39,902,275...39,928,790
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IL1RN
interleukin 1 receptor antagonist
IEP
protein:increased expression:serum (human)
RGD
PMID:21126355
RGD:6906962
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
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IL6
interleukin 6
ameliorates
ISO
RGD
PMID:31203154
RGD:213230155
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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INHBA
inhibin subunit beta A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17332518
NCBI chr 7:41,685,114...41,705,406
Ensembl chr 7:41,667,168...41,705,834
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ISCU
iron-sulfur cluster assembly enzyme
IEP
mRNA:decreased expression:chorionic villus (human)
RGD
PMID:22840297
RGD:155631283
NCBI chr12:108,561,463...108,569,384
Ensembl chr12:108,562,582...108,569,368
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ITGA4
integrin subunit alpha 4
ISO
protein:increased expression:blood, granulocyte (rat)
RGD
PMID:10694336
RGD:9698441
NCBI chr 2:181,457,205...181,538,940
Ensembl chr 2:181,457,202...181,538,940
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ITGAM
integrin subunit alpha M
IAGP IEP
DNA:missense mutations:CDS:p.M441K (rs1143680), p.T1000N (rs41321249) (human) protein:increased expression:neutrophil (human) associated with Fetal Growth Retardation;mRNA:decreased expression:placenta (human)
RGD
PMID:33539617 PMID:18437152 PMID:32014817
RGD:329853770 , RGD:329901825 , RGD:329901659
NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892
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ITPR1
inositol 1,4,5-trisphosphate receptor type 1
IEP
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506
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ITPR2
inositol 1,4,5-trisphosphate receptor type 2
IEP
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr12:26,335,352...26,833,194
Ensembl chr12:26,335,352...26,833,194
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ITPR3
inositol 1,4,5-trisphosphate receptor type 3
IEP
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 6:33,621,322...33,696,562
Ensembl chr 6:33,620,365...33,696,574
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KCNN4
potassium calcium-activated channel subfamily N member 4
IEP
protein:decreased expression:umbilical artery,umbilical vein (human)
RGD
PMID:23261940
RGD:329955574
NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976
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KISS1
KiSS-1 metastasis suppressor
IEP
mRNA:decreased expression:whole blood
RGD
PMID:16952198
RGD:2292128
NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491
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LCN2
lipocalin 2
IEP
protein:increased expression:serum,urine
RGD
PMID:23957217
RGD:126781721
NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
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LEP
leptin
ISO
protein:decreased expression:plasma
RGD
PMID:16021089
RGD:5128718
NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
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LEPR
leptin receptor
ISO
protein:increased expression:placenta
RGD
PMID:16021089
RGD:5128718
NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
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MIR1233-1
microRNA 1233-1
severity
IEP
miRNA:increased expression:blood serum (human)
RGD
PMID:25017274
RGD:155882496
NCBI chr15:34,382,069...34,382,150
Ensembl chr15:34,382,069...34,382,150
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MIR126
microRNA 126
HEP IEP
miRNA:decreased expression:blood serum (human)
RGD
PMID:25017274 PMID:30659233
RGD:155882496 , RGD:401850546
NCBI chr 9:136,670,602...136,670,686
Ensembl chr 9:136,670,602...136,670,686
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MIR144
microRNA 144
IEP
miRNA:decreased expression:blood serum (human)
RGD
PMID:25017274
RGD:155882496
NCBI chr17:28,861,533...28,861,618
Ensembl chr17:28,861,533...28,861,618
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MIR148A
microRNA 148a
ameliorates
ISO
RGD
PMID:31203154
RGD:213230155
NCBI chr 7:25,949,919...25,949,986
Ensembl chr 7:25,949,919...25,949,986
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MIR152
microRNA 152
ISO HEP
miRNA:increased expression:placenta miRNA:increased expression:blood serum (human)
RGD
PMID:31114978 PMID:25017274
RGD:21066344 , RGD:155882496
NCBI chr17:48,037,161...48,037,247
Ensembl chr17:48,037,161...48,037,247
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MIR155
microRNA 155
IEP
miRNA:increased expression:blood serum (human)
RGD
PMID:28700503
RGD:155882490
NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
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MIR15B
microRNA 15b
HEP
miRNA:decreased expression:blood serum (human)
RGD
PMID:25017274
RGD:155882496
NCBI chr 3:160,404,588...160,404,685
Ensembl chr 3:160,404,588...160,404,685
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MIR193A
microRNA 193a
HEP
miRNA:increased expression:blood serum (human)
RGD
PMID:25017274
RGD:155882496
NCBI chr17:31,559,996...31,560,083
Ensembl chr17:31,559,996...31,560,083
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MIR204
microRNA 204
HEP
miRNA:increased expression:blood serum (human)
RGD
PMID:25017274
RGD:155882496
NCBI chr 9:70,809,975...70,810,084
Ensembl chr 9:70,809,975...70,810,084
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MIR210
microRNA 210
disease_progression severity
IEP
miRNA:increased expression:placenta (human) miRNA:increased expression:blood serum (human) miRNA:increased expression:chorionic villus (human) miRNA:increased expression:blood plasma (human)
RGD
PMID:27746364 PMID:25017274 PMID:28700503 PMID:22840297 PMID:21388517
RGD:155260325 , RGD:155882496 , RGD:155882490 , RGD:155631283 , RGD:155269044
NCBI chr11:568,089...568,198
Ensembl chr11:568,089...568,198
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MIR216A
microRNA 216a
ameliorates
ISO
RGD
PMID:31203154
RGD:213230155
NCBI chr 2:55,988,950...55,989,059
Ensembl chr 2:55,988,950...55,989,059
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MIR25
microRNA 25
HEP
miRNA:increased expression:blood serum (human)
RGD
PMID:25017274
RGD:155882496
NCBI chr 7:100,093,560...100,093,643
Ensembl chr 7:100,093,560...100,093,643
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MIR296
microRNA 296
HEP
miRNA:increased expression:blood serum (human)
RGD
PMID:25017274
RGD:155882496
NCBI chr20:58,817,615...58,817,694
Ensembl chr20:58,817,615...58,817,694
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MIR32
microRNA 32
HEP
miRNA:increased expression:blood serum (human)
RGD
PMID:25017274
RGD:155882496
NCBI chr 9:109,046,229...109,046,298
Ensembl chr 9:109,046,229...109,046,298
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MIR335
microRNA 335
HEP
miRNA:decreased expression:blood serum (human)
RGD
PMID:25017274
RGD:155882496
NCBI chr 7:130,496,111...130,496,204
Ensembl chr 7:130,496,111...130,496,204
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MIR423
microRNA 423
IEP
miRNA:increased expression:plasma
RGD
PMID:30587375
RGD:158014896
NCBI chr17:30,117,079...30,117,172
Ensembl chr17:30,117,079...30,117,172
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MIR518B
microRNA 518b
HEP
miRNA:increased expression:blood serum (human)
RGD
PMID:25017274
RGD:155882496
NCBI chr19:53,702,737...53,702,819
Ensembl chr19:53,702,737...53,702,819
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MIR520A
microRNA 520a
IEP
miRNA:increased expression:blood serum (human)
RGD
PMID:25017274
RGD:155882496
NCBI chr19:53,690,881...53,690,965
Ensembl chr19:53,690,881...53,690,965
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MIR650
microRNA 650
HEP
miRNA:increased expression:blood serum (human)
RGD
PMID:25017274
RGD:155882496
NCBI chr22:22,822,776...22,822,871
Ensembl chr22:22,822,776...22,822,871
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MIR668
microRNA 668
HEP
miRNA:decreased expression:blood serum (human)
RGD
PMID:25017274
RGD:155882496
NCBI chr14:101,055,258...101,055,323
Ensembl chr14:101,055,258...101,055,323
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MMP2
matrix metallopeptidase 2
IEP
mRNA, protein:decreased expression:placenta
RGD
PMID:17083831
RGD:2290399
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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MMP9
matrix metallopeptidase 9
IEP ISO
mRNA, protein:decreased expression:placenta
RGD
PMID:17083831 PMID:23776237
RGD:2290399 , RGD:13204787
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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NOS3
nitric oxide synthase 3
treatment
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:29250138
RGD:13504712
NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
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NOTCH2
notch receptor 2
ISS
OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592
MouseDO
NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
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NR1H3
nuclear receptor subfamily 1 group H member 3
exacerbates
IEP
mRNA, protein:increased expression:placenta (human) mRNA:altered expression:placenta, adipose tissue (human)
RGD
PMID:28352810 PMID:20655109
RGD:401842369 , RGD:401850787
NCBI chr11:47,248,300...47,269,033
Ensembl chr11:47,248,300...47,269,033
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NSD1
nuclear receptor binding SET domain protein 1
IAGP
ClinVar Annotator: match by term: Preeclampsia
ClinVar
PMID:12464997 PMID:12807965 PMID:15942875 PMID:17565729 PMID:18414213 PMID:21196496 PMID:24412544 PMID:25741868 PMID:26690673 PMID:27834868 PMID:28492532 PMID:30719864 More...
NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
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OGG1
8-oxoguanine DNA glycosylase
IEP
mRNA:increased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219
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PDCD1
programmed cell death 1
treatment
IEP ISO
protein:increased expression:Treg cell
RGD
PMID:27277012 PMID:27277012
RGD:40886269 , RGD:40886269
NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
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PDE5A
phosphodiesterase 5A
ISO
RGD
PMID:18538317
RGD:2314465
NCBI chr 4:119,494,403...119,628,804
Ensembl chr 4:119,494,397...119,628,804
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PEG10
paternally expressed 10
onset
IEP
mRNA, protein:decreased expression:placenta (human) mRNA, protein:increased expression:placenta (human)
RGD
PMID:37464405 PMID:25526181 PMID:22137777
RGD:401851069 , RGD:401851074 , RGD:401851073
NCBI chr 7:94,656,325...94,669,695
Ensembl chr 7:94,656,325...94,669,695
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PGF
placental growth factor
IEP ISO
RGD
PMID:21756887 PMID:20720407
RGD:6483577 , RGD:6483779
NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626
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PLAUR
plasminogen activator, urokinase receptor
IEP
protein:increased expression:plasma
RGD
PMID:21722073
RGD:6484119
NCBI chr19:43,646,095...43,670,169
Ensembl chr19:43,646,095...43,670,547
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PML
PML nuclear body scaffold
IEP
mRNA:decreased expression:placenta (human)
RGD
PMID:20228380
RGD:41404689
NCBI chr15:73,994,716...74,047,827
Ensembl chr15:73,994,673...74,047,827
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PPARG
peroxisome proliferator activated receptor gamma
IDA EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:34995009 PMID:15562025
RGD:1580687
NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
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PROC
protein C, inactivator of coagulation factors Va and VIIIa
IDA
RGD
PMID:9065198
RGD:11564336
NCBI chr 2:127,418,427...127,429,242
Ensembl chr 2:127,418,427...127,429,242
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PTGS1
prostaglandin-endoperoxide synthase 1
ISS
OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592
MouseDO
NCBI chr 9:122,370,533...122,395,703
Ensembl chr 9:122,370,530...122,395,703
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PTPN2
protein tyrosine phosphatase non-receptor type 2
disease_progression
IEP
mRNA:decreased expression:placenta (human)
RGD
PMID:27746364
RGD:155260325
NCBI chr18:12,785,478...12,884,237
Ensembl chr18:12,785,478...12,929,643
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RARRES2
retinoic acid receptor responder 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34398343
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 serum (human) protein:decreased expression:umbilical cord,blood serum (human)
RGD
PMID:21173508 PMID:21299359
RGD:329845578 , RGD:329845866
NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744
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ROBO1
roundabout guidance receptor 1
IEP
mRNA,protein:increased expression:placenta
RGD
PMID:22262697
RGD:243048428
NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998
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ROBO4
roundabout guidance receptor 4
IEP
mRNA,protein:increased expression:placenta
RGD
PMID:22262697
RGD:243048428
NCBI chr11:124,883,691...124,897,865
Ensembl chr11:124,883,691...124,898,500
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RYR1
ryanodine receptor 1
IEP
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
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RYR2
ryanodine receptor 2
IEP
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
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RYR3
ryanodine receptor 3
IEP
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr15:33,310,967...33,866,102
Ensembl chr15:33,310,962...33,866,121
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S100G
S100 calcium binding protein G
IEP
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr X:16,650,158...16,654,670
Ensembl chr X:16,650,158...16,654,670
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SCNN1A
sodium channel epithelial 1 subunit alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16555725
NCBI chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730
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SERPINA1
serpin family A member 1
IEP
RGD
PMID:1852102
RGD:1643155
NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693
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SERPINE1
serpin family E member 1
IEP EXP
mRNA:increased expression:blood: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18679377 PMID:16952198
RGD:2292128
NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
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SERPINF2
serpin family F member 2
IEP
protein:increased expression:urine
RGD
PMID:1334334
RGD:1625535
NCBI chr17:1,742,871...1,755,265
Ensembl chr17:1,742,836...1,755,265
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SLC2A1
solute carrier family 2 member 1
IEP
mRNA:decreased expression:chorionic villus (human)
RGD
PMID:22840297
RGD:155631283
NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
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STOX1
storkhead box 1
no_association
IAGP IMP
DNA:missense mutation:cds:p.Y153H (human) human fetally expressed gene in a mouse model
RGD
PMID:15806103 PMID:23357179 PMID:17617193
RGD:11553888 , RGD:7248768 , RGD:11553890
NCBI chr10:68,827,531...68,895,432
Ensembl chr10:68,827,531...68,895,432
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TFPI
tissue factor pathway inhibitor
IEP
protein:increased expression:plasma:
RGD
PMID:10078579
RGD:11060132
NCBI chr 2:187,464,230...187,554,435
Ensembl chr 2:187,464,230...187,565,760
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TIMP1
TIMP metallopeptidase inhibitor 1
IEP
mRNA, protein:increased expression:placenta
RGD
PMID:17083831
RGD:2290399
NCBI chr X:47,582,436...47,586,789
Ensembl chr X:47,582,408...47,586,789
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TLR3
toll like receptor 3
ISO
protein:increased expression:placenta (rat)
RGD
PMID:19779466
RGD:5128769
NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,068,911...186,088,073
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TLR4
toll like receptor 4
IEP
RGD
PMID:16157088
RGD:1580682
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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TNF
tumor necrosis factor
ameliorates
IAGP ISO
RGD
PMID:15901845 PMID:31203154
RGD:1580314 , RGD:213230155
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TNFRSF1B
TNF receptor superfamily member 1B
IDA
human protein in rat model
RGD
PMID:21505354
RGD:5131211
NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
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TRPV5
transient receptor potential cation channel subfamily V member 5
IEP
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 7:142,908,101...142,933,746
Ensembl chr 7:142,908,101...142,933,746
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TRPV6
transient receptor potential cation channel subfamily V member 6
IEP
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 7:142,871,208...142,885,745
Ensembl chr 7:142,871,208...142,885,745
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UTS2
urotensin 2
IEP
RGD
PMID:15866083
RGD:1580806
NCBI chr 1:7,847,612...7,913,249
Ensembl chr 1:7,843,083...7,853,512
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VDR
vitamin D receptor
IEP
protein:decreased expression:placenta (human) mRNA:decreased expression:placenta (human) associated with Premature Birth; mRNA:increased expression:placenta (human)
RGD
PMID:22871339 PMID:36477942 PMID:32682061
RGD:401901075 , RGD:401901174 , RGD:401901078
NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
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VEGFA
vascular endothelial growth factor A
IAGP IEP
mRNA:decreased expression:chorionic villus (human)
RGD
PMID:16517614 PMID:22840297
RGD:1580566 , RGD:155631283
NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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STOX1
storkhead box 1
IAGP EXP
ClinVar Annotator: match by term: Preeclampsia/eclampsia 4 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:15806103 PMID:17325670 PMID:25741868 PMID:33116287
NCBI chr10:68,827,531...68,895,432
Ensembl chr10:68,827,531...68,895,432
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CORIN
corin, serine peptidase
IAGP
ClinVar Annotator: match by term: Preeclampsia/eclampsia 5
OMIM ClinVar
PMID:22437503 PMID:24828501 PMID:25741868 PMID:28492532
NCBI chr 4:47,594,001...47,838,067
Ensembl chr 4:47,593,999...47,838,106
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PECAM1
platelet and endothelial cell adhesion molecule 1
IDA
RGD
PMID:22534418
RGD:6771230
NCBI chr17:64,319,415...64,390,860
Ensembl chr17:64,319,415...64,413,776
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REN
renin
IEP
protein:increased activity:blood plasma (human)
RGD
PMID:683663
RGD:125097480
NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324
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ACE
angiotensin I converting enzyme
ISO
RGD
PMID:17977916
RGD:8548898
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
ISO
RGD
PMID:17977916
RGD:8548898
NCBI chr X:15,518,197...15,607,211
Ensembl chr X:15,494,566...15,607,236
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AGT
angiotensinogen
ISO
RGD
PMID:17977916
RGD:8548898
NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
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EDN1
endothelin 1
no_association
IAGP
DNA:transversion:exon:p.K198N rs5370 (human)
RGD
PMID:19730395 PMID:11593097
RGD:4145063 , RGD:4145070
NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
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GPX3
glutathione peroxidase 3
IEP
protein:increased expression:plasma
RGD
PMID:8244188
RGD:401827853
NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988
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HMOX1
heme oxygenase 1
treatment
ISO
RGD
PMID:21383306
RGD:10755723
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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HP
haptoglobin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
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NOS3
nitric oxide synthase 3
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypertension, pregnancy-induced, susceptibility to
CTD ClinVar
PMID:9737779 PMID:9894802 PMID:10475066 PMID:10510054 PMID:10514107 PMID:11026457 PMID:11354626 PMID:11394896 PMID:11745998 PMID:15007011 PMID:16059745 PMID:16813604 PMID:17165044 PMID:24033266 PMID:25741868 More...
NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
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RBP4
retinol binding protein 4
IEP
protein:increased expression, decreased expression:blood serum, umbilical cord blood (human)
RGD
PMID:19708176
RGD:329849109
NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744
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TFPI
tissue factor pathway inhibitor
ISO
mRNA:decreased expression:aorta:
RGD
PMID:26104991
RGD:11062065
NCBI chr 2:187,464,230...187,554,435
Ensembl chr 2:187,464,230...187,565,760
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TNF
tumor necrosis factor
treatment
ISO
RGD
PMID:18981324
RGD:13825265
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
G
ABI2
abl interactor 2
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:203,328,394...203,432,169
Ensembl chr 2:203,328,280...203,447,728
G
ACADL
acyl-CoA dehydrogenase long chain
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:210,187,923...210,225,447
Ensembl chr 2:210,187,126...210,225,447
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ACVRL1
activin A receptor like type 1
IAGP
ClinVar Annotator: match by term: Heritable pulmonary arterial hypertension
ClinVar
PMID:25741868 PMID:28492532 PMID:31727138
NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361
G
ADAM23
ADAM metallopeptidase domain 23
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:206,443,532...206,621,127
Ensembl chr 2:206,443,532...206,621,127
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ADORA2A
adenosine A2a receptor
ISS
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
MouseDO
NCBI chr22:24,423,597...24,442,357
Ensembl chr22:24,417,879...24,442,357
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ALS2
alsin Rho guanine nucleotide exchange factor ALS2
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074
NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112
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BMPR1B
bone morphogenetic protein receptor type 1B
IAGP
ClinVar Annotator: match by term: Idiopathic pulmonary arterial hypertension
ClinVar
PMID:22374147 PMID:25741868 PMID:25758993 PMID:28492532
NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
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BMPR2
bone morphogenetic protein receptor type 2
EXP IAGP ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar Annotator: match by term: Pulmonary hypertension, primary, fenfluramine-associated ClinVar Annotator: match by term: Pulmonary hypertension, primary, dexfenfluramine-associated OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension
CTD ClinVar MouseDO
PMID:3291115 PMID:9536098 PMID:10903931 PMID:10973254 PMID:11015450 PMID:11115378 PMID:11502704 PMID:11536076 PMID:12045205 PMID:12139571 PMID:12358323 PMID:12417513 PMID:12821254 PMID:14985116 PMID:15059534 PMID:15146475 PMID:15358693 PMID:15591269 PMID:15775752 PMID:15965979 PMID:16199547 PMID:16429395 PMID:16429403 PMID:16717148 PMID:16728714 PMID:17515463 PMID:17576681 PMID:18159113 PMID:18321866 PMID:18356561 PMID:18503968 PMID:19206171 PMID:19223935 PMID:19324947 PMID:19555857 PMID:19844076 PMID:20002458 PMID:20096498 PMID:20534176 PMID:21070126 PMID:21228398 PMID:21737554 PMID:21801371 PMID:21920918 PMID:22632830 PMID:22995991 PMID:23298310 PMID:23579436 PMID:23592887 PMID:23675998 PMID:24033266 PMID:24853021 PMID:24936649 PMID:25187962 PMID:25429696 PMID:25460361 PMID:25612240 PMID:25640679 PMID:25688877 PMID:25741868 PMID:25917481 PMID:26387786 PMID:26645265 PMID:26699722 PMID:26820968 PMID:27453251 PMID:27630060 PMID:27811071 PMID:27816994 PMID:27884767 PMID:28388887 PMID:28480048 PMID:28492532 PMID:28507310 PMID:29631995 PMID:29650961 PMID:29743074 PMID:29843651 PMID:30029678 PMID:30578397 PMID:30679663 PMID:30809644 PMID:30957726 PMID:31727138 PMID:31797984 PMID:32368696 PMID:32581362 PMID:33066286 PMID:34400635 PMID:36675162 More...
NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751
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C2orf80
chromosome 2 open reading frame 80
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:208,165,347...208,190,030
Ensembl chr 2:208,165,343...208,190,030
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CARF
calcium responsive transcription factor
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:202,912,275...202,988,263
Ensembl chr 2:202,912,214...202,988,263
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CAV1
caveolin 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
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CCNYL1
cyclin Y like 1
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:207,711,640...207,756,174
Ensembl chr 2:207,711,540...207,761,839
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CD28
CD28 molecule
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,517...203,739,756
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CDK15
cyclin dependent kinase 15
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074
NCBI chr 2:201,806,429...201,895,550
Ensembl chr 2:201,790,461...201,895,550
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CMKLR2
chemerin chemokine-like receptor 2
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:206,175,316...206,217,912
Ensembl chr 2:206,175,316...206,218,047
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CPO
carboxypeptidase O
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:206,939,518...206,969,474
Ensembl chr 2:206,939,518...206,969,474
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CPS1
carbamoyl-phosphate synthase 1
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:210,477,685...210,679,107
Ensembl chr 2:210,477,682...210,679,107
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CREB1
cAMP responsive element binding protein 1
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:207,529,962...207,605,988
Ensembl chr 2:207,529,737...207,605,988
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CRYGA
crystallin gamma A
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:208,160,740...208,163,589
Ensembl chr 2:208,160,740...208,163,589
G
CRYGB
crystallin gamma B
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:208,142,573...208,146,158
Ensembl chr 2:208,142,573...208,146,158
G
CRYGC
crystallin gamma C
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:208,128,137...208,129,828
Ensembl chr 2:208,128,137...208,129,828
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CRYGD
crystallin gamma D
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:208,121,607...208,124,524
Ensembl chr 2:208,121,607...208,124,524
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CTLA4
cytotoxic T-lymphocyte associated protein 4
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
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CYP20A1
cytochrome P450 family 20 subfamily A member 1
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:203,239,018...203,306,026
Ensembl chr 2:203,238,977...203,306,026
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DYTN
dystrotelin
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:206,651,621...206,718,396
Ensembl chr 2:206,651,621...206,721,570
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EEF1B2
eukaryotic translation elongation factor 1 beta 2
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:206,159,609...206,162,928
Ensembl chr 2:206,159,585...206,162,928
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FAM117B
family with sequence similarity 117 member B
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:202,634,969...202,769,757
Ensembl chr 2:202,634,969...202,769,757
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FASTKD2
FAST kinase domains 2
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:206,765,606...206,796,189
Ensembl chr 2:206,765,357...206,796,189
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FBXO32
F-box protein 32
IEP
mRNA:increased expression:vastus lateralis
RGD
PMID:23972212
RGD:329812002
NCBI chr 8:123,497,889...123,541,206
Ensembl chr 8:123,497,889...123,541,206
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FGFR2
fibroblast growth factor receptor 2
IEP
protein:increased expression:lung (human)
RGD
PMID:29722558
RGD:155791445
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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FOXF1
forkhead box F1
IAGP
ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension
ClinVar
PMID:19500772 PMID:19592680 PMID:19812545 PMID:20425831 PMID:22766610 PMID:23034409 PMID:23074687 PMID:23335808 PMID:23505205 PMID:23943206 PMID:24033266 PMID:24842713 PMID:26462560 More...
NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422
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FZD5
frizzled class receptor 5
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:207,762,598...207,769,906
Ensembl chr 2:207,762,598...207,769,906
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FZD7
frizzled class receptor 7
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074
NCBI chr 2:202,033,855...202,038,441
Ensembl chr 2:202,033,855...202,038,441
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HDAC1
histone deacetylase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22711276
NCBI chr 1:32,292,083...32,333,626
Ensembl chr 1:32,292,083...32,333,635
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HDAC4
histone deacetylase 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22711276
NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654
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HDAC5
histone deacetylase 5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22711276
NCBI chr17:44,076,753...44,123,641
Ensembl chr17:44,076,746...44,123,702
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ICA1L
islet cell autoantigen 1 like
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:202,773,176...202,871,766
Ensembl chr 2:202,773,150...202,871,766
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ICOS
inducible T cell costimulator
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577
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ID1
inhibitor of DNA binding 1
IEP
protein:decreased expression:lung, wall of arteriole (human)
RGD
PMID:20522807
RGD:9686087
NCBI chr20:31,605,289...31,606,510
Ensembl chr20:31,573,014...31,606,515
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IDH1
isocitrate dehydrogenase (NADP(+)) 1
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
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INO80D
INO80 complex subunit D
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:205,993,721...206,086,174
Ensembl chr 2:205,993,721...206,086,303
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KANSL1L
KAT8 regulatory NSL complex subunit 1 like
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:210,021,421...210,172,760
Ensembl chr 2:210,021,421...210,171,409
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KCNK3
potassium two pore domain channel subfamily K member 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 2:26,692,722...26,733,420
Ensembl chr 2:26,692,722...26,733,420
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KLF7
KLF transcription factor 7
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:207,074,137...207,173,851
Ensembl chr 2:207,074,137...207,173,856
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LANCL1
LanC like glutathione S-transferase 1
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:210,431,251...210,477,584
Ensembl chr 2:210,427,131...210,477,652
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LOC129935434
ATAC-STARR-seq lymphoblastoid silent region 12244
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:19223935 PMID:25741868 PMID:28492532
NCBI chr 2:202,376,775...202,376,834
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MAP2
microtubule associated protein 2
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:209,424,047...209,734,112
Ensembl chr 2:209,424,047...209,734,147
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MDH1B
malate dehydrogenase 1B
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:206,737,763...206,765,328
Ensembl chr 2:206,737,763...206,765,328
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METTL21A
methyltransferase 21A, HSPA lysine
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:207,580,635...207,626,053
Ensembl chr 2:207,580,631...207,625,928
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MFN1
mitofusin 1
IEP
protein:decreased expression:vastus lateralis
RGD
PMID:23972212
RGD:329812002
NCBI chr 3:179,347,709...179,394,936
Ensembl chr 3:179,347,709...179,394,936
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MFN2
mitofusin 2
IEP
protein:decreased expression:vastus lateralis
RGD
PMID:23972212
RGD:329812002
NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
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MIR23A
microRNA 23a
IEP
RNA:increased expression:serum
RGD
PMID:25815108
RGD:155882560
NCBI chr19:13,836,587...13,836,659
Ensembl chr19:13,836,587...13,836,659
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MYL1
myosin light chain 1
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:210,290,150...210,315,174
Ensembl chr 2:210,290,150...210,315,174
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NBEAL1
neurobeachin like 1
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:203,014,608...203,225,194
Ensembl chr 2:203,014,608...203,226,378
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NDUFS1
NADH:ubiquinone oxidoreductase core subunit S1
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:206,114,817...206,159,444
Ensembl chr 2:206,114,817...206,159,509
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NOP58
NOP58 ribonucleoprotein
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074
NCBI chr 2:202,265,763...202,303,661
Ensembl chr 2:202,265,736...202,303,661
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NRP2
neuropilin 2
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:205,682,501...205,798,131
Ensembl chr 2:205,681,990...205,798,133
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PARD3B
par-3 family cell polarity regulator beta
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:204,545,475...205,620,162
Ensembl chr 2:204,545,475...205,620,162
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PIKFYVE
phosphoinositide kinase, FYVE-type zinc finger containing
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:208,266,056...208,358,746
Ensembl chr 2:208,266,255...208,358,746
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PLEKHM3
pleckstrin homology domain containing M3
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:207,821,288...208,025,527
Ensembl chr 2:207,821,288...208,025,527
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PPARG
peroxisome proliferator activated receptor gamma
ISS
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
MouseDO
NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
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PTGIS
prostaglandin I2 synthase
IAGP
DNA:SNP, missense mutations:intron 4, CDS:c.521+1G>A, p.R252Q (c.755G>A), p.A447T (c.1339G>A) (, rs759344518, rs146531327) (human)
RGD
PMID:32236489
RGD:401901150
NCBI chr20:49,503,874...49,568,137
Ensembl chr20:49,503,874...49,568,137
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PTH2R
parathyroid hormone 2 receptor
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:208,359,692...208,494,506
Ensembl chr 2:208,359,714...208,854,503
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RAPH1
Ras association (RalGDS/AF-6) and pleckstrin homology domains 1
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:203,433,682...203,535,301
Ensembl chr 2:203,394,345...203,535,335
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RFC1
replication factor C subunit 1
HEP
mRNA:increased expression:lung (human)
RGD
PMID:37410515
RGD:401940160
NCBI chr 4:39,287,456...39,366,362
Ensembl chr 4:39,287,456...39,366,375
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RPE
ribulose-5-phosphate-3-epimerase
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:210,002,638...210,022,260
Ensembl chr 2:210,002,565...210,022,260
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RYR1
ryanodine receptor 1
IDA
protein:increased phosphorylation:vastus lateralis
RGD
PMID:23972212
RGD:329812002
NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
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SMAD9
SMAD family member 9
EXP ISS
CTD Direct Evidence: marker/mechanism OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
CTD MouseDO
NCBI chr13:36,844,831...36,920,854
Ensembl chr13:36,844,831...36,920,887
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SOX17
SRY-box transcription factor 17
IEP
protein:decreased expression:pulmonary artery (human)
RGD
PMID:36919784
RGD:329853737
NCBI chr 8:54,457,935...54,460,892
Ensembl chr 8:54,457,935...54,460,892
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SUMO1
small ubiquitin like modifier 1
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074
NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
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TNFSF4
TNF superfamily member 4
ISS
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
MouseDO
NCBI chr 1:173,172,870...173,450,733
Ensembl chr 1:173,162,645...173,477,583
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TRIM63
tripartite motif containing 63
IEP
mRNA, protein:increased expression:vastus lateralis
RGD
PMID:23972212
RGD:329812002
NCBI chr 1:26,051,301...26,067,630
Ensembl chr 1:26,051,301...26,068,436
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UNC80
unc-80 homolog, NALCN channel complex subunit
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:209,771,832...209,999,296
Ensembl chr 2:209,771,569...209,999,300
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VIP
vasoactive intestinal peptide
ISS
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
MouseDO
NCBI chr 6:152,750,797...152,759,760
Ensembl chr 6:152,750,797...152,759,765
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WDR12
WD repeat domain 12
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:202,874,261...202,911,673
Ensembl chr 2:202,874,261...203,014,798
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ZDBF2
zinc finger DBF-type containing 2
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:206,274,663...206,314,427
Ensembl chr 2:206,274,663...206,314,427
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ACVRL1
activin A receptor like type 1
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:9245985 PMID:12700602 PMID:14684682 PMID:15024723 PMID:15879500 PMID:15880681 PMID:16429404 PMID:16470787 PMID:16540754 PMID:16690726 PMID:16705692 PMID:17384219 PMID:18159113 PMID:18495117 PMID:18498373 PMID:19555857 PMID:20414677 PMID:20501893 PMID:21158752 PMID:22632830 PMID:23298310 PMID:23535011 PMID:23722869 PMID:24753439 PMID:25557927 PMID:25741868 PMID:26387786 PMID:27316748 PMID:28492532 PMID:28918311 PMID:29449337 PMID:29515340 PMID:31400083 PMID:31727138 PMID:32300199 PMID:32503579 PMID:32581362 PMID:34872578 More...
NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361
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AL162586.1
novel transcript
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:18498373 PMID:23298310 PMID:24033266 PMID:25741868 PMID:26167679 PMID:28492532 PMID:30029678 More...
NCBI chr 9:127,816,066...127,822,520
Ensembl chr 9:127,816,066...127,822,520
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BMPR2
bone morphogenetic protein receptor type 2
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia ClinVar Annotator: match by term: BMPR2-related disorder | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
OMIM ClinVar
PMID:3291115 PMID:9536098 PMID:9886286 PMID:10903931 PMID:10973254 PMID:11015450 PMID:11115378 PMID:11502704 PMID:11536076 PMID:12045205 PMID:12139571 PMID:12358323 PMID:12417513 PMID:12446270 PMID:12821254 PMID:14516151 PMID:14583445 PMID:14985116 PMID:15055271 PMID:15059534 PMID:15146475 PMID:15170098 PMID:15358693 PMID:15591269 PMID:15687131 PMID:15775752 PMID:15965979 PMID:16199547 PMID:16429395 PMID:16429403 PMID:16717148 PMID:16728714 PMID:17515463 PMID:17576681 PMID:18159113 PMID:18221724 PMID:18321866 PMID:18356561 PMID:18364108 PMID:18386374 PMID:18503968 PMID:18792970 PMID:19206171 PMID:19223935 PMID:19324947 PMID:19555857 PMID:19844076 PMID:20002458 PMID:20095988 PMID:20096498 PMID:20496075 PMID:20534176 PMID:21070126 PMID:21228398 PMID:21737554 PMID:21801371 PMID:22632830 PMID:22995991 PMID:23139147 PMID:23298310 PMID:23579436 PMID:23592887 PMID:23675998 PMID:24033266 PMID:24591673 PMID:24853021 PMID:24936649 PMID:25187962 PMID:25429696 PMID:25612240 PMID:25640679 PMID:25688877 PMID:25741868 PMID:25917481 PMID:26387786 PMID:26645265 PMID:26699722 PMID:27002414 PMID:27453251 PMID:27630060 PMID:27811071 PMID:27816994 PMID:27884767 PMID:28388887 PMID:28391780 PMID:28492532 PMID:28507310 PMID:29631995 PMID:29650961 PMID:29743074 PMID:29843651 PMID:30029678 PMID:30578397 PMID:30679663 PMID:30809644 PMID:31727138 PMID:31797984 PMID:32581362 PMID:33066286 PMID:33380512 PMID:34400635 PMID:36675162 More...
NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751
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ENG
endoglin
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:16690726 PMID:16754821 PMID:18498373 PMID:23298310 PMID:24033266 PMID:25741868 PMID:26167679 PMID:26387786 PMID:28492532 PMID:30029678 PMID:30665703 PMID:31019283 More...
NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773
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KCNA5
potassium voltage-gated channel subfamily A member 5
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:20018952 PMID:21685056 PMID:23861362 PMID:24068186 PMID:25076992 PMID:28492532 More...
NCBI chr12:5,043,879...5,046,788
Ensembl chr12:5,043,879...5,046,788
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KCNK3
potassium two pore domain channel subfamily K member 3
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23883380
NCBI chr 2:26,692,722...26,733,420
Ensembl chr 2:26,692,722...26,733,420
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LOC129388983
MPRA-validated peak4014 silencer
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436
NCBI chr 2:202,312,153...202,312,353
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LOC129935429
ATAC-STARR-seq lymphoblastoid active region 16999
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436
NCBI chr 2:202,375,175...202,375,334
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LOC129935430
ATAC-STARR-seq lymphoblastoid active region 17000
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436
NCBI chr 2:202,375,445...202,375,734
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LOC129935431
ATAC-STARR-seq lymphoblastoid silent region 12241
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436
NCBI chr 2:202,375,825...202,375,874
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LOC129935432
ATAC-STARR-seq lymphoblastoid silent region 12242
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436
NCBI chr 2:202,376,025...202,376,514
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LOC129935433
ATAC-STARR-seq lymphoblastoid silent region 12243
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436
NCBI chr 2:202,376,645...202,376,704
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LOC129935434
ATAC-STARR-seq lymphoblastoid silent region 12244
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:19223935 PMID:23579436 PMID:25741868 PMID:28492532
NCBI chr 2:202,376,775...202,376,834
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LOC129935435
ATAC-STARR-seq lymphoblastoid active region 17001
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:11115378 PMID:16429403 PMID:16728714 PMID:18356561 PMID:19555857 PMID:20534176 PMID:21801371 PMID:23298310 PMID:23579436 PMID:23675998 PMID:26387786 More...
NCBI chr 2:202,377,675...202,377,744
G
LOC129935436
ATAC-STARR-seq lymphoblastoid silent region 12245
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:16429403 PMID:16728714 PMID:18356561 PMID:20534176 PMID:21737554 PMID:21801371 PMID:23579436 PMID:26387786 More...
NCBI chr 2:202,545,681...202,545,750
G
LOC130009576
ATAC-STARR-seq lymphoblastoid silent region 5268
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
NCBI chr13:36,920,149...36,920,218
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NOP58
NOP58 ribonucleoprotein
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436
NCBI chr 2:202,265,763...202,303,661
Ensembl chr 2:202,265,736...202,303,661
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PAH
phenylalanine hydroxylase
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:1301187 PMID:1682234 PMID:1769645 PMID:2044609 PMID:2574153 PMID:8116675 PMID:8304187 PMID:8533759 PMID:8831077 PMID:9634518 PMID:10234516 PMID:10598814 PMID:10693064 PMID:11180595 PMID:11385716 PMID:11461196 PMID:11524738 PMID:11588399 PMID:12409276 PMID:12649065 PMID:12655546 PMID:12655553 PMID:12765842 PMID:15503242 PMID:16601866 PMID:16755493 PMID:16879198 PMID:17096675 PMID:17924342 PMID:17935162 PMID:18294361 PMID:18299955 PMID:19062537 PMID:19394257 PMID:20082265 PMID:20920871 PMID:21147011 PMID:22513348 PMID:22841515 PMID:23074961 PMID:23357515 PMID:23500595 PMID:23792259 PMID:24048906 PMID:24301756 PMID:24350308 PMID:24401910 PMID:25525159 PMID:25596310 PMID:25741868 PMID:26351554 PMID:26467025 PMID:26503515 PMID:26666653 PMID:26982749 PMID:28492532 PMID:28982351 PMID:29499199 PMID:29997390 PMID:30050108 PMID:30067850 PMID:30311390 PMID:31355225 PMID:31623983 PMID:32668217 PMID:33677757 More...
NCBI chr12:102,836,889...102,958,441
Ensembl chr12:102,836,889...102,958,410
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SMAD1
SMAD family member 1
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:21898662
NCBI chr 4:145,480,770...145,559,176
Ensembl chr 4:145,481,194...145,559,176
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SMAD1-AS1
SMAD1 antisense RNA 1
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:21898662
NCBI chr 4:145,514,578...145,517,194
Ensembl chr 4:145,514,615...145,517,118
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SMAD4
SMAD family member 4
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:21898662 PMID:24728327 PMID:25502805 PMID:25741868 PMID:28492532 PMID:31515488 More...
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
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SMAD9
SMAD family member 9
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:25741868
NCBI chr13:36,844,831...36,920,854
Ensembl chr13:36,844,831...36,920,887
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SNORD11
small nucleolar RNA, C/D box 11
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436
NCBI chr 2:202,293,051...202,293,134
Ensembl chr 2:202,293,051...202,293,134
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SNORD11B
small nucleolar RNA, C/D box 11B
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436
NCBI chr 2:202,291,317...202,291,428
Ensembl chr 2:202,291,332...202,291,421
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SNORD70
small nucleolar RNA, C/D box 70
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436
NCBI chr 2:202,276,431...202,276,518
Ensembl chr 2:202,276,431...202,276,518
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SNORD70B
small nucleolar RNA, C/D box 70B
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436
NCBI chr 2:202,278,113...202,278,187
Ensembl chr 2:202,278,108...202,278,192
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TBX4
T-box transcription factor 4
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:9536098 PMID:15106123 PMID:16199547 PMID:17576681 PMID:23592887 PMID:25741868 PMID:27587546 PMID:28492532 PMID:29120062 PMID:29631995 PMID:29650961 PMID:30004997 PMID:30029678 PMID:30578397 PMID:31151956 PMID:31727138 PMID:31761294 PMID:31965066 PMID:32079640 PMID:32348326 PMID:32581362 PMID:32860008 PMID:33066286 PMID:33971972 PMID:34557690 More...
NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110
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SMAD9
SMAD family member 9
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 2
ClinVar OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19211612 PMID:19419974 PMID:21898662 PMID:21920918 PMID:24033266 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29631995 PMID:29650961 PMID:30029678 PMID:31727138 More...
NCBI chr13:36,844,831...36,920,854
Ensembl chr13:36,844,831...36,920,887
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BMPR1B
bone morphogenetic protein receptor type 1B
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
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CAV1
caveolin 1
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3
OMIM ClinVar
PMID:22474227 PMID:25741868 PMID:28492532 PMID:29231014 PMID:31727138
NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
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LOC129999168
ATAC-STARR-seq lymphoblastoid silent region 18557
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3
ClinVar
PMID:28492532
NCBI chr 7:116,526,018...116,526,407
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LOC129999169
ATAC-STARR-seq lymphoblastoid silent region 18558
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:116,526,638...116,526,737
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KCNK3
potassium two pore domain channel subfamily K member 3
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 4
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:23883380 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28889099 PMID:29650961 PMID:29743074 PMID:30578397 More...
NCBI chr 2:26,692,722...26,733,420
Ensembl chr 2:26,692,722...26,733,420
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ATP13A3
ATPase 13A3
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, autosomal recessive
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30679663 PMID:31727138 PMID:34493544 PMID:35204766 More...
NCBI chr 3:194,402,677...194,494,334
Ensembl chr 3:194,402,672...194,498,364
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CAPNS1
calpain small subunit 1
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 6
ClinVar OMIM
PMID:21972389 PMID:38230350
NCBI chr19:36,140,066...36,150,353
Ensembl chr19:36,139,953...36,150,353
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CALCA
calcitonin related polypeptide alpha
ISO
RGD
PMID:15928032
RGD:7204486
NCBI chr11:14,966,668...14,972,351
Ensembl chr11:14,966,622...14,972,354
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ABCA3
ATP binding cassette subfamily A member 3
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:15976379 PMID:17597647 PMID:18246475 PMID:18317237 PMID:18603241 PMID:18676873 PMID:22145626 PMID:22304854 PMID:22434821 PMID:22435821 PMID:22800827 PMID:22866751 PMID:23166334 PMID:23625987 PMID:24033266 PMID:24136335 PMID:24871971 PMID:25073622 PMID:25553246 PMID:25741868 PMID:27374344 PMID:27516224 PMID:28034695 PMID:28492532 PMID:29431110 PMID:29505158 PMID:29566461 PMID:30609409 PMID:30755392 PMID:31589614 PMID:31980526 PMID:32238781 PMID:32692933 PMID:33110422 PMID:33526094 PMID:34132118 PMID:34715861 PMID:35170262 PMID:35626240 More...
NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
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ABCC8
ATP binding cassette subfamily C member 8
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25117148 PMID:25741868
NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894
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ABI2
abl interactor 2
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:203,328,394...203,432,169
Ensembl chr 2:203,328,280...203,447,728
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ACVRL1
activin A receptor like type 1
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:11484689 PMID:15024723 PMID:15517393 PMID:15687131 PMID:16429404 PMID:16470787 PMID:16540754 PMID:16752392 PMID:17384219 PMID:17786384 PMID:18159113 PMID:18495117 PMID:18498373 PMID:18673552 PMID:19767588 PMID:20056902 PMID:20501893 PMID:21378382 PMID:22632830 PMID:23124896 PMID:23298310 PMID:23919827 PMID:24033266 PMID:24753439 PMID:25741868 PMID:25970827 PMID:26387786 PMID:27316748 PMID:27587546 PMID:28492532 PMID:29449337 PMID:29650961 PMID:29743074 PMID:30260738 PMID:30303062 PMID:30578383 PMID:31019026 PMID:32300199 PMID:32503579 PMID:32581362 PMID:32899377 More...
NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361
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AHR
aryl hydrocarbon receptor
severity
EXP IEP
CTD Direct Evidence: marker/mechanism protein:increased activity:serum (human)
CTD RGD
PMID:33836606 PMID:33836606
RGD:401940192
NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152
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AHSP
alpha hemoglobin stabilizing protein
IEP
mRNA:altered expression: (human)
RGD
PMID:35710932
RGD:329961295
NCBI chr16:31,527,900...31,528,803
Ensembl chr16:31,527,900...31,528,803
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AL162586.1
novel transcript
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease
ClinVar
PMID:18498373 PMID:23298310 PMID:24033266 PMID:25741868 PMID:26167679 PMID:28492532 PMID:30029678 PMID:32581362 More...
NCBI chr 9:127,816,066...127,822,520
Ensembl chr 9:127,816,066...127,822,520
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ALS2
alsin Rho guanine nucleotide exchange factor ALS2
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112
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AOX1
aldehyde oxidase 1
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:200,586,014...200,682,241
Ensembl chr 2:200,586,014...200,677,064
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APLN
apelin
treatment
ISO
RGD
PMID:23867624
RGD:329848996
NCBI chr X:129,645,259...129,654,956
Ensembl chr X:129,645,259...129,654,956
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ATP13A3
ATPase 13A3
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868 PMID:28492532 PMID:30679663 PMID:31727138 PMID:34493544 PMID:35204766 More...
NCBI chr 3:194,402,677...194,494,334
Ensembl chr 3:194,402,672...194,498,364
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AXIN2
axin 2
exacerbates
ISO
RGD
PMID:28694128
RGD:151356920
NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
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BMP7
bone morphogenetic protein 7
ISO
protein:increased expression:lung, pulmonary artery (rat)
RGD
PMID:31542483
RGD:155888480
NCBI chr20:57,168,753...57,266,641
Ensembl chr20:57,168,753...57,266,641
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BMPR1A
bone morphogenetic protein receptor type 1A
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:24121792 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30029678 PMID:31727138 More...
NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825
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BMPR1B
bone morphogenetic protein receptor type 1B
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease
ClinVar
PMID:25741868 PMID:30029678
NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
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BMPR2
bone morphogenetic protein receptor type 2
treatment
IAGP ISO EXP
ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:3291115 PMID:9536098 PMID:9886286 PMID:10903931 PMID:10973254 PMID:11015450 PMID:11115378 PMID:11502704 PMID:11536076 PMID:12045205 PMID:12358323 PMID:12417513 PMID:12821254 PMID:14985116 PMID:15059534 PMID:15146475 PMID:15358693 PMID:15591269 PMID:15687131 PMID:15965979 PMID:16199547 PMID:16429395 PMID:16717148 PMID:16728714 PMID:17515463 PMID:17576681 PMID:18159113 PMID:18321866 PMID:18356561 PMID:18503968 PMID:19223935 PMID:19324947 PMID:19555857 PMID:20002458 PMID:20095988 PMID:20096498 PMID:20496075 PMID:20534176 PMID:21070126 PMID:21737554 PMID:21801371 PMID:22632830 PMID:23298310 PMID:23579436 PMID:23592887 PMID:23675998 PMID:24033266 PMID:24591673 PMID:25187962 PMID:25429696 PMID:25612240 PMID:25688877 PMID:25741868 PMID:25917481 PMID:26387786 PMID:26645265 PMID:27002414 PMID:27811071 PMID:27816994 PMID:27884767 PMID:28388887 PMID:28415675 PMID:28480048 PMID:28492532 PMID:29631995 PMID:29650961 PMID:29743074 PMID:29843651 PMID:30029678 PMID:30578397 PMID:30809644 PMID:31727138 PMID:31797984 PMID:32581362 PMID:33380512 PMID:34400635 PMID:36675162 PMID:23867624 More...
RGD:329848996
NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751
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BZW1
basic leucine zipper and W2 domains 1
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:200,811,589...200,827,338
Ensembl chr 2:200,810,594...200,827,338
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C2CD6
C2 calcium dependent domain containing 6
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:201,487,421...201,619,178
Ensembl chr 2:201,487,421...201,619,178
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CARF
calcium responsive transcription factor
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:202,912,275...202,988,263
Ensembl chr 2:202,912,214...202,988,263
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CASP10
caspase 10
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428
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CASP8
caspase 8
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:201,233,463...201,287,711
Ensembl chr 2:201,233,443...201,361,836
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CAV1
caveolin 1
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease
ClinVar
PMID:25741868 PMID:30029678
NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
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CD28
CD28 molecule
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,517...203,739,756
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CDH2
cadherin 2
IEP
mRNA:increased expression:lung
RGD
PMID:25593290
RGD:38500244
NCBI chr18:27,932,879...28,177,130
Ensembl chr18:27,932,879...28,177,946
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CDK15
cyclin dependent kinase 15
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:201,806,429...201,895,550
Ensembl chr 2:201,790,461...201,895,550
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CFLAR
CASP8 and FADD like apoptosis regulator
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:201,116,164...201,176,687
Ensembl chr 2:201,116,154...201,176,687
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CLK1
CDC like kinase 1
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:200,853,009...200,864,658
Ensembl chr 2:200,853,009...200,864,691
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CP
ceruloplasmin
IEP
associated with systemic scleroderma;protein:increased expression:serum
RGD
PMID:32630589
RGD:401827129
NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829
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CREB1
cAMP responsive element binding protein 1
treatment
ISO
RGD
PMID:33760143
RGD:401960860
NCBI chr 2:207,529,962...207,605,988
Ensembl chr 2:207,529,737...207,605,988
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CTLA4
cytotoxic T-lymphocyte associated protein 4
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
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CTNND1
catenin delta 1
IEP
protein:decreased expression:lung
RGD
PMID:25593290
RGD:38500244
NCBI chr11:57,761,802...57,819,540
Ensembl chr11:57,753,243...57,819,546
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CYP20A1
cytochrome P450 family 20 subfamily A member 1
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:203,239,018...203,306,026
Ensembl chr 2:203,238,977...203,306,026
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DDAH1
dimethylarginine dimethylaminohydrolase 1
exacerbates
ISO
compared to wild type
RGD
PMID:31402164
RGD:151347602
NCBI chr 1:85,318,485...85,578,200
Ensembl chr 1:85,318,481...85,578,363
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EIF2AK4
eukaryotic translation initiation factor 2 alpha kinase 4
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868 PMID:28492532 PMID:32581362
NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591
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ENG
endoglin
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease
ClinVar
PMID:10625079 PMID:15517393 PMID:15521985 PMID:15879500 PMID:16705692 PMID:17384219 PMID:17786384 PMID:18498373 PMID:19270816 PMID:21158752 PMID:22991266 PMID:23298310 PMID:23722869 PMID:24033266 PMID:25741868 PMID:25970827 PMID:26167679 PMID:28492532 PMID:29650961 PMID:30029678 PMID:31727138 PMID:32503579 PMID:32514857 PMID:32573726 PMID:32581362 PMID:32933640 PMID:33919892 PMID:34872578 More...
NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773
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FAM117B
family with sequence similarity 117 member B
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:202,634,969...202,769,757
Ensembl chr 2:202,634,969...202,769,757
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FHIT
fragile histidine triad diadenosine triphosphatase
ISO
RGD
PMID:30107138
RGD:329349307
NCBI chr 3:59,747,277...61,251,452
Ensembl chr 3:59,747,277...61,251,459
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FLACC1
flagellum associated containing coiled-coil domains 1
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:201,288,271...201,364,289
Ensembl chr 2:201,288,271...201,357,398
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FTO
FTO alpha-ketoglutarate dependent dioxygenase
ISO
protein:decreased expression:lung
RGD
PMID:34310344
RGD:329845886
NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512
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FZD7
frizzled class receptor 7
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:202,033,855...202,038,441
Ensembl chr 2:202,033,855...202,038,441
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GDF2
growth differentiation factor 2
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868 PMID:26801773 PMID:28492532 PMID:31661308 PMID:31727138
NCBI chr10:47,322,454...47,327,588
Ensembl chr10:47,322,454...47,327,588
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GJB2
gap junction protein beta 2
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:17666888 PMID:25741868 PMID:30755392
NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
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GPX3
glutathione peroxidase 3
IEP
associated with systemic scleroderma;protein:decreased expression:serum
RGD
PMID:32630589
RGD:401827129
NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988
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H19
H19 imprinted maternally expressed transcript
ameliorates treatment
ISO
RGD
PMID:30547791 PMID:30240970
RGD:155882573 , RGD:156430315
NCBI chr11:1,995,176...2,001,266
Ensembl chr11:1,995,165...2,004,552
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HTR1B
5-hydroxytryptamine receptor 1B
IEP
protein:increased expression:endothelium, smooth muscle, pulmonary artery
RGD
PMID:28473438
RGD:329955562
NCBI chr 6:77,460,924...77,463,491
Ensembl chr 6:77,460,924...77,463,491
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HYCC2
hyccin PI4KA lipid kinase complex subunit 2
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:200,973,718...201,071,671
Ensembl chr 2:200,973,718...201,071,671
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HYDIN
HYDIN axonemal central pair apparatus protein
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868
NCBI chr16:70,802,084...71,230,722
Ensembl chr16:70,802,084...71,230,722
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ICA1L
islet cell autoantigen 1 like
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:202,773,176...202,871,766
Ensembl chr 2:202,773,150...202,871,766
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ICOS
inducible T cell costimulator
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577
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IFNG
interferon gamma
treatment
ISO
RGD
PMID:23867624
RGD:329848996
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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IGF1R
insulin like growth factor 1 receptor
treatment
ISO
RGD
PMID:30240970
RGD:156430315
NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
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IL2
interleukin 2
treatment
ISO
RGD
PMID:23867624
RGD:329848996
NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
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IMPA1
inositol monophosphatase 1
ISO
RGD
PMID:30604625
RGD:126781711
NCBI chr 8:81,656,914...81,686,325
Ensembl chr 8:81,656,914...81,686,331
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ITGA5
integrin subunit alpha 5
IEP
mRNA:increased expression:lung
RGD
PMID:25593290
RGD:38500244
NCBI chr12:54,395,261...54,419,266
Ensembl chr12:54,395,261...54,419,266
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KCNA5
potassium voltage-gated channel subfamily A member 5
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:23861362 PMID:25741868 PMID:28492532
NCBI chr12:5,043,879...5,046,788
Ensembl chr12:5,043,879...5,046,788
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KCNK3
potassium two pore domain channel subfamily K member 3
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:26,692,722...26,733,420
Ensembl chr 2:26,692,722...26,733,420
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KCNN4
potassium calcium-activated channel subfamily N member 4
ameliorates
ISO
RGD
PMID:28679649
RGD:329955564
NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976
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KCTD18
potassium channel tetramerization domain containing 18
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:200,488,958...200,510,068
Ensembl chr 2:200,488,958...200,519,784
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LOC129935429
ATAC-STARR-seq lymphoblastoid active region 16999
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:202,375,175...202,375,334
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LOC129935430
ATAC-STARR-seq lymphoblastoid active region 17000
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:202,375,445...202,375,734
G
LOC129935431
ATAC-STARR-seq lymphoblastoid silent region 12241
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:202,375,825...202,375,874
G
LOC129935432
ATAC-STARR-seq lymphoblastoid silent region 12242
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:202,376,025...202,376,514
G
LOC129935433
ATAC-STARR-seq lymphoblastoid silent region 12243
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:202,376,645...202,376,704
G
LOC129935434
ATAC-STARR-seq lymphoblastoid silent region 12244
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:19223935 PMID:25741868 PMID:28492532 PMID:32581362
NCBI chr 2:202,376,775...202,376,834
G
LOC129935435
ATAC-STARR-seq lymphoblastoid active region 17001
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:202,377,675...202,377,744
G
LOC129935436
ATAC-STARR-seq lymphoblastoid silent region 12245
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:202,545,681...202,545,750
G
MAP3K7
mitogen-activated protein kinase kinase kinase 7
treatment
ISO
RGD
PMID:35582418
RGD:155804297
NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086
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MIR140
microRNA 140
severity
IEP
miRNA:decreased expression:blood (human)
RGD
PMID:27214554
RGD:329337371
NCBI chr16:69,933,081...69,933,180
Ensembl chr16:69,933,081...69,933,180
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MIR143
microRNA 143
ameliorates
IEP ISO
RNA:increased expression:pulmonary smooth muscle cell:
RGD
PMID:26311719 PMID:26311719
RGD:11537224 , RGD:11537224
NCBI chr 5:149,428,918...149,429,023
Ensembl chr 5:149,428,918...149,429,023
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MIR17
microRNA 17
severity
IEP
miRNA:increased expression:blood
RGD
PMID:32600075
RGD:329349306
NCBI chr13:91,350,605...91,350,688
Ensembl chr13:91,350,605...91,350,688
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MIR200A
microRNA 200a
treatment
ISO
RGD
PMID:30240970
RGD:156430315
NCBI chr 1:1,167,863...1,167,952
Ensembl chr 1:1,167,863...1,167,952
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MIR221
microRNA 221
ameliorates
IEP ISO
RNA:increased expression:lung,pulmonary artery smooth muscle cell
RGD
PMID:28694128 PMID:28694128 PMID:28694128
RGD:151356920 , RGD:151356920 , RGD:151356920
NCBI chr X:45,746,157...45,746,266
Ensembl chr X:45,746,157...45,746,266
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MIR675
microRNA 675
treatment
ISO
RGD
PMID:30240970
RGD:156430315
NCBI chr11:1,996,759...1,996,831
Ensembl chr11:1,996,759...1,996,831
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MPP4
MAGUK p55 scaffold protein 4
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:201,644,874...201,698,644
Ensembl chr 2:201,644,870...201,698,694
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NBEAL1
neurobeachin like 1
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:203,014,608...203,225,194
Ensembl chr 2:203,014,608...203,226,378
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NDUFB3
NADH:ubiquinone oxidoreductase subunit B3
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:201,072,001...201,085,750
Ensembl chr 2:201,071,433...201,085,750
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NIF3L1
NGG1 interacting factor 3 like 1
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:200,889,327...200,903,932
Ensembl chr 2:200,889,327...200,903,938
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NNMT
nicotinamide N-methyltransferase
ISO
protein:increased activity,altered activity:lung, liver (rat)
RGD
PMID:27581040
RGD:401793717
NCBI chr11:114,257,806...114,313,536
Ensembl chr11:114,257,787...114,313,536
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NOP58
NOP58 ribonucleoprotein
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:202,265,763...202,303,661
Ensembl chr 2:202,265,736...202,303,661
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NOS3
nitric oxide synthase 3
treatment
ISO
RGD
PMID:23867624
RGD:329848996
NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
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NOTCH1
notch receptor 1
IAGP IEP
ClinVar Annotator: match by term: Pulmonary arterial hypertension protein:decreased expression:endothelial cell, nucleus:
ClinVar RGD
PMID:15472075 PMID:16614245 PMID:18593716 PMID:19245433 PMID:19635999 PMID:20951801 PMID:20981092 PMID:21670202 PMID:22077063 PMID:22210878 PMID:22858860 PMID:23086750 PMID:23734977 PMID:24728327 PMID:24943832 PMID:25741868 PMID:26837699 PMID:28387797 PMID:28492532 PMID:29641532 PMID:30059548 PMID:30582441 PMID:35288444 PMID:34739767 More...
RGD:155646132
NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
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NOTCH3
notch receptor 3
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:22006983 PMID:22153900 PMID:22159056 PMID:24086431 PMID:25741868 PMID:26467025 PMID:26894465 PMID:28492532 More...
NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
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ORC2
origin recognition complex subunit 2
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:200,908,977...200,963,660
Ensembl chr 2:200,908,977...200,963,680
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PARK7
Parkinsonism associated deglycase
exacerbates
ISO
RGD
PMID:29069575
RGD:151347449
NCBI chr 1:7,961,711...7,985,505
Ensembl chr 1:7,954,291...7,985,505
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PDCD4
programmed cell death 4
treatment
ISO
RGD
PMID:30240970
RGD:156430315
NCBI chr10:110,871,928...110,900,006
Ensembl chr10:110,871,795...110,900,006
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PHF6
PHD finger protein 6
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868
NCBI chr X:134,373,312...134,428,790
Ensembl chr X:134,373,288...134,428,791
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PMS2
PMS1 homolog 2, mismatch repair system component
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:6144131 PMID:16144131 PMID:16283678 PMID:18602922 PMID:19283792 PMID:20205264 PMID:21239990 PMID:21376568 PMID:22658618 PMID:23012243 PMID:24362816 PMID:25525159 PMID:25637381 PMID:25741868 PMID:26467025 PMID:26895986 PMID:27273229 PMID:28492532 PMID:29489754 PMID:31433215 PMID:33753322 More...
NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130
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PPIL3
peptidylprolyl isomerase like 3
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:200,870,907...200,889,291
Ensembl chr 2:200,870,907...200,889,303
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PTGIS
prostaglandin I2 synthase
treatment susceptibility
IMP IAGP ISO
human gene in a rat model DNA:repeat, SNPs:promoter, intron: , 185C>T, 325C>A ( , rs5582, rs116939356) (human)
RGD
PMID:17635855 PMID:23841984 PMID:24605778 PMID:11034952 PMID:18612919
RGD:401901195 , RGD:401959742 , RGD:401959406 , RGD:401959335 , RGD:401901264
NCBI chr20:49,503,874...49,568,137
Ensembl chr20:49,503,874...49,568,137
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PTPRD
protein tyrosine phosphatase receptor type D
IEP
mRNA:decreased expression:blood, pulmonary artery (human)
RGD
PMID:35848503
RGD:401976433
NCBI chr 9:8,314,246...10,613,002
Ensembl chr 9:8,314,246...10,613,002
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RAPH1
Ras association (RalGDS/AF-6) and pleckstrin homology domains 1
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:203,433,682...203,535,301
Ensembl chr 2:203,394,345...203,535,335
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SELENOP
selenoprotein P
IEP
associated with systemic scleroderma;protein:decreased expression:serum
RGD
PMID:32630589
RGD:401827129
NCBI chr 5:42,799,880...42,811,892
Ensembl chr 5:42,799,880...42,887,392
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SGO2
shugoshin 2
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:200,526,142...200,584,096
Ensembl chr 2:200,510,008...200,584,096
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SMAD4
SMAD family member 4
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25559809 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29684080
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
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SMAD9
SMAD family member 9
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease
ClinVar
PMID:25741868 PMID:28492532 PMID:30029678
NCBI chr13:36,844,831...36,920,854
Ensembl chr13:36,844,831...36,920,887
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SOD2
superoxide dismutase 2
ISO IEP
protein:decreased expression:pulmonary artery protein:decreased expression:small pulmonary artery
RGD
PMID:20529999 PMID:20529999
RGD:27095884 , RGD:27095884
NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
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SOD3
superoxide dismutase 3
exacerbates
ISO
RGD
PMID:21730301
RGD:14369425
NCBI chr 4:24,795,573...24,800,842
Ensembl chr 4:24,789,912...24,800,842
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SOX17
SRY-box transcription factor 17
susceptibility onset
IAGP IEP
ClinVar Annotator: match by term: Pulmonary arterial hypertension DNA:SNPs:enhancers: (rs10103692, rs13266183) (human) DNA:frameshift mutations, missense mutations, SNP:CDS, intron:multiple (human) DNA:nonsense mutation:CDS:p.Q127* (human) protein:decreased expression:lung endothelium (human) associated with congenital heart disease;DNA:mutations:multiple (human)
ClinVar RGD
PMID:30527955 PMID:29650961 PMID:33952808 PMID:36913491 PMID:30029678
RGD:329955464 , RGD:329853735 , RGD:329853326 , RGD:329853317 , RGD:329853313
NCBI chr 8:54,457,935...54,460,892
Ensembl chr 8:54,457,935...54,460,892
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SPATS2L
spermatogenesis associated serine rich 2 like
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:200,305,879...200,482,264
Ensembl chr 2:200,305,881...200,482,264
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STRADB
STE20 related adaptor beta
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:201,451,740...201,480,846
Ensembl chr 2:201,387,858...201,480,846
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SUMO1
small ubiquitin like modifier 1
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
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TBX4
T-box transcription factor 4
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease
ClinVar
PMID:15106123 PMID:16199547 PMID:23592887 PMID:25741868 PMID:28492532 PMID:29120062 PMID:29631995 PMID:29650961 PMID:30004997 PMID:30029678 PMID:30578397 PMID:31151956 PMID:31727138 PMID:31761294 PMID:31965066 PMID:32079640 PMID:32581362 PMID:32860008 PMID:33066286 More...
NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110
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TGFBR1
transforming growth factor beta receptor 1
IEP
mRNA:increased expression:lung
RGD
PMID:25593290
RGD:38500244
NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192
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TMEM237
transmembrane protein 237
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570
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TOPBP1
DNA topoisomerase II binding protein 1
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868
NCBI chr 3:133,600,238...133,661,941
Ensembl chr 3:133,598,175...133,662,380
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TRAK2
trafficking kinesin protein 2
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:201,377,207...201,451,458
Ensembl chr 2:201,377,207...201,451,500
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TRPC4
transient receptor potential cation channel subfamily C member 4
ameliorates
ISO
RGD
PMID:24113457
RGD:150429956
NCBI chr13:37,632,063...37,869,772
Ensembl chr13:37,632,063...37,869,802
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TWIST1
twist family bHLH transcription factor 1
IEP
mRNA, protein:increased expression: pulmonary artery,lung:
RGD
PMID:25593290
RGD:38500244
NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636
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VIM
vimentin
IEP
protein:increased phosphorylation:lung
RGD
PMID:25593290
RGD:38500244
NCBI chr10:17,228,241...17,237,593
Ensembl chr10:17,228,241...17,237,593
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WDR12
WD repeat domain 12
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:202,874,261...202,911,673
Ensembl chr 2:202,874,261...203,014,798
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ACVRL1
activin A receptor like type 1
IAGP
ClinVar Annotator: match by term: PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED
ClinVar
PMID:8640225 PMID:9245985 PMID:10187774 PMID:10767348 PMID:11170071 PMID:11484689 PMID:12114496 PMID:12700602 PMID:12843319 PMID:14684682 PMID:15024723 PMID:15065824 PMID:15375013 PMID:15517393 PMID:15687131 PMID:15712271 PMID:15880681 PMID:16123970 PMID:16282348 PMID:16429404 PMID:16470589 PMID:16470787 PMID:16525724 PMID:16540754 PMID:16542389 PMID:16690726 PMID:16705692 PMID:16706966 PMID:16752392 PMID:16829353 PMID:16861286 PMID:17384219 PMID:17786384 PMID:18159113 PMID:18285823 PMID:18498373 PMID:18673552 PMID:19115559 PMID:19357124 PMID:19767588 PMID:20056902 PMID:20414677 PMID:20501893 PMID:20609011 PMID:21158752 PMID:21378382 PMID:21651515 PMID:22377182 PMID:22553411 PMID:22632830 PMID:22991266 PMID:23124896 PMID:23298310 PMID:23722869 PMID:23805858 PMID:23919827 PMID:24001356 PMID:24196379 PMID:24603890 PMID:25318803 PMID:25326635 PMID:25741868 PMID:25970827 PMID:26176610 PMID:26387786 PMID:27316748 PMID:27587546 PMID:27613157 PMID:27869117 PMID:28492532 PMID:29449337 PMID:29631995 PMID:29650961 PMID:29743074 PMID:30260738 PMID:30303062 PMID:30578383 PMID:31019026 PMID:31400083 PMID:31455059 PMID:31511490 PMID:31630786 PMID:32300199 PMID:32503579 PMID:32573726 PMID:32581362 PMID:33201366 PMID:33919892 PMID:34008892 PMID:34872578 PMID:36993588 More...
NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361
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AL162586.1
novel transcript
IAGP
ClinVar Annotator: match by term: PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED
ClinVar
PMID:14684682 PMID:15024723 PMID:15115879 PMID:15687131 PMID:15879500 PMID:18156574 PMID:20656886 PMID:22385575 PMID:25741868 PMID:28492532 PMID:32573726 More...
NCBI chr 9:127,816,066...127,822,520
Ensembl chr 9:127,816,066...127,822,520
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ENG
endoglin
IAGP
ClinVar Annotator: match by term: PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED
ClinVar
PMID:14684682 PMID:15024723 PMID:15115879 PMID:15687131 PMID:15879500 PMID:18156574 PMID:20656886 PMID:22385575 PMID:23919827 PMID:25741868 PMID:28492532 PMID:32573726 More...
NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773
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DNM1L
dynamin 1 like
ISO
mRNA:increased expression:lung (rat)
RGD
PMID:23517027
RGD:12738217
NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650
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FIS1
fission, mitochondrial 1
ISO
mRNA:increased expression:lung (rat)
RGD
PMID:23517027
RGD:12738217
NCBI chr 7:101,239,472...101,245,081
Ensembl chr 7:101,239,458...101,252,316
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GUCY1A1
guanylate cyclase 1 soluble subunit alpha 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25373139
NCBI chr 4:155,666,848...155,737,059
Ensembl chr 4:155,666,726...155,737,059
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HMOX1
heme oxygenase 1
ISO
protein:increased expression:lung
RGD
PMID:21296072
RGD:10755745
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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MFN2
mitofusin 2
ISO
mRNA:decreased expression:lung (rat)
RGD
PMID:23517027
RGD:12738217
NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
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ABCA3
ATP binding cassette subfamily A member 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26780485
NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
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ACE
angiotensin I converting enzyme
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12359135
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
EXP IMP
CTD Direct Evidence: therapeutic human protein in a rat model
CTD RGD
PMID:31931441 PMID:25225206
RGD:40818280
NCBI chr X:15,518,197...15,607,211
Ensembl chr X:15,494,566...15,607,236
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ACVRL1
activin A receptor like type 1
susceptibility disease_progression
IAGP EXP ISO
associated with hereditary haemorrhagic telangiectasia;DNA:missense mutations CTD Direct Evidence: marker/mechanism DNA:mutations (human) mRNA:increased expression:lung
CTD RGD
PMID:26540443 PMID:14684682 PMID:20056902 PMID:17392319
RGD:1601117 , RGD:5128837 , RGD:1601116
NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361
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ADH5
alcohol dehydrogenase 5 (class III), chi polypeptide
ISO
RGD
PMID:20431245
RGD:5128886
NCBI chr 4:99,070,978...99,088,788
Ensembl chr 4:99,070,978...99,088,801
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ADIPOQ
adiponectin, C1Q and collagen domain containing
ISO
RGD
PMID:19168697
RGD:5686821
NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
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ADM
adrenomedullin
IDA
RGD
PMID:14718403
RGD:1625305
NCBI chr11:10,305,073...10,307,397
Ensembl chr11:10,305,073...10,307,397
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AGER
advanced glycosylation end-product specific receptor
IEP
protein:increased expression:lung (human)
RGD
PMID:21041689
RGD:7244258
NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
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AGT
angiotensinogen
ISO
RGD
PMID:21381494
RGD:5129162
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
onset
IAGP
DNA:polymorphism:3' utr:1166A>C (human)
RGD
PMID:19332265
RGD:5147450
NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008
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AHR
aryl hydrocarbon receptor
ameliorates
ISO
6-formylindolo[3,2-b]carbazole (FICZ)|semaxanib (CHEBI:91083) compared to wild type littermates
RGD
PMID:33836606 PMID:33836606
RGD:401940192 , RGD:401940192
NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152
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ALAS1
5'-aminolevulinate synthase 1
ISO
mRNA:increased expression:lung (rat)
RGD
PMID:16181105
RGD:4144185
NCBI chr 3:52,198,083...52,214,327
Ensembl chr 3:52,198,086...52,214,327
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ALOX5
arachidonate 5-lipoxygenase
treatment
IEP IGI ISO EXP
protein:increased expression:artery CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:14726295 PMID:9445303 PMID:31462075 PMID:31462075 PMID:31462075 PMID:31462075 PMID:8647941 PMID:14726295 More...
RGD:1626154 , RGD:14975304 , RGD:14975304 , RGD:14975304 , RGD:14975304 , RGD:734558 , RGD:4890418
NCBI chr10:45,374,216...45,446,117
Ensembl chr10:45,374,176...45,446,119
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ALOX5AP
arachidonate 5-lipoxygenase activating protein
IEP ISO
protein:increased expression:artery
RGD
PMID:9445303 PMID:8647941
RGD:1626154 , RGD:734558
NCBI chr13:30,713,485...30,764,426
Ensembl chr13:30,713,478...30,764,426
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ANGPT1
angiopoietin 1
ISO
protein:decreased expression:pulmonary artery
RGD
PMID:18073453
RGD:2316069
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
ISO
protein:increased expression:pulmonary artery (rat)
RGD
PMID:19712575
RGD:2314185
NCBI chr 8:6,499,632...6,563,245
Ensembl chr 8:6,499,632...6,563,409
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APLN
apelin
IEP
protein:decreased expression:plasma
RGD
PMID:16263185
RGD:1626175
NCBI chr X:129,645,259...129,654,956
Ensembl chr X:129,645,259...129,654,956
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ARG2
arginase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24951775
NCBI chr14:67,619,920...67,651,708
Ensembl chr14:67,619,920...67,651,708
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ATP2A2
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
treatment
ISO IDA
RGD
PMID:27144451 PMID:23804254
RGD:13782086 , RGD:13782089
NCBI chr12:110,280,616...110,351,093
Ensembl chr12:110,280,756...110,351,093
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ATP5F1A
ATP synthase F1 subunit alpha
treatment
ISO
chronic thromboembolic pulmonary hypertension
RGD
PMID:21396162
RGD:13703061
NCBI chr18:46,080,248...46,104,227
Ensembl chr18:46,080,248...46,104,334
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ATP5PF
ATP synthase peripheral stalk subunit F6
treatment
ISO
mRNA, protein:increased expression:lung, plasma (rat)
RGD
PMID:27916219 PMID:27491388
RGD:13800892 , RGD:13800894
NCBI chr21:25,724,500...25,735,653
Ensembl chr21:25,716,503...25,735,673
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ATP7A
ATPase copper transporting alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24614111
NCBI chr X:77,910,693...78,050,395
Ensembl chr X:77,910,690...78,050,395
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BCL2
BCL2 apoptosis regulator
ISO
protein:decreased expression:heart right ventricle
RGD
PMID:18441466
RGD:2293022
NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
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BCL2L1
BCL2 like 1
treatment
ISO
RGD
PMID:22559233
RGD:10400914
NCBI chr20:31,664,452...31,723,963
Ensembl chr20:31,664,452...31,723,989
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BDKRB2
bradykinin receptor B2
ISO
RGD
PMID:15878794
RGD:4890453
NCBI chr14:96,204,839...96,244,164
Ensembl chr14:96,204,679...96,244,166
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BIRC5
baculoviral IAP repeat containing 5
IEP ISO
protein:increased expression:pulmonary artery
RGD
PMID:15931388 PMID:15931388
RGD:2293135 , RGD:2293135
NCBI chr17:78,214,253...78,225,635
Ensembl chr17:78,214,186...78,225,636
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BMPR1A
bone morphogenetic protein receptor type 1A
IEP
RGD
PMID:19324947
RGD:5129472
NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825
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BMPR1B
bone morphogenetic protein receptor type 1B
IEP
RGD
PMID:19324947
RGD:5129472
NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
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BMPR2
bone morphogenetic protein receptor type 2
disease_progression treatment
IAGP ISO IDA EXP IEP
DNA:missense mutations (human) induced by human ad-ALOX5 protein:decreased expression:lung CTD Direct Evidence: marker/mechanism DNA:mutations: :multiple (human)
CTD RGD
PMID:11590841 PMID:11893684 PMID:12358323 PMID:16297860 PMID:20496075 PMID:20522807 PMID:23383100 PMID:23502781 PMID:24224048 PMID:19785764 PMID:31462075 PMID:21737550 PMID:25593290 PMID:18663089 PMID:19324947 PMID:15775752 PMID:20002458 PMID:20534176 More...
RGD:5129239 , RGD:14975304 , RGD:38500243 , RGD:38500244 , RGD:5129474 , RGD:5129472 , RGD:1580076 , RGD:5129238 , RGD:5129237
NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751
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BRD4
bromodomain containing 4
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:26224795
NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545
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CA9
carbonic anhydrase 9
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20110409
NCBI chr 9:35,673,928...35,681,159
Ensembl chr 9:35,673,928...35,681,159
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CALCA
calcitonin related polypeptide alpha
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:1357980
NCBI chr11:14,966,668...14,972,351
Ensembl chr11:14,966,622...14,972,354
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CASR
calcium sensing receptor
ISO
protein:increased expression:pulmonary artery (rat)
RGD
PMID:22730443
RGD:7205669
NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629
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CAV1
caveolin 1
treatment
IEP ISO
idiopathic pulmonary arterial hypertension (IPAH)
RGD
PMID:17470567 PMID:23538027 PMID:15353500
RGD:1625360 , RGD:8662276 , RGD:1581153
NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
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CAVIN1
caveolae associated protein 1
ISS
OMIM:615371
MouseDO
NCBI chr17:42,402,449...42,423,256
Ensembl chr17:42,402,449...42,423,256
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CBLN2
cerebellin 2 precursor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23502781
NCBI chr18:72,536,681...72,638,521
Ensembl chr18:72,536,680...72,638,521
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CCL1
C-C motif chemokine ligand 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22507635
NCBI chr17:34,360,328...34,363,233
Ensembl chr17:34,360,328...34,363,233
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CCL2
C-C motif chemokine ligand 2
ISO EXP
protein:increased expression:lung, plasma CTD Direct Evidence: marker/mechanism protein:increased expression:bronchoalveolar lavage fluid (rat)
CTD RGD
PMID:15302794 PMID:30418988 PMID:19087668 PMID:9605182
RGD:2307003 , RGD:8549547
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
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CCL5
C-C motif chemokine ligand 5
IEP
protein:increased secretion:serum (human)
RGD
PMID:19932032
RGD:4891440
NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
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CCN2
cellular communication network factor 2
ISO
protein:increased expression:pulmonary artery (rat)
RGD
PMID:19234054
RGD:2314535
NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
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CD209
CD209 molecule
IEP
RGD
PMID:17107989
RGD:5131187
NCBI chr19:7,739,993...7,747,534
Ensembl chr19:7,739,993...7,747,564
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CD28
CD28 molecule
IEP
RGD
PMID:19075187
RGD:5131619
NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,517...203,739,756
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CD40
CD40 molecule
treatment
ISO
RGD
PMID:25998782
RGD:11344970
NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
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CD40LG
CD40 ligand
ISO EXP
protein:increased expression:serum (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15302794 PMID:25998782
RGD:11344970
NCBI chr X:136,648,158...136,660,390
Ensembl chr X:136,648,158...136,660,390
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CD86
CD86 molecule
IEP
protein:decreased expression:blood, myeloid dendritic cell (human)
RGD
PMID:19693657
RGD:4892293
NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139
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CDH5
cadherin 5
ISO
protein:decreased expression:lung
RGD
PMID:25593290
RGD:38500244
NCBI chr16:66,366,691...66,404,784
Ensembl chr16:66,366,690...66,404,784
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CDKN1A
cyclin dependent kinase inhibitor 1A
treatment
ISO
RGD
PMID:24334871 PMID:24412385
RGD:10043360 , RGD:10043361
NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
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CDKN1B
cyclin dependent kinase inhibitor 1B
treatment
ISO
RGD
PMID:22383500
RGD:10045357
NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
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CLU
clusterin
ISO
RGD
PMID:25069740
RGD:9068424
NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
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COL1A1
collagen type I alpha 1 chain
treatment
ISO
RGD
PMID:25867313
RGD:11041577
NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
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COL4A1
collagen type IV alpha 1 chain
treatment
ISO
RGD
PMID:25867313
RGD:11041577
NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202
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CRP
C-reactive protein
IEP
associated with Pulmonary Disease, Chronic Obstructive
RGD
PMID:22333502
RGD:6482312
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
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CSF3
colony stimulating factor 3
treatment
IDA
RGD
PMID:17186992 PMID:12524378
RGD:11039432 , RGD:11039539
NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
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CTNND1
catenin delta 1
treatment
ISO
RGD
PMID:25593290
RGD:38500244
NCBI chr11:57,761,802...57,819,540
Ensembl chr11:57,753,243...57,819,546
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CX3CL1
C-X3-C motif chemokine ligand 1
ISO IEP
mRNA, protein:increased expression:lung associated with Heart Defects, Congenital
RGD
PMID:18630689 PMID:19948918 PMID:20869263
RGD:4891889 , RGD:4891887 , RGD:4891883
NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044
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CX3CR1
C-X3-C motif chemokine receptor 1
ISO IAGP
mRNA, protein:increased expression:lung associated with Scleroderma, Systemic;DNA:polymorphisms: :p.V249I, p.T280M (human)
RGD
PMID:17182651 PMID:16584113
RGD:4891893 , RGD:4891896
NCBI chr 3:39,263,494...39,292,966
Ensembl chr 3:39,263,495...39,281,735
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CXCL8
C-X-C motif chemokine ligand 8
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15302794
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
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CXCR4
C-X-C motif chemokine receptor 4
treatment
ISO
RGD
PMID:21294880
RGD:6480473
NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177
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CYBA
cytochrome b-245 alpha chain
ISO
associated with Anoxia;mRNA, protein:increased expression:lung
RGD
PMID:18424632 PMID:18952568
RGD:4773907 , RGD:4762683
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
treatment
ISO
associated with Anoxia
RGD
PMID:18952568 PMID:18424632
RGD:4762683 , RGD:4773907
NCBI chr X:37,780,059...37,813,461
Ensembl chr X:37,780,018...37,813,461
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CYP1A1
cytochrome P450 family 1 subfamily A member 1
ISO
mRNA,protein:increased expression:lung
RGD
PMID:28956952
RGD:13702097
NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536
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CYP2J2
cytochrome P450 family 2 subfamily J member 2
IDA
RGD
PMID:20118222
RGD:7243137
NCBI chr 1:59,893,308...59,969,212
Ensembl chr 1:59,893,308...59,926,773
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CYSLTR1
cysteinyl leukotriene receptor 1
ISO
associated with Anoxia
RGD
PMID:12910720
RGD:4848274
NCBI chr X:78,271,468...78,327,611
Ensembl chr X:78,271,468...78,327,691
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DLL4
delta like canonical Notch ligand 4
ISO
RGD
PMID:34739767
RGD:155646132
NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073
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ECE1
endothelin converting enzyme 1
ISO
associated with Anoxia;
RGD
PMID:18767389
RGD:7243939
NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572
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EDN1
endothelin 1
IEP EXP ISO
associated with Pulmonary Disease, Chronic Obstructive; protein:increased secretion:plasma (human) CTD Direct Evidence: marker/mechanism mRNA:increased expression:lung (rat) Hypertension, Portopulmonary; protein:increased secretion:plasma (human) Hypertension, Heritable Pulmonary Artery; mRNA:increased expression:bone marrow, macrophage (mouse)
CTD RGD
PMID:7549228 PMID:9918753 PMID:12391278 PMID:20929026 PMID:20967148 PMID:20890431 PMID:20889845 PMID:20498147 PMID:20562228 More...
RGD:4144865 , RGD:4144128 , RGD:4144882 , RGD:4144877
NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
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EDN2
endothelin 2
IEP
RGD
PMID:10598486
RGD:1580918
NCBI chr 1:41,478,775...41,484,683
Ensembl chr 1:41,478,775...41,484,683
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EDNRA
endothelin receptor type A
ISO IMP IEP
RGD
PMID:20531217 PMID:15243299 PMID:18506008 PMID:20562228
RGD:4892283 , RGD:1580949 , RGD:4892320 , RGD:4144877
NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954
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EDNRB
endothelin receptor type B
IEP EXP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15927975 PMID:20562228 PMID:15243299 PMID:18091567
RGD:4144877 , RGD:1580949 , RGD:4892289
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 IEP
protein:increased expression:lung, arteriole (human)
RGD
PMID:12896876 PMID:21492463
RGD:5131639 , RGD:5131626
NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
G
EGR1
early growth response 1
ISO IEP
protein:increased expression:lung (human) mRNA, protein:increased expression:lung (rat) mRNA, protein:increased expression:lung (mouse)
RGD
PMID:20889906 PMID:21924231 PMID:20889906 PMID:20023177 PMID:18599502
RGD:5131875 , RGD:10395308 , RGD:5131875 , RGD:5131883 , RGD:5131890
NCBI chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303
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EIF2AK4
eukaryotic translation initiation factor 2 alpha kinase 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24292273
NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591
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ENG
endoglin
ISO
RGD
PMID:20042709
RGD:11041178
NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773
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EPAS1
endothelial PAS domain protein 1
ISO IAGP
DNA:missense mutation:cds: 2097G>A,p.G537R(human)
RGD
PMID:16215633 PMID:18650473
RGD:10395375 , RGD:11041573
NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697
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EPHX2
epoxide hydrolase 2
ISO
RGD
PMID:19226702
RGD:5688731
NCBI chr 8:27,491,143...27,548,626
Ensembl chr 8:27,490,781...27,545,564
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EPO
erythropoietin
treatment
IDA
RGD
PMID:22559233
RGD:10400914
NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
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ESR1
estrogen receptor 1
IEP
RGD
PMID:20081107
RGD:4892253
NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619
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ESR2
estrogen receptor 2
ISO
RGD
PMID:21700911
RGD:5508791
NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112
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F5
coagulation factor V
IAGP
Chronic thromboembolic pulmonary hypertension (CTEPH)
RGD
PMID:20182352
RGD:4892669
NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588
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FBLN5
fibulin 5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12189163
NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987
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FGF2
fibroblast growth factor 2
ISO IEP
mRNA:increased expression:lung
RGD
PMID:19197140 PMID:19197140
RGD:2315911 , RGD:2315911
NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...122,898,236
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FGFR1
fibroblast growth factor receptor 1
ISO
RGD
PMID:19197140
RGD:2315911
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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FOXO1
forkhead box O1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27663689
NCBI chr13:40,555,667...40,666,641
Ensembl chr13:40,555,667...40,666,641
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GATA4
GATA binding protein 4
ISO
protein:increased expression:heart right ventricle
RGD
PMID:21059997
RGD:7207053
NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
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GATA6
GATA binding protein 6
ISO IEP
mRNA, protein:decreased expression:lung protein:decreased expression:lung, arteriole, venule (human)
RGD
PMID:19842842 PMID:23583651 PMID:23583651
RGD:2314194 , RGD:13208869 , RGD:13208869
NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
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GBA1
glucosylceramidase beta 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12359135
NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
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GDF2
growth differentiation factor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26801773
NCBI chr10:47,322,454...47,327,588
Ensembl chr10:47,322,454...47,327,588
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GJA1
gap junction protein alpha 1
treatment
ISO
mRNA:increased expression:pulmonary artery
RGD
PMID:21414209 PMID:23321332
RGD:7207411 , RGD:8662411
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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GPR182
G protein-coupled receptor 182
ISO
mRNA:increased expression:lung
RGD
PMID:12622928
RGD:1625768
NCBI chr12:56,994,492...56,998,877
Ensembl chr12:56,994,492...56,998,447
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HAS1
hyaluronan synthase 1
ISO
RGD
PMID:19915162
RGD:9588633
NCBI chr19:51,713,112...51,723,991
Ensembl chr19:51,713,112...51,723,991
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HAS2
hyaluronan synthase 2
ISO
mRNA:increased expression:lung
RGD
PMID:19915162
RGD:9588633
NCBI chr 8:121,612,116...121,641,440
Ensembl chr 8:121,612,116...121,641,440
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HAS3
hyaluronan synthase 3
ISO
mRNA:decreased expression:lung
RGD
PMID:19915162
RGD:9588633
NCBI chr16:69,083,484...69,118,719
Ensembl chr16:69,105,653...69,118,719
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HDAC1
histone deacetylase 1
IEP ISO
protein:increased expression:lung:
RGD
PMID:22711276 PMID:22711276
RGD:9590133 , RGD:9590133
NCBI chr 1:32,292,083...32,333,626
Ensembl chr 1:32,292,083...32,333,635
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HDAC2
histone deacetylase 2
IEP
protein:decreased expression:lung:
RGD
PMID:22711276
RGD:9590133
NCBI chr 6:113,933,028...113,971,148
Ensembl chr 6:113,933,028...114,011,308
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HDAC3
histone deacetylase 3
IEP
protein:decreased expression:lung:
RGD
PMID:22711276
RGD:9590133
NCBI chr 5:141,620,881...141,636,849
Ensembl chr 5:141,620,876...141,636,849
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HDAC4
histone deacetylase 4
IEP
protein:increased expression:lung:
RGD
PMID:22711276
RGD:9590133
NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654
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HDAC5
histone deacetylase 5
IEP ISO
protein:increased expression:lung:
RGD
PMID:22711276 PMID:22711276
RGD:9590133 , RGD:9590133
NCBI chr17:44,076,753...44,123,641
Ensembl chr17:44,076,746...44,123,702
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HEY1
hes related family bHLH transcription factor with YRPW motif 1
ISO
mRNA:decreased expression:lung:
RGD
PMID:34739767
RGD:155646132
NCBI chr 8:79,764,010...79,767,767
Ensembl chr 8:79,762,371...79,767,857
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HIF1A
hypoxia inducible factor 1 subunit alpha
ISO EXP
associated with Anoxia;protein:increased expression:pulmonary artery CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20110409 PMID:17213961 PMID:16215633
RGD:1601553 , RGD:10395375
NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
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HIF3A
hypoxia inducible factor 3 subunit alpha
ISO
RGD
PMID:16215633
RGD:10395375
NCBI chr19:46,297,042...46,343,433
Ensembl chr19:46,297,042...46,343,433
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HK1
hexokinase 1
ISO
mRNA:increased expression:lung
RGD
PMID:25767292
RGD:11353880
NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884
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HMGB1
high mobility group box 1
treatment
ISO
RGD
PMID:25032709
RGD:10402082
NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597
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HMGCR
3-hydroxy-3-methylglutaryl-CoA reductase
ISO
RGD
PMID:12750068
RGD:5508701
NCBI chr 5:75,336,529...75,362,116
Ensembl chr 5:75,336,329...75,364,001
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HMOX1
heme oxygenase 1
ISO IDA
RGD
PMID:14970910 PMID:20957739 PMID:19409105 PMID:20957739
RGD:1582715 , RGD:4145325 , RGD:4145307 , RGD:4145325
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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HP
haptoglobin
treatment
IEP IDA
protein:decreased expression:serum
RGD
PMID:2043024 PMID:25656991 PMID:19023114 PMID:19703762
RGD:1626353 , RGD:11041794 , RGD:5147440 , RGD:5147420
NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
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HPGD
15-hydroxyprostaglandin dehydrogenase
IEP
mRNA, protein:increased expression:lung
RGD
PMID:24657469
RGD:11667099
NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154
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HTR1B
5-hydroxytryptamine receptor 1B
ameliorates
ISO
RGD
PMID:28473438
RGD:329955562
NCBI chr 6:77,460,924...77,463,491
Ensembl chr 6:77,460,924...77,463,491
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HTR2B
5-hydroxytryptamine receptor 2B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:14659797
NCBI chr 2:231,108,230...231,125,042
Ensembl chr 2:231,108,230...231,125,042
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HYAL1
hyaluronidase 1
ISO
mRNA:decreased expression:lung
RGD
PMID:19915162
RGD:9588633
NCBI chr 3:50,299,893...50,312,381
Ensembl chr 3:50,299,890...50,312,381
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HYAL2
hyaluronidase 2
ISO
mRNA:decreased expression:lung
RGD
PMID:19915162
RGD:9588633
NCBI chr 3:50,317,808...50,322,745
Ensembl chr 3:50,317,790...50,322,782
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ICAM1
intercellular adhesion molecule 1
IEP
associated with Heart Defects, Congenital;protein:increased secretion:serum (human)
RGD
PMID:21034646
RGD:4145436
NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
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ID1
inhibitor of DNA binding 1
ISO
RGD
PMID:20522807
RGD:9686087
NCBI chr20:31,605,289...31,606,510
Ensembl chr20:31,573,014...31,606,515
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IFNGR1
interferon gamma receptor 1
IEP
mRNA: increased expression
RGD
PMID:20808962
RGD:4892610
NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449
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IL10
interleukin 10
disease_progression
IEP
protein:increased expression:serum
RGD
PMID:20713898
RGD:4142530
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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IL13
interleukin 13
IEP
associated with sclerosis; protein:increased expression:plasma (human) associated with Scleroderma, Limited;protein:increased expression:plasma
RGD
PMID:19799786 PMID:21425123
RGD:4145600 , RGD:8549528
NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
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IL13RA1
interleukin 13 receptor subunit alpha 1
ISO IEP
RGD
PMID:20671265 PMID:20808962
RGD:4892611 , RGD:4892610
NCBI chr X:118,727,606...118,805,228
Ensembl chr X:118,727,133...118,794,535
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IL13RA2
interleukin 13 receptor subunit alpha 2
IEP
mRNA:increased expression:lung
RGD
PMID:20522789
RGD:4892612
NCBI chr X:115,003,982...115,017,616
Ensembl chr X:115,003,975...115,019,977
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IL18
interleukin 18
ISO
RGD
PMID:17400729
RGD:4889590
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096
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IL1B
interleukin 1 beta
IEP
associated with Scleroderma, Limited;protein:increased expression:serum
RGD
PMID:20808962 PMID:20713898
RGD:4892610 , RGD:4142530
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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IL1RN
interleukin 1 receptor antagonist
IDA
RGD
PMID:7946395
RGD:4143197
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
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IL23R
interleukin 23 receptor
IAGP
associated with Scleroderma, Systemic;DNA:SNPs: :rs11209026, rs11465804 (human)
RGD
PMID:19918037
RGD:5096624
NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979
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IL4
interleukin 4
ISO
RGD
PMID:20889544
RGD:5128515
NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
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IL6
interleukin 6
disease_progression ameliorates
IEP ISO
RGD
PMID:20713898 PMID:38602915 PMID:20693255
RGD:4142530 , RGD:407450417 , RGD:4143246
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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KCNA5
potassium voltage-gated channel subfamily A member 5
IAGP EXP ISO IEP
DNA:SNPs:promoter, cds CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:27522126 PMID:17267549 PMID:20303989 PMID:17596340
RGD:1627654 , RGD:7242752 , RGD:1627651
NCBI chr12:5,043,879...5,046,788
Ensembl chr12:5,043,879...5,046,788
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KCNK3
potassium two pore domain channel subfamily K member 3
severity
EXP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:30365877 PMID:31347976
RGD:151347452
NCBI chr 2:26,692,722...26,733,420
Ensembl chr 2:26,692,722...26,733,420
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KCNMA1
potassium calcium-activated channel subfamily M alpha 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28090300
NCBI chr10:76,869,602...77,637,808
Ensembl chr10:76,869,601...77,638,369
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KDM5B
lysine demethylase 5B
ISO
associated with Hypoxia;protein:increased expression:pulmonary artery,smooth muscle tissue (mouse)
RGD
PMID:30172777
RGD:329955443
NCBI chr 1:202,724,495...202,808,421
Ensembl chr 1:202,724,495...202,808,487
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LCN2
lipocalin 2
ISO IEP
mRNA,protein:increased expression:lung associated with congenital heart disease; protein:increased expression:plasma
RGD
PMID:25076856 PMID:25076856
RGD:126781744 , RGD:126781744
NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
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LEPR
leptin receptor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:30689673
NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
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LOX
lysyl oxidase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24614111
NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413
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MAPK1
mitogen-activated protein kinase 1
treatment
IDA
RGD
PMID:25907942
RGD:13800893
NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
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MAPK3
mitogen-activated protein kinase 3
treatment
IDA
RGD
PMID:25907942
RGD:13800893
NCBI chr16:30,114,105...30,123,220
Ensembl chr16:30,114,105...30,123,506
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MFN1
mitofusin 1
ISO
protein:decreased expression:heart right ventricle (rat)
RGD
PMID:27422986
RGD:12910832
NCBI chr 3:179,347,709...179,394,936
Ensembl chr 3:179,347,709...179,394,936
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MIF
macrophage migration inhibitory factor
IEP
associated with sclerodema, systemic; protein:increased expression:serum
RGD
PMID:18618071
RGD:4891006
NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
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MIR125A
microRNA 125a
treatment
ISO
RGD
PMID:29700287
RGD:26884455
NCBI chr19:51,693,254...51,693,339
Ensembl chr19:51,693,254...51,693,339
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MIR145
microRNA 145
ISO
mRNA:decreased expression:pulmonary artery (rat)
RGD
PMID:35369850
RGD:155230820
NCBI chr 5:149,430,646...149,430,733
Ensembl chr 5:149,430,646...149,430,733
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MIR204
microRNA 204
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26224795
NCBI chr 9:70,809,975...70,810,084
Ensembl chr 9:70,809,975...70,810,084
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MIR21
microRNA 21
ISO
RNA:increased expression:lung
RGD
PMID:32402408
RGD:41410883
NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
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MIR223
microRNA 223
treatment
ISO IEP
associated with Chronic Intermittent Hypoxia RNA:decreased expression:lung, pulmonary aorta, pulmonary aorta smooth muscle
RGD
PMID:30246291 PMID:30507047 PMID:26084306 PMID:26084306
RGD:25823198 , RGD:25824849 , RGD:25824847 , RGD:25824847
NCBI chr X:66,018,870...66,018,979
Ensembl chr X:66,018,870...66,018,979
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MMP1
matrix metallopeptidase 1
ISO
RGD
PMID:23087098
RGD:7207217
NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
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MMP9
matrix metallopeptidase 9
severity
IMP ISO IEP
associated with Heart Failure, Congestive;protein:decreased expression:monocyte associated with Pulmonary Embolism;protein:increased expression:lung, plasma
RGD
PMID:21063214 PMID:23087098 PMID:16867026 PMID:17133179 PMID:18355767
RGD:5129210 , RGD:7207217 , RGD:1642028 , RGD:1642053 , RGD:5130155
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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MTOR
mechanistic target of rapamycin kinase
ISO
RGD
PMID:23470622
RGD:10041039
NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
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MYC
MYC proto-oncogene, bHLH transcription factor
treatment
ISO
RGD
PMID:22306243
RGD:7240564
NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
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NAMPT
nicotinamide phosphoribosyltransferase
susceptibility
IEP ISO
mRNA,protein:increased expression:lung,pulmonary arterial endothelial cell: protein:increased expression:lung:
RGD
PMID:28202489 PMID:28202489 PMID:28202489
RGD:13781882 , RGD:13781882 , RGD:13781882
NCBI chr 7:106,248,298...106,285,888
Ensembl chr 7:106,248,298...106,285,966
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NFATC2
nuclear factor of activated T cells 2
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:27522126 PMID:17596340
RGD:1627651
NCBI chr20:51,386,963...51,562,839
Ensembl chr20:51,386,957...51,562,831
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NOS2
nitric oxide synthase 2
onset
IEP ISO IAGP
associated with heart disease; protein:increased expression:endothelial cell associated with Anoxia; protein:increased expression:pulmonary artery associated with Congenital diaphragmatic hernia; protein:decreased expression:pulmonary artery, endothelium associated with Scleroderma, Systemic; DNA:repeats, SNPs:promoter:(CCTTT), c.-1026C>T, c.-277A>G (human) associated with Anoxia; mouse gene in rat model
RGD
PMID:19912632 PMID:16113050 PMID:16456243 PMID:16813666 PMID:11104748
RGD:5132602 , RGD:1580936 , RGD:1580940 , RGD:4891462 , RGD:4891468
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
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NOS3
nitric oxide synthase 3
treatment susceptibility
IEP EXP ISO IAGP
associated with heart disease; protein:increased expression:endothelial cell CTD Direct Evidence: marker/mechanism associated with Beta-Thalassemia;DNA:repeats:intron: mRNA, protein:increased expression:pulmonary endothelial cell RNA:increased expression:lung DNA:polymorphism:cds:p.E298D (human) associated with chronic obstructive pulmonary disease; DNA:polymorphism:cds:p.G894T (human) protein:increased expression:arteriole
CTD RGD
PMID:21144100 PMID:19912632 PMID:29151278 PMID:25699607 PMID:20724942 PMID:11686901 PMID:21144100 PMID:19487814 PMID:18953956 PMID:17065228 PMID:20215577 PMID:21111729 More...
RGD:5132602 , RGD:13504742 , RGD:11533642 , RGD:4892004 , RGD:5132631 , RGD:4892009 , RGD:4892039 , RGD:4892042 , RGD:4892043 , RGD:4892038 , RGD:4892010
NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
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NOTCH1
notch receptor 1
ameliorates
ISO
RGD
PMID:34739767
RGD:155646132
NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
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NOX1
NADPH oxidase 1
treatment ameliorates
ISO
mRNA,protein:increased expression:lung
RGD
PMID:24233492 PMID:23706097 PMID:27401289 PMID:24233492
RGD:329955359 , RGD:329955579 , RGD:329955361 , RGD:329955359
NCBI chr X:100,843,324...100,874,359
Ensembl chr X:100,843,324...100,874,359
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NOX4
NADPH oxidase 4
ISO
associated with Anoxia;mRNA, protein:increased expression:lung
RGD
PMID:18952568
RGD:4762683
NCBI chr11:89,324,353...89,589,557
Ensembl chr11:89,324,353...89,498,187
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NPPA
natriuretic peptide A
ISO
RGD
PMID:2136863
RGD:7247720
NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345
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NPPB
natriuretic peptide B
severity
IEP EXP ISO
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20408845 PMID:21351102 PMID:16893710 PMID:16936438
RGD:1642205 , RGD:1642203
NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945
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PDE3A
phosphodiesterase 3A
ISO
mRNA:increased expression:pulmonary artery
RGD
PMID:12466227
RGD:1582528
NCBI chr12:20,368,537...20,688,583
Ensembl chr12:20,368,537...20,688,583
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PDE5A
phosphodiesterase 5A
ISO
RGD
PMID:19881228
RGD:2314460
NCBI chr 4:119,494,403...119,628,804
Ensembl chr 4:119,494,397...119,628,804
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PDGFA
platelet derived growth factor subunit A
ISO
RGD
PMID:8447423
RGD:1580847
NCBI chr 7:497,258...520,700
Ensembl chr 7:497,258...520,296
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PDGFB
platelet derived growth factor subunit B
ISO IEP
RGD
PMID:8447423 PMID:21819559 PMID:22523431
RGD:1580847 , RGD:6482859 , RGD:6482831
NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
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PDIA3
protein disulfide isomerase family A member 3
ISO
protein:increased expression:lung:
RGD
PMID:23315792
RGD:9999167
NCBI chr15:43,746,438...43,773,278
Ensembl chr15:43,746,394...43,773,279
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PECAM1
platelet and endothelial cell adhesion molecule 1
treatment
ISO
RGD
PMID:22559233
RGD:10400914
NCBI chr17:64,319,415...64,390,860
Ensembl chr17:64,319,415...64,413,776
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PGF
placental growth factor
IEP
associated with Anemia, Sickle Cell;protein:increased expression:plasma associated with Heart Defects, Congenital
RGD
PMID:20040765 PMID:20195855
RGD:6483588 , RGD:6483610
NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626
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PRKG1
protein kinase cGMP-dependent 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21351102
NCBI chr10:50,990,888...52,298,350
Ensembl chr10:50,990,888...52,298,423
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PTGIS
prostaglandin I2 synthase
treatment susceptibility
ISO IEP IMP
protein:decreased expression:pulmonary artery (human) human gene in a rat model rat gene in a mouse model
RGD
PMID:15684702 PMID:32673988 PMID:12019369 PMID:10359560
RGD:1580695 , RGD:401960100 , RGD:401959405 , RGD:727270
NCBI chr20:49,503,874...49,568,137
Ensembl chr20:49,503,874...49,568,137
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
anoxia associated;
RGD
PMID:18542928 PMID:19577709
RGD:2300276 , RGD:5135495
NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
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PTK2
protein tyrosine kinase 2
IAGP
RGD
PMID:16244766
RGD:1581290
NCBI chr 8:140,657,900...141,002,079
Ensembl chr 8:140,657,900...141,002,216
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RAMP2
receptor activity modifying protein 2
ISO
mRNA:increased expression:heart right ventricle
RGD
PMID:17437045
RGD:1642678
NCBI chr17:42,761,227...42,763,041
Ensembl chr17:42,758,447...42,763,041
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RELA
RELA proto-oncogene, NF-kB subunit
ISO
protein:altered localization:nucleus, blood vessel endothelial cell, lung associated with Hypoxia;protein:increased expression:pulmonary artery,smooth muscle tissue (mouse)
RGD
PMID:17934115 PMID:30172777
RGD:2298843 , RGD:329955443
NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090
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RHOA
ras homolog family member A
ISO
protein:altered localization:pulmonary artery protein:altered localization:membrane, artery, lung
RGD
PMID:16322374 PMID:18091588
RGD:1642819 , RGD:2298877
NCBI chr 3:49,359,145...49,411,976
Ensembl chr 3:49,359,139...49,412,998
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RYR1
ryanodine receptor 1
ISO
protein:altered localization: :
RGD
PMID:24692174
RGD:329813077
NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
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RYR2
ryanodine receptor 2
ISO
protein:increased expression:pulmonary artery
RGD
PMID:22962011
RGD:329813078
NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
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RYR3
ryanodine receptor 3
ISO
protein:altered localization: :
RGD
PMID:24692174
RGD:329813077
NCBI chr15:33,310,967...33,866,102
Ensembl chr15:33,310,962...33,866,121
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SERPINA1
serpin family A member 1
IEP ISO
protein:decreased expression:serum
RGD
PMID:17444595 PMID:1836309
RGD:1643144 , RGD:1643154
NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693
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SERPINE1
serpin family E member 1
treatment
IAGP ISO IEP
DNA:polymorphism:3'utr mRNA, protein:decreased expression:lung
RGD
PMID:20300292 PMID:27115515 PMID:18337154
RGD:4143527 , RGD:11073610 , RGD:4143529
NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
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SLC1A5
solute carrier family 1 member 5
IEP
protein:increased expression:myocytes plasma membrane, right ventricle
RGD
PMID:23794090
RGD:151361111
NCBI chr19:46,774,883...46,788,594
Ensembl chr19:46,774,883...46,788,594
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SLC2A4
solute carrier family 2 member 4
ISO
RGD
PMID:19043358
RGD:2313622
NCBI chr17:7,281,718...7,288,257
Ensembl chr17:7,281,718...7,288,257
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SLC31A1
solute carrier family 31 member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24614111
NCBI chr 9:113,221,544...113,264,492
Ensembl chr 9:113,221,544...113,264,492
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SLC6A4
solute carrier family 6 member 4
severity no_association onset
ISO EXP IAGP IMP
CTD Direct Evidence: marker/mechanism associated with Heart Septal Defects, Ventricular;DNA:polymorphisms (human) associated with Anoxia associated with Pulmonary Disease, Chronic Obstructive;DNA:polymorphism (human) DNA:polymorphism, repeat:promoter, intron (human) DNA:repeat:promoter (human)
CTD RGD
PMID:18506000 PMID:18074800 PMID:19886858 PMID:11259539 PMID:19736308 PMID:19556740 PMID:16399993 PMID:19736308 PMID:19473340 PMID:16339917 More...
RGD:4889437 , RGD:4889430 , RGD:4889445 , RGD:4889432 , RGD:4889434 , RGD:4889440 , RGD:4889432 , RGD:4889435 , RGD:4889442
NCBI chr17:30,194,319...30,235,697
Ensembl chr17:30,194,319...30,236,002
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SLC8A1
solute carrier family 8 member A1
IEP
protein:increased expression:pulmonary artery, smooth muscle cell
RGD
PMID:17192285
RGD:1642711
NCBI chr 2:40,097,270...40,512,435
Ensembl chr 2:40,097,270...40,611,053
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SMAD1
SMAD family member 1
ISO
protein:decreased phosphorylation:lung, vascular associated smooth muscle cell protein:decreased expression, increased phosphorylation:lung
RGD
PMID:17347486 PMID:18367643
RGD:1643222 , RGD:12903274
NCBI chr 4:145,480,770...145,559,176
Ensembl chr 4:145,481,194...145,559,176
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SMAD4
SMAD family member 4
ISO
RGD
PMID:17347486 PMID:18367643
RGD:1643222 , RGD:12903274
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
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SMAD6
SMAD family member 6
ISO
mRNA:decreased expression:lung
RGD
PMID:17347486
RGD:1643222
NCBI chr15:66,702,236...66,782,849
Ensembl chr15:66,702,236...66,782,849
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SMAD7
SMAD family member 7
ISO
RGD
PMID:17347486
RGD:1643222
NCBI chr18:48,919,853...48,950,965
Ensembl chr18:48,919,853...48,950,965
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SMAD9
SMAD family member 9
ISO
RGD
PMID:17347486
RGD:1643222
NCBI chr13:36,844,831...36,920,854
Ensembl chr13:36,844,831...36,920,887
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SMPD3
sphingomyelin phosphodiesterase 3
treatment
ISO
RGD
PMID:19088082
RGD:10042965
NCBI chr16:68,358,327...68,448,508
Ensembl chr16:68,358,327...68,448,508
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SOD2
superoxide dismutase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20110409
NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
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SOX17
SRY-box transcription factor 17
ISO
protein:decreased expression:lung (rat)
RGD
PMID:36913491
RGD:329853317
NCBI chr 8:54,457,935...54,460,892
Ensembl chr 8:54,457,935...54,460,892
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STAT3
signal transducer and activator of transcription 3
severity
ISO
protein:increased phosphorylation:lung
RGD
PMID:38602915
RGD:407450417
NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
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TAC1
tachykinin precursor 1
ISO
RGD
PMID:12662901
RGD:5147638
NCBI chr 7:97,732,086...97,740,472
Ensembl chr 7:97,732,084...97,740,472
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TACR1
tachykinin receptor 1
ISO
RGD
PMID:12662901
RGD:5147638
NCBI chr 2:75,046,463...75,199,520
Ensembl chr 2:75,046,463...75,199,520
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TACR2
tachykinin receptor 2
ISO
RGD
PMID:12662901
RGD:5147638
NCBI chr10:69,403,903...69,416,918
Ensembl chr10:69,403,903...69,416,918
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TEK
TEK receptor tyrosine kinase
IEP
mRNA, protein:increased expression:lung
RGD
PMID:16917117
RGD:1601487
NCBI chr 9:27,109,225...27,230,174
Ensembl chr 9:27,109,141...27,230,174
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TERT
telomerase reverse transcriptase
treatment
ISO IEP
RGD
PMID:24376652 PMID:24376652
RGD:11038675 , RGD:11038675
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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TGFA
transforming growth factor alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18424623
NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
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TGFB1
transforming growth factor beta 1
onset
IAGP IEP
DNA:SNPs: :multiple (human) protein:increased expression:blood
RGD
PMID:18496036 PMID:19324949
RGD:4145273 , RGD:4145138
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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TGFBR1
transforming growth factor beta receptor 1
ISO
RGD
PMID:18202349
RGD:2302019
NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192
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TGFBR2
transforming growth factor beta receptor 2
ISO
mRNA:decreased expression:lung
RGD
PMID:17392319
RGD:1601116
NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249
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THBD
thrombomodulin
IEP
associated with Mixed Connective Tissue Disease
RGD
PMID:16784493
RGD:1601639
NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
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THPO
thrombopoietin
IEP
protein:increased expression:pulmonary artery, plasma
RGD
PMID:12487786
RGD:1580087
NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968
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TLR4
toll like receptor 4
ISO
associated anoxia
RGD
PMID:20205596
RGD:4144108
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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TNC
tenascin C
severity
ISO IEP
protein:increased expression:plasma
RGD
PMID:19288153 PMID:20528622 PMID:16782755 PMID:15879421
RGD:4889564 , RGD:4889562 , RGD:4889567 , RGD:4889570
NCBI chr 9:115,019,575...115,118,157
Ensembl chr 9:115,019,575...115,118,207
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TNF
tumor necrosis factor
IEP EXP ISO
associated with pulmonary disease, chronic obstructive; protein:increased expression:serum CTD Direct Evidence: therapeutic associated with Pulmonary Edema; protein:increased expression:Bronchoalveolar Lavage Fluid
CTD RGD
PMID:2518282 PMID:16899829 PMID:9628235 PMID:12391106
RGD:4143280 , RGD:4142833 , RGD:4143422
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TP53
tumor protein p53
treatment
ISO
RGD
PMID:24334871
RGD:10043360
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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TP53BP1
tumor protein p53 binding protein 1
IEP
protein:increased expression:lung
RGD
PMID:24270264
RGD:9586752
NCBI chr15:43,403,061...43,510,640
Ensembl chr15:43,403,061...43,510,728
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TPH1
tryptophan hydroxylase 1
severity
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18506000 PMID:17675372
RGD:5686352
NCBI chr11:18,017,555...18,046,269
Ensembl chr11:18,017,555...18,046,269
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TPH2
tryptophan hydroxylase 2
severity
ISO
DNA:SNP: :1473C>G (mouse)
RGD
PMID:17675372
RGD:5686352
NCBI chr12:71,938,845...72,032,440
Ensembl chr12:71,938,845...72,186,618
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TRPC3
transient receptor potential cation channel subfamily C member 3
IEP
RGD
PMID:15358862
RGD:1580490
NCBI chr 4:121,874,481...121,952,060
Ensembl chr 4:121,874,481...121,952,060
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TRPC6
transient receptor potential cation channel subfamily C member 6
IEP
RGD
PMID:15358862
RGD:1580490
NCBI chr11:101,451,564...101,584,007
Ensembl chr11:101,451,564...101,872,562
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TRPV4
transient receptor potential cation channel subfamily V member 4
ISO
protein:increased expression:pulmonary artery
RGD
PMID:22962011
RGD:329813078
NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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TWIST1
twist family bHLH transcription factor 1
treatment
ISO
RGD
PMID:25593290
RGD:38500244
NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636
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UTS2
urotensin 2
ISO
RGD
PMID:15042392
RGD:2306848
NCBI chr 1:7,847,612...7,913,249
Ensembl chr 1:7,843,083...7,853,512
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VCAM1
vascular cell adhesion molecule 1
ISO
protein:increased expression:blood vessel endothelium
RGD
PMID:17934115
RGD:2298843
NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
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VEGFA
vascular endothelial growth factor A
ISO
associated with Hypoxia;protein:increased expression:pulmonary artery,smooth muscle tissue (mouse)
RGD
PMID:30172777
RGD:329955443
NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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VEGFB
vascular endothelial growth factor B
IDA
RGD
PMID:12547729
RGD:1625708
NCBI chr11:64,234,584...64,239,264
Ensembl chr11:64,234,584...64,239,264
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VIM
vimentin
ISO
protein:increased expression, increased phosphorylation:lung
RGD
PMID:25593290
RGD:38500244
NCBI chr10:17,228,241...17,237,593
Ensembl chr10:17,228,241...17,237,593
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VIP
vasoactive intestinal peptide
ISO
RGD
PMID:22140628
RGD:5685374
NCBI chr 6:152,750,797...152,759,760
Ensembl chr 6:152,750,797...152,759,765
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VWF
von Willebrand factor
IDA
RGD
PMID:14507115
RGD:1580645
NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770
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HLA-DPB1
major histocompatibility complex, class II, DP beta 1
susceptibility
IAGP
DNA:polymorphisms:cds:HLA-DPB1*0202 (human)
RGD
PMID:19165231
RGD:5143999
NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696
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AHR
aryl hydrocarbon receptor
treatment
ISO
RGD
PMID:33836606
RGD:401940192
NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152
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CYP1A1
cytochrome P450 family 1 subfamily A member 1
ISO
mRNA:increased expression:lung (rat)
RGD
PMID:33836606
RGD:401940192
NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536
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EGFR
epidermal growth factor receptor
treatment
ISO
RGD
PMID:31264901
RGD:38599217
NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
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EGLN1
egl-9 family hypoxia inducible factor 1
ISO
RGD
PMID:16761101
RGD:11252085
NCBI chr 1:231,363,756...231,422,287
Ensembl chr 1:231,363,751...231,422,287
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EGLN3
egl-9 family hypoxia inducible factor 3
ISO
RGD
PMID:16761101
RGD:11252085
NCBI chr14:33,924,227...33,951,074
Ensembl chr14:33,924,227...34,462,774
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G6PD
glucose-6-phosphate dehydrogenase
treatment
ISO
RGD
PMID:25063801
RGD:10449119
NCBI chr X:154,531,390...154,547,569
Ensembl chr X:154,517,825...154,547,572
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GOT1
glutamic-oxaloacetic transaminase 1
ISO
mRNA:decreased expression:lung (rat)
RGD
PMID:19823174
RGD:4145499
NCBI chr10:99,396,870...99,430,624
Ensembl chr10:99,396,870...99,430,624
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GOT2
glutamic-oxaloacetic transaminase 2
ISO
mRNA:decreased expression:lung (rat)
RGD
PMID:19823174
RGD:4145499
NCBI chr16:58,707,131...58,734,316
Ensembl chr16:58,707,131...58,734,342
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HPGD
15-hydroxyprostaglandin dehydrogenase
ISO
mRNA, protein:increased expression:lung
RGD
PMID:24657469
RGD:11667099
NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154
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IL6
interleukin 6
ameliorates
ISO
RGD
PMID:38602915
RGD:407450417
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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MFN2
mitofusin 2
ISO
mRNA, protein:decreased expression:lung (rat)
RGD
PMID:26485208
RGD:12910856
NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
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NOG
noggin
ISO
mRNA,protein:decreased expression:lung:
RGD
PMID:25740156
RGD:12801489
NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
G
NOS3
nitric oxide synthase 3
ISO
mRNA,protein:increased expression:pulmonary artery
RGD
PMID:9950873
RGD:11533933
NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
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PCNA
proliferating cell nuclear antigen
ISO
protein:increased expression:lung (rat)
RGD
PMID:26485208
RGD:12910856
NCBI chr20:5,114,953...5,126,622
Ensembl chr20:5,114,953...5,126,626
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PTGIS
prostaglandin I2 synthase
treatment
ISO
RGD
PMID:12062720
RGD:401959327
NCBI chr20:49,503,874...49,568,137
Ensembl chr20:49,503,874...49,568,137
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PTPRD
protein tyrosine phosphatase receptor type D
ISO
mRNA, protein:decreased expression:pulmonary artery (rat)
RGD
PMID:35848503
RGD:401976433
NCBI chr 9:8,314,246...10,613,002
Ensembl chr 9:8,314,246...10,613,002
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SLC39A12
solute carrier family 39 member 12
severity
ISO
RGD
PMID:26258299 PMID:26258299
RGD:10401832 , RGD:10401832
NCBI chr10:17,951,918...18,043,285
Ensembl chr10:17,951,839...18,043,292
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SOX17
SRY-box transcription factor 17
exacerbates
ISO
protein:decreased expression:pulmonary artery endothelium (mouse)
RGD
PMID:37066790 PMID:36919784 PMID:36205124 PMID:36913491
RGD:329853316 , RGD:329853737 , RGD:329853734 , RGD:329853317
NCBI chr 8:54,457,935...54,460,892
Ensembl chr 8:54,457,935...54,460,892
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STAT3
signal transducer and activator of transcription 3
ISO
protein:increased phosphorylation:lung
RGD
PMID:38602915
RGD:407450417
NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
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ATF4
activating transcription factor 4
ISO
protein:increased expression:lung
RGD
PMID:32209028
RGD:38549370
NCBI chr22:39,520,559...39,522,686
Ensembl chr22:39,519,695...39,522,686
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BMPR2
bone morphogenetic protein receptor type 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751
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DDIT3
DNA damage inducible transcript 3
IEP ISO
protein:increased expression:lung, endothelial cell
RGD
PMID:32209028 PMID:32209028
RGD:38549370 , RGD:38549370
NCBI chr12:57,516,588...57,520,517
Ensembl chr12:57,516,588...57,521,737
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EIF2AK2
eukaryotic translation initiation factor 2 alpha kinase 2
ISO
protein:increased expression:lung
RGD
PMID:32209028
RGD:38549370
NCBI chr 2:37,099,210...37,156,980
Ensembl chr 2:37,099,210...37,157,522
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EIF2AK3
eukaryotic translation initiation factor 2 alpha kinase 3
ISO
protein:increased expression:lung
RGD
PMID:32209028
RGD:38549370
NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518
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EIF2AK4
eukaryotic translation initiation factor 2 alpha kinase 4
disease_progression
IEP EXP ISO
protein:decreased expression:lung CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24292273 PMID:32209028 PMID:32209028
RGD:38549370 , RGD:38549370
NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591
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ERG
ETS transcription factor ERG
ISO IEP
protein:decreased expression:lung
RGD
PMID:32209028 PMID:32209028
RGD:38549370 , RGD:38549370
NCBI chr21:38,367,261...38,661,783
Ensembl chr21:38,380,027...38,661,780
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HMOX1
heme oxygenase 1
IEP ISO
protein:increased expression:lung, endothelial cell
RGD
PMID:32209028 PMID:32209028
RGD:38549370 , RGD:38549370
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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KCNK3
potassium two pore domain channel subfamily K member 3
ISO
RGD
PMID:32209028
RGD:38549370
NCBI chr 2:26,692,722...26,733,420
Ensembl chr 2:26,692,722...26,733,420
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BMPR2
bone morphogenetic protein receptor type 2
IAGP
ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1
OMIM ClinVar
PMID:3291115 PMID:10903931 PMID:11115378 PMID:12045205 PMID:12446270 PMID:15591269 PMID:15965979 PMID:16429395 PMID:16429403 PMID:18626305 PMID:19555857 PMID:20096498 PMID:20534176 PMID:21737554 PMID:21801371 PMID:23298310 PMID:24292273 PMID:25741868 PMID:26387786 PMID:28388887 PMID:28492532 PMID:28507310 PMID:31727138 PMID:31797984 PMID:32581362 PMID:34400635 More...
NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751
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EIF2AK4
eukaryotic translation initiation factor 2 alpha kinase 4
IAGP
ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1
ClinVar
PMID:24033266
NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591
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BMPR2
bone morphogenetic protein receptor type 2
IAGP
ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis
ClinVar
PMID:18626305 PMID:24292273
NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751
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EIF2AK4
eukaryotic translation initiation factor 2 alpha kinase 4
IAGP
ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis ClinVar Annotator: match by term: EIF2AK4-related condition | ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis
OMIM ClinVar
PMID:12215525 PMID:24033266 PMID:24135949 PMID:24292273 PMID:24310610 PMID:25512148 PMID:25741868 PMID:27684876 PMID:28492532 PMID:28972005 PMID:29743074 PMID:30285736 PMID:31711431 PMID:32581362 More...
NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591
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LOC130056813
ATAC-STARR-seq lymphoblastoid silent region 6314
IAGP
ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis ClinVar Annotator: match by term: EIF2AK4-related condition
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr15:39,933,988...39,934,397
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AGT
angiotensinogen
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:8763405
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
ISO
mRNA:decreased expression:kidney:
RGD
PMID:7591011
RGD:10047107
NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008
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CDKN1A
cyclin dependent kinase inhibitor 1A
ISO
protein:decreased expression:vascular associated smooth muscle cell
RGD
PMID:17439406
RGD:2289672
NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
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CRP
C-reactive protein
ISO
protein:increased expression:serum
RGD
PMID:22188107
RGD:6907405
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
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CYP2C8
cytochrome P450 family 2 subfamily C member 8
IDA
RGD
PMID:20495177
RGD:7243143
NCBI chr10:95,036,772...95,069,497
Ensembl chr10:95,036,772...95,069,497
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CYP2J2
cytochrome P450 family 2 subfamily J member 2
ISO IDA
protein:increased expression:kidney
RGD
PMID:10779386 PMID:20495177
RGD:1625381 , RGD:7243143
NCBI chr 1:59,893,308...59,969,212
Ensembl chr 1:59,893,308...59,926,773
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HMOX1
heme oxygenase 1
ISO
RGD
PMID:16316349
RGD:1582711
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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HSPA8
heat shock protein family A (Hsp70) member 8
IAGP
DNA: snp: 5'utr: -110A>C Associated with chronic kidney disease
RGD
PMID:21475814
RGD:7242785
NCBI chr11:123,057,489...123,062,462
Ensembl chr11:123,057,489...123,063,230
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IL6
interleukin 6
ISO
protein:increased expression:serum
RGD
PMID:22188107
RGD:6907405
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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MIR214
microRNA 214
ameliorates
ISO
RGD
PMID:30049682
RGD:38500245
NCBI chr 1:172,138,798...172,138,907
Ensembl chr 1:172,138,798...172,138,907
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MMP2
matrix metallopeptidase 2
ISO
RGD
PMID:12923405
RGD:1302333
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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MMP7
matrix metallopeptidase 7
ISO
protein:increased expression:kidney medulla
RGD
PMID:12923405
RGD:1302333
NCBI chr11:102,520,508...102,530,747
Ensembl chr11:102,520,508...102,530,750
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MMP9
matrix metallopeptidase 9
ISO
RGD
PMID:12923405
RGD:1302333
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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MT-ND1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
IAGP
DNA:missense mutation
RGD
PMID:18194667
RGD:2300400
NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262
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MYH9
myosin heavy chain 9
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18794856
NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010
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NOS2
nitric oxide synthase 2
ISO
RGD
PMID:20360752
RGD:4891374
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
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NOS3
nitric oxide synthase 3
ISO
RGD
PMID:20938214
RGD:4891989
NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
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NPPA
natriuretic peptide A
ISO EXP IEP IDA
protein:increased expression:plasma: CTD Direct Evidence: marker/mechanism associated with Hypertension;protein:increased expression:plasma
CTD RGD
PMID:8763405 PMID:20139323 PMID:12697975 PMID:15241786
RGD:7248593 , RGD:7248660 , RGD:7248617
NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345
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NPPB
natriuretic peptide B
ISO IEP
protein:increased expression:serum associated with Hypertension;protein:increased expression:plasma protein:increased expression:plasma:
RGD
PMID:22188107 PMID:12697975 PMID:20139323
RGD:6907405 , RGD:7248660 , RGD:7248593
NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945
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TIMP4
TIMP metallopeptidase inhibitor 4
ISO
protein:increased expression:kidney medulla
RGD
PMID:12923405
RGD:1302333
NCBI chr 3:12,153,068...12,158,912
Ensembl chr 3:12,153,068...12,158,912
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TNF
tumor necrosis factor
ISO
protein:increased expression:serum
RGD
PMID:22188107
RGD:6907405
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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CAT
catalase
ISO
RGD
PMID:22733796
RGD:7206853
NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
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ACE
angiotensin I converting enzyme
treatment
ISO
RGD
PMID:22342460 PMID:20630208
RGD:6893471 , RGD:8157609
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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ADM
adrenomedullin
IEP
protein:increased expression:plasma
RGD
PMID:15284680
RGD:1625303
NCBI chr11:10,305,073...10,307,397
Ensembl chr11:10,305,073...10,307,397
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ADRB1
adrenoceptor beta 1
ISO
RGD
PMID:17278011 PMID:15592645
RGD:7241568 , RGD:7241580
NCBI chr10:114,043,866...114,046,904
Ensembl chr10:114,043,866...114,046,904
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AGTR1
angiotensin II receptor type 1
ISO
mRNA:decreased expression:kidney:
RGD
PMID:21326341 PMID:9644212 PMID:16796846
RGD:5129177 , RGD:10047119 , RGD:5147455
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
ISO
RGD
PMID:21189405 PMID:18158356
RGD:6903867 , RGD:6903868
NCBI chr X:116,170,744...116,174,974
Ensembl chr X:116,170,744...116,174,974
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AVPR1A
arginine vasopressin receptor 1A
ISO
mRNA:altered expression:brain
RGD
PMID:15613739
RGD:2300323
NCBI chr12:63,142,759...63,151,201
Ensembl chr12:63,142,759...63,151,201
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CAMK2D
calcium/calmodulin dependent protein kinase II delta
treatment
ISO
RGD
PMID:26619200
RGD:401940196
NCBI chr 4:113,451,032...113,761,738
Ensembl chr 4:113,418,054...113,761,927
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CCND2
cyclin D2
ISO
protein:increased expression:left ventricle:
RGD
PMID:26300251
RGD:151664604
NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353
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CMA1
chymase 1
ISO
protein:increased activity:kidney (rat)
RGD
PMID:15869764
RGD:1581745
NCBI chr14:24,505,353...24,508,265
Ensembl chr14:24,505,353...24,508,265
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CXCL10
C-X-C motif chemokine ligand 10
ISO
RGD
PMID:17062848
RGD:2311383
NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497
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CXCR3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:17062848
RGD:2311383
NCBI chr X:71,615,919...71,618,511
Ensembl chr X:71,615,916...71,618,511
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DYRK1A
dual specificity tyrosine phosphorylation regulated kinase 1A
treatment
ISO
RGD
PMID:26619200
RGD:401940196
NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358
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EIF4G2
eukaryotic translation initiation factor 4 gamma 2
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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FN1
fibronectin 1
ISO
RGD
PMID:17324142
RGD:7205461
NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
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G6PD
glucose-6-phosphate dehydrogenase
treatment
ISO
RGD
PMID:22684021
RGD:10449172
NCBI chr X:154,531,390...154,547,569
Ensembl chr X:154,517,825...154,547,572
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GJA1
gap junction protein alpha 1
ISO
RGD
PMID:11422751
RGD:7207851
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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GJA5
gap junction protein alpha 5
ISO
RGD
PMID:11422751
RGD:7207851
NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362
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HAVCR1
hepatitis A virus cellular receptor 1
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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HDAC8
histone deacetylase 8
treatment
ISO
RGD
PMID:27673327
RGD:13208809
NCBI chr X:72,329,516...72,572,843
Ensembl chr X:72,329,516...72,573,101
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LAMA2
laminin subunit alpha 2
ISO
mRNA:decreased expression:heart
RGD
PMID:10773239
RGD:1600206
NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566
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LCN2
lipocalin 2
IEP
protein:increased expression:urine,plasma
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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MPO
myeloperoxidase
ISO
protein:increased activity:heart, brain, kidney
RGD
PMID:19549002
RGD:7174698
NCBI chr17:58,269,855...58,280,935
Ensembl chr17:58,269,855...58,280,935
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NOS1
nitric oxide synthase 1
ISO
RGD
PMID:16788145
RGD:1642130
NCBI chr12:117,208,142...117,361,626
Ensembl chr12:117,208,142...117,452,170
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NOS3
nitric oxide synthase 3
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:18641695
NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
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PDGFA
platelet derived growth factor subunit A
ISO
mRNA:increased expression:vascular associated smooth muscle cell
RGD
PMID:17439406
RGD:2289672
NCBI chr 7:497,258...520,700
Ensembl chr 7:497,258...520,296
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PRL
prolactin
ISO
protein:increased expression:plasma
RGD
PMID:17316702
RGD:1642574
NCBI chr 6:22,287,246...22,302,835
Ensembl chr 6:22,287,244...22,302,826
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PTGER3
prostaglandin E receptor 3
ISO
protein:increased expression:kidney (rat)
RGD
PMID:16788145
RGD:1642130
NCBI chr 1:70,852,358...71,047,816
Ensembl chr 1:70,852,353...71,047,816
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PTGS1
prostaglandin-endoperoxide synthase 1
ISO
RGD
PMID:17766473
RGD:2300258
NCBI chr 9:122,370,533...122,395,703
Ensembl chr 9:122,370,530...122,395,703
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RELA
RELA proto-oncogene, NF-kB subunit
ISO
protein:increased expression:nucleus, kidney
RGD
PMID:18032469
RGD:2298840
NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090
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REN
renin
ISO IEP
mRNA:increased expression:renal cortex (mouse) protein:increased activity:blood plasma (human)
RGD
PMID:22378822 PMID:2240003
RGD:6892688 , RGD:125097504
NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324
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SLC9A1
solute carrier family 9 member A1
treatment
ISO
RGD
PMID:12218313
RGD:727424
NCBI chr 1:27,098,809...27,155,125
Ensembl chr 1:27,098,809...27,166,981
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SLC9A3
solute carrier family 9 member A3
treatment
ISO
RGD
PMID:12218313
RGD:727424
NCBI chr 5:470,456...524,449
Ensembl chr 5:470,456...524,449
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SPP1
secreted phosphoprotein 1
ISO
RGD
PMID:12620700
RGD:1581326
NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
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SRSF1
serine and arginine rich splicing factor 1
treatment
ISO
RGD
PMID:26619200
RGD:401940196
NCBI chr17:57,989,038...58,007,246
Ensembl chr17:58,000,919...58,007,346
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ACVR1
activin A receptor type 1
severity
IEP
mRNA:increased expression:decidua basalis (human)
RGD
PMID:24331737
RGD:329845529
NCBI chr 2:157,736,446...157,876,330
Ensembl chr 2:157,736,251...157,876,330
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APEX1
apurinic/apyrimidinic endodeoxyribonuclease 1
susceptibility
IAGP
DNA:polymorphism::p.D148E (human)
RGD
PMID:24619222
RGD:401850778
NCBI chr14:20,455,226...20,457,767
Ensembl chr14:20,455,191...20,457,772
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COL4A2
collagen type IV alpha 2 chain
severity
IEP
mRNA:increased expression:decidua basalis (human)
RGD
PMID:24331737
RGD:329845529
NCBI chr13:110,307,284...110,513,209
Ensembl chr13:110,305,812...110,513,209
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ERAP1
endoplasmic reticulum aminopeptidase 1
severity
IEP
mRNA:increased expression:decidua basalis (human)
RGD
PMID:24331737
RGD:329845529
NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100
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ERAP2
endoplasmic reticulum aminopeptidase 2
severity
IEP
mRNA:increased expression:decidua basalis (human)
RGD
PMID:24331737
RGD:329845529
NCBI chr 5:96,875,939...96,919,716
Ensembl chr 5:96,875,986...96,919,703
G
GPX3
glutathione peroxidase 3
IEP
protein:increased expression:plasma
RGD
PMID:8476834
RGD:401827852
NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988
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H19
H19 imprinted maternally expressed transcript
severity
IDA
DNA:promoter:exon 1:hypermethylation
RGD
PMID:24969494
RGD:156430323
NCBI chr11:1,995,176...2,001,266
Ensembl chr11:1,995,165...2,004,552
G
LNPEP
leucyl and cystinyl aminopeptidase
severity
IEP
mRNA:increased expression:decidua basalis (human)
RGD
PMID:24331737
RGD:329845529
NCBI chr 5:96,936,080...97,037,513
Ensembl chr 5:96,935,394...97,037,513
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MIR155
microRNA 155
severity
IEP
miRNA:increased expression:blood serum (human)
RGD
PMID:31487655
RGD:155582220
NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
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MIR210
microRNA 210
severity
IEP
miRNA:increased expression:blood serum (human) miRNA:increased expression:blood plasma (human)
RGD
PMID:31487655 PMID:33778218
RGD:155582220 , RGD:155582221
NCBI chr11:568,089...568,198
Ensembl chr11:568,089...568,198
G
RBP4
retinol binding protein 4
severity
IEP
protein:decreased expression:blood serum (human) protein:increased expression:blood serum (human)
RGD
PMID:31949674 PMID:27279411 PMID:19573524
RGD:329845847 , RGD:329845859 , RGD:329845853
NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
97394
disease of anatomical entity
91022
cardiovascular system disease
16228
vascular disease
12024
artery disease
8205
hypertension
1813
Adams Nance Syndrome
0
Diastolic Hypertension, Resistance to
2
Faye-Petersen Ward Carey Syndrome
0
Grange Syndrome
2
Hypertension Resistant to Conventional Therapy
81
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy
1
Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial
1
Idiopathic Intracranial Hypertension with Papilledema
0
Isolated Systolic Hypertension
3
Kallikrein Hypertension
0
Masked Hypertension
1
Pregnancy-Induced Hypertension +
292
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension
0
Stress-Induced Hypertension
0
Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria
0
White Coat Hypertension
0
early onset hypertension
1
essential hypertension +
51
hypertension and brachydactyly syndrome
3
hypertensive retinopathy
2
malignant hypertension +
4
pulmonary hypertension +
431
secondary hypertension +
78