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
IDA
RGD
PMID:1570022
RGD:1598531
NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
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Abcc1
ATP binding cassette subfamily C member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17272743
NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114
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Abcc8
ATP binding cassette subfamily C member 8
ISO
associated with obesity;DNA:polymorphism:exon:
RGD
PMID:11030411
RGD:737749
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
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Abcc9
ATP binding cassette subfamily C member 9
IEP
protein:decreased expression:aorta
RGD
PMID:15964031 PMID:18471810
RGD:1598644 , RGD:2301909
NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356
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Abo
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
susceptibility
ISO
associated with COVID-19; DNA:polymorphism:cds:allele A (human)
RGD
PMID:32379894
RGD:35668862
NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
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Ace
angiotensin I converting enzyme
susceptibility treatment
ISO IEP IMP IDA
DNA:polymorphism CTD Direct Evidence: marker/mechanism protein:increased activity:lung (rat)
CTD RGD
PMID:15773232 PMID:17473847 PMID:20237592 PMID:27847271 PMID:17283861 PMID:30127255 PMID:27325568 PMID:16203874 PMID:24342267 PMID:3006710 PMID:15118671 PMID:17392119 More...
RGD:1601114 , RGD:401793709 , RGD:40400899 , RGD:1581743 , RGD:11039415 , RGD:8157611 , RGD:1331525 , RGD:1601113
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Ace2
angiotensin converting enzyme 2
treatment
ISO IEP
associated with Metabolic Syndrome X (MeSH:D024821) mRNA, protein:decreased expression:kidney (rat) CTD Direct Evidence: marker/mechanism|therapeutic mRNA, protein:decreased expression:aorta
CTD 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:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
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Acsm3
acyl-CoA synthetase medium-chain family member 3
IAGP
RGD
PMID:8094726 PMID:8507454
RGD:61050 , RGD:634023
NCBI chr 1:174,133,260...174,159,966
Ensembl chr 1:174,133,288...174,160,184
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Actc1
actin, alpha, cardiac muscle 1
IEP
RGD
PMID:16343576
RGD:1598724
NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523
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Ada
adenosine deaminase
IDA
RGD
PMID:9605386
RGD:1624292
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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Adamts16
ADAM metallopeptidase with thrombospondin type 1 motif, 16
IMP
RGD
PMID:23185005
RGD:9685162
NCBI chr 1:32,430,436...32,562,481
Ensembl chr 1:32,430,436...32,560,494
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Adamts16em1Bj
ADAM metallopeptidase with thrombospondin type 1 motif, 16; ZFN mutant1,Bj
IMP
RGD
PMID:23185005
RGD:9685162
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Adcy5
adenylate cyclase 5
ISO IEP
CTD Direct Evidence: marker/mechanism mRNA:decreased expression:heart left ventricle
CTD RGD
PMID:12717102 PMID:12717102
RGD:13464134
NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974
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Add1
adducin 1
IAGP ISO IDA
CTD Direct Evidence: marker/mechanism DNA:polymorphism: :p.G460W (human)
CTD RGD
PMID:15773232 PMID:19199261 PMID:15474463 PMID:8543181 PMID:9149697
RGD:1302895 , RGD:631736 , RGD:1624953
NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182
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Add2
adducin 2
no_association
IDA ISO
DNA:SNP: :rs4852706 (human) DNA:polymorphism
RGD GAD
PMID:2059221 PMID:24652215 PMID:15118671 PMID:16497648
RGD:631712 , RGD:10047131 , RGD:1331525 , RGD:1625293
NCBI chr 4:118,444,594...118,538,505
Ensembl chr 4:118,497,416...118,538,505
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Add3
adducin 3
IDA
RGD
PMID:12364392
RGD:704369
NCBI chr 1:252,147,341...252,255,126
Ensembl chr 1:252,147,386...252,255,124
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12860835
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Adm
adrenomedullin
IEP ISO
mRNA, protein:increased expression:myocardium, aorta protein:increased expression:plasma
RGD
PMID:16450076 PMID:16625237
RGD:1625300 , RGD:1625298
NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
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Adora1
adenosine A1 receptor
treatment no_association
IMP IDA ISO
associated with diabetes mellitus, experimental
RGD
PMID:8998253 PMID:9597368 PMID:15257174
RGD:1625366 , RGD:1625365 , RGD:1625367
NCBI chr13:45,658,872...45,695,821
Ensembl chr13:45,658,872...45,695,801
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Adora2a
adenosine A2a receptor
no_association
ISO
RGD GAD
PMID:15257174 PMID:15118671
RGD:1625367 , RGD:1331525
NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386
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Adra1a
adrenoceptor alpha 1A
IEP ISO
mRNA:decreased expression:aorta
RGD
PMID:16371063 PMID:19011682
RGD:1625770 , RGD:5688340
NCBI chr15:40,830,125...40,935,902
Ensembl chr15:40,832,534...40,927,500
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Adra1b
adrenoceptor alpha 1B
ISO
RGD
PMID:16095979
RGD:1625771
NCBI chr10:28,255,025...28,373,418
Ensembl chr10:28,255,025...28,312,919
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Adra2a
adrenoceptor alpha 2A
no_association
ISO IEP
DNA:polymorphism CTD Direct Evidence: marker/mechanism mRNA:decreased expression:adrenal gland medulla
CTD RGD
PMID:10694191 PMID:16636200 PMID:20691504
RGD:1625183 , RGD:6480490
NCBI chr 1:253,061,480...253,064,280
Ensembl chr 1:253,060,218...253,064,365
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Adra2b
adrenoceptor alpha 2B
ISO IMP
DNA:polymorphism (human)
RGD
PMID:18953403 PMID:17070424
RGD:2313541 , RGD:2313548
NCBI chr 3:114,585,174...114,589,220
Ensembl chr 3:114,585,169...114,589,355
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Adrb1
adrenoceptor beta 1
IEP ISO
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 chr 1:255,771,962...255,774,973
Ensembl chr 1:255,771,597...255,807,259
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Adrb2
adrenoceptor beta 2
no_association susceptibility
ISO IEP
DNA:polymorphisms: :p.R16G, p.Q27E DNA:polymorphisms: :pG16R, p.Q27E, p.T164I (human) associated with Kidney Failure, Chronic; DNA:SNP:cds:p.R16G (human) DNA:polymorphisms: :46A>G, 79C>G (human)
RGD GAD
PMID:17221209 PMID:16041242 PMID:15118671 PMID:2471888 PMID:20484896 PMID:20739939 PMID:16685203 More...
RGD:1601119 , RGD:1578728 , RGD:1331525 , RGD:7175287 , RGD:7175066 , RGD:4144883 , RGD:1601123
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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Adrb3
adrenoceptor beta 3
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.W64R (human)
RGD
PMID:10981554
RGD:2313166
NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
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Ager
advanced glycosylation end product-specific receptor
IEP ISO
protein:increased expression:kidney CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:32147540 PMID:19018797
RGD:2325653
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Agt
angiotensinogen
treatment no_association susceptibility
IEP ISO IDA IMP
protein:increased expression:plasma, urine ClinVar Annotator: match by term: Hypertension CTD Direct Evidence: marker/mechanism|therapeutic DNA:polymorphisms: :p.T174M, p.M235T (human) DNA:polymorphisms: :-6G>A, p.M235T, p.T174M DNA:polymorphism: :p.M235T DNA:polymorphism:promoter:-20C>A (human) DNA:polymorphism: :p.M268T (human)
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:21346625 PMID:33364953 PMID:24342267 PMID:21865264 PMID:19932924 PMID:9622148 PMID:19779471 PMID:15118671 PMID:1394429 PMID:12468106 PMID:16514903 PMID:17334527 PMID:16739866 PMID:17161775 PMID:21312059 More...
RGD:5129176 , RGD:329956421 , RGD:11039415 , RGD:8549470 , RGD:8549469 , RGD:8549458 , RGD:8548902 , RGD:1331525 , RGD:1300393 , RGD:1358275 , RGD:1601143 , RGD:1601130 , RGD:1601141 , RGD:1601139 , RGD:5129166
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Agtr1a
angiotensin II receptor, type 1a
treatment no_association susceptibility
IMP IEP ISO
associated with Sleep Apnea Syndromes CTD Direct Evidence: marker/mechanism mRNA:increased expression:aortic endothelial cell DNA:polymorphism:3' utr:1166A>C DNA:polymorphism:3' utr:g.1166A>C
CTD RGD
PMID:8952600 PMID:19047579 PMID:23603059 PMID:27292124 PMID:21040717 PMID:30127255 PMID:9622148 PMID:15118671 PMID:8181542 PMID:9456365 PMID:16519598 PMID:21346625 More...
RGD:5129169 , RGD:401793709 , RGD:8549458 , RGD:1331525 , RGD:5147456 , RGD:1601152 , RGD:1601148 , RGD:5129176
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Agtr1b
angiotensin II receptor, type 1b
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22728133 PMID:27847271 PMID:10994756
RGD:1598885
NCBI chr 2:102,844,969...102,920,232
Ensembl chr 2:102,844,969...102,920,232
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Agtr2
angiotensin II receptor, type 2
IMP ISO IEP
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:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057
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Agtrap
angiotensin II receptor-associated protein
IEP
protein:increased expression:kidney
RGD
PMID:18725581
RGD:2314351
NCBI chr 5:158,507,427...158,519,036
Ensembl chr 5:158,508,749...158,519,036
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Agxt2
alanine-glyoxylate aminotransferase 2
ISO
DNA:SNP, haplotype:exon:multiple (human)
RGD
PMID:33879046
RGD:329961321
NCBI chr 2:59,336,252...59,377,664
Ensembl chr 2:59,336,283...59,377,926
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Ahcy
adenosylhomocysteinase
ISO
associated with hyperhomocysteinemia
RGD
PMID:16815886
RGD:1601153
NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393
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Ahr
aryl hydrocarbon receptor
treatment
ISO IEP IMP
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 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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Ahrr
aryl-hydrocarbon receptor repressor
treatment
IEP
RGD
PMID:30127255 PMID:31489946
RGD:401793709 , RGD:401793758
NCBI chr 1:28,993,634...29,088,673
Ensembl chr 1:28,993,634...29,088,673
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Aif1
allograft inflammatory factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32147540
NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668
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Akt1
AKT serine/threonine kinase 1
IDA
protein:increased serine phosphorylation:kidney
RGD
PMID:23323219
RGD:10041025
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Akt2
AKT serine/threonine kinase 2
IEP
mRNA:increased expression:cerebral cortex (rat)
RGD
PMID:12902546
RGD:2313350
NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817
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Alad
aminolevulinate dehydratase
no_association
ISO
DNA:polymorphism CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20123609 PMID:11335187
RGD:1601156
NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
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Alb
albumin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:2526952
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Aldh2
aldehyde dehydrogenase 2 family member
susceptibility no_association
ISO
RGD
PMID:11510748 PMID:12484509
RGD:1601164 , RGD:1601163
NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
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Alox12
arachidonate 12-lipoxygenase, 12S type
IEP
mRNA:decreased expression:medulla oblongata
RGD
PMID:16445702
RGD:5509789
NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542
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Alox15
arachidonate 15-lipoxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22467300
NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874
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Alox5
arachidonate 5-lipoxygenase
IDA
RGD
PMID:16331105
RGD:1626151
NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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Angpt1
angiopoietin 1
ISO
protein:increased expression:plasma, platelet
RGD
PMID:16942942 PMID:18285514
RGD:1626157 , RGD:2316068
NCBI chr 7:73,528,345...73,783,953
Ensembl chr 7:73,531,486...73,784,067
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Anxa1
annexin A1
IEP ISO
protein:altered localization:vascular associated smooth muscle cell CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22228705 PMID:16109804
RGD:1599668
NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
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Aoc1
amine oxidase, copper containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6218830
NCBI chr 4:77,812,260...77,831,846
Ensembl chr 4:77,812,260...77,831,840
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Aoc3
amine oxidase, copper containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23154672
NCBI chr10:86,272,757...86,280,702
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Apln
apelin
IEP
mRNA:decreased expression:aorta, heart
RGD
PMID:15664402
RGD:1626176
NCBI chr X:127,180,801...127,213,567
Ensembl chr X:127,203,823...127,213,391
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Apoa1
apolipoprotein A1
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18224302 PMID:23401751
RGD:7241867
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Apob
apolipoprotein B
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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Apoe
apolipoprotein E
onset
ISO IEP
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 chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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App
amyloid beta precursor protein
IEP
RGD
PMID:29713228
RGD:13703136
NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
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Aqp1
aquaporin 1
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22228705 PMID:20156423
RGD:5148031
NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690
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Aqp2
aquaporin 2
IEP
protein:decreased expression:kidney medulla protein:increased expression:kidney medulla
RGD
PMID:16788141 PMID:16582573
RGD:1601242 , RGD:1601243
NCBI chr 7:130,711,433...130,716,468
Ensembl chr 7:130,711,413...130,716,468
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Aqp4
aquaporin 4
IEP
RGD
PMID:20156423
RGD:5148031
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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Ar
androgen receptor
treatment
IDA ISO IMP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10523385 PMID:15746697 PMID:12397037
RGD:1601245 , RGD:10043316
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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Arg1
arginase 1
IMP IEP
mRNA:increased expression:aorta (rat)
RGD
PMID:18475148 PMID:17223136
RGD:4142834 , RGD:1626296
NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
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Arg2
arginase 2
IMP IEP
mRNA:increased expression:lung mRNA:increased expression:aorta (rat)
RGD
PMID:18475148 PMID:20039818 PMID:17223136
RGD:4142834 , RGD:4143278 , RGD:1626296
NCBI chr 6:97,936,002...97,961,379
Ensembl chr 6:97,936,002...97,961,378
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Arhgdia
Rho GDP dissociation inhibitor alpha
IEP
mRNA:decreased expression:urinary bladder protein:decreased expression:cortical collecting duct
RGD
PMID:19689474 PMID:25164814
RGD:9684972 , RGD:9684979
NCBI chr10:105,854,526...105,858,020
Ensembl chr10:105,854,533...105,858,023
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Arid1b
AT-rich interaction domain 1B
treatment
IEP
RGD
PMID:17489020
RGD:9587762
NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
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Arnt
aryl hydrocarbon receptor nuclear translocator
treatment
IEP
RGD
PMID:23528973 PMID:31489946
RGD:401793732 , RGD:401793758
NCBI chr 2:182,997,731...183,056,584
Ensembl chr 2:182,997,736...183,056,580
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Arrb2
arrestin, beta 2
IEP
protein:decreased expression:rostral ventrolateral medulla
RGD
PMID:27861247
RGD:13506896
NCBI chr10:55,146,887...55,154,854
Ensembl chr10:55,146,818...55,154,850
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Atf2
activating transcription factor 2
IDA
RGD
PMID:11358932
RGD:10047414
NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236
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Atg7
autophagy related 7
IEP
protein:increased expression:skeletal muscle
RGD
PMID:24119246
RGD:11557985
NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593
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Atox1
antioxidant 1 copper chaperone
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:22753205
NCBI chr10:39,564,855...39,579,892
Ensembl chr10:39,564,857...39,579,950
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Atp1a1
ATPase Na+/K+ transporting subunit alpha 1
IAGP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23416519 PMID:8082931
RGD:1579862
NCBI chr 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837
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Atp1a2
ATPase Na+/K+ transporting subunit alpha 2
susceptibility
IEP ISO
protein:decreased expression:adrenal gland cortex zone CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16166162 PMID:16243970 PMID:11768735 PMID:11257061 PMID:16243970
RGD:1601253 , RGD:1601254 , RGD:1601251
NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
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Atp2a3
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3
IEP
RGD
PMID:11208768
RGD:68726
NCBI chr10:57,581,742...57,612,758
Ensembl chr10:57,582,128...57,612,748
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Atp2b1
ATPase plasma membrane Ca2+ transporting 1
IEP ISO
mRNA:increased expression:vascular associated smooth muscle cell CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19430479 PMID:20137670
RGD:2317726
NCBI chr 7:33,735,595...33,845,226
Ensembl chr 7:33,735,871...33,843,295
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Atp2b3
ATPase plasma membrane Ca2+ transporting 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23416519
NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775
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Atp5f1a
ATP synthase F1 subunit alpha
IEP
protein:decreased expression:heart left ventricle (rat)
RGD
PMID:24388463
RGD:7800726
NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794
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Atp6ap2
ATPase H+ transporting accessory protein 2
IEP
RGD
PMID:21321306
RGD:5132599
NCBI chr X:10,183,983...10,210,948
Ensembl chr X:10,183,068...10,210,918
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Avp
arginine vasopressin
IEP ISO
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 chr 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425
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Avpr1a
arginine vasopressin receptor 1A
IEP ISO
mRNA, protein:increased expression:paraventricular hypothalamic nucleus mRNA, protein:increased expression:kidney, arteriole DNA:SNP
RGD
PMID:15475662 PMID:15657301 PMID:17653244
RGD:2300330 , RGD:2300322 , RGD:2300319
NCBI chr 7:58,114,306...58,118,230
Ensembl chr 7:58,114,284...58,122,215
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Avpr2
arginine vasopressin receptor 2
severity
IDA
RGD
PMID:12072411
RGD:1298694
NCBI chr X:151,633,501...151,636,155
Ensembl chr X:151,633,522...151,635,989
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B2m
beta-2 microglobulin
ISO
protein:increased expression:serum
RGD
PMID:15957539
RGD:1601306
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Bad
BCL2-associated agonist of cell death
treatment
IEP
RGD
PMID:20065158
RGD:10053702
NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
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Bax
BCL2 associated X, apoptosis regulator
treatment
IEP
RGD
PMID:20065158
RGD:10053702
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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Bche
butyrylcholinesterase
ISO
RGD
PMID:12387587
RGD:1601322
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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Bcl2
BCL2, apoptosis regulator
treatment
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10075388 PMID:20065158
RGD:10053702
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Bdkrb1
bradykinin receptor B1
IMP IEP ISO
RGD
PMID:17988733 PMID:12025958 PMID:15643125
RGD:5129214 , RGD:704378 , RGD:1625732
NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747
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Bdkrb2
bradykinin receptor B2
IEP ISO
protein:increased expression:spinal cord CTD Direct Evidence: marker/mechanism mRNA:increased expression:hypothalamus DNA:SNP:promoter:-58T>C (human)
CTD RGD
PMID:10614985 PMID:11934804 PMID:15118671 PMID:12025958 PMID:10904024
RGD:4890455 , RGD:1331525 , RGD:704378 , RGD:4891034
NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
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Becn1
beclin 1
IEP
protein:increased expression:brain
RGD
PMID:23499735
RGD:11561939
NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
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Bmal2
basic helix-loop-helix ARNT like 2
ISO
DNA:SNPs: :rs6486121, rs3789327, rs969485(human)
RGD
PMID:17728404
RGD:2314371
NCBI chr 4:179,699,432...179,747,710
Ensembl chr 4:179,699,502...179,746,949
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Bmp2
bone morphogenetic protein 2
treatment
IEP
RGD
PMID:33364953
RGD:329956421
NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
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Brca1
BRCA1, DNA repair associated
treatment
ISO
RGD
PMID:24239235
RGD:8693672
NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
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Brs3
bombesin receptor subtype 3
ISO
RGD
PMID:9367152
RGD:734661
NCBI chr X:134,906,817...134,932,321
Ensembl chr X:134,906,784...134,930,983
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C3
complement C3
IEP
RGD
PMID:22416803
RGD:11040890
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Cacna1c
calcium voltage-gated channel subunit alpha1 C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22949532
NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
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Cacna2d1
calcium voltage-gated channel auxiliary subunit alpha2delta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22949532
NCBI chr 4:18,950,611...19,374,969
Ensembl chr 4:18,951,002...19,374,969
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Cacnb2
calcium voltage-gated channel auxiliary subunit beta 2
susceptibility
ISO
DNA:SNP: :rs4373814(human)
RGD
PMID:24338417
RGD:13513987
NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106
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Calca
calcitonin-related polypeptide alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1849535 PMID:9887042
NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
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Capn6
calpain 6
IEP
associated with high salt diet; mRNA:decreased expression:heart (rat)
RGD
PMID:15665521
RGD:405101696
NCBI chr X:107,380,774...107,405,489
Ensembl chr X:107,380,774...107,405,489
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Capn9
calpain 9
IEP
associated with high salt diet; mRNA:decreased expression:heart (rat)
RGD
PMID:15665521
RGD:405101696
NCBI chr19:52,549,448...52,586,413
Ensembl chr19:52,549,448...52,586,413
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Casp3
caspase 3
treatment
IDA IEP
RGD
PMID:20065158 PMID:27929425
RGD:10053702 , RGD:13782308
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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Casp8
caspase 8
IEP
RGD
PMID:27929425
RGD:13782308
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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Casp9
caspase 9
IEP
RGD
PMID:27929425
RGD:13782308
NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
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Cast
calpastatin
IEP
associated with high salt diet; mRNA:increased expression:heart (rat)
RGD
PMID:15665521
RGD:405101696
NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659
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Cat
catalase
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11479740 PMID:20667508 PMID:21593737 PMID:22228705 PMID:16716903
RGD:1580833
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Cav1
caveolin 1
IEP ISO
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 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Cbs
cystathionine beta synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18224302
NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
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Ccl2
C-C motif chemokine ligand 2
ameliorates treatment
IEP ISO IDA
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 chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl28
C-C motif chemokine ligand 28
no_association
IEP
mRNA, protein:decreased expression:kidney (rat) protein:increased expression:kidney (rat)
RGD
PMID:19829664 PMID:16840655
RGD:4892132 , RGD:2298761
NCBI chr 2:51,601,354...51,625,999
Ensembl chr 2:51,601,331...51,625,997
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Ccl5
C-C motif chemokine ligand 5
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum
RGD
PMID:15668187
RGD:2307105
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Ccn2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16685210
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
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Ccne1
cyclin E1
IEP
protein:increased expression:vascular associated smooth muscle cell
RGD
PMID:12847112
RGD:2289296
NCBI chr 1:90,781,947...90,791,188
Ensembl chr 1:90,781,949...90,791,101
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Ccr5
C-C motif chemokine receptor 5
IEP ISO
mRNA:increased expression:aorta (rat) DNA:frameshift mutation:cds:p.S185_T195del rs333 (human)
RGD
PMID:20044442 PMID:12680626
RGD:4890416 , RGD:1581182
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd14
CD14 molecule
ISO
associated with Glomerulonephritis, IGA; DNA:polymorphism: :-159C>T (human)
RGD
PMID:22072187
RGD:7204129
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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Cd36
CD36 molecule
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18587397 PMID:18587397
RGD:2300254
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Cd82
Cd82 molecule
IEP
mRNA:increased expression:thymus
RGD
PMID:10321446
RGD:2289422
NCBI chr 3:79,387,361...79,431,847
Ensembl chr 3:79,385,887...79,431,809
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
IEP
protein:increased expression:kidney
RGD
PMID:18504326
RGD:2316082
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Cdo1
cysteine dioxygenase type 1
IEP
protein:decreased expression:brain
RGD
PMID:6726227
RGD:2301363
NCBI chr18:39,432,473...39,447,253
Ensembl chr18:39,432,474...39,447,296
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Cela2a
chymotrypsin like elastase 2A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypertension
CTD ClinVar
PMID:21602471 PMID:25741868 PMID:31358993
NCBI chr 5:154,126,879...154,136,630
Ensembl chr 5:154,126,878...154,136,632
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Chga
chromogranin A
no_association
ISO IEP
protein:creased expression:adrenal gland mRNA, protein:increased expression:adrenal gland medulla, plasma DNA:polymorphisms:promoter
RGD
PMID:21061160 PMID:10803489 PMID:10803489 PMID:20113265 PMID:20729505
RGD:6906897 , RGD:6907055 , RGD:6907055 , RGD:6906902 , RGD:6906900
NCBI chr 6:121,696,051...121,707,399
Ensembl chr 6:121,696,051...121,707,398
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Chi3l1
chitinase 3 like 1
IEP
mRNA:increased expression:brainstem, solitary tract nucleus (rat)
RGD
PMID:18703386
RGD:4892597
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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Chst12
carbohydrate sulfotransferase 12
IEP
mRNA:decreased expression:renal cortex and medulla (rat)
RGD
PMID:25001272
RGD:8693701
NCBI chr12:14,110,631...14,129,099
Ensembl chr12:14,110,393...14,129,057
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Clcnka
chloride voltage-gated channel Ka
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18480177
NCBI chr 5:153,691,208...153,706,295
Ensembl chr 5:153,691,209...153,706,148
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Clcnkb
chloride voltage-gated channel Kb
no_association
ISO
DNA:polymorphism:T481S
RGD
PMID:15148291 PMID:16003175
RGD:1600684 , RGD:1600683
NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153
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Cldn16
claudin 16
IDA
Protein:decreased serine phosphorylation:kidney
RGD
PMID:16959063
RGD:1599616
NCBI chr11:74,290,298...74,309,588
Ensembl chr11:74,290,298...74,309,588
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Clock
clock circadian regulator
IEP
mRNA:altered expression:gastrocnemius muscle (rat)
RGD
PMID:22076133
RGD:9686076
NCBI chr14:31,908,542...31,992,673
Ensembl chr14:31,908,566...31,990,400
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Clu
clusterin
ISO
DNA:SNP:exon:866C>T (human)
RGD
PMID:15925890
RGD:1581195
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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Cma1
chymase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14620933
NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
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Cnr1
cannabinoid receptor 1
IMP
RGD
PMID:19133994
RGD:2314680
NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099
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Col1a1
collagen type I alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11682445
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Col3a1
collagen type III alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11682445
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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Col4a5
collagen type IV alpha 5 chain
ISO
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:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692
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Col6a3
collagen type VI alpha 3 chain
ISO
DNA:SNP:CDS:E1386K (rs146092501) (human)
RGD
PMID:30226566
RGD:401851058
NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
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Comt
catechol-O-methyltransferase
susceptibility
IEP IDA ISO
protein:increased expression:cerebral cortex DNA:polymorphism: :-1187G>C, 186C>T
RGD
PMID:17978496 PMID:17510509 PMID:17143180 PMID:14714585
RGD:2289729 , RGD:8662344 , RGD:2289742 , RGD:2289787
NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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Corin
corin, serine peptidase
ISO
RGD
PMID:17485366 PMID:16216958
RGD:1626338 , RGD:1581219
NCBI chr14:35,680,601...35,910,703
Ensembl chr14:35,681,304...35,909,503
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Cox5b
cytochrome c oxidase subunit 5B
IEP
protein:decreased expression:heart left ventricle
RGD
PMID:16132109
RGD:2301377
NCBI chr 9:38,921,980...38,923,806
Ensembl chr 9:38,921,967...38,925,052
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Cps1
carbamoyl-phosphate synthase 1
IEP
protein:decreased expression:liver, mitochondrion
RGD
PMID:19135993
RGD:2303405
NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
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Creb1
cAMP responsive element binding protein 1
treatment
IDA
RGD
PMID:21697807
RGD:10059385
NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
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Crhr1
corticotropin releasing hormone receptor 1
IDA
corticotropin releasing hormone-induced
RGD
PMID:11036160
RGD:1581302
NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481
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Crhr2
corticotropin releasing hormone receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10742107
NCBI chr 4:84,222,897...84,265,924
Ensembl chr 4:84,224,002...84,265,904
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Crp
C-reactive protein
IEP ISO
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 chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Ctf1
cardiotrophin 1
ISO IEP
protein:increased expression:plasma mRNA:increased expression:cardiac ventricle
RGD
PMID:15716706 PMID:8604995
RGD:1626411 , RGD:69823
NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335
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Ctsc
cathepsin C
IEP
RGD
PMID:657443
RGD:1599651
NCBI chr 1:142,028,386...142,059,841
Ensembl chr 1:142,028,392...142,060,387
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Cxcl2
C-X-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22352330
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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Cxcr2
C-X-C motif chemokine receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27678262
NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
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Cyba
cytochrome b-245 alpha chain
IDA ISO IEP
CTD Direct Evidence: marker/mechanism protein:increased expression:kidney cortex
CTD RGD
PMID:16685210 PMID:17324946 PMID:20505675 PMID:32147540 PMID:17109653 PMID:12729892 PMID:20018820 More...
RGD:4775206 , RGD:1580276 , RGD:2317853
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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Cybb
cytochrome b-245 beta chain
IEP ISO
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:13,358,101...13,392,570
Ensembl chr X:13,359,430...13,392,586
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Cyp11a1
cytochrome P450, family 11, subfamily a, polypeptide 1
IEP
mRNA:increased expression:hypothalamus
RGD
PMID:16116051
RGD:1599701
NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
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Cyp11b1
cytochrome P450, family 11, subfamily b, polypeptide 1
IEP IAGP
mRNA:decreased expression:hypothalamus, cerebellum, cortex (rat)
RGD
PMID:19837774 PMID:7981756
RGD:4891156 , RGD:69709
NCBI chr 7:106,772,597...106,780,536
Ensembl chr 7:106,718,274...106,779,278
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Cyp11b2
cytochrome P450, family 11, subfamily b, polypeptide 2
ISO IMP IEP
DNA:transition:5' utr:-344C>T (human) mRNA:increased expression:brainstem, hippocampus, cortex (rat)
RGD
PMID:10024332 PMID:18495825 PMID:19837774
RGD:4891152 , RGD:2307304 , RGD:4891156
NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
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Cyp11b3
cytochrome P450, family 11, subfamily b, polypeptide 3
ISO
ClinVar Annotator: match by term: Aldosterone to renin ratio, increased
ClinVar
PMID:12213905 PMID:12788845 PMID:17003099
NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048
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Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
IEP
mRNA:decreased expression:ovary (rat)
RGD
PMID:19228890
RGD:4761326
NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
treatment
ISO IEP
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 chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Cyp1b1
cytochrome P450, family 1, subfamily b, polypeptide 1
treatment
IEP
RGD
PMID:23528973
RGD:401793732
NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
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Cyp2c11
cytochrome P450, subfamily 2, polypeptide 11
ISO IEP
RGD
PMID:19669737 PMID:18829737
RGD:6903909 , RGD:6903915
NCBI chr 1:236,762,719...236,799,069
Ensembl chr 1:236,762,842...236,799,066
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Cyp2j4
cytochrome P450, family 2, subfamily j, polypeptide 4
susceptibility
ISO
DNA:SNP
RGD
PMID:17286575 PMID:20501636
RGD:1625379 , RGD:7243136
NCBI chr 5:111,179,981...111,207,490
Ensembl chr 5:111,178,703...111,244,794
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Cyp2r1
cytochrome P450, family 2, subfamily r, polypeptide 1
ISO
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 chr 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759
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Cyp4a1
cytochrome P450, family 4, subfamily a, polypeptide 1
ISO IEP
mRNA:decreased expression:kidney cortex
RGD
PMID:16144986 PMID:16339392 PMID:18952718
RGD:1625567 , RGD:2303383 , RGD:2303381
NCBI chr 5:129,123,323...129,137,464
Ensembl chr 5:129,123,336...129,137,464
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Cyp4a8
cytochrome P450, family 4, subfamily a, polypeptide 8
IEP
mRNA:decreased expression:kidney cortex
RGD
PMID:18952718 PMID:16339392
RGD:2303381 , RGD:2303383
NCBI chr 5:128,702,130...128,733,476
Ensembl chr 5:128,702,131...128,733,476
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Cyp4f1
cytochrome P450, family 4, subfamily f, polypeptide 1
IEP
mRNA:increased expression:kidney
RGD
PMID:16182239
RGD:2301709
NCBI chr 7:12,010,850...12,022,497
Ensembl chr 7:12,010,852...12,022,046
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Dars2
aspartyl-tRNA synthetase 2 (mitochondrial)
ISO
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 chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934
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Dbh
dopamine beta-hydroxylase
resistance
IEP ISO
mRNA:increased expression:heart, adrenal gland (rat) DNA:polymorphism:5' utr:g.-2073C>T rs1989787 (human)
RGD
PMID:20596792 PMID:20814407
RGD:5129234 , RGD:5129211
NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248
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Ddah1
dimethylarginine dimethylaminohydrolase 1
susceptibility
ISO
RGD
PMID:16444868
RGD:1625582
NCBI chr 2:234,667,499...234,800,322
Ensembl chr 2:234,667,491...234,799,339
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Dio2
iodothyronine deiodinase 2
susceptibility
ISO
RGD
PMID:17224473
RGD:1626437
NCBI chr 6:109,665,523...109,679,809
Ensembl chr 6:109,665,523...109,679,809
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Drd1
dopamine receptor D1
ISO
RGD
PMID:10948075 PMID:8636408
RGD:1580869 , RGD:1300303
NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002
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Drd2
dopamine receptor D2
ISO
DNA:polymorphism CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11566895 PMID:15939106 PMID:11494094
RGD:1600905 , RGD:1580874
NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875
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Drd3
dopamine receptor D3
IDA
RGD
PMID:11675403
RGD:1580882
NCBI chr11:56,879,689...56,931,901
Ensembl chr11:56,879,689...56,940,596
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Drd5
dopamine receptor D5
ISO
RGD
PMID:12486173
RGD:1580887
NCBI chr14:72,487,950...72,491,050
Ensembl chr14:72,489,347...72,490,774
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Dusp1
dual specificity phosphatase 1
IEP
mRNA, protein:increased expression:aorta
RGD
PMID:9231829
RGD:2298678
NCBI chr10:16,680,478...16,683,275
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Dusp5
dual specificity phosphatase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25397684
NCBI chr 1:252,538,408...252,555,320
Ensembl chr 1:252,538,449...252,551,818
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Dynll1
dynein light chain LC8-type 1
treatment
IMP
RGD
PMID:24035314
RGD:13207430
NCBI chr12:41,312,365...41,316,157
Ensembl chr12:41,312,367...41,314,741
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Ece1
endothelin converting enzyme 1
IDA ISO IEP
CTD Direct Evidence: marker/mechanism mRNA,protein:increased expression,increased activity:kidney medulla
CTD RGD
PMID:12566389 PMID:12193123 PMID:10894793
RGD:1580907 , RGD:7244182
NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
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Edn1
endothelin 1
IEP ISO
protein:increased secretion:plasma (rat) CTD Direct Evidence: marker/mechanism human gene in a rat model associated with Diabetic Nephropathies;protein:increased secretion:plasma DNA:polymorphism:exon:p.K198N (human)
CTD 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 chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Edn2
endothelin 2
ISO
mRNA:increased expression:leukocyte
RGD
PMID:10976780 PMID:10489105 PMID:15007037
RGD:1580916 , RGD:1580917 , RGD:1625402
NCBI chr 5:133,751,316...133,756,814
Ensembl chr 5:133,751,217...133,756,814
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Edn3
endothelin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2059916
NCBI chr 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093
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Ednra
endothelin receptor type A
IEP ISO IDA
associated with Uremia CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12600921 PMID:20144075 PMID:14616768 PMID:16157796
RGD:4892284 , RGD:1580950 , RGD:1581830
NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
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Ednrb
endothelin receptor type B
IEP IMP
associated with Uremia
RGD
PMID:20144075 PMID:10749572
RGD:4892284 , RGD:628518
NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
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Egfr
epidermal growth factor receptor
IEP
mRNA, protein:increased expression:renal cortex
RGD
PMID:15827348
RGD:1580953
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Egln1
egl-9 family hypoxia-inducible factor 1
IMP
RGD
PMID:22686466
RGD:11252087
NCBI chr19:52,867,900...52,907,308
Ensembl chr19:52,869,486...52,907,777
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Eif4g2
eukaryotic translation initiation factor 4, gamma 2
IEP
mRNA:increased expression:heart left ventricle
RGD
PMID:12708758
RGD:10755511
NCBI chr 1:165,181,433...165,193,583
Ensembl chr 1:165,181,434...165,193,588
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Eln
elastin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17039479
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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Emilin1
elastin microfibril interfacer 1
ISO
RGD
PMID:16530041
RGD:1580958
NCBI chr 6:25,455,974...25,463,713
Ensembl chr 6:25,445,298...25,463,698
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Eng
endoglin
IEP
mRNA:decreased expression:kidney (rat)
RGD
PMID:19829664
RGD:4892132
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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Eno1
enolase 1
IEP
RGD
PMID:16485256
RGD:1598909
NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336
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Eno2
enolase 2
severity
ISO
protein:increased expression:serum
RGD
PMID:21130083
RGD:5508770
NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980
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Entpd2
ectonucleoside triphosphate diphosphohydrolase 2
IEP
RGD
PMID:20655932
RGD:9685529
NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866
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Ep300
E1A binding protein p300
IEP
protein:increased expression:left ventricle (rat)
RGD
PMID:18292809
RGD:2312265
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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Ephx2
epoxide hydrolase 2
susceptibility
IDA IMP ISO
DNA:missense mutation:cds:p.K55R (human)
RGD
PMID:16157792 PMID:21720266 PMID:19553349 PMID:20065888
RGD:1580985 , RGD:5688733 , RGD:5688730 , RGD:5688727
NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615
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Epo
erythropoietin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1516988 PMID:10694834
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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Epor
erythropoietin receptor
susceptibility
ISO
induced by erythropoietin;
RGD
PMID:19458615
RGD:11041646
NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
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Erap1
endoplasmic reticulum aminopeptidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:13678427
NCBI chr 2:3,931,817...3,970,735
Ensembl chr 2:3,931,904...3,972,447
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Esr2
estrogen receptor 2
ISO IMP
RGD
PMID:11799247 PMID:23608653 PMID:11185739 PMID:15167447
RGD:734949 , RGD:7364951 , RGD:1581015 , RGD:1581017
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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F11
coagulation factor XI
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6383834
NCBI chr16:46,987,988...47,009,015
Ensembl chr16:46,986,107...47,008,437
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F11r
F11 receptor
susceptibility
ISO IEP
DNA:SNPs: :rs790056, rs2774276 (human)
RGD
PMID:18067551 PMID:17420334
RGD:7488938 , RGD:7488939
NCBI chr13:83,873,797...83,897,388
Ensembl chr13:83,873,797...83,897,402
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F12
coagulation factor XII
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypertension
CTD ClinVar
PMID:6383834 PMID:16638441 PMID:25741868
NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
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F2r
coagulation factor II (thrombin) receptor
IDA
RGD
PMID:9168786
RGD:1581034
NCBI chr 2:26,869,343...26,885,856
Ensembl chr 2:26,868,404...26,885,870
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F3
coagulation factor III, tissue factor
treatment
IEP
RGD
PMID:21423288
RGD:11341709
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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F7
coagulation factor VII
ISO IEP
protein:increased activity:plasma (human) protein:increased activity:plasma (rat)
RGD
PMID:10450539 PMID:8123879 PMID:812575
RGD:2312402 , RGD:2312412 , RGD:2312323
NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610
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Fabp1
fatty acid binding protein 1
ISO
possibly associated with arteriosclerosis (MeSH:D001161)
RGD
PMID:15830271
RGD:1626441
NCBI chr 4:103,191,015...103,194,791
Ensembl chr 4:103,191,006...103,194,788
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Fabp3
fatty acid binding protein 3
susceptibility
ISO
DNA:SNPs
RGD
PMID:18437121
RGD:2307331
NCBI chr 5:142,651,962...142,658,707
Ensembl chr 5:142,651,956...142,658,718
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Fadd
Fas associated via death domain
treatment
IEP
RGD
PMID:24355328
RGD:11344883
NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653
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Fads1
fatty acid desaturase 1
IEP
RGD
PMID:12144877
RGD:1625415
NCBI chr 1:206,827,724...206,842,734
Ensembl chr 1:206,827,765...206,842,734
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Fah
fumarylacetoacetate hydrolase
IEP
mRNA:decreased expression:kidney
RGD
PMID:15731461
RGD:1559295
NCBI chr 1:138,548,830...138,571,599
Ensembl chr 1:138,548,834...138,571,505
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Fbn1
fibrillin 1
IEP
protein:increased expression:renal glomerulus (rat)
RGD
PMID:16380460
RGD:7365080
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Fgf2
fibroblast growth factor 2
IEP
associated with Aortic Coarctation
RGD
PMID:17562191
RGD:8655614
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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Fgf21
fibroblast growth factor 21
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:29706566
NCBI chr 1:96,083,360...96,084,911
Ensembl chr 1:96,083,441...96,090,454
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Fmo3
flavin containing dimethylaniline monoxygenase 3
no_association
ISO
associated with trimethylaminuria, OMIM:602079
RGD
PMID:9536088 PMID:16324215
RGD:1626461 , RGD:1626466
NCBI chr13:75,309,367...75,334,915
Ensembl chr13:75,309,374...75,328,028
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Fn1
fibronectin 1
ISO IEP IAGP
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 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
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Fndc5
fibronectin type III domain containing 5
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:32165127
NCBI chr 5:141,481,593...141,491,257
Ensembl chr 5:141,481,590...141,490,731
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Fos
Fos proto-oncogene, AP-1 transcription factor subunit
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12044476 PMID:24039778 PMID:16696897
RGD:7242185
NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
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Foxp3
forkhead box P3
treatment
IEP
RGD
PMID:24420551
RGD:38549366
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Fto
FTO, alpha-ketoglutarate dependent dioxygenase
ISO
associated with Obesity DNA:SNP:intron:rs9302652 (human)
RGD
PMID:31801409 PMID:20031594
RGD:329812016 , RGD:329901765
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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Fxyd2
FXYD domain-containing ion transport regulator 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22228705
NCBI chr 8:45,712,901...45,720,032
Ensembl chr 8:45,712,903...45,720,203
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Gabbr1
gamma-aminobutyric acid type B receptor subunit 1
IEP
mRNA:increased expression:brain
RGD
PMID:18338268
RGD:2315462
NCBI chr20:1,464,534...1,494,114
Ensembl chr20:1,464,534...1,493,994
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Gad1
glutamate decarboxylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32165127
NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333
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Gal
galanin and GMAP prepropeptide
IEP ISO
mRNA:decreased expression:paraventricular hypothalamic nucleus, solitary tract nucleus CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10818254 PMID:15275958
RGD:1624333
NCBI chr 1:200,650,439...200,655,302
Ensembl chr 1:200,650,439...200,654,959
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Gata5
GATA binding protein 5
susceptibility
ISO
DNA:SNPs:intron, exon:rs6061245,rs6587239 (human)
RGD
PMID:26617239
RGD:11343485
NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751
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Gcg
glucagon
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22228705
NCBI chr 3:47,113,914...47,122,958
Ensembl chr 3:47,113,914...47,122,929
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Gch1
GTP cyclohydrolase 1
treatment sexual_dimorphism
ISO IDA IMP IEP
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 chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
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Gck
glucokinase
susceptibility
ISO
RGD
PMID:9324112
RGD:1581877
NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
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Gclc
glutamate-cysteine ligase, catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22228705
NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544
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Ghsr
growth hormone secretagogue receptor
ISO
associated with Obesity
RGD
PMID:24760503
RGD:12910115
NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865
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Gja1
gap junction protein, alpha 1
treatment
IEP ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:16448880 PMID:36720419 PMID:16448880 PMID:23719203
RGD:7207810 , RGD:8662439
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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Gja4
gap junction protein, alpha 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16448880
NCBI chr 5:139,633,324...139,635,857
Ensembl chr 5:139,633,287...139,635,925
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Gja5
gap junction protein, alpha 5
treatment
IDA ISO IEP
CTD Direct Evidence: marker/mechanism protein:decreased expression:artery endothelium
CTD RGD
PMID:19109587 PMID:19686729 PMID:11821709
RGD:7207417 , RGD:7207848
NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952
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Gjc1
gap junction protein, gamma 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19109587
NCBI chr10:87,758,192...87,785,443
Ensembl chr10:87,760,528...87,785,867
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Glce
glucuronic acid epimerase
ISO
DNA:SNP: : rs3865014 (human)
RGD
PMID:27699767
RGD:401717571
NCBI chr 8:62,546,104...62,612,144
Ensembl chr 8:62,546,107...62,612,040
G
Glp1r
glucagon-like peptide 1 receptor
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22228705 PMID:12093887
RGD:625448
NCBI chr20:8,972,004...9,010,241
Ensembl chr20:8,972,004...9,010,241
G
Gnai2
G protein subunit alpha i2
treatment
IMP IEP
RGD
PMID:27912212 PMID:15106810
RGD:13507308 , RGD:13508592
NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979
G
Gnai3
G protein subunit alpha i3
treatment
IEP
RGD
PMID:15106810
RGD:13508592
NCBI chr 2:195,742,765...195,780,720
Ensembl chr 2:195,742,642...195,780,742
G
Gnas
GNAS complex locus
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:9506701 PMID:12215464 PMID:15118671
RGD:1580404 , RGD:1331525
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
G
Gnb3
G protein subunit beta 3
susceptibility no_association
ISO
DNA:SNP:cds:825C>T (human) CTD Direct Evidence: marker/mechanism DNA:SNP:cds: 825C>T (human) DNA:polymorphism: :multiple (human)
CTD RGD
PMID:15961981 PMID:16141801 PMID:10526907 PMID:11230982 PMID:16908025
RGD:1580410 , RGD:1580408 , RGD:2313206
NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173
G
Gnrh1
gonadotropin releasing hormone 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6350720
NCBI chr15:41,972,482...41,976,690
Ensembl chr15:41,972,905...41,973,581 Ensembl chr15:41,972,905...41,973,581
G
Gp1ba
glycoprotein Ib platelet subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22352330
NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
G
Gpx1
glutathione peroxidase 1
treatment
ISO IEP IDA
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 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
G
Gpx3
glutathione peroxidase 3
treatment susceptibility
IEP ISO
DNA:SNP: : rs3828599 (human) DNA:SNP: :rs3828599 (human)
RGD
PMID:23528973 PMID:21933611 PMID:32034489
RGD:401793732 , RGD:401827166 , RGD:401827127
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
G
Grk2
G protein-coupled receptor kinase 2
treatment
IEP ISO
protein:increased expression:lymphocyte, vascular associated smooth muscle cell CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11901213 PMID:10642272 PMID:23913704
RGD:1625788 , RGD:13792716
NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582
G
Grk3
G protein-coupled receptor kinase 3
IEP
mRNA:increased expression:heart left ventricle, kidney (rat)
RGD
PMID:26248277
RGD:11535540
NCBI chr12:43,624,778...43,735,375
Ensembl chr12:43,624,897...43,731,262
G
Grk5
G protein-coupled receptor kinase 5
IEP
mRNA:increased expression:heart left ventricle, kidney (rat)
RGD
PMID:26248277
RGD:11535540
NCBI chr 1:260,028,269...260,223,699
Ensembl chr 1:260,028,242...260,218,701
G
Gsk3b
glycogen synthase kinase 3 beta
treatment
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22982863 PMID:22982863
RGD:10045670
NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646
G
Gsr
glutathione-disulfide reductase
treatment
ISO IEP
RGD
PMID:17198913 PMID:23528973
RGD:1600704 , RGD:401793732
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
G
Gsta5
glutathione S-transferase alpha 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22228705
NCBI chr 8:79,105,561...79,117,472
Ensembl chr 8:79,105,661...79,117,472
G
Gstm1
glutathione S-transferase mu 1
IEP
mRNA:decreased expression:kidney (rat)
RGD
PMID:15699453
RGD:7495838
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
G
Gstm2
glutathione S-transferase mu 2
treatment
IEP
mRNA:decreased expression:kidney (rat)
RGD
PMID:18008142 PMID:23528973 PMID:12624007
RGD:2302178 , RGD:401793732 , RGD:631154
NCBI chr 2:195,624,015...195,628,774
Ensembl chr 2:195,544,426...195,628,961
G
Gstm3
glutathione S-transferase mu 3
treatment
IEP
RGD
PMID:23528973
RGD:401793732
NCBI chr 2:195,590,450...195,612,578
Ensembl chr 2:195,607,289...195,612,475
G
Gstp1
glutathione S-transferase pi 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24915237
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
G
Gstt1
glutathione S-transferase theta 1
ISO
associated with scleroderma, systemic;DNA:deletion: : CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22228705 PMID:11477481 PMID:32034489
RGD:5490587 , RGD:401827127
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
G
Gstt2
glutathione S-transferase theta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22228705
NCBI chr20:12,819,617...12,823,288
Ensembl chr20:12,819,170...12,823,288
G
Gucy1a1
guanylate cyclase 1 soluble subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18339647
NCBI chr 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671
G
H2ax
H2A.X variant histone
treatment
IDA
RGD
PMID:24239235
RGD:8693672
NCBI chr 8:44,671,907...44,673,262
Ensembl chr 8:44,671,786...44,673,239
G
Havcr1
hepatitis A virus cellular receptor 1
IEP
protein:increased expression:urine
RGD
PMID:23085980
RGD:7245484
NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
G
Hdac6
histone deacetylase 6
IEP
protein:increased expression, activity:heart:
RGD
PMID:23868068
RGD:9681716
NCBI chr X:14,550,645...14,572,445
Ensembl chr X:14,551,044...14,572,441
G
Hdac8
histone deacetylase 8
IEP
protein:decreased expression:heart (mouse, rat)
RGD
PMID:28567090
RGD:13208602
NCBI chr X:67,385,288...67,593,014
Ensembl chr X:67,385,289...67,592,923
G
Hgf
hepatocyte growth factor
susceptibility
ISO
DNA:polymorphism:intron13:C/A
RGD
PMID:15127882 PMID:15127882
RGD:1642064 , RGD:1642064
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
G
Hif1a
hypoxia inducible factor 1 subunit alpha
ISO IEP
Hypertension, Pregnancy-Induced;mRNA, protein:increased expression:placenta CTD Direct Evidence: therapeutic associated with Hypercholesterolemia;protein:increased expression:aorta protein:increased expression:brain
CTD RGD
PMID:22349312 PMID:15862159 PMID:11882589 PMID:16955051
RGD:1626322 , RGD:1626330 , RGD:1626317
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
G
Hk2
hexokinase 2
treatment
IEP
RGD
PMID:31572179
RGD:329956417
NCBI chr 4:115,234,509...115,283,530
Ensembl chr 4:115,234,509...115,283,530
G
Hmgb1
high mobility group box 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32147540
NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
G
Hmox1
heme oxygenase 1
susceptibility treatment
ISO IDA
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 chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
G
Hp
haptoglobin
susceptibility onset
ISO IEP
DNA:polymorphism CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16597321 PMID:7606649 PMID:23401751 PMID:8228210
RGD:1626351 , RGD:7241867 , RGD:1626352
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
G
Hrh2
histamine receptor H 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30310171
NCBI chr17:10,366,004...10,407,791
Ensembl chr17:10,368,298...10,407,631
G
Hrh3
histamine receptor H3
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:9050021 PMID:9050021
RGD:1626409
NCBI chr 3:167,191,551...167,196,642
Ensembl chr 3:167,191,558...167,196,642
G
Hsd11b1
hydroxysteroid 11-beta dehydrogenase 1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP:5'utr: (rs846910) (human)
CTD RGD
PMID:9683905 PMID:15199296 PMID:21786805 PMID:15452033
RGD:329902060
NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
G
Hsd11b2
hydroxysteroid 11-beta dehydrogenase 2
IEP IMP ISO
associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:kidney CTD Direct Evidence: marker/mechanism apparent mineralocorticoid excess syndrome, OMIM:218030
CTD RGD
PMID:7670488 PMID:9683905 PMID:9707624 PMID:11082157 PMID:10792625 PMID:26077568 PMID:9683587 More...
RGD:2308925 , RGD:13800514 , RGD:1625078
NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
G
Hsd11b2em1Jmul
hydroxysteroid 11-beta dehydrogenase 2; ZFN induced mutant1, Jmul
IMP
RGD
PMID:26077568
RGD:13800514
G
Hsd17b4
hydroxysteroid (17-beta) dehydrogenase 4
IEP
mRNA:decreased expression:renal cortex (rat)
RGD
PMID:18430809
RGD:2292646
NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952
G
Hsd3b1
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
susceptibility
IEP ISO
mRNA:decreased expression:ovary (rat) DNA:polymorphism:exon
RGD
PMID:19228890 PMID:12054649
RGD:4761326 , RGD:1626438
NCBI chr 2:186,169,864...186,175,984
Ensembl chr 2:186,169,863...186,175,999
G
Hsd3b2
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
IEP
mRNA:increased expression:hypothalamus (rat)
RGD
PMID:16116051
RGD:1599701
NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
G
Hspa8
heat shock protein family A (Hsp70) member 8
ISO
mRNA: increased expression: leukocyte
RGD
PMID:17341625
RGD:6480224
NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259
G
Hspd1
heat shock protein family D (Hsp60) member 1
IEP
mRNA:increased expression:brain, blood vessel
RGD
PMID:15729290 PMID:18948349
RGD:1624213 , RGD:10402862
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
G
Hspg2
heparan sulfate proteoglycan 2
IEP
mRNA:increased expression:aorta
RGD
PMID:8225534
RGD:1624258
NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594
G
Htr1b
5-hydroxytryptamine receptor 1B
IEP
protein:increased expression:aorta
RGD
PMID:11882579
RGD:1626447
NCBI chr 8:82,513,572...82,534,670
Ensembl chr 8:82,517,360...82,534,549
G
Htr2a
5-hydroxytryptamine receptor 2A
susceptibility no_association
ISO
DNA:polymorphism: :102T>C DNA:polymorphism: :g.102T>C
RGD GAD
PMID:11378836 PMID:15118671 PMID:15659047
RGD:1624375 , RGD:1331525 , RGD:1624371
NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
G
Htr2b
5-hydroxytryptamine receptor 2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8627522
NCBI chr 9:86,735,793...86,756,638
Ensembl chr 9:86,742,102...86,755,108
G
Htra1
HtrA serine peptidase 1
ISO
associated with Macular Degeneration; DNA:snp:cds:g.102C>T (rs1049331) (human)
RGD
PMID:21682878
RGD:7394697
NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379
G
Icam1
intercellular adhesion molecule 1
ISO
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 chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
G
Ier3
immediate early response 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20713914
NCBI chr20:2,928,378...2,929,582
Ensembl chr20:2,928,378...2,929,583
G
Igf1
insulin-like growth factor 1
severity
ISO IEP IAGP
mRNA:increased expression:aorta (rat) CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:19502719 PMID:22228705 PMID:16431135 PMID:8418983 PMID:15996002
RGD:1598427 , RGD:12904968 , RGD:1580474
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
G
Igf1r
insulin-like growth factor 1 receptor
IEP
protein:increased expression:aorta:
RGD
PMID:21854769
RGD:10046007
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
G
Igfbp2
insulin-like growth factor binding protein 2
IEP
mRNA, protein:decreased expression:liver, plasma
RGD
PMID:9396554
RGD:1626482
NCBI chr 9:74,415,574...74,442,945
Ensembl chr 9:74,415,546...74,442,937
G
Ikbkb
inhibitor of nuclear factor kappa B kinase subunit beta
treatment
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:27659729 PMID:32147540 PMID:19246475
RGD:7495780
NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250
G
Il10
interleukin 10
IEP
RGD
PMID:19398662
RGD:2311047
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il17a
interleukin 17A
ISO
protein:increased expression:blood serum (human)
RGD
PMID:26502942
RGD:329955577
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
G
Il1b
interleukin 1 beta
IEP ISO IDA
mRNA, protein:increased expression:aorta, plasma CTD Direct Evidence: marker/mechanism associated with Obesity;protein:increased expression:plasma
CTD RGD
PMID:27292124 PMID:27659729 PMID:27847271 PMID:32147540 PMID:32165127 PMID:15894892 PMID:21173343 PMID:15990729 More...
RGD:1626635 , RGD:7175338 , RGD:1626638
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il1rn
interleukin 1 receptor antagonist
susceptibility
IDA ISO
DNA:polymorphisms
RGD
PMID:11585563 PMID:11840488
RGD:1626668 , RGD:1626667
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
G
Il6
interleukin 6
susceptibility
ISO
associated with end stage renal disease; DNA:polymorphisms:promoter: -174G>C (human) protein:increased expression:blood serum (human) CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human)
CTD RGD
PMID:27292124 PMID:27659729 PMID:27847271 PMID:32147540 PMID:32165127 PMID:12846758 PMID:26502942 PMID:19043252 More...
RGD:1580485 , RGD:329955577 , RGD:2307283
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Il6r
interleukin 6 receptor
severity
ISO
Hypertension, Pregnancy-Induced;protein:increased expression:serum
RGD
PMID:11778537
RGD:1625432
NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
G
Il6st
interleukin 6 cytokine family signal transducer
severity
ISO
Hypertension, Pregnancy-Induced;protein:increased expression:serum
RGD
PMID:11778537
RGD:1625432
NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
G
Inppl1
inositol polyphosphate phosphatase-like 1
ISO
DNA:SNPs: :rs2276047,snp8,rs9886(human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15220217 PMID:15220217
RGD:1626127
NCBI chr 1:156,183,043...156,197,500
Ensembl chr 1:156,183,059...156,197,500
G
Ins2
insulin 2
IDA ISO
CTD Direct Evidence: marker/mechanism CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:9719048 PMID:18360027 PMID:29211853 PMID:9095092
RGD:6902896
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
G
Invs
inversin
ISO
associated with nephronophthisis 2;
RGD
PMID:19177160
RGD:155791686
NCBI chr 5:62,610,916...62,763,813
Ensembl chr 5:62,610,968...62,763,350
G
Itga9
integrin subunit alpha 9
susceptibility
ISO
DNA:SNP: :rs155524(human)
RGD
PMID:20479155
RGD:13602005
NCBI chr 8:118,307,424...118,615,527
Ensembl chr 8:118,307,381...118,613,754
G
Itgav
integrin subunit alpha V
IEP
protein:increased expression:artery
RGD
PMID:16380536
RGD:1627642
NCBI chr 3:68,838,514...68,926,653
Ensembl chr 3:68,838,189...68,926,639
G
Itm2b
integral membrane protein 2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22228705
NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
G
Jun
Jun proto-oncogene, AP-1 transcription factor subunit
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24039778 PMID:11358932
RGD:10047414
NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
G
Kcna3
potassium voltage-gated channel subfamily A member 3
ISO
protein:increased activity:T cell (human)
RGD
PMID:24524604
RGD:401794566
NCBI chr 2:194,632,106...194,634,059
Ensembl chr 2:194,632,196...194,650,138
G
Kcna5
potassium voltage-gated channel subfamily A member 5
IEP
mRNA:increased expression:heart
RGD
PMID:11358947
RGD:1627659
NCBI chr 4:159,354,689...159,358,173
Ensembl chr 4:159,350,097...159,357,697
G
Kcnab1
potassium voltage-gated channel subfamily A regulatory beta subunit 1
IEP
mRNA:increased expression:aorta, arteries (rat)
RGD
PMID:11358947
RGD:1627659
NCBI chr 2:149,137,025...149,603,540
Ensembl chr 2:149,137,041...149,603,534
G
Kcnj1
potassium inwardly-rectifying channel, subfamily J, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22228705
NCBI chr 8:30,779,883...30,808,607
Ensembl chr 8:30,753,617...30,813,796
G
Kcnj11
potassium inwardly-rectifying channel, subfamily J, member 11
IEP
RGD
PMID:15964031
RGD:1598644
NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
G
Kcnj8
potassium inwardly-rectifying channel, subfamily J, member 8
IDA
RGD
PMID:16051697
RGD:1581698
NCBI chr 4:175,508,908...175,515,829
Ensembl chr 4:175,508,912...175,515,603
G
Kcnmb1
potassium calcium-activated channel subfamily M regulatory beta subunit 1
IDA ISO IEP
CTD Direct Evidence: marker/mechanism mRNA, protein:increased expression:aorta, mesenteric artery
CTD RGD
PMID:17700361 PMID:14551242 PMID:16814121 PMID:16293791
RGD:1298970 , RGD:10412046 , RGD:1581718
NCBI chr10:18,557,510...18,614,824
Ensembl chr10:18,557,904...18,565,798
G
Kcnn4
potassium calcium-activated channel subfamily N member 4
ameliorates
ISO IMP
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 chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340
G
Kcnq1
potassium voltage-gated channel subfamily Q member 1
IAGP
DNA:deletion:exon (rat)
RGD
PMID:16368876
RGD:1581602
NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
G
Kcnq1dfk
potassium voltage-gated channel subfamily Q member 1;deafness Kyoto
IAGP
RGD
PMID:16368876
RGD:1581602
G
Kdr
kinase insert domain receptor
treatment
IEP ISO
DNA:polymorphism:cds:p.H472Q(human)
RGD
PMID:15838270 PMID:20630084
RGD:5684418 , RGD:8552374
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Kif6
kinesin family member 6
susceptibility
ISO
DNA:SNP, haplotype: :rs20455 (p.W719R), rs6930913 (human)
RGD
PMID:34961832
RGD:243048456
NCBI chr 9:11,076,203...11,373,205
Ensembl chr 9:11,072,824...11,373,006
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Kl
Klotho
treatment
IDA IEP ISO
mRNA,protein:decreased expression:kidney:
RGD
PMID:10892340 PMID:21051829 PMID:23225045
RGD:1581732 , RGD:10403063 , RGD:10403062
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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Klk1
kallikrein 1
no_association susceptibility
ISO IEP
DNA:polymorphisms CTD Direct Evidence: therapeutic mRNA:decreased expression:kidney
RGD CTD
PMID:14568997 PMID:15905889 PMID:15167446 PMID:15809361
RGD:1641795 , RGD:1581751 , RGD:1358144
NCBI chr 1:94,642,644...94,646,760
Ensembl chr 1:94,642,687...94,646,754
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Klk1b3
kallikrein 1-related peptidase B3
IAGP
RGD
PMID:15809361
RGD:1358144
NCBI chr 1:94,709,105...94,713,308
Ensembl chr 1:94,709,105...94,713,308
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Klk1c12
kallikrein 1-related peptidase C12
ISO
DNA:polymorphisms
RGD
PMID:15905889 PMID:17272402
RGD:1641795 , RGD:1641794
NCBI chr 1:94,378,103...94,382,140
Ensembl chr 1:94,378,054...94,382,176
G
Klkb1
kallikrein B1
ISO
associated with Diabetes Mellitus, Type 1; protein:increased expression:plasma:
RGD
PMID:12716755
RGD:7327151
NCBI chr16:46,958,634...46,982,054
Ensembl chr16:46,958,707...46,982,053
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Kng1
kininogen 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7027322
NCBI chr11:77,812,757...77,835,555
Ensembl chr11:77,812,752...77,835,555
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Kras
KRAS proto-oncogene, GTPase
ISO
RGD
PMID:15864294
RGD:1581757
NCBI chr 4:178,185,418...178,218,484
G
Kynu
kynureninase
IAGP
RGD
PMID:11924719
RGD:631322
NCBI chr 3:27,778,646...27,929,470
Ensembl chr 3:27,778,772...27,929,488
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Ldha
lactate dehydrogenase A
treatment
IEP
RGD
PMID:31572179
RGD:329956417
NCBI chr 1:97,371,823...97,381,247
Ensembl chr 1:97,366,021...97,433,472
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Lep
leptin
ISO IDA
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 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
G
Lepr
leptin receptor
disease_progression
ISO IAGP IMP
DNA:polymorphisms:exons DNA:mutations:cds: : (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22949526 PMID:10999797 PMID:32710530 PMID:27465994
RGD:5129161 , RGD:401960103 , RGD:12911217
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
G
Leprem2Mcwi
leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
disease_progression
IMP
RGD
PMID:27465994
RGD:12911217
G
Lgals3
galectin 3
treatment
IEP
RGD
PMID:23117656
RGD:9685203
NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025
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Lhb
luteinizing hormone subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6350720
NCBI chr 1:95,898,269...95,901,973
Ensembl chr 1:95,900,984...95,901,972 Ensembl chr 1:95,900,984...95,901,972
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Lipe
lipase E, hormone sensitive type
ISO
gestational hypertension;DNA:polymorphism:promoter:-60C>G
RGD
PMID:17318300
RGD:1625026
NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310
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Lipg
lipase G, endothelial type
IDA
RGD
PMID:15914124
RGD:1581875
NCBI chr18:68,514,923...68,536,105
Ensembl chr18:68,514,923...68,536,260
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Lox
lysyl oxidase
ISO IDA
RGD
PMID:8562290 PMID:24127
RGD:1581896 , RGD:1581899
NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477
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Lpl
lipoprotein lipase
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22228705 PMID:16132104
RGD:1580535
NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
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Lrp2
LDL receptor related protein 2
IDA
protein:altered localization:apical plasma membrane
RGD
PMID:10919857
RGD:1641827
NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
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Lta
lymphotoxin alpha
no_association
ISO
RGD
PMID:15533732
RGD:1580415
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Ltf
lactotransferrin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24587916
NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795
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Map1lc3a
microtubule-associated protein 1 light chain 3 alpha
IEP
RGD
PMID:23499735
RGD:11561939
NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670
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Mapk8
mitogen-activated protein kinase 8
IDA
RGD
PMID:15302844
RGD:1582315
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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Mas1
MAS1 proto-oncogene, G protein-coupled receptor
IMP
associated with Sleep Apnea Syndromes
RGD
PMID:21040717
RGD:5129169
NCBI chr 1:47,879,956...47,911,500
Ensembl chr 1:47,880,309...47,911,709
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Mc2r
melanocortin 2 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11082157
NCBI chr18:62,001,980...62,015,567
Ensembl chr18:62,004,948...62,015,488
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Mdh1
malate dehydrogenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22228705
NCBI chr14:95,630,625...95,645,920
Ensembl chr14:95,630,306...95,645,925
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Mfn2
mitofusin 2
treatment
IEP
protein:decreased expression:aorta (rat)
RGD
PMID:27847271 PMID:25464244
RGD:12910764 , RGD:13204764
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
G
Mif
macrophage migration inhibitory factor
IDA
RGD
PMID:19799867
RGD:4890974
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
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Mir145
microRNA 145
ISO
miRNA:increased expression:artery wall (human)
RGD
PMID:23339529
RGD:155260305
NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
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Mir214
microRNA 214
treatment
IMP ISO
RNA:increased expression:kidney
RGD
PMID:30049682 PMID:30049682
RGD:38500245 , RGD:38500245
NCBI chr13:74,588,374...74,588,481
Ensembl chr13:74,588,372...74,588,481
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Mme
membrane metallo-endopeptidase
treatment
IMP
RGD
PMID:12011651
RGD:13801039
NCBI chr 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792
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Mmp1
matrix metallopeptidase 1
ISO
protein:decreased expression:renal glomerulus (human)
RGD
PMID:15363819 PMID:19506087
RGD:1582532 , RGD:2312464
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Mmp2
matrix metallopeptidase 2
IEP ISO
mRNA, protein:increased expression:kidney CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18836702 PMID:17977875 PMID:16840178
RGD:2290351 , RGD:1582612
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp7
matrix metallopeptidase 7
treatment
IMP IEP
RGD
PMID:19398663 PMID:19398663
RGD:9685347 , RGD:9685347
NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902
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Mmp9
matrix metallopeptidase 9
susceptibility
ISO IEP
protein:decreased expression:internal mammary artery CTD Direct Evidence: marker/mechanism associated with Aneurysm, Dissecting;DNA:polymorphism:promoter:-1562C>T
CTD RGD
PMID:21051829 PMID:15363819 PMID:16780738 PMID:16840178 PMID:17977875
RGD:1582532 , RGD:1642029 , RGD:1582612 , RGD:2290351
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mov10
Mov10 RNA helicase
susceptibility
ISO
DNA:SNP: :rs2932538(human)
RGD
PMID:24338417
RGD:13513987
NCBI chr 2:192,292,041...192,315,142
Ensembl chr 2:192,293,470...192,315,083
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Moxd2
monooxygenase, DBH-like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3814904
NCBI chr 4:69,724,693...69,733,188
Ensembl chr 4:69,724,239...69,733,299
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Msx2
msh homeobox 2
IEP
RGD
PMID:18270471
RGD:5132616
NCBI chr17:11,097,214...11,102,879
Ensembl chr17:11,097,103...11,102,879
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Mtor
mechanistic target of rapamycin kinase
IDA ISO
protein:increased serine phosphorylation:kidney CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19289642 PMID:23323219
RGD:10041025
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
G
Mtpn
myotrophin
IEP IDA
RGD
PMID:12419325 PMID:12031792
RGD:632799 , RGD:1581046
NCBI chr 4:64,159,273...64,186,686
Ensembl chr 4:64,157,641...64,186,724
G
Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
ISO
RGD
PMID:15148588
RGD:1581050
NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
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Mttp
microsomal triglyceride transfer protein
onset
ISO
DNA:polymorphism:promoter:-493G>T
RGD
PMID:16328015
RGD:1625485
NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239
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Mybph
myosin binding protein H
IAGP
DNA:missense mutations:cds:p.I?T, p.R?K (rat)
RGD
PMID:23460292
RGD:12802369
NCBI chr13:45,653,156...45,660,893
Ensembl chr13:45,653,234...45,660,893
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Myd88
MYD88, innate immune signal transduction adaptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27292124
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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Myh7
myosin heavy chain 7
IEP ISO
protein:decreased expression:heart left ventricle, arteriole CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:32147540 PMID:9686760
RGD:9835388
NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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Myo6
myosin VI
IDA
protein:altered localization:renal proximal tubule, microvillus
RGD
PMID:16107581
RGD:2314963
NCBI chr 8:81,087,157...81,242,022
Ensembl chr 8:81,087,139...81,239,292
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Myod1
myogenic differentiation 1
IEP
mRNA:decreased expression:gastrocnemius
RGD
PMID:22076133
RGD:9686076
NCBI chr 1:96,884,864...96,887,574
Ensembl chr 1:96,884,948...96,887,554
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Ncf1
neutrophil cytosolic factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16331104 PMID:17324946 PMID:19018797 PMID:32165127
NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646
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Ncf2
neutrophil cytosolic factor 2
IEP
protein:increased expression:heart left ventricle
RGD
PMID:19307699
RGD:2314430
NCBI chr13:64,955,622...64,986,144
Ensembl chr13:64,955,503...64,986,277
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Nedd4l
NEDD4 like E3 ubiquitin protein ligase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18524855 PMID:23348737
NCBI chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137
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Nfe2l2
NFE2 like bZIP transcription factor 2
treatment
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:32165127 PMID:23775684 PMID:23528973
RGD:10412717 , RGD:401793732
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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Nfkbia
NFKB inhibitor alpha
treatment
IEP
RGD
PMID:19246475
RGD:7495780
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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Ngf
nerve growth factor
IEP
RGD
PMID:10797303
RGD:5144109
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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Ngfr
nerve growth factor receptor
IAGP
DNA,protein:missense mutation:CDS:c.28G>A, p.A10T (rat strains: SHR/Izm, SHRSP/Izm, WKHT)
RGD
PMID:8762194
RGD:5508800
NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
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Nherf1
NHERF family PDZ scaffold protein 1
IEP
RGD
PMID:15311100
RGD:1580741
NCBI chr10:100,403,189...100,420,290
Ensembl chr10:100,403,069...100,420,598
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Nherf2
NHERF family PDZ scaffold protein 2
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22228705 PMID:15311100
RGD:1580741
NCBI chr10:13,662,461...13,672,975
Ensembl chr10:13,662,461...13,673,049
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Nisch
nischarin
IMP
RGD
PMID:12021582
RGD:1581128
NCBI chr16:6,364,370...6,400,675
Ensembl chr16:6,364,374...6,400,668
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Nos1
nitric oxide synthase 1
treatment
IEP IDA IMP
mRNA:decreased expression:bladder, penis
RGD
PMID:17574276 PMID:31489946 PMID:23201071 PMID:15913838 PMID:16093913 PMID:15775788 PMID:20494920 More...
RGD:1642127 , RGD:401793758 , RGD:7257668 , RGD:1581142 , RGD:1581141 , RGD:1581143 , RGD:5132600
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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Nos2
nitric oxide synthase 2
IEP ISO
protein:increased expression, increased activity:kidney CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18605955 PMID:25101153 PMID:27292124 PMID:15773227 PMID:11702222
RGD:1580264 , RGD:1298023
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nos3
nitric oxide synthase 3
treatment no_association
IEP IDA ISO
associated with Pregnancy Complications CTD Direct Evidence: marker/mechanism|therapeutic DNA:duplication, snp:intron, cds:IVS4?-?+27, p.E298D (human) DNA:snp:cds:p.E298D (human) protein:decreased phosphorylation:brain
CTD 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 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Nox1
NADPH oxidase 1
ameliorates
ISO
RGD
PMID:16246966
RGD:329955580
NCBI chr X:97,279,058...97,332,291
Ensembl chr X:97,279,056...97,302,236
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Nox4
NADPH oxidase 4
IEP ISO IMP
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 chr 1:140,900,886...141,078,844
Ensembl chr 1:140,901,097...141,077,406
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Nphp3
nephrocystin 3
ISO
associated with nephronophthisis;
RGD
PMID:19177160
RGD:155791686
NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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Nppa
natriuretic peptide A
IEP ISS ISO
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 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
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Nppb
natriuretic peptide B
treatment susceptibility
IEP ISO IDA
CTD Direct Evidence: marker/mechanism|therapeutic DNA:repeats
CTD RGD
PMID:9194512 PMID:19219041 PMID:24039778 PMID:30310171 PMID:32147540 PMID:11897768 PMID:21403100 PMID:17554401 More...
RGD:70484 , RGD:5685657 , RGD:1642191
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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Nppc
natriuretic peptide C
severity
ISO
associated with Pregnancy Complications;protein:increased expression:plasma
RGD
PMID:11775888 PMID:12452325
RGD:1642292 , RGD:1580150
NCBI chr 9:87,320,051...87,324,251
Ensembl chr 9:87,320,051...87,324,251
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Npr1
natriuretic peptide receptor 1
IAGP ISO
DNA:repeat:promoter: (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20881240 PMID:12511524
RGD:628585
NCBI chr 2:175,934,181...175,950,118
Ensembl chr 2:175,934,181...175,949,505
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Npr3
natriuretic peptide receptor 3
ISO
DNA:snp:promoter:g.-55C>A (human)
RGD
PMID:12872042
RGD:1580175
NCBI chr 2:60,865,483...60,933,432
Ensembl chr 2:60,870,594...60,932,955
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Nptn
neuroplastin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22228705
NCBI chr 8:58,996,873...59,063,402
Ensembl chr 8:58,996,887...59,063,401
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Npy
neuropeptide Y
IMP IEP ISO
DNA:missense mutation:cds:p.L7P (human)
RGD
PMID:15699473 PMID:18835922 PMID:11689216
RGD:1357410 , RGD:10448968 , RGD:1580177
NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
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Npy1r
neuropeptide Y receptor Y1
IMP
RGD
PMID:15699473
RGD:1357410
NCBI chr16:23,037,788...23,047,330
Ensembl chr16:23,037,789...23,046,759
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Nqo1
NAD(P)H quinone dehydrogenase 1
treatment susceptibility
IDA ISO
DNA:SNP,haplotype:: p.P187S (rs1800566) (human)
RGD
PMID:25529925 PMID:21502369
RGD:401827819 , RGD:11035215
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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Nr2f2
nuclear receptor subfamily 2, group F, member 2
IMP
RGD
PMID:25687237
RGD:10401852
NCBI chr 1:124,008,282...124,022,521
Ensembl chr 1:124,009,181...124,022,031
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Nr2f2em1Mcwi
nuclear receptor subfamily 2, group F, member 2; zinc finger nuclease induced mutant 1, Medical College of Wisconsin
IMP
RGD
PMID:25687237
RGD:10401852
G
Nr3c1
nuclear receptor subfamily 3, group C, member 1
IMP ISO
associated with fetal nutrition disorder CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18434569 PMID:20659135 PMID:20674672 PMID:20659135
RGD:4892208 , RGD:7174714
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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Nudt1
nudix hydrolase 1
IEP
RGD
PMID:17280880
RGD:10449166
NCBI chr12:14,302,514...14,309,559
Ensembl chr12:14,302,694...14,305,826
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Ogg1
8-oxoguanine DNA glycosylase
susceptibility
ISO
DNA:SNP,haplotype::p.S326C (rs1052133) (human)
RGD
PMID:25529925
RGD:401827819
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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Olr1
oxidized low density lipoprotein receptor 1
IEP ISO
mRNA:increased expression:aorta (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22352330 PMID:9494115
RGD:633385
NCBI chr 4:162,926,436...162,949,057
Ensembl chr 4:162,926,439...162,948,523
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Opa1
OPA1, mitochondrial dynamin like GTPase
IEP
protein:increased expression:heart left ventricle (rat)
RGD
PMID:24388463
RGD:7800726
NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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Orai1
ORAI calcium release-activated calcium modulator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19897708
NCBI chr12:33,533,151...33,548,361
Ensembl chr12:33,534,344...33,548,405
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Oxsr1
oxidative stress responsive kinase 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:22949526
NCBI chr 8:118,972,754...119,062,102
Ensembl chr 8:118,972,754...119,062,027
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Oxt
oxytocin/neurophysin I prepropeptide
IMP ISO IEP
CTD Direct Evidence: therapeutic mRNA:decreased expression:paraventricular hypothalamic nucleus
CTD RGD
PMID:9334988 PMID:18562099 PMID:18562099 PMID:16157794
RGD:2304105 , RGD:2304174
NCBI chr 3:117,782,650...117,783,490
Ensembl chr 3:117,782,650...117,783,490
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Oxtr
oxytocin receptor
IEP
mRNA:decreased expression:brainstem
RGD
PMID:16157794
RGD:2304174
NCBI chr 4:145,598,549...145,614,674
Ensembl chr 4:145,599,561...145,614,674
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Pappa
pappalysin
ISO
associated with Pregnancy Complications, Cardiovascular;protein:decreased expression:serum
RGD
PMID:12224070
RGD:1642331
NCBI chr 5:78,497,660...78,735,873
Ensembl chr 5:78,498,300...78,730,666
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Pdgfb
platelet derived growth factor subunit B
IEP
RGD
PMID:8869081
RGD:10449484
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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Pdgfra
platelet derived growth factor receptor alpha
IEP
RGD
PMID:1657776
RGD:11080972
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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Pdgfrb
platelet derived growth factor receptor beta
IEP
protein:increased tyrosine phosphorylation:glomerulus
RGD
PMID:12047046 PMID:1657776
RGD:2292214 , RGD:11080972
NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843
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Pgf
placental growth factor
ISO
associated with Pregnancy Complications, Cardiovascular;mRNA:decreased expression:placenta
RGD
PMID:12808329
RGD:1642387
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
IEP IMP
protein:decreased expression:ventricular myocyte (rat)
RGD
PMID:18300869 PMID:19015400
RGD:4108492 , RGD:4108483
NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
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Pin1
peptidylprolyl cis/trans isomerase, NIMA-interacting 1
ISO
RGD
PMID:21810655
RGD:8693428
NCBI chr 8:19,189,408...19,200,785
Ensembl chr 8:19,189,373...19,200,785
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Pkd1
polycystin 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Hypertension
ClinVar
PMID:11115377 PMID:12482949 PMID:16430766 PMID:17574468 PMID:17582161 PMID:22508176 PMID:23064367 PMID:23431072 PMID:23760289 PMID:24694054 PMID:25333066 PMID:25741868 PMID:26467025 PMID:26632257 PMID:26950445 PMID:27499327 PMID:29801666 PMID:30333007 PMID:31056860 PMID:31738409 PMID:32203225 PMID:32381729 PMID:33532864 More...
NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
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Pkm
pyruvate kinase M1/2
treatment
IEP
RGD
PMID:31572179
RGD:329956417
NCBI chr 8:60,057,629...60,079,600
Ensembl chr 8:60,057,402...60,079,599
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Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22352330
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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Plcd1
phospholipase C, delta 1
IEP IDA
protein:increased expression:aorta, arteriole, glomerulus protein:increased activity:aorta
RGD
PMID:17198910 PMID:1313006
RGD:2300421 , RGD:2300423
NCBI chr 8:118,795,196...118,818,186
Ensembl chr 8:118,795,201...118,818,186
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Plekha7
pleckstrin homology domain containing A7
ameliorates
IMP
RGD
PMID:25136115
RGD:11079199
NCBI chr 1:170,364,524...170,547,843
Ensembl chr 1:170,365,135...170,547,775
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Plekha7em4Mcwi
pleckstrin homology domain containing, family A member 7; zinc finger nuclease induced mutant 4, Medical College of Wisconsin
ameliorates
IMP
RGD
PMID:25136115
RGD:11079199
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Plg
plasminogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6383834
NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786
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Pnmt
phenylethanolamine-N-methyltransferase
no_association
ISO IEP
DNA:snps:5' utr:g.-390G>A, g.-184G>A rs876493 (human) protein:decreased activity:adrenal gland (rat) DNA:snp:5' utr:g.-390G>A (human)
RGD
PMID:17645789 PMID:20378607 PMID:14553966
RGD:5130172 , RGD:5130152 , RGD:5130164
NCBI chr10:83,383,019...83,386,557
Ensembl chr10:83,384,923...83,386,556
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:76749 PMID:187612 PMID:216942 PMID:323586 PMID:1316127 PMID:1321011 PMID:1321309 PMID:1327015 PMID:1330390 PMID:1334993 PMID:1649024 PMID:1664305 PMID:2157753 PMID:2455169 PMID:2551692 PMID:2821097 PMID:2822310 PMID:2849322 PMID:2992854 PMID:3001556 PMID:3015460 PMID:4367732 PMID:6088243 PMID:6089027 PMID:6097376 PMID:6100240 PMID:6135010 PMID:6143199 PMID:6254450 PMID:6274577 PMID:6279500 PMID:6283272 PMID:8136112 PMID:8261660 PMID:8279378 PMID:8713685 PMID:8800598 PMID:9056691 PMID:9535146 PMID:10100081 PMID:10474778 PMID:10513829 PMID:10658937 PMID:11071300 PMID:11071304 PMID:11132610 PMID:11193135 PMID:11518849 PMID:11560123 PMID:11703388 PMID:12872045 PMID:12887135 PMID:15110907 PMID:15132301 PMID:15554453 PMID:16053986 PMID:16243970 PMID:16546835 PMID:16620303 PMID:17324744 PMID:17954371 PMID:17994356 PMID:18067589 PMID:18487447 PMID:19153526 PMID:19458537 PMID:20186125 PMID:20659135 More...
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Pon1
paraoxonase 1
ISO
DNA:SNP: :rs705379 (human)
RGD
PMID:32034489
RGD:401827127
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Postn
periostin
IEP
associated with Renal Insufficiency, Chronic; protein:increased expression:left ventricle:
RGD
PMID:21712488
RGD:10041050
NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099
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Ppara
peroxisome proliferator activated receptor alpha
treatment
IEP ISO IMP
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 chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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Pparg
peroxisome proliferator-activated receptor gamma
IMP ISO IEP IDA
CTD Direct Evidence: marker/mechanism|therapeutic protein:decreased expression:rostral ventrolateral medulla (rat) human gene in a mouse model
CTD RGD
PMID:15199296 PMID:19666838 PMID:27292124 PMID:18437150 PMID:20404217 PMID:18316027 PMID:12923396 PMID:15970297 More...
RGD:2301888 , RGD:7175297 , RGD:2301864 , RGD:1580690 , RGD:1580684
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Ppbp
pro-platelet basic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6192689 PMID:15513305
NCBI chr14:17,302,326...17,303,130
Ensembl chr14:17,302,326...17,303,130
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Ppia
peptidylprolyl isomerase A
ISO
mRNA:increased expression:alveolar system (human)
RGD
PMID:32496587
RGD:150383342
NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601
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Prkag2
protein kinase AMP-activated non-catalytic subunit gamma 2
ISO
ClinVar Annotator: match by term: Hypertension
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:10,010,890...10,252,155
Ensembl chr 4:10,010,890...10,252,142
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Prkar1b
protein kinase cAMP-dependent type I regulatory subunit beta
ISO
RGD
PMID:11161799
RGD:619653
NCBI chr12:15,492,233...15,624,942
Ensembl chr12:15,511,801...15,624,942
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Prkca
protein kinase C, alpha
IAGP
RGD
PMID:15792354
RGD:1581271
NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012
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Prkcb
protein kinase C, beta
IDA
RGD
PMID:15804434
RGD:1625513
NCBI chr 1:176,832,173...177,163,539
Ensembl chr 1:176,832,226...177,163,536
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Prkcd
protein kinase C, delta
IEP ISO IAGP
protein:increased expression:heart, fibroblast CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23973649 PMID:10756122 PMID:15792354
RGD:1642534 , RGD:1581271
NCBI chr16:5,769,217...5,799,380
Ensembl chr16:5,769,215...5,799,352
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Prkce
protein kinase C, epsilon
IAGP
RGD
PMID:15792354
RGD:1581271
NCBI chr 6:7,965,048...8,451,966
Ensembl chr 6:7,965,048...8,451,719
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Prkg1
protein kinase cGMP-dependent 1
IEP
mRNA, protein:splice variant, alternative form:basilar artery
RGD
PMID:14512447
RGD:7775067
NCBI chr 1:228,409,605...229,638,794
Ensembl chr 1:228,408,947...229,639,080
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Prlhr
prolactin releasing hormone receptor
ISO
DNA:SNP, missense mutation:promoter, cds:-62G>A, 914C>T (p.P305L) (human)
RGD
PMID:14691196
RGD:1641832
NCBI chr 1:259,606,704...259,608,391
Ensembl chr 1:259,606,704...259,608,391
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Proc
protein C, inactivator of coagulation factors Va and VIIIa
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22352330
NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15646324
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Ptgds
prostaglandin D2 synthase
ISO
protein:increased expression:serum, urine
RGD
PMID:11882588
RGD:1642584
NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833
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Ptgis
prostaglandin I2 synthase
susceptibility
ISO IEP
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 chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451
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Ptgr1
prostaglandin reductase 1
IEP
mRNA:decreased expression:rostral ventrolateral medulla, paraventricular nucleus of hypothalamus, nucleus of solitary tract (rat)
RGD
PMID:23172924
RGD:401959217
NCBI chr 5:73,784,000...73,802,624
Ensembl chr 5:73,784,009...73,802,666
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Ptgs2
prostaglandin-endoperoxide synthase 2
IAGP ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:14757778 PMID:15834289 PMID:20667508 PMID:22349312 PMID:15775781 PMID:16467505 More...
RGD:1581285 , RGD:1580671
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Pth
parathyroid hormone
ISO
protein:increased expression:serum (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:1930854 PMID:23460043
RGD:7242420
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Ptk2
protein tyrosine kinase 2
IAGP IEP
protein:increased expression:aorta
RGD
PMID:12732587 PMID:21068519
RGD:729831 , RGD:10041072
NCBI chr 7:105,126,725...105,331,848
Ensembl chr 7:105,126,728...105,331,783
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Ptk2b
protein tyrosine kinase 2 beta
susceptibility
ISO IEP
DNA:polymorphism:promoter:-22A>G protein:increased expression:aorta
RGD
PMID:18075463 PMID:21068519
RGD:2292575 , RGD:10041072
NCBI chr15:40,360,722...40,481,235
Ensembl chr15:40,360,723...40,481,282
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Ptpn1
protein tyrosine phosphatase, non-receptor type 1
treatment
ISO IEP
CTD Direct Evidence: therapeutic associated with obesity
CTD RGD
PMID:28899902 PMID:29859467 PMID:29562733
RGD:401976391 , RGD:401976390
NCBI chr 3:156,638,811...156,687,503
Ensembl chr 3:156,638,769...156,687,504
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Ptprc
protein tyrosine phosphatase, receptor type, C
ameliorates
IEP
associated with Cardiac Fibrosis
RGD
PMID:25715999
RGD:401794570
NCBI chr13:49,596,193...49,708,283
Ensembl chr13:49,596,193...49,708,692
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Ptprd
protein tyrosine phosphatase, receptor type, D
treatment
ISO
DNA:SNP:enhancer: (rs10739150) (human)
RGD
PMID:26425837
RGD:11085524
NCBI chr 5:90,046,993...90,698,977 NCBI chr 5:91,122,354...91,641,754
Ensembl chr 5:90,048,966...92,369,396
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Ptprj
protein tyrosine phosphatase, receptor type, J
IAGP
RGD
PMID:15710778
RGD:1357414
NCBI chr 3:76,405,917...76,561,842
Ensembl chr 3:76,405,927...76,562,260
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Ptpru
protein tyrosine phosphatase, receptor type, U
susceptibility
ISO
RGD
PMID:11086029
RGD:1642652
NCBI chr 5:143,950,542...144,024,791
Ensembl chr 5:143,950,965...144,024,768
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Qdpr
quinoid dihydropteridine reductase
IEP
protein:decreased expression:aorta smooth muscle (rat)
RGD
PMID:19743417
RGD:5128580
NCBI chr14:65,670,251...65,683,853
Ensembl chr14:65,670,131...65,683,854
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Rad51
RAD51 recombinase
treatment
IDA
RGD
PMID:24239235
RGD:8693672
NCBI chr 3:106,099,753...106,125,038
Ensembl chr 3:106,100,381...106,125,035
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Rag1
recombination activating 1
IMP
RGD
PMID:23364523
RGD:7207429
NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
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Ralbp1
ralA binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23821548
NCBI chr 9:105,456,425...105,493,235
Ensembl chr 9:105,456,425...105,492,707
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Ramp2
receptor activity modifying protein 2
susceptibility
ISO IEP
DNA:SNP:intron associated with Pregnancy Complications mRNA, protein:increased expression:heart myocardium, aorta
RGD
PMID:15797661 PMID:11600589 PMID:16450076
RGD:1642679 , RGD:1642682 , RGD:1625300
NCBI chr10:86,187,366...86,190,692
Ensembl chr10:86,188,812...86,231,829
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Rasgrp3
RAS guanyl releasing protein 3
ISO
RGD
PMID:19421330
RGD:2314812
NCBI chr 6:19,895,361...19,993,945
Ensembl chr 6:19,895,390...19,958,578
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Rbfox2
RNA binding fox-1 homolog 2
IEP
mRNA, protein:splice variant, increased expression:mesenteric artery (rat)
RGD
PMID:28993448
RGD:329848961
NCBI chr 7:108,810,627...109,054,420
Ensembl chr 7:108,810,628...109,054,691
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Rbp4
retinol binding protein 4
sexual_dimorphism ameliorates
ISO IEP
protein:increased expression:blood serum (human)
RGD
PMID:20798476 PMID:21365528 PMID:25911613
RGD:329845596 , RGD:329853304 , RGD:329845871
NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
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Reg3g
regenerating family member 3 gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27798352
NCBI chr 4:110,922,805...110,927,803
Ensembl chr 4:110,924,168...110,926,723
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Rela
RELA proto-oncogene, NF-kB subunit
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19018797 PMID:27659729 PMID:32147540 PMID:16840655
RGD:2298761
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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Ren
renin
treatment
IDA IEP ISO
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:16467505 PMID:30127255 PMID:22493079 PMID:22681982 PMID:16138564 More...
RGD:1580671 , RGD:401793709 , RGD:6892655 , RGD:6784501 , RGD:1580697
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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Resp18
regulated endocrine-specific protein 18
IMP
RGD
PMID:29570433
RGD:14348960
NCBI chr 9:76,765,179...76,771,824
Ensembl chr 9:76,764,590...76,778,722
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Resp18em2Mcwi
regulated endocrine-specific protein 18; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
IMP
RGD
PMID:29570433
RGD:14348960
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Retn
resistin
ISO
DNA:SNP:3' utr:*62A>G (human)
RGD
PMID:12629116
RGD:1624968
NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620
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Rffl
ring finger and FYVE-like domain containing E3 ubiquitin protein ligase
IEP
mRNA,protein:increased expression:heart
RGD
PMID:21357277
RGD:13442502
NCBI chr10:67,740,711...67,803,669
Ensembl chr10:67,740,712...67,824,434
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Rgs2
regulator of G-protein signaling 2
ISO IEP
CTD Direct Evidence: therapeutic
CTD RGD
PMID:1798635 PMID:14608379 PMID:17986358
RGD:13524579 , RGD:2289116
NCBI chr13:55,799,749...55,802,354
Ensembl chr13:55,798,829...55,802,385
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Rgs4
regulator of G-protein signaling 4
treatment
IEP
RGD
PMID:21825230
RGD:7207400
NCBI chr13:81,936,775...81,943,103
Ensembl chr13:81,936,775...81,943,068
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Rgs5
regulator of G-protein signaling 5
treatment
ISO IEP
CTD Direct Evidence: therapeutic
CTD RGD
PMID:1798635 PMID:21825230
RGD:7207400
NCBI chr13:81,848,254...81,885,053
Ensembl chr13:81,836,304...81,885,518
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Rhoa
ras homolog family member A
IEP
protein:altered localization:mesenteric artery
RGD
PMID:17620967
RGD:1642801
NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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Rnls
renalase, FAD-dependent amine oxidase
ISO
associated with Diabetes Mellitus Type 2; DNA:SNPs: : rs2296545,rs2576178 (human) associated with kidney Failure,Chronic;DNA:SNPs: : rs2576178, rs10887800 (human)
RGD
PMID:21964580 PMID:21178975 PMID:21617193
RGD:7327172 , RGD:7327174 , RGD:7327173
NCBI chr 1:231,037,481...231,309,855
Ensembl chr 1:231,037,486...231,309,823
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Rnpep
arginyl aminopeptidase
IEP IMP
protein:increased expression:adrenal gland, neurohypophysis
RGD
PMID:9660082 PMID:3001599
RGD:2325942 , RGD:2325950
NCBI chr13:46,699,458...46,717,829
Ensembl chr13:46,699,463...46,717,998
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Rps6kb1
ribosomal protein S6 kinase B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19289642
NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908
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RT1-Ba
RT1 class II, locus Ba
ISO
DNA:polymorphisms (human)
RGD
PMID:11798899
RGD:5147807
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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S100b
S100 calcium binding protein B
ISO
protein:increased expression:serum
RGD
PMID:21130083
RGD:5508770
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
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S1pr1
sphingosine-1-phosphate receptor 1
disease_progression
IAGP
associated with SHRSP;mRNA,protein:increased expression, decreased expression:kidney (rat)
RGD
PMID:17938382
RGD:1643008
NCBI chr 2:203,624,752...203,629,110
Ensembl chr 2:203,621,587...203,629,681
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Scnn1a
sodium channel epithelial 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11752024 PMID:23348737
NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
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Scnn1b
sodium channel epithelial 1 subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15174897 PMID:15198480 PMID:19344079
NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451
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Scnn1g
sodium channel epithelial 1 subunit gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15198480
NCBI chr 1:176,304,942...176,338,816
Ensembl chr 1:176,304,942...176,338,816
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Selp
selectin P
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15513305
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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Serpina1
serpin family A member 1
ISO
protein:increased expression:urine
RGD
PMID:10353322
RGD:1643147
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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Serpine1
serpin family E member 1
treatment
ISO IEP IDA
protein:increased expression:plasma (human) mRNA:increased expression:kidney (SHRSP/A3N rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21051829 PMID:22352330 PMID:8355419 PMID:11907153 PMID:16645728
RGD:8547753 , RGD:28912746 , RGD:11081003
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Serpine2
serpin family E member 2
IEP
mRNA, protein:increased expression:blood vessel
RGD
PMID:12524238
RGD:729767
NCBI chr 9:81,124,746...81,188,866
Ensembl chr 9:81,124,804...81,188,826
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Serpinf2
serpin family F member 2
ISO
RGD
PMID:9361364
RGD:1625531
NCBI chr10:60,272,400...60,280,506
Ensembl chr10:60,272,400...60,281,243
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Sgk1
serum/glucocorticoid regulated kinase 1
no_association susceptibility
ISO
DNA:snps:exon, intron: (human)
RGD
PMID:15304560 PMID:16221215
RGD:1580969 , RGD:1580968
NCBI chr 1:22,980,257...23,098,122
Ensembl chr 1:22,980,261...23,098,283
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Sh2b3
SH2B adaptor protein 3
IMP
RGD
PMID:25776069
RGD:13442483
NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
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Sh2b3em1Mcwi
SH2B adaptor protein 3; zinc finger nuclease induced mutant 1, Medical College of Wisconsin
IMP
RGD
PMID:25776069
RGD:13442483
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Sirt6
sirtuin 6
exacerbates
ISO
RGD
PMID:30894089
RGD:155260334
NCBI chr 7:8,082,312...8,087,776
Ensembl chr 7:8,082,364...8,098,914
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Slc12a2
solute carrier family 12 member 2
IEP ISO IDA
mRNA:increased expression:aorta CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17259435 PMID:15020309 PMID:21814290
RGD:1580582 , RGD:9587757
NCBI chr18:51,348,282...51,416,448
Ensembl chr18:51,348,302...51,416,440
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Slc12a3
solute carrier family 12 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18480177
NCBI chr19:10,630,651...10,679,250
Ensembl chr19:10,631,393...10,669,091
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Slc26a4
solute carrier family 26 member 4
ISO
RGD
PMID:17120771
RGD:7411553
NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703
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Slc2a1
solute carrier family 2 member 1
IEP
protein:increased expression:renal glomerulus
RGD
PMID:12771048
RGD:12879474
NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
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Slc2a3
solute carrier family 2 member 3
IEP
protein:decreased expression:hippocampus, parietal cortex; protein:increased expression:hypothalamus, thalamus
RGD
PMID:7598707
RGD:1642812
NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472
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Slc4a4
solute carrier family 4 member 4
IEP
protein:increased expression:kidney cortex
RGD
PMID:15340004
RGD:1600028
NCBI chr14:18,841,289...19,293,297
Ensembl chr14:18,845,159...19,272,883
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Slc5a2
solute carrier family 5 member 2
IDA
RGD
PMID:14506074
RGD:1599050
NCBI chr 1:182,847,185...182,853,309
Ensembl chr 1:182,847,106...182,853,306
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Slc6a18
solute carrier family 6 member 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15121838
NCBI chr 1:29,607,288...29,621,925
Ensembl chr 1:29,608,077...29,621,925
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Slc6a19
solute carrier family 6 member 19
IEP
mRNA:increased expression
RGD
PMID:17264310
RGD:1600036
NCBI chr 1:29,586,191...29,604,964
Ensembl chr 1:29,586,195...29,604,962
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Slc6a2
solute carrier family 6 member 2
ISO
DNA:polymorphism:1287G>A CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22533655 PMID:17124432
RGD:1624279
NCBI chr19:14,010,292...14,055,317
Ensembl chr19:14,010,386...14,050,357
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Slc6a3
solute carrier family 6 member 3
IEP
protein:increased expression:caudate-putamen
RGD
PMID:9074541
RGD:1625656
NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413
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Slc8a1
solute carrier family 8 member A1
IEP ISO
DNA:snps:intron:g.-23200T>C, g.-23181T>C (human) DNA:SNP: :1784C>T
RGD
PMID:16343576 PMID:15785003 PMID:15824464
RGD:1598724 , RGD:1580732 , RGD:1580586
NCBI chr 6:13,194,609...13,547,369
Ensembl chr 6:13,194,662...13,535,628
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Slc9a3
solute carrier family 9 member A3
IDA
RGD
PMID:11880335 PMID:12372791
RGD:737665 , RGD:727447
NCBI chr 1:29,124,633...29,167,912
Ensembl chr 1:29,124,674...29,167,417
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Sod1
superoxide dismutase 1
treatment
ISO IEP
associated with Hydronephrosis CTD Direct Evidence: marker/mechanism|therapeutic human gene in a rat model mRNA:decreased expression:rostral ventrolateral medulla (rat)
CTD 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 chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Sod2
superoxide dismutase 2
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11834524 PMID:21593737 PMID:25101153 PMID:16716903
RGD:1580833
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Sod3
superoxide dismutase 3
IDA ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:16864745 PMID:17023265 PMID:12600899 PMID:16864745
RGD:1580845 , RGD:1581232
NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
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Sqstm1
sequestosome 1
IEP
protein:decreased expression:brain
RGD
PMID:23499735
RGD:11561939
NCBI chr10:34,525,517...34,536,670
Ensembl chr10:34,525,519...34,536,673
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Src
SRC proto-oncogene, non-receptor tyrosine kinase
IDA
RGD
PMID:16157790
RGD:1601372
NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476
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Srf
serum response factor
IDA
RGD
PMID:16822834
RGD:1580749
NCBI chr 9:14,426,453...14,435,734
Ensembl chr 9:14,426,472...14,435,733
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Sst
somatostatin
IEP
protein:altered expression:stomach
RGD
PMID:17928643
RGD:2303191
NCBI chr11:76,956,896...76,958,173
Ensembl chr11:76,956,896...76,958,173
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Stim1
stromal interaction molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19897708
NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363
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Stk11
serine/threonine kinase 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19289642
NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
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Stk39
serine threonine kinase 39
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:22949526
NCBI chr 3:52,913,583...53,179,060
Ensembl chr 3:52,913,585...53,179,060
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Sts
steroid sulfatase
IEP
protein:increased expression:multiple organs
RGD
PMID:8539776
RGD:1601393
NCBI chr X:42,225,131...42,233,403
Ensembl chr X:42,225,372...42,233,402
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Tac3
tachykinin precursor 3
IEP
protein:increased expression:supraoptic nucleus, medulla oblongata
RGD
PMID:2478257
RGD:2305983
NCBI chr 7:63,562,552...63,569,170
Ensembl chr 7:63,562,552...63,569,170
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Tacr1
tachykinin receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21294877
NCBI chr 4:114,920,844...115,089,733
Ensembl chr 4:114,920,844...115,089,733
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Tacr3
tachykinin receptor 3
IDA
RGD
PMID:2471579
RGD:2305984
NCBI chr 2:223,266,536...223,363,791
Ensembl chr 2:223,266,536...223,363,791
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Tbxas1
thromboxane A synthase 1
IDA
associated with hyperinsulinism
RGD
PMID:9370383 PMID:16192456
RGD:1601472 , RGD:1601439
NCBI chr 4:67,664,963...67,837,096
Ensembl chr 4:67,665,007...67,837,096
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Tf
transferrin
ISO
protein:decreased expression
RGD
PMID:14974364
RGD:1601524
NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
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Tgfb1
transforming growth factor, beta 1
IEP ISO IAGP
protein:increased expression:vascular associated smooth muscle cell protein:increased expression:blood serum (human) mRNA:increased expression:kidney (SHRSP/A3N rat) protein:increased expression:renal glomerulus CTD Direct Evidence: marker/mechanism
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 chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tgfb3
transforming growth factor, beta 3
no_association
ISO
DNA:polymorphism, SNPs
RGD
PMID:15924806
RGD:1625704
NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
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Tgm2
transglutaminase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17898543
NCBI chr 3:146,772,684...146,801,924
Ensembl chr 3:146,772,687...146,801,981
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Th
tyrosine hydroxylase
susceptibility
IEP ISO
mRNA:increased expression:brain CTD Direct Evidence: marker/mechanism DNA:polymorphism:intron:g.1090T>C rs2070762 (human)
CTD RGD
PMID:27659729 PMID:32147540 PMID:32165127 PMID:16650497 PMID:16636198
RGD:1601630 , RGD:1601631
NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
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Thbd
thrombomodulin
treatment
IEP ISO
associated with Experimental Diabetes Mellitus protein:increased expression:plasma protein:decreased expression:plasma
RGD
PMID:14737039 PMID:16095049 PMID:17401180 PMID:12611420
RGD:1601646 , RGD:5685017 , RGD:1601636 , RGD:1601652
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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Timp1
TIMP metallopeptidase inhibitor 1
ISO IEP
protein:decreased expression:glomerulus CTD Direct Evidence: marker/mechanism mRNA, protein:increased expression:kidney
CTD RGD
PMID:21051829 PMID:19506087 PMID:17977875
RGD:2312464 , RGD:2290351
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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Tjp2
tight junction protein 2
IEP
protein:decreased expression:brain
RGD
PMID:17234953
RGD:1600163
NCBI chr 1:221,709,745...221,838,291
Ensembl chr 1:221,709,745...221,838,295
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Tlr4
toll-like receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27292124 PMID:32147540
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tnf
tumor necrosis factor
ameliorates treatment
IAGP IEP ISO IMP
associated with Cardiac Fibrosis CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18605955 PMID:27292124 PMID:27659729 PMID:27847271 PMID:32147540 PMID:9590569 PMID:25715999 PMID:16415373 More...
RGD:1357163 , RGD:401794570 , RGD:1580207
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf11b
TNF receptor superfamily member 11B
severity
ISO
protein:increased expression:serum
RGD
PMID:22050177
RGD:7205512
NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22228705
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Tpm1
tropomyosin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22228705
NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802
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Trh
thyrotropin releasing hormone
IDA ISO
protein:decreased expression:diencephalon CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:6350720 PMID:17227965
RGD:1600406
NCBI chr 4:124,742,111...124,777,094
Ensembl chr 4:124,742,111...124,744,637
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Trhr
thyrotropin releasing hormone receptor
IDA
RGD
PMID:7554113
RGD:1580745
NCBI chr 7:75,348,672...75,393,310
Ensembl chr 7:75,348,672...75,393,309
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Trpc3
transient receptor potential cation channel, subfamily C, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17351372
NCBI chr 2:119,481,313...119,619,333
Ensembl chr 2:119,481,400...119,558,855
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Trpc5
transient receptor potential cation channel, subfamily C, member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17351372
NCBI chr X:107,946,163...108,230,991
Ensembl chr X:107,939,131...108,230,991
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Ucn
urocortin
ISO
associated with Pregnancy Complications;protein:increased expression:plasma CTD Direct Evidence: therapeutic
CTD RGD
PMID:20237592 PMID:16915033
RGD:1642775
NCBI chr 6:25,238,120...25,238,950
Ensembl chr 6:25,238,120...25,238,950
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Ucn2
urocortin 2
ISO
human protein in rat model
RGD
PMID:19204182
RGD:5508437
NCBI chr 8:109,637,624...109,639,173
Ensembl chr 8:109,638,285...109,639,172
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Ucp1
uncoupling protein 1
ISO
DNA:polymorphism: :-3826A>G (human)
RGD
PMID:17635070
RGD:2313626
NCBI chr19:24,808,782...24,816,853
Ensembl chr19:24,808,783...24,816,852
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Ucp2
uncoupling protein 2
treatment
ISO IDA
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16685210 PMID:15106800 PMID:20404217
RGD:1580794 , RGD:7175297
NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
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Ucp3
uncoupling protein 3
IEP
RGD
PMID:10994754
RGD:1580795
NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762
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Ugcg
UDP-glucose ceramide glucosyltransferase
treatment
IEP
RGD
PMID:23528973
RGD:401793732
NCBI chr 5:74,032,978...74,065,701
Ensembl chr 5:74,032,978...74,065,393
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Umod
uromodulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22228705
NCBI chr 1:173,816,341...173,829,681
Ensembl chr 1:173,816,339...173,830,302
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Uts2
urotensin 2
ISO IDA
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16160878 PMID:15201550 PMID:14621188
RGD:1580808 , RGD:1580812
NCBI chr 5:161,450,846...161,456,235
Ensembl chr 5:161,450,846...161,456,237
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Uts2r
urotensin 2 receptor
IDA
RGD
PMID:14621188
RGD:1580812
NCBI chr10:106,438,092...106,439,252
Ensembl chr10:106,438,092...106,439,252
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Vav3
vav guanine nucleotide exchange factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21115475
NCBI chr 2:197,011,901...197,354,321
Ensembl chr 2:197,011,831...197,354,321
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Vcam1
vascular cell adhesion molecule 1
disease_progression
IEP IAGP ISO
mRNA:increased expression:multiple organs associated with SHRSP;mRNA,protein:increased expression:kidney, membrane fraction (rat) CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Type1; protein:increased expression:serum:
CTD RGD
PMID:11834524 PMID:19018797 PMID:19080338 PMID:17938382 PMID:20569722
RGD:2313107 , RGD:1643008 , RGD:7241235
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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Vdr
vitamin D receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11335187
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Vegfa
vascular endothelial growth factor A
treatment
ISO
associated with Prostatic Neoplasms
RGD
PMID:16164572 PMID:20630084
RGD:1580573 , RGD:8552374
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Vhl
von Hippel-Lindau tumor suppressor
ISO
RGD
PMID:12500216
RGD:1580371
NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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Vwf
von Willebrand factor
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism associated with Experimental Diabetes Mellitus
CTD RGD
PMID:12149661 PMID:12425201 PMID:22352330 PMID:14737039
RGD:1601646
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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Wnk1
WNK lysine deficient protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22949526 PMID:16301342
RGD:1580829
NCBI chr 4:153,128,334...153,253,905
Ensembl chr 4:153,128,334...153,253,905
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Wnk4
WNK lysine deficient protein kinase 4
no_association
IAGP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22949526 PMID:12642508 PMID:15110905
RGD:629611 , RGD:1580830
NCBI chr10:86,202,552...86,219,655
Ensembl chr10:86,188,812...86,231,829
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Xdh
xanthine dehydrogenase
treatment
IDA IEP ISO
DNA:SNPs:exon, intron:47686C>T, 69901A>C, 67873A>C (p.N1109T) (human)
RGD
PMID:23746952 PMID:12826072 PMID:18712049 PMID:18728266
RGD:7247630 , RGD:13210518 , RGD:7247654 , RGD:7247653
NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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Xrcc1
X-ray repair cross complementing 1
susceptibility
ISO
DNA:SNP,haplotypes: p.R194W, p.R399Q (rs1799782, rs25487) (human)
RGD
PMID:25529925
RGD:401827819
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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Xrcc3
X-ray repair cross complementing 3
susceptibility
ISO
DNA:SNP,haplotype:cd: p.T241M (rs861539) (human)
RGD
PMID:25529925
RGD:401827819
NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444
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Ywhaz
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta
treatment
IEP
RGD
PMID:22984478
RGD:9587480
NCBI chr 7:67,941,353...67,963,651
Ensembl chr 7:67,940,017...67,963,668
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Apoe
apolipoprotein E
susceptibility
ISO
DNA:polymorphism:exon:
RGD
PMID:17706090
RGD:7771556
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Cat
catalase
severity
ISO
DNA:SNP:promoter:g.4760C>T(rs1001179)(human)
RGD
PMID:23961996
RGD:9068947
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Chat
choline O-acetyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27064256
NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093
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Col11a1
collagen type XI alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22922875 PMID:27064256
NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
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Col18a1
collagen type XVIII alpha 1 chain
ISO
ClinVar Annotator: match by term: Glaucoma, primary closed-angle
ClinVar
PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 PMID:23667181 PMID:25456301 PMID:25741868 PMID:26467025 PMID:28041643 PMID:28492532 PMID:29977801 PMID:30007336 PMID:31623504 PMID:34828430 More...
NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593
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Edn1
endothelin 1
ISO
protein:increased expression:plasma (human)
RGD
PMID:21946544
RGD:8661736
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Epdr1
ependymin related 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27064256
NCBI chr17:45,333,932...45,358,597
Ensembl chr17:45,333,956...45,358,594
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Fermt2
FERM domain containing kindlin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27064256
NCBI chr15:18,682,927...18,751,959
Ensembl chr15:18,682,927...18,751,811
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Glis3
GLIS family zinc finger 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27064256
NCBI chr 1:225,976,029...226,395,849
Ensembl chr 1:225,976,326...226,395,899
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Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
DNA:deletion, haplotype:cds (human)
RGD
PMID:18334963
RGD:7488955
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Hgf
hepatocyte growth factor
susceptibility
ISO
DNA:SNPs,haplotype::rs5745718,rs1742817(human)
RGD
PMID:23585864
RGD:8548548
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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Loxl1
lysyl oxidase-like 1
no_association
ISO
DNA:SNPs: :rs1048661, rs2165241, rs3825942 (human)
RGD
PMID:18223248
RGD:7394723
NCBI chr 8:58,691,763...58,716,365
Ensembl chr 8:58,692,593...58,716,356
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Mmp9
matrix metallopeptidase 9
no_association
ISO
DNA:SNP: :rs2664538 (human) DNA:SNP:promoter:-1562C>T (human) DNA:SNP: :c.836A>G (rs17576) (human) DNA:SNPs: :rs17576, rs3918249 (human)
RGD
PMID:17110919 PMID:23441116 PMID:23441116 PMID:21655354
RGD:8547816 , RGD:8549724 , RGD:8549724 , RGD:8547830
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:SNPs: :677C>T,1298A>C(human)
RGD
PMID:19936026
RGD:7387250
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
associated with Cataract;protein:decreased expression:tear
RGD
PMID:21139981
RGD:7364742
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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Nos3
nitric oxide synthase 3
susceptibility
ISO
DNA:duplication:intron:IVS4?-?+27 (human) DNA:snps:introns:g.IVS5+1182G>A, g.IVS25+11C>A (rs3793342, rs7830) (human)
RGD
PMID:20069064 PMID:23422825
RGD:7771573 , RGD:7775046
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Plekha7
pleckstrin homology domain containing A7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22922875 PMID:27064256
NCBI chr 1:170,364,524...170,547,843
Ensembl chr 1:170,365,135...170,547,775
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Prss56
serine protease 56
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21532570
NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978
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Sh3pxd2b
SH3 and PX domains 2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28719234
NCBI chr10:16,918,611...17,027,499
Ensembl chr10:16,918,679...17,005,170
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Slc19a1
solute carrier family 19 member 1
ISO
ClinVar Annotator: match by term: Glaucoma, primary closed-angle
ClinVar
PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 PMID:23667181 PMID:25456301 PMID:25741868 PMID:26467025 PMID:28041643 PMID:28492532 PMID:29977801 PMID:31623504 PMID:34828430 More...
NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
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Tfap2b
transcription factor AP-2 beta
ISS
MouseDO
NCBI chr 9:21,786,251...21,816,054
Ensembl chr 9:21,786,258...21,814,520
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Foxc1
forkhead box C1
ISO
ClinVar Annotator: match by term: Anterior segment dysgenesis 3 | ClinVar Annotator: match by term: Glaucoma iridogoniodysplasia, familial CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9620769 PMID:9792859 PMID:11007653 PMID:11170889 PMID:12036988 PMID:19668217 PMID:19793056 PMID:24556684 PMID:25741868 PMID:28492532 PMID:30143558 PMID:32475988 PMID:32832252 PMID:34741396 PMID:34745210 More...
NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
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Pitx2
paired-like homeodomain 2
ISO
ClinVar Annotator: match by term: Anterior segment dysgenesis 4 | ClinVar Annotator: match by term: Iris hypoplasia with early onset glaucoma, autosomal dominant CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:7581385 PMID:8942889 PMID:9437321 PMID:9618168 PMID:10502778 PMID:25741868 PMID:28492532 PMID:32499604 More...
NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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Map3k7
mitogen activated protein kinase kinase kinase 7
ISO
protein:increased expression:cortex of kidney (human)
RGD
PMID:34584221
RGD:155791449
NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
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Atl2
atlastin GTPase 2
ISO
ClinVar Annotator: match by term: Congenital glaucoma
ClinVar
PMID:9097971 PMID:9497261 PMID:19234632 PMID:28492532 PMID:31251480
NCBI chr 6:15,139,071...15,180,421
Ensembl chr 6:15,139,044...15,180,421
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Cpamd8
C3 and PZP-like, alpha-2-macroglobulin domain containing 8
ISO
ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A
ClinVar
PMID:25741868
NCBI chr 4:155,332,827...155,413,098
Ensembl chr 4:155,332,827...155,413,117
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Cyp1b1
cytochrome P450, family 1, subfamily b, polypeptide 1
susceptibility
ISO ISS
ClinVar Annotator: match by term: Congenital glaucoma | ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A | ClinVar Annotator: match by term: Glaucoma, primary open angle, juvenile-onset OMIM:231300 CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.A388T (human) DNA:missense mutation, deletion:exon:p.R390H, g.4633delC (human) DNA:duplication:exon:g.1546-1555dupTCATGCCACC (human) DNA:missense mutations:exons:p.G61E, p.R368H, p.D374N (human) DNA:missense mutations:exons:p.G61E, p.R469W, p.R523K (human) DNA:deletion, snp:exons:g.4339delG, p.G61E (human) DNA:snp:cds:p.E387K (human) DNA:polymorphisms:multiple (human)
OMIM ClinVar MouseDO CTD RGD
PMID:2782041 PMID:9097971 PMID:9463332 PMID:9497261 PMID:9536098 PMID:10227395 PMID:10426814 PMID:10655546 PMID:10739169 PMID:10910054 PMID:11184479 PMID:11403040 PMID:11527932 PMID:11558822 PMID:11774072 PMID:11854439 PMID:11980847 PMID:12036985 PMID:12372064 PMID:12525557 PMID:12598442 PMID:14507861 PMID:14635112 PMID:15037581 PMID:15255109 PMID:15342693 PMID:15621878 PMID:16199547 PMID:16384942 PMID:16688110 PMID:16735991 PMID:16735994 PMID:16862072 PMID:17164573 PMID:17224759 PMID:17363580 PMID:17563717 PMID:17576681 PMID:17591938 PMID:17718864 PMID:17893647 PMID:18055790 PMID:18070520 PMID:18227148 PMID:18414103 PMID:18470941 PMID:18537981 PMID:18622259 PMID:18852424 PMID:19195637 PMID:19204079 PMID:19234632 PMID:19236111 PMID:19247456 PMID:19528825 PMID:19536304 PMID:19597567 PMID:19643970 PMID:19744731 PMID:19793111 PMID:19807744 PMID:20057908 PMID:20151268 PMID:20198978 PMID:20664688 PMID:20827438 PMID:21081970 PMID:21168818 PMID:21306220 PMID:21572728 PMID:21600657 PMID:21815720 PMID:21850185 PMID:21854771 PMID:22004014 PMID:22128238 PMID:22878448 PMID:22942166 PMID:23028769 PMID:23218183 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24123366 PMID:24227805 PMID:24281366 PMID:24940937 PMID:25018621 PMID:25091052 PMID:25109919 PMID:25261878 PMID:25333069 PMID:25527694 PMID:25580891 PMID:25646030 PMID:25741868 PMID:25826643 PMID:25950505 PMID:25952714 PMID:25978063 PMID:26550445 PMID:26550974 PMID:26997785 PMID:27060699 PMID:27243976 PMID:27268095 PMID:27270415 PMID:27272408 PMID:27408750 PMID:27508083 PMID:27535533 PMID:27777502 PMID:27820421 PMID:28192799 PMID:28384041 PMID:28425089 PMID:28448622 PMID:28492532 PMID:28620713 PMID:28644236 PMID:29142762 PMID:29556725 PMID:30108387 PMID:30484747 PMID:30520782 PMID:30653986 PMID:30662834 PMID:30788381 PMID:31024815 PMID:31251480 PMID:31453292 PMID:32224865 PMID:32476818 PMID:32499604 PMID:32510024 PMID:32830442 PMID:32832252 PMID:32860008 PMID:32883240 PMID:34956319 PMID:35085548 PMID:35170016 PMID:36076309 PMID:16490498 PMID:19247456 PMID:12567107 PMID:19597567 PMID:19593207 PMID:20664688 PMID:10227395 PMID:23922489 PMID:12624268 More...
RGD:7800719 , RGD:7800711 , RGD:7800707 , RGD:7800689 , RGD:7800688 , RGD:7800680 , RGD:7800670 , RGD:7800657 , RGD:734869
NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
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Foxc1
forkhead box C1
ISS
OMIM:231300
MouseDO
NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
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Galm
galactose mutarotase
ISO
ClinVar Annotator: match by term: Congenital glaucoma
ClinVar
PMID:9097971 PMID:9497261 PMID:19234632 PMID:28492532 PMID:31251480
NCBI chr 6:14,837,540...14,889,484
Ensembl chr 6:14,837,548...14,889,310
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Hnrnpll
heterogeneous nuclear ribonucleoprotein L-like
ISO
ClinVar Annotator: match by term: Congenital glaucoma
ClinVar
PMID:9097971 PMID:9497261 PMID:19234632 PMID:28492532 PMID:31251480
NCBI chr 6:14,969,953...15,000,574
Ensembl chr 6:14,970,057...14,999,745
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Ltbp2
latent transforming growth factor beta binding protein 2
ISO
ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A
ClinVar
PMID:19656777
NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208
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Myoc
myocilin
ISO
ClinVar Annotator: match by term: Glaucoma 3, primary congenital, a, digenic
ClinVar
PMID:12447164 PMID:15025728 PMID:15723004 PMID:15733270 PMID:16288197 PMID:16466712 PMID:17563717 PMID:22194650 PMID:22736945 PMID:25741868 PMID:28492532 PMID:35196929 More...
NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127
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Pxdn
peroxidasin
ISO
ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A
ClinVar
PMID:25741868
NCBI chr 6:46,580,749...46,658,345
Ensembl chr 6:46,580,761...46,658,345
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Tyr
tyrosinase
ISS
OMIM:231300
MouseDO
NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
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Trpm3
transient receptor potential cation channel, subfamily M, member 3
ISO
ClinVar Annotator: match by term: Cataract 50 with or without glaucoma
ClinVar OMIM
PMID:25090642
NCBI chr 1:219,673,200...220,557,610
Ensembl chr 1:219,672,892...220,560,717
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Sbf2
SET binding factor 2
ISO ISS
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma OMIM:604563 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9521281 PMID:9536098 PMID:10932274 PMID:12554688 PMID:12687498 PMID:15304601 PMID:15477569 PMID:16199547 PMID:17576681 PMID:22730194 PMID:24290377 PMID:25025039 PMID:25741868 PMID:25873783 PMID:26392352 PMID:26467025 PMID:27582484 PMID:28440294 PMID:28492532 PMID:29590070 PMID:31673878 PMID:32376792 PMID:32906206 PMID:33726816 PMID:34169998 PMID:36790232 More...
NCBI chr 1:164,352,892...164,719,883
Ensembl chr 1:164,353,444...164,719,807
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Kcnip1
potassium voltage-gated channel interacting protein 1
ISO
ClinVar Annotator: match by term: Hypertension, diastolic, resistance to
ClinVar
PMID:15057310 PMID:16155733 PMID:25741868
NCBI chr10:18,219,519...18,588,833
Ensembl chr10:18,219,519...18,589,045
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Kcnmb1
potassium calcium-activated channel subfamily M regulatory beta subunit 1
ISO
ClinVar Annotator: match by term: Hypertension, diastolic, resistance to CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:15057310 PMID:16155733 PMID:25741868
NCBI chr10:18,557,510...18,614,824
Ensembl chr10:18,557,904...18,565,798
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Il6
interleukin 6
treatment
IDA
RGD
PMID:27106269
RGD:11062145
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Acsm3
acyl-CoA synthetase medium-chain family member 3
no_association
ISO
RGD
PMID:11592044
RGD:1579978
NCBI chr 1:174,133,260...174,159,966
Ensembl chr 1:174,133,288...174,160,184
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Add1
adducin 1
ISO
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 chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182
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Agt
angiotensinogen
ISO
ClinVar Annotator: match by term: Essential hypertension, genetic | ClinVar Annotator: match by term: Hypertension, essential, susceptibility to 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 chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Agtr1a
angiotensin II receptor, type 1a
treatment
ISO
ClinVar Annotator: match by term: Essential hypertension | ClinVar Annotator: match by term: Essential hypertension, genetic | ClinVar Annotator: match by term: Hypertension, essential, susceptibility to CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:8021009 PMID:9084931 PMID:15042429 PMID:16116425 PMID:25741868 PMID:28492532 PMID:28973083 PMID:18604484 More...
RGD:10047396
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Aif1
allograft inflammatory factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34453990
NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668
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Atp1b1
ATPase Na+/K+ transporting subunit beta 1
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr13:76,786,580...76,807,096
Ensembl chr13:76,786,578...76,807,459
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Atp2a2
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
susceptibility
ISO
DNA:polymorphism:exon:p.A724A (c.2171G>A)(human)
RGD
PMID:20687374
RGD:13507310
NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101
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Atp5pf
ATP synthase peripheral stalk subunit F6
ISO
protein:increased expression:plasma (human)
RGD
PMID:14654753
RGD:13800915
NCBI chr11:23,881,594...23,889,581
Ensembl chr11:23,881,592...23,889,119
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Caly
calcyon neuron-specific vesicular protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30753204
NCBI chr 1:194,862,671...194,873,861
Ensembl chr 1:194,862,672...194,873,551
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Cat
catalase
ISO
RGD
PMID:15735318
RGD:1581147
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Cdca3
cell division cycle associated 3
ISO
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 chr 4:157,634,775...157,638,799
Ensembl chr 4:157,634,928...157,638,799
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Cyba
cytochrome b-245 alpha chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34453990
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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Cybb
cytochrome b-245 beta chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34453990
NCBI chr X:13,358,101...13,392,570
Ensembl chr X:13,359,430...13,392,586
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Cyp3a9
cytochrome P450, family 3, subfamily a, polypeptide 9
susceptibility
ISO
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 chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
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Ece1
endothelin converting enzyme 1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD OMIM
NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
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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 chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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Ffar2
free fatty acid receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34453990
NCBI chr 1:86,071,855...86,075,049
Ensembl chr 1:86,072,184...86,075,033
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Ffar3
free fatty acid receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34453990
NCBI chr 1:86,105,388...86,106,728
Ensembl chr 1:86,104,920...86,106,849
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Fgfr2
fibroblast growth factor receptor 2
sexual_dimorphism
IEP
mRNA, protein:decreased expression:inferior vagus X ganglion, nucleus of solitary tract (rat)
RGD
PMID:31626954
RGD:155791444
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Fto
FTO, alpha-ketoglutarate dependent dioxygenase
ISO
DNA:SNP: :rs8050136 (human)
RGD
PMID:23691120
RGD:329845889
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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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 chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751
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Gnb3
G protein subunit beta 3
susceptibility
ISO
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 chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173
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Grk4
G protein-coupled receptor kinase 4
susceptibility
ISO
DNA:SNP,haplotypes:cds:
RGD
PMID:15097232 PMID:15097232
RGD:1598505 , RGD:1598505
NCBI chr14:75,998,554...76,080,808
Ensembl chr14:76,006,218...76,080,693
G
Havcr1
hepatitis A virus cellular receptor 1
ISO
protein:increased expression:urine:
RGD
PMID:22923545
RGD:7245500
NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
G
Hmgb1
high mobility group box 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34453990
NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
G
Hsd11b1
hydroxysteroid 11-beta dehydrogenase 1
susceptibility
ISO
DNA:SNP:insertion: ins4436A (rs45487298) (human)
RGD
PMID:26671915
RGD:11353457
NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
G
Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34453990
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Lcn2
lipocalin 2
ISO
protein:increased expression:urine:
RGD
PMID:22923545
RGD:7245500
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
G
Mir126a
microRNA 126a
ISO
RNA:decreased expression:peripheral blood mononuclear cell
RGD
PMID:24794206
RGD:401851039
NCBI chr 3:9,415,063...9,415,180
Ensembl chr 3:9,415,063...9,415,180
G
Ncf1
neutrophil cytosolic factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34453990
NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646
G
Nos3
nitric oxide synthase 3
ISO ISS
DNA:repeats:intron:IVS13+?-?dupCA (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:snp:cds:p.E298D (human)
MouseDO CTD ClinVar RGD
PMID:25741868 PMID:9084930 PMID:11394896
RGD:1580277 , RGD:1580280
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
G
Nppb
natriuretic peptide B
ISO
protein:increased expression:plasma:
RGD
PMID:9350073
RGD:7246914
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
G
Npr2
natriuretic peptide receptor 2
ISO
DNA:repeat:intron:IVS2+150(GT)10-11 (human)
RGD
PMID:10082481
RGD:1580772
NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
G
Ocln
occludin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34453990
NCBI chr 2:31,657,217...31,707,466
Ensembl chr 2:31,657,220...31,764,150
G
Phactr1
phosphatase and actin regulator 1
susceptibility
ISO
DNA:SNP::g.12903725A>G (rs9349379) (human)
RGD
PMID:34758666
RGD:401900745
NCBI chr17:21,560,364...22,040,166
Ensembl chr17:21,562,721...22,039,831
G
Ptgis
prostaglandin I2 synthase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Essential hypertension | ClinVar Annotator: match by term: Essential hypertension, genetic
OMIM CTD ClinVar
PMID:12372404 PMID:25741868
NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451
G
Ptpn1
protein tyrosine phosphatase, non-receptor type 1
susceptibility
ISO
DNA:SNPs::g.54281T>A, 15/37C>A (human)
RGD
PMID:20101100
RGD:401959376
NCBI chr 3:156,638,811...156,687,503
Ensembl chr 3:156,638,769...156,687,504
G
Rarres2
retinoic acid receptor responder 2
ISO
protein:increased expression:serum:
RGD
PMID:24047472
RGD:15036820
NCBI chr 4:77,522,549...77,525,733
Ensembl chr 4:77,522,535...77,525,556
G
Rbp4
retinol binding protein 4
disease_progression
ISO
protein:increased expression:blood plasma (human) protein:increased expression:blood serum (human)
RGD
PMID:31865725 PMID:19556974
RGD:329845583 , RGD:329845861
NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
G
Ren
renin
ISO
RGD
PMID:1152295
RGD:125097505
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
G
Rgs5
regulator of G-protein signaling 5
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr13:81,848,254...81,885,053
Ensembl chr13:81,836,304...81,885,518
G
Rnls
renalase, FAD-dependent amine oxidase
ISO
DNA:SNPs: :rs2576178, rs2296545,rs2114406 (human)
RGD
PMID:17216203
RGD:7327177
NCBI chr 1:231,037,481...231,309,855
Ensembl chr 1:231,037,486...231,309,823
G
Slc12a3
solute carrier family 12 member 3
severity
ISO
DNA:missense mutation:cds:p.R904Q (human) DNA:snp:intron:g.1784C>T (human)
RGD
PMID:15480096 PMID:15824464
RGD:1580589 , RGD:1580586
NCBI chr19:10,630,651...10,679,250
Ensembl chr19:10,631,393...10,669,091
G
Th
tyrosine hydroxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34453990
NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
G
Tjp1
tight junction protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34453990
NCBI chr 1:118,849,838...119,094,492
Ensembl chr 1:118,849,838...119,094,432
G
Tlr2
toll-like receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34453990
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
G
Tlr4
toll-like receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34453990
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34453990
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Umod
uromodulin
ISO
ClinVar Annotator: match by term: Essential hypertension
ClinVar
NCBI chr 1:173,816,341...173,829,681
Ensembl chr 1:173,816,339...173,830,302
G
Zscan25
zinc finger and SCAN domain containing 25
ISO
ClinVar Annotator: match by term: Hypertension, salt-sensitive essential, susceptibility to
ClinVar
PMID:11279519 PMID:11740341 PMID:12065767 PMID:12754175 PMID:15492926
NCBI chr12:9,327,347...9,338,206
Ensembl chr12:9,326,404...9,338,221
G
Acvr1
activin A receptor type 1
disease_progression
ISO
DNA:missense mutation:SNP:rs12997 (human)
RGD
PMID:32641001
RGD:329845517
NCBI chr 3:42,978,558...43,097,892
Ensembl chr 3:42,978,561...43,098,241
G
Agpat1
1-acylglycerol-3-phosphate O-acyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28553957
NCBI chr20:4,135,955...4,144,880
Ensembl chr20:4,135,957...4,145,278
G
Apoe
apolipoprotein E
susceptibility
ISO
DNA:polymorphism:exon:
RGD
PMID:15939044
RGD:7771555
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
G
Cacna1a
calcium voltage-gated channel subunit alpha1 A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25706626
NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
G
Cav1
caveolin 1
no_association
ISO
DNA:SNP:promoter:rs4236601 (human)
RGD
PMID:20835238
RGD:8661783
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
G
Clu
clusterin
no_association
ISO
DNA:SNPs, haplotype: :multiple DNA:SNP:intron:rs2279590 (human)
RGD
PMID:18806885 PMID:25057782 PMID:19182256 PMID:19182256 PMID:16639006
RGD:8699505 , RGD:9068391 , RGD:8887372 , RGD:8887372 , RGD:8699516
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
G
Edn1
endothelin 1
ISO
associated with Cataract;protein:increased expression:aqueous humor (human)
RGD
PMID:15031170
RGD:8661674
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
G
Eln
elastin
ISO
RGD
PMID:7777294
RGD:9585736
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
G
Gstm1
glutathione S-transferase mu 1
susceptibility no_association
ISO
DNA:deletion, haplotype:cds (human) DNA:deletion:cds (human)
RGD
PMID:18334963 PMID:16020292
RGD:7488955 , RGD:7495792
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
G
Gstt1
glutathione S-transferase theta 1
susceptibility no_association
ISO
DNA:deletion:cds (human) mRNA:decreased expression:ciliary processes, iris (human)
RGD
PMID:21151336 PMID:18055805 PMID:16020292
RGD:7794822 , RGD:7794853 , RGD:7495792
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
G
Loxl1
lysyl oxidase-like 1
susceptibility no_association
ISO ISS
DNA:SNP: :p.R141L (rs1048661) (human) ClinVar Annotator: match by term: Exfoliation syndrome, susceptibility to OMIM:177650 CTD Direct Evidence: marker/mechanism DNA:CNVs DNA:SNPs:exon:p.R141L, p.G153D (human) DNA:SNP, haplotypes:promoter:multiple DNA:SNP:exon:rs1048661, rs3825942 (human) DNA:SNP, haplotypes: :rs1048661, rs3825942 (human) DNA:SNP: :multiple
ClinVar MouseDO OMIM CTD RGD
PMID:17690259 PMID:18037624 PMID:19343041 PMID:25706626 PMID:25741868 PMID:28553957 PMID:23378724 PMID:19029039 PMID:23288989 PMID:21320968 PMID:21212179 PMID:21740868 PMID:22605916 PMID:19503743 PMID:19373106 More...
RGD:7387325 , RGD:7394726 , RGD:7387333 , RGD:7387332 , RGD:7387331 , RGD:7387329 , RGD:7387328 , RGD:7387327 , RGD:7387326
NCBI chr 8:58,691,763...58,716,365
Ensembl chr 8:58,692,593...58,716,356
G
Ltbp2
latent transforming growth factor beta binding protein 2
ISO
ClinVar Annotator: match by term: Pseudoexfoliation glaucoma
ClinVar
PMID:23401661 PMID:25741868 PMID:28492532
NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208
G
Lyst
lysosomal trafficking regulator
ISS
OMIM:177650
MouseDO
NCBI chr17:86,241,384...86,443,501
Ensembl chr17:86,241,384...86,443,480
G
Mmp1
matrix metallopeptidase 1
no_association
ISO
DNA:insertion:promoter:g.-1607insG rs1799750 (human)
RGD
PMID:20808730
RGD:8549725
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
G
Mmp9
matrix metallopeptidase 9
no_association
ISO
DNA:insertion: :p.Q279R (rs17576) (human)
RGD
PMID:20808730
RGD:8549725
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Optn
optineurin
no_association
ISO
DNA:polymorphism: :p.M98K (human)
RGD
PMID:16020311
RGD:6480509
NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
G
Pomp
proteasome maturation protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28553957
NCBI chr12:7,162,098...7,174,737
Ensembl chr12:7,160,714...7,174,715
G
Pon1
paraoxonase 1
ISO
protein:decreased expression:serum (human)
RGD
PMID:19628957
RGD:8547685
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
G
Rbms3
RNA binding motif, single stranded interacting protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28553957
NCBI chr 8:116,305,227...117,625,730
Ensembl chr 8:116,309,882...117,625,423
G
Sod2
superoxide dismutase 2
ISO
associated with cataract;mRNA:increased expression:lens epithelium: associated with glaucoma,primary open angle; mRNA:increased expression: ciliary body, iris:
RGD
PMID:23805041 PMID:18055805
RGD:8158048 , RGD:7794853
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
G
Stra6
signaling receptor and transporter of retinol STRA6
ISO
mRNA:decreased expression:iris, retina (human)
RGD
PMID:30986821
RGD:155631292
NCBI chr 8:58,548,899...58,568,861
Ensembl chr 8:58,549,736...58,568,860
G
Tlcd5
TLC domain containing 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28553957
NCBI chr 8:43,481,388...43,486,288
Ensembl chr 8:43,479,016...43,486,290
G
Tlr4
toll-like receptor 4
susceptibility
ISO
DNA:haplotype::
RGD
PMID:22831837
RGD:7794768
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Ace2
angiotensin converting enzyme 2
treatment
IDA
RGD
PMID:23702784
RGD:9685447
NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
G
Ago2
argonaute RISC catalytic component 2
exacerbates
ISO
RGD
PMID:29392316
RGD:401900730
NCBI chr 7:105,018,202...105,105,118
Ensembl chr 7:105,029,120...105,104,974
G
Anxa3
annexin A3
IEP
mRNA:increased expression:retina
RGD
PMID:18055803
RGD:2289160
NCBI chr14:12,727,708...12,781,717
Ensembl chr14:12,719,795...12,781,617
G
Apoa4
apolipoprotein A4
ISO
Primary Congenital Glaucoma; protein:increased expression:aqueous humor (human)
RGD
PMID:21078314
RGD:5685641
NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
G
Apoe
apolipoprotein E
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
G
Arhgef12
Rho guanine nucleotide exchange factor 12
ISO
ClinVar Annotator: match by term: Glaucoma
ClinVar
PMID:25741868
NCBI chr 8:43,350,070...43,475,404
Ensembl chr 8:43,353,799...43,476,366
G
Atf2
activating transcription factor 2
IEP
RGD
PMID:17586494
RGD:10047416
NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236
G
Bad
BCL2-associated agonist of cell death
IEP
protein:decreased serine phosphorylation:retina
RGD
PMID:16103353
RGD:2292690
NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
G
Bax
BCL2 associated X, apoptosis regulator
IEP
mRNA:increased expression:optic nerve, retina
RGD
PMID:24357921
RGD:10054098
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
G
Bcl2
BCL2, apoptosis regulator
IEP
mRNA:decreased expression:optic nerve, retina
RGD
PMID:24357921
RGD:10054098
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
G
Bdnf
brain-derived neurotrophic factor
treatment
ISO IDA IEP
protein:decreased expression:eye:
RGD
PMID:19422885 PMID:21498611 PMID:10711692
RGD:8655601 , RGD:8655886 , RGD:8655608
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
G
Becn1
beclin 1
IEP
protein:increased expression:eye
RGD
PMID:22476098
RGD:6483048
NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
G
Bex3
brain expressed X-linked 3
IEP
mRNA:decreased expression:retina
RGD
PMID:19682984
RGD:9743977
NCBI chr X:99,273,270...99,274,799
Ensembl chr X:99,273,161...99,274,800
G
Ccnd2
cyclin D2
IEP
mRNA:increased expression:retina
RGD
PMID:18055803
RGD:2289160
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
G
Ccr5
C-C motif chemokine receptor 5
ISO
RGD
PMID:16159632
RGD:8549757
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
G
Cdkn1b
cyclin-dependent kinase inhibitor 1B
IEP
mRNA, protein:decreased expression:retina, Muller cell
RGD
PMID:16707124
RGD:2293623
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
G
Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21532571
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
G
Cdkn2b
cyclin-dependent kinase inhibitor 2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21532571
NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
G
Cfh
complement factor H
ISO
protein:decreased expression:retina:
RGD
PMID:20484586
RGD:7364950
NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
G
Cntf
ciliary neurotrophic factor
ameliorates
IDA ISO
RGD
PMID:14725620 PMID:19060281
RGD:1626115 , RGD:8655853
NCBI chr 1:209,887,854...209,889,877
Ensembl chr 1:209,887,854...209,889,877
G
Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Glaucoma
ClinVar
PMID:25741868
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
G
Cx3cr1
C-X3-C motif chemokine receptor 1
ISO
RGD
PMID:24989686
RGD:9384823
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
G
Eef2
eukaryotic translation elongation factor 2
ISO
associated with Exfoliation Syndrome;
RGD
PMID:20107165
RGD:10401222
NCBI chr 7:8,533,248...8,538,518
Ensembl chr 7:8,533,116...8,559,183
G
Epo
erythropoietin
ISO IEP
protein:increased expression:retina:
RGD
PMID:19741249 PMID:17554621 PMID:17554621
RGD:10401071 , RGD:11041649 , RGD:11041649
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
G
Epor
erythropoietin receptor
IEP
protein:increased expression:retina:
RGD
PMID:17554621
RGD:11041649
NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
G
Fas
Fas cell surface death receptor
ISO
protein:increased expression:optic nerve head, axon (human)
RGD
PMID:19043361
RGD:8662440
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
G
Foxc1
forkhead box C1
ISO
associated with Axenfeld-Rieger Syndrome;DNA:mutation:cds:p.Q120X(human)
RGD
PMID:18498376
RGD:12904045
NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
G
Foxd3
forkhead box D3
ISO
mRNA:increased expression:optic nerve head (human)
RGD
PMID:28990066
RGD:155630605
NCBI chr 5:114,335,084...114,337,450
Ensembl chr 5:114,335,408...114,336,817
G
Gem
GTP binding protein overexpressed in skeletal muscle
IEP
mRNA:decreased expression:optic nerve head (rat)
RGD
PMID:28990066
RGD:155630605
NCBI chr 5:25,214,309...25,225,222
Ensembl chr 5:25,214,309...25,225,222
G
Hdac1
histone deacetylase 1
ISO IEP
mRNA:increased expression:optic nerve head (human) mRNA:increased expression:optic nerve head (rat)
RGD
PMID:28990066 PMID:28990066
RGD:155630605 , RGD:155630605
NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
G
Heph
hephaestin
ISO
mRNA:increased expression:optic nerve head (human)
RGD
PMID:28990066
RGD:155630605
NCBI chr X:61,151,131...61,402,980
Ensembl chr X:61,296,345...61,402,980
G
Hnf4a
hepatocyte nuclear factor 4, alpha
ISO
mRNA:increased expression:optic nerve head (human)
RGD
PMID:28990066
RGD:155630605
NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
G
Id1
inhibitor of DNA binding 1
ISO
mRNA:increased expression:optic nerve head (human)
RGD
PMID:28990066
RGD:155630605
NCBI chr 3:141,210,666...141,212,420
Ensembl chr 3:141,211,267...141,212,419
G
Jun
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
mRNA:increased expression:optic nerve head (human)
RGD
PMID:28990066
RGD:155630605
NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
G
Lgr4
leucine-rich repeat-containing G protein-coupled receptor 4
ISS
MouseDO
NCBI chr 3:96,447,385...96,550,006
Ensembl chr 3:96,447,858...96,548,899
G
Lingo1
leucine rich repeat and Ig domain containing 1
treatment
ISO
RGD
PMID:19422885
RGD:8655601
NCBI chr 8:57,011,272...57,193,496
Ensembl chr 8:57,010,007...57,196,544
G
Ltbp2
latent transforming growth factor beta binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19361779 PMID:27149523
NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208
G
Map1lc3a
microtubule-associated protein 1 light chain 3 alpha
IEP
protein:increased expression:optic nerve
RGD
PMID:24136224
RGD:13782046
NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670
G
Mas1
MAS1 proto-oncogene, G protein-coupled receptor
treatment
IMP
RGD
PMID:23702784
RGD:9685447
NCBI chr 1:47,879,956...47,911,500
Ensembl chr 1:47,880,309...47,911,709
G
Mettl23
methyltransferase 23, arginine
ISS
MouseDO
NCBI chr10:102,047,090...102,053,379
Ensembl chr10:102,047,314...102,051,977
G
Mir145
microRNA 145
ameliorates
IMP
RGD
PMID:34291866
RGD:155260301
NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
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Mir200c
microRNA 200c
treatment
IMP
RGD
PMID:23272142
RGD:155882562
NCBI chr 4:157,523,679...157,523,747
G
Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:16185954
RGD:8547817
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
protein:increased expression:conjunctival epithelial cell
RGD
PMID:16809382
RGD:7364743
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
G
Mylk
myosin light chain kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20375339
NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
G
Myoc
myocilin
TAS ISO
ClinVar Annotator: match by term: Glaucoma CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:9535666 PMID:9772276 PMID:9804137 PMID:10196380 PMID:10330365 PMID:10545602 PMID:10798654 PMID:10980537 PMID:11004290 PMID:11133859 PMID:11152659 PMID:11281418 PMID:11298682 PMID:11803488 PMID:12189160 PMID:12356829 PMID:12442283 PMID:12872267 PMID:14688426 PMID:14764620 PMID:14767915 PMID:15790895 PMID:16148883 PMID:16466712 PMID:16636654 PMID:17438518 PMID:17893664 PMID:18776955 PMID:19145250 PMID:21552496 PMID:21850185 PMID:22736945 PMID:22933836 PMID:23029558 PMID:23922489 PMID:24033266 PMID:25741868 PMID:27485216 PMID:28492532 PMID:30389787 PMID:31959993 PMID:35196929 PMID:10833334 More...
RGD:633384
NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127
G
Nefh
neurofilament heavy chain
IEP
protein:decreased expression:optic nerve:
RGD
PMID:28498493
RGD:27226819
NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
G
Ngf
nerve growth factor
IEP
protein:decreased expression:cerebrospinal fluid
RGD
PMID:18938194
RGD:2303806
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
G
Ngfr
nerve growth factor receptor
IDA
RGD
PMID:20943663
RGD:5508695
NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
G
Nmnat3
nicotinamide nucleotide adenylyltransferase 3
treatment
IDA
RGD
PMID:24136224
RGD:13782046
NCBI chr 8:98,892,168...99,003,912
Ensembl chr 8:98,873,398...99,020,645
G
Ntrk1
neurotrophic receptor tyrosine kinase 1
IEP IDA
mRNA,protein:decreased expression:eye
RGD
PMID:18817846 PMID:20943663
RGD:5684379 , RGD:5508695
NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
G
Ntrk2
neurotrophic receptor tyrosine kinase 2
IDA IEP
protein:increased expression:eye:
RGD
PMID:20357199 PMID:10711692
RGD:5684908 , RGD:8655608
NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
G
Opa1
OPA1, mitochondrial dynamin like GTPase
treatment
ISO
RGD
PMID:18936150 PMID:20664796
RGD:7800698 , RGD:7800720
NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
G
Optn
optineurin
susceptibility
ISO
DNA:SNP:intron:
RGD
PMID:16148883
RGD:7771548
NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
G
Pbx1
PBX homeobox 1
ISO IEP
mRNA:increased expression:optic nerve head (human) mRNA:increased expression:optic nerve head (rat)
RGD
PMID:28990066 PMID:28990066
RGD:155630605 , RGD:155630605
NCBI chr13:80,278,766...80,588,563
Ensembl chr13:80,278,770...80,588,594
G
Pitx2
paired-like homeodomain 2
ISS
MouseDO
NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
G
Ptgs1
prostaglandin-endoperoxide synthase 1
ISO
protein:increased expression:microglia
RGD
PMID:11391707
RGD:5688244
NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
treatment
ISO IMP IEP
protein:increased phosphorylation:retina protein:increased expression,increased phosphorylation:retina
RGD
PMID:30341011 PMID:30341011 PMID:30341011
RGD:39456090 , RGD:39456090 , RGD:39456090
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
G
Rftn1
raftlin lipid raft linker 1
ISO IEP
mRNA:increased expression:optic nerve head (human) mRNA:increased expression:optic nerve head (rat)
RGD
PMID:28990066 PMID:28990066
RGD:155630605 , RGD:155630605
NCBI chr 9:10,804,611...11,002,084
Ensembl chr 9:10,804,611...11,002,084
G
RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphisms, haplotype:cds:HLA-DQB1*0302 (human)
RGD
PMID:10511023
RGD:7365116
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
G
RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:Haplotype: :HLA-DRB1*0407(human)
RGD
PMID:10511023
RGD:7365116
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
G
Ryr1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: Glaucoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
G
Selenbp1
selenium binding protein 1
ISO
mRNA:increased expression:optic nerve head (human)
RGD
PMID:28990066
RGD:155630605
NCBI chr 2:182,494,004...182,504,594
Ensembl chr 2:182,493,978...182,504,594
G
Serpine1
serpin family E member 1
ISO
protein:increased expression:aqueous humor (human)
RGD
PMID:15710819
RGD:8547695
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
G
Sh3pxd2b
SH3 and PX domains 2B
ISS
MouseDO
NCBI chr10:16,918,611...17,027,499
Ensembl chr10:16,918,679...17,005,170
G
Slc4a4
solute carrier family 4 member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18614622
NCBI chr14:18,841,289...19,293,297
Ensembl chr14:18,845,159...19,272,883
G
Sncg
synuclein, gamma
ISO IEP
mRNA, protein:decreased expression:optic nerve
RGD
PMID:18728752 PMID:11933054
RGD:6218971 , RGD:6480100
NCBI chr16:9,700,513...9,705,751
Ensembl chr16:9,700,514...9,705,368
G
Sqstm1
sequestosome 1
IEP
protein:increased expression:optic nerve
RGD
PMID:24136224
RGD:13782046
NCBI chr10:34,525,517...34,536,670
Ensembl chr10:34,525,519...34,536,673
G
Tdrd7
tudor domain containing 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21436445
NCBI chr 5:60,238,742...60,312,548
Ensembl chr 5:60,238,678...60,312,544
G
Tgfb2
transforming growth factor, beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20375339
NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
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Tnf
tumor necrosis factor
IEP ISO IMP
protein:increased expression:retina
RGD
PMID:20574020 PMID:17151265 PMID:22802951 PMID:20574020
RGD:7394760 , RGD:7394785 , RGD:7394770 , RGD:7394760
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Txn1
thioredoxin 1
IEP
protein:decreased expression:retinal ganglion cell
RGD
PMID:18701913
RGD:2306193
NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629
G
Txnip
thioredoxin interacting protein
IEP
protein:increased expression:retinal ganglion cell
RGD
PMID:18701913
RGD:2306193
NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886
G
Vegfa
vascular endothelial growth factor A
IEP IMP
protein:increased expression:retina:
RGD
PMID:18728749 PMID:23416159
RGD:7421595 , RGD:7421614
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
G
Wdr36
WD repeat domain 36
susceptibility
ISO
DNA:polymorphism:exon:rs10038177(human) DNA:polymorphisms:cds:p.I264V,c.1965-30A>G(human) DNA:haplotype::rs13153937, rs10038177, rs11241095 (human)
RGD
PMID:22025897 PMID:17960130 PMID:19347049
RGD:8548460 , RGD:8548462 , RGD:8548461
NCBI chr18:24,473,657...24,501,773
Ensembl chr18:24,473,663...24,508,092
G
Zeb1
zinc finger E-box binding homeobox 1
ISO
ClinVar Annotator: match by term: Glaucoma
ClinVar
PMID:25741868
NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214
G
Fastkd1
FAST kinase domains 1
ISO
ClinVar Annotator: match by term: Glaucoma 1, open angle, B
ClinVar
NCBI chr 3:54,449,710...54,475,624
Ensembl chr 3:54,449,711...54,475,540
G
Myoc
myocilin
ISO
ClinVar Annotator: match by term: Glaucoma 1, open angle, E
ClinVar
PMID:9535666 PMID:9804137 PMID:10545602 PMID:10798654 PMID:10980537 PMID:11298682 PMID:11604506 PMID:11774072 PMID:12189160 PMID:14688426 PMID:15851979 PMID:16466712 PMID:17438518 PMID:17615537 PMID:18776955 PMID:19145250 PMID:21552496 PMID:21612213 PMID:21850185 PMID:22933836 PMID:25741868 PMID:28492532 PMID:35196929 More...
NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127
G
Optn
optineurin
ISO
ClinVar Annotator: match by term: Glaucoma 1, open angle, E | ClinVar Annotator: match by term: Glaucoma 1, open angle, e
ClinVar
PMID:11834836 PMID:11978762 PMID:12208142 PMID:12939304 PMID:14597044 PMID:15226658 PMID:15312511 PMID:15326130 PMID:15370540 PMID:15547491 PMID:15557444 PMID:15761120 PMID:16148883 PMID:16199547 PMID:16205626 PMID:16619239 PMID:16885925 PMID:17293779 PMID:17359525 PMID:17389490 PMID:19145250 PMID:19172505 PMID:19672125 PMID:20428114 PMID:20671613 PMID:20981092 PMID:21217154 PMID:21220178 PMID:22402017 PMID:22708870 PMID:22722621 PMID:22892313 PMID:22995991 PMID:23062601 PMID:24683533 PMID:25333069 PMID:25741868 PMID:26467025 PMID:26566915 PMID:26740678 PMID:27485216 PMID:28492532 PMID:29411640 PMID:29525178 PMID:30519240 PMID:30739198 PMID:31108397 PMID:31198474 More...
NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
G
Asb10
ankyrin repeat and SOCS box-containing 10
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glaucoma 1, open angle, F
OMIM CTD ClinVar
PMID:10037570 PMID:22156576 PMID:25741868 PMID:28492532
NCBI chr 4:10,630,318...10,644,270
Ensembl chr 4:10,630,448...10,639,060
G
Wdr36
WD repeat domain 36
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glaucoma 1, open angle, G | ClinVar Annotator: match by term: WDR36-related condition
OMIM CTD ClinVar
PMID:15677485 PMID:16723468 PMID:17353431 PMID:17563723 PMID:18172102 PMID:19150991 PMID:22995991 PMID:25333069 PMID:25741868 PMID:28492532 More...
NCBI chr18:24,473,657...24,501,773
Ensembl chr18:24,473,663...24,508,092
G
Efemp1
EGF containing fibulin extracellular matrix protein 1
ISO
ClinVar Annotator: match by term: Glaucoma 1, open angle, H CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:26162006 PMID:28492532 PMID:34923728
NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018
G
Ntf4
neurotrophin 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glaucoma 1, open angle, O
OMIM CTD ClinVar
PMID:19765683 PMID:20215012 PMID:20463313 PMID:25741868 PMID:27535533
NCBI chr 1:95,893,560...95,896,391
Ensembl chr 1:95,893,457...95,897,243
G
Tbk1
TANK-binding kinase 1
ISO
ClinVar Annotator: match by term: Glaucoma 1, open angle, P
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 7:57,077,830...57,110,868
Ensembl chr 7:57,077,830...57,110,892
G
Cyp1b1
cytochrome P450, family 1, subfamily b, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Primary congenital glaucoma type 3B
CTD ClinVar
PMID:9097971 PMID:9463332 PMID:9497261 PMID:10227395 PMID:10426814 PMID:10739169 PMID:11403040 PMID:11527932 PMID:11774072 PMID:11980847 PMID:12036985 PMID:12372064 PMID:12525557 PMID:12598442 PMID:15037581 PMID:15342693 PMID:15621878 PMID:16384942 PMID:16735994 PMID:17164573 PMID:17563717 PMID:17591938 PMID:17893647 PMID:18055790 PMID:18227148 PMID:18414103 PMID:18470941 PMID:18537981 PMID:18622259 PMID:18852424 PMID:19234632 PMID:19247456 PMID:19597567 PMID:19643970 PMID:19744731 PMID:19793111 PMID:20151268 PMID:21081970 PMID:21572728 PMID:21600657 PMID:21850185 PMID:21854771 PMID:22004014 PMID:22942166 PMID:23218183 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24227805 PMID:24281366 PMID:25091052 PMID:25109919 PMID:25527694 PMID:25646030 PMID:25741868 PMID:25950505 PMID:25978063 PMID:26550445 PMID:26550974 PMID:26997785 PMID:27060699 PMID:27243976 PMID:27272408 PMID:27777502 PMID:27820421 PMID:28448622 PMID:28492532 PMID:28644236 PMID:31024815 PMID:32224865 PMID:32476818 PMID:32499604 PMID:32832252 More...
NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
G
Ltbp2
latent transforming growth factor beta binding protein 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glaucoma 3, primary infantile, B
CTD ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19361779 PMID:22025892 PMID:23401661 PMID:25741868 PMID:27409795 PMID:28492532 More...
NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208
G
Tek
TEK receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804
G
Dap3
death associated protein 3
ISO
ClinVar Annotator: match by term: Grange syndrome
ClinVar
PMID:25741868
NCBI chr 2:174,319,341...174,347,489
Ensembl chr 2:174,318,983...174,346,461
G
Adamts13
ADAM metallopeptidase with thrombospondin type 1 motif, 13
ISO
protein:decreased activity:plasma (human)
RGD
PMID:12969811
RGD:10449045
NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
G
Ahsp
alpha hemoglobin stabilizing protein
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:18347943
RGD:329956422
NCBI chr 1:182,879,901...182,885,508
Ensembl chr 1:182,880,076...182,885,506
G
Cd40lg
CD40 ligand
ISO
protein:increased expression:blood platelet (human)
RGD
PMID:23241952
RGD:11522719
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
RGD
PMID:9158311
RGD:1580990
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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Fas
Fas cell surface death receptor
susceptibility
ISO IEP
DNA:SNP:promoter:-670A>G(rs1800682)(human) protein,mRNA:altered expression:placenta, liver:
RGD
PMID:30066360 PMID:28501275
RGD:14700669 , RGD:14700673
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
G
Faslg
Fas ligand
susceptibility
ISO IEP
DNA:SNP:intron:124A>G(rs5030772)(human) protein:altered expression:blood, placenta, liver:
RGD
PMID:30066360 PMID:28501275
RGD:14700669 , RGD:14700673
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
G
Sars1
seryl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:196,065,543...196,081,240
Ensembl chr 2:196,065,430...196,081,277
G
Sars2
seryl-tRNA synthetase 2, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism 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 CTD 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 chr 1:84,028,972...84,040,725
Ensembl chr 1:84,028,986...84,040,725
G
Cyp1b1
cytochrome P450, family 1, subfamily b, polypeptide 1
ISO
DNA:insertion, deletions:exons, intron:g.1209_1214insC, g.1410_1422del, g.1389-?-1422+?del (human)
RGD
PMID:9097971
RGD:1599716
NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
G
Flt1
Fms related receptor tyrosine kinase 1
ISO
RGD
PMID:22426483
RGD:8549773
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
G
Kdr
kinase insert domain receptor
ISO
RGD
PMID:22426483
RGD:8549773
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
G
Pde3a
phosphodiesterase 3A
ISO
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 chr 4:174,172,804...174,443,944
Ensembl chr 4:174,172,868...174,438,274
G
Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
DNA:deletion:cds: (human)
RGD
PMID:19279659
RGD:7495846
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
G
Nos3
nitric oxide synthase 3
ISO
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 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Ptprd
protein tyrosine phosphatase, receptor type, D
susceptibility
ISO
associated with coronary artery disease;DNA:SNP:intron: (rs324498) (human)
RGD
PMID:30237584
RGD:401976431
NCBI chr 5:90,046,993...90,698,977 NCBI chr 5:91,122,354...91,641,754
Ensembl chr 5:90,048,966...92,369,396
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Nr3c2
nuclear receptor subfamily 3, group C, member 2
ISO
CTD Direct Evidence: marker/mechanism 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
OMIM CTD ClinVar
PMID:10884226 PMID:15126534 PMID:16757525 PMID:22463955 PMID:25741868 PMID:28492532 More...
NCBI chr19:30,715,634...31,059,885
Ensembl chr19:30,715,648...31,059,885
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Agt
angiotensinogen
treatment
IEP
RGD
PMID:22089474
RGD:8548895
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Agtr1a
angiotensin II receptor, type 1a
treatment
IMP
RGD
PMID:22089474
RGD:8548895
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Cfl1
cofilin 1
IEP
protein:increased phosphorylation:kidney (rat)
RGD
PMID:26450610
RGD:11520804
NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587
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Col1a1
collagen type I alpha 1 chain
IEP
mRNA:increased expression:juxtamedullary cortex (rat)
RGD
PMID:17977875
RGD:2290351
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Hp
haptoglobin
treatment
IEP
RGD
PMID:24029866
RGD:11041817
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Mmp2
matrix metallopeptidase 2
ameliorates
IMP
RGD
PMID:37643020
RGD:401827835
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp2em2Mcwi
matrix metallopeptidase 2; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
ameliorates
IMP
RGD
PMID:37643020
RGD:401827835
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Nppb
natriuretic peptide B
IMP
RGD
PMID:26063669
RGD:12910116
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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Nppbem2Mcwi
natriuretic peptide B; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
IMP
RGD
PMID:26063669
RGD:12910116
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Postn
periostin
disease_progression
IEP
mRNA,protein:increased expression:kidney:
RGD
PMID:22403621
RGD:10041032
NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099
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Ppara
peroxisome proliferator activated receptor alpha
IDA
Strain: SHRSP
RGD
PMID:20671072
RGD:5509943
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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Rag1
recombination activating 1
ameliorates
IMP
RGD
PMID:23364523 PMID:23364523
RGD:7207429 , RGD:7207429
NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
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Rag1em1Mcwi
recombination activating gene 1; zinc finger nuclease induced mutant 1, Medical College of Wisconsin
ameliorates
IMP
RGD
PMID:23364523
RGD:7207429
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Shc1
SHC adaptor protein 1
IMP IEP
protein:increased expression:kidney
RGD
PMID:27270176 PMID:27270176
RGD:12792230 , RGD:12792230
NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536
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Shc1em5Mcwi
SHC adaptor protein 1; ZFN induced mutant 5, Medical College of Wisconsin
IMP
RGD
PMID:27270176
RGD:12792230
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Sirt6
sirtuin 6
ISO
protein:decreased expression:kidney
RGD
PMID:30894089
RGD:155260334
NCBI chr 7:8,082,312...8,087,776
Ensembl chr 7:8,082,364...8,098,914
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Ace
angiotensin I converting enzyme
treatment severity
IMP ISO
protein:increased expression:nephron tubule, kidney interstitium (human)
RGD
PMID:10580398 PMID:21346373
RGD:12879397 , RGD:40818408
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Ace2
angiotensin converting enzyme 2
severity
ISO
mRNA, protein:decreased expression, increased expression:nephron tubule, kidney interstitium (human)
RGD
PMID:21346373
RGD:40818408
NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
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Mir214
microRNA 214
ISO
RNA:increased expression:kidney
RGD
PMID:30049682
RGD:38500245
NCBI chr13:74,588,374...74,588,481
Ensembl chr13:74,588,372...74,588,481
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Crp
C-reactive protein
ISO
protein:increased expression:blood:
RGD
PMID:21091359
RGD:9491786
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Sox17
SRY-box transcription factor 17
treatment
ISO
RGD
PMID:36200131
RGD:329853320
NCBI chr 5:15,016,660...15,022,228
Ensembl chr 5:15,016,731...15,022,228
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Apob
apolipoprotein B
ISO
ClinVar Annotator: match by term: Isolated systolic hypertension
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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Bscl2
BSCL2 lipid droplet biogenesis associated, seipin
ISO
ClinVar Annotator: match by term: Isolated systolic hypertension
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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Cyp1b1
cytochrome P450, family 1, subfamily b, polypeptide 1
ISO
ClinVar Annotator: match by term: Glaucoma of childhood
ClinVar
PMID:9497261 PMID:10227395 PMID:15342693 PMID:16735994 PMID:18227148 PMID:18414103 PMID:18537981 PMID:21081970 PMID:21600657 PMID:21854771 PMID:23218183 PMID:23218701 PMID:24033266 PMID:25109919 PMID:25741868 PMID:27243976 PMID:27272408 PMID:27820421 PMID:28492532 PMID:32832252 More...
NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
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Efemp1
EGF containing fibulin extracellular matrix protein 1
ISO
ClinVar Annotator: match by term: Glaucoma of childhood
ClinVar
PMID:28492532 PMID:34923728
NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018
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Foxc1
forkhead box C1
ISO
ClinVar Annotator: match by term: Glaucoma of childhood
ClinVar
PMID:32832252
NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
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Ltbp2
latent transforming growth factor beta binding protein 2
ISO
ClinVar Annotator: match by term: Glaucoma of childhood
ClinVar
PMID:19361779 PMID:19656777 PMID:22025892 PMID:24033266 PMID:28492532
NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208
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Myoc
myocilin
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glaucoma 1, open angle, A | ClinVar Annotator: match by term: Glaucoma of childhood | ClinVar Annotator: match by term: MYOC-Related Disorders | ClinVar Annotator: match by term: Primary open angle glaucoma juvenile onset 1 DNA:snp:cds:pD380A (human) DNA:snp:cds:pC245Y (human) DNA:nonsense mutation, missense mutation, snps:exon, intron, 3' utr:multiple (human) DNA:missense mutations, nonsense mutation:cds:multiple (human) DNA:snp:cds:p.D384N (human) DNA:snp:cds:p.Y371D (human) DNA:snp:cds:p.N450Y (human) DNA:snp:cds:p.V251A (human) DNA:insertion:cds:p.D395_E396insDP (human) DNA:snps:cds:p.P370L, p.Y437H (human) DNA:snp:cds:pT377R (human)
OMIM CTD ClinVar RGD
PMID:3756132 PMID:6770678 PMID:8513321 PMID:9005853 PMID:9328473 PMID:9345106 PMID:9361308 PMID:9510647 PMID:9535666 PMID:9556305 PMID:9639450 PMID:9697688 PMID:9754180 PMID:9804137 PMID:10196380 PMID:10330365 PMID:10545602 PMID:10644174 PMID:10798654 PMID:10815160 PMID:10819638 PMID:10873982 PMID:10980537 PMID:11004290 PMID:11133859 PMID:11152659 PMID:11281418 PMID:11292420 PMID:11298682 PMID:11535458 PMID:11604506 PMID:11774072 PMID:11803488 PMID:11815346 PMID:12189160 PMID:12356829 PMID:12447164 PMID:12522550 PMID:12868033 PMID:12872267 PMID:14193667 PMID:14627955 PMID:14688426 PMID:14767915 PMID:15025728 PMID:15069026 PMID:15723004 PMID:15733270 PMID:15790895 PMID:15851979 PMID:16148883 PMID:16288197 PMID:16297911 PMID:16401791 PMID:16466712 PMID:16636654 PMID:17210859 PMID:17438518 PMID:17499207 PMID:17562996 PMID:17563717 PMID:17615537 PMID:17867509 PMID:17893664 PMID:18728751 PMID:18776955 PMID:19023451 PMID:19145250 PMID:19234343 PMID:20021252 PMID:21552496 PMID:21612213 PMID:21850185 PMID:22194650 PMID:22736945 PMID:22933836 PMID:23029558 PMID:23304066 PMID:23922489 PMID:24033266 PMID:24732711 PMID:24825108 PMID:25741868 PMID:25777973 PMID:26396484 PMID:26633542 PMID:27092720 PMID:27485216 PMID:28492532 PMID:30484747 PMID:32818018 PMID:35196929 PMID:35615698 PMID:17893668 PMID:16401791 PMID:17893664 PMID:12442283 PMID:19234343 PMID:19784393 PMID:20806035 PMID:23517641 PMID:23566828 PMID:9792882 PMID:23886590 More...
RGD:7401248 , RGD:7401247 , RGD:7401192 , RGD:7401186 , RGD:7394848 , RGD:7394834 , RGD:7394828 , RGD:7394800 , RGD:7394798 , RGD:7394788 , RGD:7394787
NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127
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Pax6
paired box 6
ISS
MouseDO
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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Adrb1
adrenoceptor beta 1
susceptibility
ISO
DNA:polymorphism:cds:p.R389G(human)
RGD
PMID:16785856
RGD:8548468
NCBI chr 1:255,771,962...255,774,973
Ensembl chr 1:255,771,597...255,807,259
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Apoe
apolipoprotein E
susceptibility
ISO
DNA:polymorphism:exon:
RGD
PMID:16778644
RGD:7495800
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Bdnf
brain-derived neurotrophic factor
ISO
protein:increased expression:tear:
RGD
PMID:19861219
RGD:8655604
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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Cav1
caveolin 1
no_association
ISO
DNA:SNP:promoter:rs4236601 (human)
RGD
PMID:23743525
RGD:8661774
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Cav2
caveolin 2
susceptibility
ISO
DNA:SNP: :rs1052990 (human)
RGD
PMID:23743525
RGD:8661774
NCBI chr 4:45,616,766...45,624,144
Ensembl chr 4:45,616,712...45,624,244
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Crp
C-reactive protein
no_association
ISO
protein:increased expression:plasma:
RGD
PMID:16148587 PMID:22966842
RGD:9491770 , RGD:9491771
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Edn1
endothelin 1
ISO
protein:increased expression:plasma (human)
RGD
PMID:21946544
RGD:8661736
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Hspd1
heat shock protein family D (Hsp60) member 1
IDA
RGD
PMID:20858111
RGD:10402863
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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Myoc
myocilin
susceptibility
ISO
DNA:Haplotype: :
RGD
PMID:16148883
RGD:7771548
NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127
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Optn
optineurin
susceptibility
ISO ISS
DNA:SNPs:exon,introns: DNA:polymorphism:exon:p.M98K(human) DNA:polymorphisms, haplotype:exons:c.412G>A,603T>A(human)
MouseDO RGD
PMID:16148883 PMID:15226658 PMID:15557444
RGD:7771548 , RGD:7775043 , RGD:7775041
NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
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Slc1a1
solute carrier family 1 member 1
ISO ISS
CTD Direct Evidence: marker/mechanism
CTD MouseDO
PMID:28703795
NCBI chr 1:226,549,932...226,631,925
Ensembl chr 1:226,549,842...226,630,402
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Slc1a3
solute carrier family 1 member 3
ISS
OMIM:606657
MouseDO
NCBI chr 2:57,755,495...57,830,605
Ensembl chr 2:57,755,497...57,830,605
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Sod1
superoxide dismutase 1
ISO ISS
protein:decreased expression:serum (human) OMIM:606657
MouseDO RGD
PMID:21421868
RGD:8655579
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Tlr4
toll-like receptor 4
susceptibility no_association
ISO
DNA:polymorphism,haplotype:multiple: DNA:polymorphisms:multiple:
RGD
PMID:22831837 PMID:21921986
RGD:7794768 , RGD:7794769
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tnf
tumor necrosis factor
ISO
DNA:polymorphism, haplotype:promoter: -863C>A (human)
RGD
PMID:15557444
RGD:7775041
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tp53
tumor protein p53
susceptibility
ISO
DNA:polymorphism:cds:p.R72P(rs1042522)(human)
RGD
PMID:20357201
RGD:7387247
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Adm
adrenomedullin
ISO
protein:increased expression:plasma
RGD
PMID:15284680
RGD:1625303
NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
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Agt
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2493837 PMID:27428043
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Cyp17a1
cytochrome P450, family 17, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3142437
NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
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Ren
renin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2493837
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:decreased expression:plasma
RGD
PMID:19222669
RGD:5686820
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Ltbp2
latent transforming growth factor beta binding protein 2
ISO
DNA:frameshift mutation:CDS:p.H1816PfsX28 (human) ClinVar Annotator: match by term: Microspherophakia
ClinVar RGD
PMID:19361779 PMID:19656777 PMID:20179738 PMID:20617341 PMID:21081970 PMID:22025892 PMID:25741868 PMID:27409795 PMID:28492532 PMID:20617341 More...
RGD:156451653
NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208
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Ltbp2
latent transforming growth factor beta binding protein 2
ISO
ClinVar Annotator: match by term: Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:19361779 PMID:19656777 PMID:20179738 PMID:21081970 PMID:22025892 PMID:25741868 PMID:28492532 More...
NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208
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Gpx3
glutathione peroxidase 3
ISO
protein:increased expression:plasma
RGD
PMID:8476834
RGD:401827852
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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Myrf
myelin regulatory factor
ISO
ClinVar Annotator: match by term: Nanophthalmos 1
ClinVar
NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157
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Cps1
carbamoyl-phosphate synthase 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pulmonary hypertension, neonatal, susceptibility to
CTD OMIM ClinVar
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: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 More...
NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
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Edn1
endothelin 1
ISO
protein:increased expression:aqueous humor (human)
RGD
PMID:20373895
RGD:8661689
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Il6
interleukin 6
disease_progression
ISO
associated with Retinal Vein Occlusion;protein:increased expression:aqueous humor:
RGD
PMID:10509659
RGD:7829814
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Vegfa
vascular endothelial growth factor A
ISO
associated with Diabetes Mellitus, type 2; protein:increased expression:aqueous humor of eyeball:
RGD
PMID:9852717
RGD:8547996
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Acta2
actin alpha 2, smooth muscle
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30818366
NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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Adrb1
adrenoceptor beta 1
disease_progression
ISO
associated with hypertension;DNA:missense mutations, haplotype:cds:p.S49G(rs1801252),p.R389G (rs1801253)(human):
RGD
PMID:19745105
RGD:7241815
NCBI chr 1:255,771,962...255,774,973
Ensembl chr 1:255,771,597...255,807,259
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Alox5
arachidonate 5-lipoxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30818366
NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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Alpk1
alpha-kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27542954
NCBI chr 2:216,126,939...216,247,180
Ensembl chr 2:216,128,825...216,247,157
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Col1a1
collagen type I alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30818366
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Col3a1
collagen type III alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30818366
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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Cxcl12
C-X-C motif chemokine ligand 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30818366
NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168
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Cxcr4
C-X-C motif chemokine receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30818366
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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Fgf2
fibroblast growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30818366
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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Hipk2
homeodomain interacting protein kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28318631
NCBI chr 4:67,439,327...67,619,223
Ensembl chr 4:67,440,501...67,619,223
G
Ltb4r
leukotriene B4 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30818366
NCBI chr15:29,263,199...29,265,716
G
Mthfr
methylenetetrahydrofolate reductase
ISO
DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)
RGD
PMID:21613384
RGD:6893469
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Ptgds
prostaglandin D2 synthase
ISO
associated with Hypertension;protein:increased expression:serum, urine
RGD
PMID:11882588
RGD:1642584
NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833
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S100a4
S100 calcium-binding protein A4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30818366
NCBI chr 2:176,090,951...176,093,258
Ensembl chr 2:176,091,804...176,093,254
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30818366
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Opa1
OPA1, mitochondrial dynamin like GTPase
ISO
DNA:polymorphism:intron:IVS8+32T>C (human) ClinVar Annotator: match by term: GLAUCOMA, NORMAL PRESSURE, SUSCEPTIBILITY TO CTD Direct Evidence: marker/mechanism DNA:splice-site mutations, deletion, missense mutation:introns, exon:multiple DNA:polymorphism:intron:IVS8+4C>T (human) DNA:SNPs, haplotype:intron:IVS8+4C>T, IVS8+32T>C (human)
OMIM ClinVar CTD RGD
PMID:9490303 PMID:9917792 PMID:11017079 PMID:11440988 PMID:11440989 PMID:11810270 PMID:12036970 PMID:14961560 PMID:15505825 PMID:16513463 PMID:18222991 PMID:20157015 PMID:20417570 PMID:20659957 PMID:20952381 PMID:21636302 PMID:21646330 PMID:22042570 PMID:22857269 PMID:23250881 PMID:23401657 PMID:24907432 PMID:25012220 PMID:25641387 PMID:25741868 PMID:26385429 PMID:26467025 PMID:28492532 PMID:28812649 PMID:32025183 PMID:33546218 PMID:33884488 PMID:34242285 PMID:17188046 PMID:19969356 PMID:11810296 PMID:12073024 More...
RGD:7800685 , RGD:7800712 , RGD:7800710 , RGD:7800687
NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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Optn
optineurin
ISO
ClinVar Annotator: match by term: Glaucoma, normal tension, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:11834836 PMID:11978762 PMID:12208142 PMID:15761120 PMID:16619239 PMID:25741868 PMID:28492532 More...
NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
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Acsm3
acyl-CoA synthetase medium-chain family member 3
IEP
mRNA, protein:increased expression:retina, muller cell
RGD
PMID:17102796
RGD:1601004
NCBI chr 1:174,133,260...174,159,966
Ensembl chr 1:174,133,288...174,160,184
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Apoa1
apolipoprotein A1
IEP
protein:increased expression:retina
RGD
PMID:18626730
RGD:2303613
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Aqp4
aquaporin 4
ISO
RGD
PMID:22943863
RGD:8698651
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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Bcl2l1
Bcl2-like 1
IEP
mRNA:increased expression:retina
RGD
PMID:17640403
RGD:1643493
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
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Bmp4
bone morphogenetic protein 4
ISO
RGD
PMID:11722794
RGD:8698668
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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C1qb
complement C1q B chain
IEP
mRNA:increased expression:retina
RGD
PMID:16677633
RGD:1599509
NCBI chr 5:149,118,843...149,124,394
Ensembl chr 5:149,118,846...149,124,407
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C3
complement C3
IEP
mRNA, protein:increased expression:retina
RGD
PMID:16677633
RGD:1599509
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
RGD
PMID:14985792
RGD:8661805
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Col1a1
collagen type I alpha 1 chain
ISO
RGD
PMID:19797236
RGD:8552669
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Cryaa
crystallin, alpha A
IEP
protein:decreased expression:retina
RGD
PMID:18626730
RGD:2303613
NCBI chr20:9,783,605...9,787,351
Ensembl chr20:9,783,605...9,787,349
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Cryba1
crystallin, beta A1
IEP
mRNA:decreased expression:retina
RGD
PMID:17102796
RGD:1601004
NCBI chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726
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Ddit3
DNA-damage inducible transcript 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24691439
NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
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Fas
Fas cell surface death receptor
IEP
protein:increased expression:retina, microglial cell
RGD
PMID:17045251
RGD:1600312
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Gli1
GLI family zinc finger 1
IEP
mRNA, protein:increased expression:retinal ganglion cell
RGD
PMID:20071678
RGD:2324982
NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251
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Mmp1
matrix metallopeptidase 1
treatment
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:20089869 PMID:20089869
RGD:8549723
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Mmp2
matrix metallopeptidase 2
IEP
mRNA, protein:increased expression:eye
RGD
PMID:19575923
RGD:2325732
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp9
matrix metallopeptidase 9
IEP
mRNA, protein:increased expression:eye
RGD
PMID:19575923
RGD:2325732
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Myoc
myocilin
treatment
ISO IEP
mRNA:decreased expression:eye, trabecular mesh (mouse) associated with Glaucoma, Primary Open Angle; DNA:snp:cds:p.T377M (human) mRNA:increased expression:retina (rat)
RGD
PMID:23322580 PMID:23322580 PMID:20107173 PMID:17102796
RGD:7394804 , RGD:7394804 , RGD:7394831 , RGD:1601004
NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17563720
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
G
Opa1
OPA1, mitochondrial dynamin like GTPase
IEP
mRNA, protein:increased expression:retina
RGD
PMID:21220562
RGD:7800684
NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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Sh3pxd2b
SH3 and PX domains 2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28719234
NCBI chr10:16,918,611...17,027,499
Ensembl chr10:16,918,679...17,005,170
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Shh
sonic hedgehog signaling molecule
IEP
RGD
PMID:20071678
RGD:2324982
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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Smo
smoothened, frizzled class receptor
IEP
mRNA, protein:increased expression:retinal ganglion cell
RGD
PMID:20071678
RGD:2324982
NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829
G
Sod1
superoxide dismutase 1
IEP
protein:decreased expression:retina
RGD
PMID:18626730
RGD:2303613
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Tpi1
triosephosphate isomerase 1
IEP
protein:decreased expression:retina
RGD
PMID:18626730
RGD:2303613
NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541
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Adrb2
adrenoceptor beta 2
severity
ISO
DNA:polymprphism:cds:p.Q27E(human)
RGD
PMID:16785856
RGD:8548468
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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Afap1
actin filament associated protein 1
susceptibility
ISO
DNA:SNPs: :rs4619890,rs4478172(human)
RGD
PMID:25173105
RGD:13673886
NCBI chr14:74,743,322...74,856,300
Ensembl chr14:74,743,320...74,856,263
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Apoc3
apolipoprotein C3
ISO
protein:increased expression: aqueous humor:
RGD
PMID:23860758
RGD:10054092
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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Apoe
apolipoprotein E
susceptibility
ISO
RGD
PMID:16110302
RGD:7495786
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Atxn2
ataxin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26752265
NCBI chr12:34,754,132...34,851,175
Ensembl chr12:34,754,137...34,851,479
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Cav1
caveolin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20835238
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
G
Cav2
caveolin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20835238
NCBI chr 4:45,616,766...45,624,144
Ensembl chr 4:45,616,712...45,624,244
G
Cdkn2b
cyclin-dependent kinase inhibitor 2B
disease_progression
ISO
DNA:SNP: :rs1063192 (human)
RGD
PMID:22840486
RGD:8548689
NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
G
Col1a1
collagen type I alpha 1 chain
ISO
RGD
PMID:15161848
RGD:8552673
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Fndc3b
fibronectin type III domain containing 3B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23291589
NCBI chr 2:110,311,439...110,617,504
Ensembl chr 2:110,312,694...110,547,830
G
Foxc1
forkhead box C1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26752265
NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
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Gmds
GDP-mannose 4, 6-dehydratase
susceptibility
ISO
DNA:SNPs: :rs11969985,rs2761233(human)
RGD
PMID:25173105
RGD:13673886
NCBI chr17:32,095,315...32,621,975
Ensembl chr17:32,095,386...32,621,961
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Il10
interleukin 10
ISO
RGD
PMID:23788371
RGD:7364852
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il2
interleukin 2
ISO
protein:decreased expression:aqueous humor
RGD
PMID:21834929
RGD:5147910
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Meis2
Meis homeobox 2
susceptibility
ISO
DNA:SNP::rs28480457(human)
RGD
PMID:29452408
RGD:155630591
NCBI chr 3:102,742,904...102,944,833
Ensembl chr 3:102,742,900...102,949,696
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Mthfr
methylenetetrahydrofolate reductase
susceptibility no_association
ISO
DNA:SNP: :677C>T(human) DNA:SNPs: : 677C>T, 1298A>C (human)
RGD
PMID:15808177 PMID:17558844
RGD:7387252 , RGD:7387254
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Myoc
myocilin
ISO ISS
DNA:missense mutation:cds:p.K423E (human) OMIM:137750 | OMIM:177700 | OMIM:602429 | OMIM:603383 | OMIM:606689 | OMIM:608695 | OMIM:608696 | OMIM:609745 | OMIM:609887 | OMIM:610535 | OMIM:611274 | OMIM:611276 | OMIM:613100 ClinVar Annotator: match by term: Open-angle glaucoma CTD Direct Evidence: marker/mechanism
MouseDO ClinVar CTD RGD
PMID:9535666 PMID:9772276 PMID:10196380 PMID:11004290 PMID:11133859 PMID:11803488 PMID:12356829 PMID:12442283 PMID:12872267 PMID:14764620 PMID:16636654 PMID:19145250 PMID:21059646 PMID:21552496 PMID:21850185 PMID:22736945 PMID:22933836 PMID:23922489 PMID:25741868 PMID:26633542 PMID:28492532 PMID:35196929 PMID:12860809 More...
RGD:7401194
NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127
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Optn
optineurin
no_association
ISO
CTD Direct Evidence: marker/mechanism DNA:missense mutations, SNP: :multiple DNA:polymorphism: :p.M98K (human)
CTD RGD
PMID:21059646 PMID:25096716 PMID:11834836 PMID:19096531 PMID:14627677 PMID:16020311 More...
RGD:1600995 , RGD:6480513 , RGD:6480510 , RGD:6480509
NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
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Pon1
paraoxonase 1
ISO
DNA:missense mutations:cds:p.L55M, p.Q192R (human)
RGD
PMID:16411107
RGD:8547552
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16330497
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Tap1
transporter 1, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:SNPs: :p. I333V, D637G (human)
RGD
PMID:15887980
RGD:6482266
NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
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Tmco1
transmembrane and coiled-coil domains 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21532571
NCBI chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555
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Tnf
tumor necrosis factor
susceptibility
ISO
DNA:SNP: :-308G>A(rs1800629)(human)
RGD
PMID:20357201
RGD:7387247
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Txnrd2
thioredoxin reductase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26752265
NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156
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Wdr36
WD repeat domain 36
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21059646
NCBI chr18:24,473,657...24,501,773
Ensembl chr18:24,473,663...24,508,092
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6430548M08Rikl
RIKEN cDNA 6430548M08 gene like
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:48,168,651...48,216,571
Ensembl chr19:48,198,209...48,216,575
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Adad2
adenosine deaminase domain containing 2
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,665,288...47,669,433
Ensembl chr19:47,665,309...47,669,436
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Atp2c2
ATPase secretory pathway Ca2+ transporting 2
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,754,120...47,811,369
Ensembl chr19:47,754,120...47,811,368
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C19h16orf74
similar to human chromosome 16 open reading frame 74
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:48,660,288...48,686,287
Ensembl chr19:48,660,288...48,686,349
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C19h16orf95
similar to human chromosome 16 open reading frame 95
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:49,605,818...49,618,466
Ensembl chr19:49,605,818...49,618,702
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Cibar2
CBY1 interacting BAR domain containing 2
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:48,217,617...48,229,418
Ensembl chr19:48,215,486...48,229,404
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Cotl1
coactosin-like F-actin binding protein 1
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,871,689...47,906,010
Ensembl chr19:47,871,694...47,911,689
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Cox4i1
cytochrome c oxidase subunit 4i1
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:48,721,680...48,727,920
Ensembl chr19:48,721,199...48,727,921
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Cps1
carbamoyl-phosphate synthase 1
ISO
CACD, OMIM:265380, DNA:polymorphism:T1405N CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11407344 PMID:11407344
RGD:1600716
NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
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Crispld2
cysteine-rich secretory protein LCCL domain containing 2
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:48,053,153...48,111,485
Ensembl chr19:48,053,287...48,110,465
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Dnaaf1
dynein, axonemal, assembly factor 1
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,624,534...47,652,314
Ensembl chr19:47,624,181...47,652,313
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Emc8
ER membrane protein complex subunit 8
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:48,708,304...48,721,626
Ensembl chr19:48,582,574...48,721,543
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Fbxo31
F-box protein 31
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:49,624,813...49,656,052
Ensembl chr19:49,627,686...49,656,010
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Fendrr
FOXF1 adjacent non-coding developmental regulatory RNA
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
PMID:25741868
NCBI chr19:49,127,225...49,152,780
Ensembl chr19:49,121,214...49,153,240
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Foxc2
forkhead box C2
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737
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Foxf1
forkhead box F1
ISO ISS
OMIM:265380 CTD Direct Evidence: marker/mechanism 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 MouseDO CTD ClinVar
PMID:15520767 PMID:19500772 PMID:23505205 PMID:24033266 PMID:25741868 PMID:27071622 PMID:27439648 PMID:28469849 PMID:28492532 PMID:30380203 More...
NCBI chr19:49,153,949...49,157,741
Ensembl chr19:49,153,699...49,157,738
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Foxl1
forkhead box L1
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:49,197,269...49,200,682
Ensembl chr19:49,197,400...49,198,425
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Gins2
GINS complex subunit 2
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:48,626,770...48,639,523
Ensembl chr19:48,626,770...48,639,339
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Gse1
Gse1 coiled-coil protein
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:48,274,164...48,629,456
Ensembl chr19:48,274,127...48,629,458
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Hsdl1
hydroxysteroid dehydrogenase like 1
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,615,794...47,631,892
Ensembl chr19:47,615,796...47,631,846
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Irf8
interferon regulatory factor 8
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829
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Itgam
integrin subunit alpha M
ISO
DNA:missense mutation:CDS:p.E1071D (human)
RGD
PMID:32054482
RGD:329853760
NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
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Jph3
junctophilin 3
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:49,793,967...49,855,338
Ensembl chr19:49,793,092...49,855,338
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Kcng4
potassium voltage-gated channel modifier subfamily G member 4
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,677,307...47,689,410
Ensembl chr19:47,677,327...47,689,268
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Klhl36
kelch-like family member 36
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,921,590...47,942,627
Ensembl chr19:47,921,590...47,942,620
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Map1lc3b
microtubule-associated protein 1 light chain 3 beta
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:49,665,795...49,673,655
Ensembl chr19:49,665,791...49,677,690
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Mbtps1
membrane-bound transcription factor peptidase, site 1
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,561,598...47,612,769
Ensembl chr19:47,561,598...47,612,791
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Meak7
MTOR associated protein, eak-7 homolog
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,813,899...47,836,830
Ensembl chr19:47,811,416...47,841,278
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Mlycd
malonyl-CoA decarboxylase
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,447,931...47,463,794
Ensembl chr19:47,447,970...47,463,793
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Mthfsd
methenyltetrahydrofolate synthetase domain containing
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:49,164,266...49,178,233
Ensembl chr19:49,167,183...49,178,232
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Necab2
N-terminal EF-hand calcium binding protein 2
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,501,351...47,527,722
Ensembl chr19:47,501,302...47,527,684
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Nos3
nitric oxide synthase 3
ISS
OMIM:265380
MouseDO
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Osgin1
oxidative stress induced growth inhibitor 1
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,471,750...47,500,517
Ensembl chr19:47,492,171...47,500,516
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Pten
phosphatase and tensin homolog
ISS
OMIM:265380
MouseDO
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Slc38a8
solute carrier family 38, member 8
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,522,781...47,561,443
Ensembl chr19:47,525,301...47,554,726
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Stra6
signaling receptor and transporter of retinol STRA6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17273977
NCBI chr 8:58,548,899...58,568,861
Ensembl chr 8:58,549,736...58,568,860
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Taf1c
TATA-box binding protein associated factor, RNA polymerase 1 subunit C
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,652,451...47,658,971
Ensembl chr19:47,652,452...47,658,971
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Usp10
ubiquitin specific peptidase 10
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,972,858...48,014,900
Ensembl chr19:47,972,611...48,014,897
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Wfdc1
WAP four-disulfide core domain 1
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,720,191...47,739,121
Ensembl chr19:47,720,423...47,739,108
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Zcchc14
zinc finger CCHC-type containing 14
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:49,674,185...49,718,004
Ensembl chr19:49,674,195...49,718,029
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Zdhhc7
zinc finger DHHC-type palmitoyltransferase 7
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:48,139,309...48,156,673
Ensembl chr19:48,139,527...48,156,673
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Col18a1
collagen type XVIII alpha 1 chain
ISS
OMIM:600510
MouseDO
NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593
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Gpnmb
glycoprotein nmb
ISS
OMIM:600510
MouseDO
NCBI chr 4:78,010,247...78,031,491
Ensembl chr 4:78,010,197...78,049,367
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Ace
angiotensin I converting enzyme
onset
ISO
CTD Direct Evidence: marker/mechanism DNA:insertion/deletion:intron 16:
CTD RGD
PMID:17114810 PMID:20044877
RGD:40400703
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Acvr2b
activin A receptor type 2B
ISO
protein:increased expression:placenta (human)
RGD
PMID:27176145
RGD:329853749
NCBI chr 8:119,138,901...119,178,477
Ensembl chr 8:119,138,812...119,170,458
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Add1
adducin 1
ISO
mRNA:increased expression:blood
RGD
PMID:19731222
RGD:5147993
NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182
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Agt
angiotensinogen
ISO
DNA:polymorphism: :p.M235T (human) ClinVar Annotator: match by term: Preeclampsia, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:1394429 PMID:7649545 PMID:7883995 PMID:8348146 PMID:8513325 PMID:8518804 PMID:9259580 PMID:9421481 PMID:9831339 PMID:16059745 PMID:25741868 PMID:28492532 PMID:8513325 PMID:20530295 More...
RGD:1300394 , RGD:13432363
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Akr1c3
aldo-keto reductase family 1, member C3
treatment
ISO IEP
mRNA:decreased expression:blood:
RGD
PMID:19681734 PMID:25876805
RGD:10053633 , RGD:11541124
NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873
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Alb
albumin
severity
ISO
RGD
PMID:21923989
RGD:11035264
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Alkbh5
alkB homolog 5, RNA demethylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34995009
NCBI chr10:45,344,888...45,366,331
Ensembl chr10:45,343,395...45,366,331
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Anxa5
annexin A5
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19837457
NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
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Apela
apelin receptor early endogenous ligand
ISS
OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592
MouseDO
NCBI chr16:24,694,356...24,703,466
Ensembl chr16:24,694,324...24,703,465
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Arhgap45
Rho GTPase activating protein 45
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26095815
NCBI chr 7:9,674,873...9,690,286
Ensembl chr 7:9,674,897...9,690,268
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Arid1a
AT-rich interaction domain 1A
disease_progression
ISO
associated with Fetal Growth Retardation; protein:increased expression:placenta, nucleus (human)
RGD
PMID:32529396
RGD:243065143
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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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 4:33,506,992...33,544,630
Ensembl chr 4:33,506,992...33,544,630
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Atp2b1
ATPase plasma membrane Ca2+ transporting 1
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 7:33,735,595...33,845,226
Ensembl chr 7:33,735,871...33,843,295
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Atp2b2
ATPase plasma membrane Ca2+ transporting 2
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 4:146,894,602...147,208,060
Ensembl chr 4:146,896,332...147,140,665
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Atp2b3
ATPase plasma membrane Ca2+ transporting 3
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775
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Atp2b4
ATPase plasma membrane Ca2+ transporting 4
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr13:45,156,137...45,255,292
Ensembl chr13:45,156,146...45,255,246
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C3
complement C3
treatment
IDA
RGD
PMID:23685261
RGD:7411624
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Calb1
calbindin 1
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 5:29,375,624...29,402,532
Ensembl chr 5:29,375,642...29,402,431
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Ccl5
C-C motif chemokine ligand 5
IEP
protein:increased secretion:serum (rat)
RGD
PMID:19617880
RGD:2317272
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Ccn3
cellular communication network factor 3
ISO
protein:decreased expression:placenta (human)
RGD
PMID:16675545
RGD:1580971
NCBI chr 7:86,094,000...86,101,022
Ensembl chr 7:86,094,000...86,101,019
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Cd274
CD274 molecule
treatment
IEP
RGD
PMID:27277012
RGD:40886269
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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Cd40
CD40 molecule
ISO
protein:increased expression:blood, monocyte (human)
RGD
PMID:19221099
RGD:11520792
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
treatment
IMP ISO
protein:increased expression:blood platelet (human)
RGD
PMID:26310940 PMID:23241952
RGD:11056772 , RGD:11522719
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cd46
CD46 molecule
susceptibility no_association
ISO
DNA:missense mutation:cds:p.A304V (human)
RGD
PMID:21445332 PMID:25710174
RGD:6483459 , RGD:11352807
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
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Cdkn1c
cyclin-dependent kinase inhibitor 1C
ISS
OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592
MouseDO
NCBI chr 1:198,655,394...198,658,097
Ensembl chr 1:198,655,407...198,658,048
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Cebpa
CCAAT/enhancer binding protein alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34398343
NCBI chr 1:87,759,631...87,762,303
Ensembl chr 1:87,759,433...87,762,412
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Chi3l1
chitinase 3 like 1
ISO
protein:increased secretion:umbilical cord, serum (human)
RGD
PMID:18054022
RGD:4892664
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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Clu
clusterin
ISO
DNA:SNP:exon:866C>T (human)
RGD
PMID:15925890
RGD:1581195
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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Cmklr1
chemerin chemokine-like receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34398343
NCBI chr12:42,974,462...43,027,321
Ensembl chr12:42,974,410...43,028,129
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Comt
catechol-O-methyltransferase
ISS
OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592
MouseDO
NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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Corin
corin, serine peptidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr14:35,680,601...35,910,703
Ensembl chr14:35,681,304...35,909,503
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Cp
ceruloplasmin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18679377
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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Crebbp
CREB binding protein
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:33625689
RGD:153350159
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Cst3
cystatin C
ISO
protein:increased expression:plasma (human)
RGD
PMID:18197549
RGD:2314350
NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
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Cubn
cubilin
ISO
associated with late term delivery; mRNA:decreased expression:placenta (human)
RGD
PMID:32682061
RGD:401901078
NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231
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Cyp11b2
cytochrome P450, family 11, subfamily b, polypeptide 2
ISO
DNA:missense mutation:cds:p.V386A (human)
RGD
PMID:15569322
RGD:1576428
NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
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Cyp11b3
cytochrome P450, family 11, subfamily b, polypeptide 3
ISO
DNA:missense mutation:cds:p.V386A (human)
RGD
PMID:15569322
RGD:1576428
NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048
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Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
ISO
associated with hypoxia; protein:increased expression:placenta (human) mRNA:increased expression:placenta (human)
RGD
PMID:22871339 PMID:36477942
RGD:401901075 , RGD:401901174
NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383
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Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
ISO
associated with hypoxia; protein:increased expression:placenta (human) mRNA:increased expression:placenta (human)
RGD
PMID:22871339 PMID:36477942
RGD:401901075 , RGD:401901174
NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
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Cyp2j4
cytochrome P450, family 2, subfamily j, polypeptide 4
ISO IMP
mRNA:increased expression:placenta, decidua
RGD
PMID:23155181 PMID:23155181
RGD:7243127 , RGD:7243127
NCBI chr 5:111,179,981...111,207,490
Ensembl chr 5:111,178,703...111,244,794
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Cyp2r1
cytochrome P450, family 2, subfamily r, polypeptide 1
ISO
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 chr 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759
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Dab2ip
DAB2 interacting protein
ISO
mRNA, protein:decreased expression:placenta (human)
RGD
PMID:25604087
RGD:11553571
NCBI chr 3:18,915,290...19,086,282
Ensembl chr 3:18,915,290...19,086,280
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Ddah2
DDAH family member 2, ADMA-independent
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22285683
NCBI chr20:3,761,460...3,764,718
Ensembl chr20:3,761,465...3,764,511
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Dnah8
dynein, axonemal, heavy chain 8
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr20:8,692,939...8,946,780
Ensembl chr20:8,692,963...8,946,772
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Ebag9
estrogen receptor binding site associated antigen 9
ISO
protein:increased expression:decidua
RGD
PMID:17845206
RGD:2289846
NCBI chr 7:75,810,950...75,828,902
Ensembl chr 7:75,810,594...75,861,248
G
Ebi3
Epstein-Barr virus induced 3
ameliorates
IEP
RGD
PMID:31203154
RGD:213230155
NCBI chr 9:774,252...787,544
Ensembl chr 9:783,617...787,544
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Edn1
endothelin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25230003
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Edn2
endothelin 2
ISO
RGD
PMID:9015697
RGD:1580919
NCBI chr 5:133,751,316...133,756,814
Ensembl chr 5:133,751,217...133,756,814
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Eif3d
eukaryotic translation initiation factor 3, subunit D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34520790
NCBI chr 7:109,539,795...109,552,184
Ensembl chr 7:109,539,356...109,552,206
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Eng
endoglin
severity treatment
ISO IEP IDA
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 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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Entpd1
ectonucleoside triphosphate diphosphohydrolase 1
ISO
protein:decreased expression:abdominal fascia:
RGD
PMID:17469012
RGD:9685457
NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317
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Epas1
endothelial PAS domain protein 1
ISO
RGD
PMID:11159352
RGD:1580974
NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
G
Ephx1
epoxide hydrolase 1
ISO
DNA:polymorphism CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11283205 PMID:12173035 PMID:11283205
RGD:1601064
NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
RGD
PMID:9158311
RGD:1580990
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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Esr2
estrogen receptor 2
ISO
RGD
PMID:15894829
RGD:1581016
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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F2
coagulation factor II, thrombin
severity
ISO
DNA:polymorphism: :20210G>A(human)
RGD
PMID:16246971
RGD:6893628
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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F2r
coagulation factor II (thrombin) receptor
ISO
RGD
PMID:12161502
RGD:1581033
NCBI chr 2:26,869,343...26,885,856
Ensembl chr 2:26,868,404...26,885,870
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F3
coagulation factor III, tissue factor
ISO
associated with Fetal Death;protein:increased expression:plasma
RGD
PMID:19736615
RGD:11340220
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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F5
coagulation factor V
severity
ISO
DNA:mutation: :1691G>A(human)
RGD
PMID:16246971
RGD:6893628
NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317
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Fabp4
fatty acid binding protein 4
ISO
protein:increased expression:blood serum (human)
RGD
PMID:19573524
RGD:329845853
NCBI chr 2:91,580,879...91,585,567
Ensembl chr 2:91,580,885...91,585,578
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Fas
Fas cell surface death receptor
susceptibility
ISO
DNA:SNP:promoter:-670A>G (human) DNA:SNP:promoter:-670A>G(rs1800682)(human)
RGD
PMID:15695771 PMID:30066360
RGD:12903973 , RGD:14700669
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Faslg
Fas ligand
susceptibility
ISO
DNA:SNP:intron:124A>G(rs5030772)(human)
RGD
PMID:30066360
RGD:14700669
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Flt1
Fms related receptor tyrosine kinase 1
ISO
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 chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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Gamt
guanidinoacetate N-methyltransferase
ISO
mRNA:increased expression:placenta
RGD
PMID:31991880
RGD:329961300
NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778
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Gata2
GATA binding protein 2
onset
ISO
RGD
PMID:30659233
RGD:401850546
NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761
G
Gatm
glycine amidinotransferase
ISO
mRNA:increased expression:placenta
RGD
PMID:31991880
RGD:329961300
NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129
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Gc
GC, vitamin D binding protein
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:32682061
RGD:401901078
NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
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Gpx1
glutathione peroxidase 1
ISO
protein:decreased expression:placenta mRNA:decreased expression:placenta
RGD
PMID:20303587 PMID:18852388 PMID:28705740
RGD:401827170 , RGD:401827849 , RGD:401827825
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
G
Gpx3
glutathione peroxidase 3
ISO
protein:decreased expression:placenta mRNA:decreased expression:placenta
RGD
PMID:20303587 PMID:18852388 PMID:28705740
RGD:401827170 , RGD:401827849 , RGD:401827825
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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Gpx4
glutathione peroxidase 4
ISO
protein:decreased expression:placenta mRNA:decreased expression:placenta
RGD
PMID:20303587 PMID:18852388
RGD:401827170 , RGD:401827849
NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982
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Gsn
gelsolin
disease_progression
ISO
protein:decreased expression:blood plasma (human)
RGD
PMID:24239294
RGD:329337339
NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402
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Gstp1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:missense mutation:cds:p.I105V (human)
RGD
PMID:11826024
RGD:737707
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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H19
H19 imprinted maternally expressed transcript
ameliorates
IEP ISO
RNA:increased expression:placenta (human)
RGD
PMID:31203154 PMID:29522949
RGD:213230155 , RGD:242905198
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
protein:increased expression:chorionic villus (human)
RGD
PMID:22840297
RGD:155631283
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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Hmox1
heme oxygenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22197494
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Hnf1a
HNF1 homeobox A
susceptibility
ISO
associated with gestational diabetes;DNA:SNP:cd: p.I27L (rs1169288) (human)
RGD
PMID:31825269
RGD:329901812
NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
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Hp
haptoglobin
severity
ISO
protein:increased expression DNA:polymorphism
RGD
PMID:17220952 PMID:16879055
RGD:1626337 , RGD:1626343
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Hsd11b1
hydroxysteroid 11-beta dehydrogenase 1
susceptibility
ISO
DNA:SNPs,haplotype: (rs2235543,rs846910) (human)
RGD
PMID:23659736
RGD:329901926
NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
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Icam1
intercellular adhesion molecule 1
treatment
IMP
RGD
PMID:21830843
RGD:8547718
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Ido1
indoleamine 2,3-dioxygenase 1
ISS
OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592
MouseDO
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
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Il1rn
interleukin 1 receptor antagonist
ISO
protein:increased expression:serum (human)
RGD
PMID:21126355
RGD:6906962
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il6
interleukin 6
ameliorates
IEP
RGD
PMID:31203154
RGD:213230155
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Inhba
inhibin subunit beta A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17332518
NCBI chr17:49,091,635...49,111,573
Ensembl chr17:49,095,920...49,108,982
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Iscu
iron-sulfur cluster assembly enzyme
ISO
mRNA:decreased expression:chorionic villus (human)
RGD
PMID:22840297
RGD:155631283
NCBI chr12:42,852,305...42,858,150
Ensembl chr12:42,852,305...42,858,150
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Itga4
integrin subunit alpha 4
IEP
protein:increased expression:blood, granulocyte (rat)
RGD
PMID:10694336
RGD:9698441
NCBI chr 3:64,162,764...64,235,010
Ensembl chr 3:64,163,085...64,233,715
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Itgam
integrin subunit alpha M
ISO
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 chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
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Itpr1
inositol 1,4,5-trisphosphate receptor, type 1
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
G
Itpr2
inositol 1,4,5-trisphosphate receptor, type 2
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 4:179,028,594...179,434,657
Ensembl chr 4:179,027,281...179,404,164
G
Itpr3
inositol 1,4,5-trisphosphate receptor, type 3
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr20:5,136,968...5,202,339
Ensembl chr20:5,136,441...5,202,337
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Kcnn4
potassium calcium-activated channel subfamily N member 4
ISO
protein:decreased expression:umbilical artery,umbilical vein (human)
RGD
PMID:23261940
RGD:329955574
NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340
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Kiss1
KiSS-1 metastasis-suppressor
ISO
RGD
PMID:16952198
RGD:2292128
NCBI chr13:44,775,106...44,780,707
Ensembl chr13:44,774,823...44,780,612
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Lcn2
lipocalin 2
ISO
protein:increased expression:serum,urine
RGD
PMID:23957217
RGD:126781721
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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Lep
leptin
IEP
protein:decreased expression:plasma
RGD
PMID:16021089
RGD:5128718
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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Lepr
leptin receptor
IEP
protein:increased expression:placenta
RGD
PMID:16021089
RGD:5128718
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Mir126a
microRNA 126a
ISO
RNA:decreased expression:blood
RGD
PMID:30659233
RGD:401850546
NCBI chr 3:9,415,063...9,415,180
Ensembl chr 3:9,415,063...9,415,180
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Mir144
microRNA 144
ISO
miRNA:decreased expression:blood serum (human)
RGD
PMID:25017274
RGD:155882496
NCBI chr10:62,961,348...62,961,430
Ensembl chr10:62,961,348...62,961,430
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Mir148a
microRNA 148a
ameliorates
IEP
RGD
PMID:31203154
RGD:213230155
NCBI chr 4:80,333,762...80,333,858
Ensembl chr 4:80,333,762...80,333,858
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Mir152
microRNA 152
IEP
miRNA:increased expression:placenta
RGD
PMID:31114978
RGD:21066344
NCBI chr10:81,832,936...81,833,020
Ensembl chr10:81,832,936...81,833,020
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Mir155
microRNA 155
ISO
miRNA:increased expression:blood serum (human)
RGD
PMID:28700503
RGD:155882490
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mir15b
microRNA 15b
ISO
miRNA:decreased expression:blood serum (human)
RGD
PMID:25017274
RGD:155882496
NCBI chr 2:153,245,200...153,245,297
Ensembl chr 2:153,245,200...153,245,297
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Mir193a
microRNA 193a
ISO
miRNA:increased expression:blood serum (human)
RGD
PMID:25017274
RGD:155882496
NCBI chr10:64,672,343...64,672,454
Ensembl chr10:64,672,343...64,672,454
G
Mir204
microRNA 204
ISO
miRNA:increased expression:blood serum (human)
RGD
PMID:25017274
RGD:155882496
NCBI chr 1:220,316,931...220,317,040
Ensembl chr 1:220,316,931...220,317,040
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Mir210
microRNA 210
disease_progression severity
ISO
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 chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454
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Mir215
microRNA 215
HEP
miRNA:increased expression:blood serum (human)
RGD
PMID:25017274
RGD:155882496
NCBI chr13:96,851,440...96,851,536
G
Mir216a
microRNA 216a
ameliorates
IEP
RGD
PMID:31203154
RGD:213230155
NCBI chr14:102,524,105...102,524,210
Ensembl chr14:102,524,105...102,524,210
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Mir25
microRNA 25
ISO
miRNA:increased expression:blood serum (human)
RGD
PMID:25017274
RGD:155882496
NCBI chr12:17,042,932...17,043,015
Ensembl chr12:17,042,932...17,043,015
G
Mir296
microRNA 296
ISO
miRNA:increased expression:blood serum (human)
RGD
PMID:25017274
RGD:155882496
NCBI chr 3:163,051,838...163,051,915
Ensembl chr 3:163,051,838...163,051,915
G
Mir32
microRNA 32
ISO
miRNA:increased expression:blood serum (human)
RGD
PMID:25017274
RGD:155882496
NCBI chr 5:71,596,083...71,596,152
Ensembl chr 5:71,596,083...71,596,152
G
Mir423
microRNA 423
ISO
miRNA:increased expression:plasma
RGD
PMID:30587375
RGD:158014896
NCBI chr10:61,914,142...61,914,220
Ensembl chr10:61,914,133...61,914,226
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Mmp2
matrix metallopeptidase 2
ISO
mRNA, protein:decreased expression:placenta
RGD
PMID:17083831
RGD:2290399
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp9
matrix metallopeptidase 9
ISO
mRNA, protein:decreased expression:placenta
RGD
PMID:17083831 PMID:23776237
RGD:2290399 , RGD:13204787
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Nos3
nitric oxide synthase 3
treatment
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:29250138
RGD:13504712
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Notch2
notch receptor 2
ISS
OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592
MouseDO
NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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Nr1h3
nuclear receptor subfamily 1, group H, member 3
exacerbates
ISO
mRNA, protein:increased expression:placenta (human) mRNA:altered expression:placenta, adipose tissue (human)
RGD
PMID:28352810 PMID:20655109
RGD:401842369 , RGD:401850787
NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722
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Nsd1
nuclear receptor binding SET domain protein 1
ISO
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 chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
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Ogg1
8-oxoguanine DNA glycosylase
ISO
mRNA:increased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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Pdcd1
programmed cell death 1
treatment
ISO IEP
protein:increased expression:Treg cell
RGD
PMID:27277012 PMID:27277012
RGD:40886269 , RGD:40886269
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Pde5a
phosphodiesterase 5A
IMP
RGD
PMID:18538317
RGD:2314465
NCBI chr 2:210,858,515...211,003,480
Ensembl chr 2:210,858,063...210,999,701
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Peg10
paternally expressed 10
onset
ISO
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 4:32,842,441...32,855,639
Ensembl chr 4:32,848,493...32,852,621
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Pgf
placental growth factor
ISO IEP
RGD
PMID:21756887 PMID:20720407
RGD:6483577 , RGD:6483779
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
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Plaur
plasminogen activator, urokinase receptor
ISO
protein:increased expression:plasma
RGD
PMID:21722073
RGD:6484119
NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595
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Pml
PML nuclear body scaffold
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:20228380
RGD:41404689
NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971
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Pparg
peroxisome proliferator-activated receptor gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:34995009 PMID:15562025
RGD:1580687
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Proc
protein C, inactivator of coagulation factors Va and VIIIa
ISO
RGD
PMID:9065198
RGD:11564336
NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
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Ptgs1
prostaglandin-endoperoxide synthase 1
ISS
OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592
MouseDO
NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
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Ptpn2
protein tyrosine phosphatase, non-receptor type 2
disease_progression
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:27746364
RGD:155260325
NCBI chr18:61,229,012...61,294,662
Ensembl chr18:61,229,014...61,294,627
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Rarres2
retinoic acid receptor responder 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34398343
NCBI chr 4:77,522,549...77,525,733
Ensembl chr 4:77,522,535...77,525,556
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Rbp4
retinol binding protein 4
disease_progression
ISO
protein:increased expression:blood serum (human) protein:decreased expression:umbilical cord,blood serum (human)
RGD
PMID:21173508 PMID:21299359
RGD:329845578 , RGD:329845866
NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
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Robo1
roundabout guidance receptor 1
ISO
mRNA,protein:increased expression:placenta
RGD
PMID:22262697
RGD:243048428
NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203
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Robo4
roundabout guidance receptor 4
ISO
mRNA,protein:increased expression:placenta
RGD
PMID:22262697
RGD:243048428
NCBI chr 8:37,119,953...37,133,887
Ensembl chr 8:37,119,988...37,132,519
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphism:cds:HLA-DQB1*04 (human)
RGD
PMID:10960630
RGD:36174024
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-CE16
RT1 class I, locus CE16
susceptibility
ISO
DNA:SNPs::multiple DNA:polymorphism::HLA-A24:02(human)
RGD
PMID:19727231 PMID:33126849
RGD:401827097 RGD:401827098
NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563
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Ryr1
ryanodine receptor 1
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
G
Ryr2
ryanodine receptor 2
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
G
Ryr3
ryanodine receptor 3
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 3:99,431,755...99,979,125
Ensembl chr 3:99,432,505...99,704,961
G
S100g
S100 calcium binding protein G
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr X:31,705,853...31,708,422
Ensembl chr X:31,705,866...31,708,433
G
Scnn1a
sodium channel epithelial 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16555725
NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
G
Serpina1
serpin family A member 1
ISO
RGD
PMID:1852102
RGD:1643155
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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Serpine1
serpin family E member 1
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:blood:
CTD RGD
PMID:18679377 PMID:16952198
RGD:2292128
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Serpinf2
serpin family F member 2
ISO
protein:increased expression:urine
RGD
PMID:1334334
RGD:1625535
NCBI chr10:60,272,400...60,280,506
Ensembl chr10:60,272,400...60,281,243
G
Slc2a1
solute carrier family 2 member 1
ISO
mRNA:decreased expression:chorionic villus (human)
RGD
PMID:22840297
RGD:155631283
NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
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Stox1
storkhead box 1
no_association
ISO
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 chr20:30,598,284...30,666,371
Ensembl chr20:30,598,168...30,666,939
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Tfpi
tissue factor pathway inhibitor
ISO
protein:increased expression:plasma:
RGD
PMID:10078579
RGD:11060132
NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
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Timp1
TIMP metallopeptidase inhibitor 1
ISO
mRNA, protein:increased expression:placenta
RGD
PMID:17083831
RGD:2290399
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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Tlr3
toll-like receptor 3
IEP
protein:increased expression:placenta (rat)
RGD
PMID:19779466
RGD:5128769
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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Tlr4
toll-like receptor 4
ISO
RGD
PMID:16157088
RGD:1580682
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tnf
tumor necrosis factor
ameliorates
ISO IEP
RGD
PMID:15901845 PMID:31203154
RGD:1580314 , RGD:213230155
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
human protein in rat model
RGD
PMID:21505354
RGD:5131211
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
G
Trpv5
transient receptor potential cation channel, subfamily V, member 5
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 4:70,536,432...70,562,743
Ensembl chr 4:70,536,440...70,562,745
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Trpv6
transient receptor potential cation channel, subfamily V, member 6
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 4:70,507,347...70,523,013
Ensembl chr 4:70,507,348...70,523,017
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Uts2
urotensin 2
ISO
RGD
PMID:15866083
RGD:1580806
NCBI chr 5:161,450,846...161,456,235
Ensembl chr 5:161,450,846...161,456,237
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Vdr
vitamin D receptor
ISO
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 chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Vegfa
vascular endothelial growth factor A
ISO
mRNA:decreased expression:chorionic villus (human)
RGD
PMID:16517614 PMID:22840297
RGD:1580566 , RGD:155631283
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Stox1
storkhead box 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Preeclampsia/eclampsia 4
OMIM CTD ClinVar
PMID:15806103 PMID:17325670 PMID:33116287
NCBI chr20:30,598,284...30,666,371
Ensembl chr20:30,598,168...30,666,939
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Corin
corin, serine peptidase
ISO
ClinVar Annotator: match by term: Preeclampsia/eclampsia 5
OMIM ClinVar
PMID:22437503 PMID:24828501 PMID:25741868 PMID:28492532
NCBI chr14:35,680,601...35,910,703
Ensembl chr14:35,681,304...35,909,503
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Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
RGD
PMID:22534418
RGD:6771230
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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Ren
renin
ISO
protein:increased activity:blood plasma (human)
RGD
PMID:683663
RGD:125097480
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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Ace
angiotensin I converting enzyme
IEP
RGD
PMID:17977916
RGD:8548898
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Ace2
angiotensin converting enzyme 2
IEP
RGD
PMID:17977916
RGD:8548898
NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
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Agt
angiotensinogen
IEP
RGD
PMID:17977916
RGD:8548898
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Edn1
endothelin 1
no_association
ISO
DNA:transversion:exon:p.K198N rs5370 (human)
RGD
PMID:19730395 PMID:11593097
RGD:4145063 , RGD:4145070
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Gpx3
glutathione peroxidase 3
ISO
protein:increased expression:plasma
RGD
PMID:8244188
RGD:401827853
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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Hmox1
heme oxygenase 1
treatment
IEP
RGD
PMID:21383306
RGD:10755723
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Hp
haptoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Nos3
nitric oxide synthase 3
ISO
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 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Rbp4
retinol binding protein 4
ISO
protein:increased expression, decreased expression:blood serum, umbilical cord blood (human)
RGD
PMID:19708176
RGD:329849109
NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
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Tfpi
tissue factor pathway inhibitor
IEP
mRNA:decreased expression:aorta:
RGD
PMID:26104991
RGD:11062065
NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
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Tnf
tumor necrosis factor
treatment
IMP
RGD
PMID:18981324
RGD:13825265
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Acvr1
activin A receptor type 1
sexual_dimorphism
ISO
DNA:missense mutation:SNP:rs12997 (human)
RGD
PMID:32641001
RGD:329845517
NCBI chr 3:42,978,558...43,097,892
Ensembl chr 3:42,978,561...43,098,241
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Anapc2
anaphase promoting complex subunit 2
ISO
protein:increased expression:aqueous humor of eyeball (human)
RGD
PMID:29332228
RGD:14696671
NCBI chr 3:8,086,434...8,098,182
Ensembl chr 3:8,086,462...8,098,178
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Col18a1
collagen type XVIII alpha 1 chain
ISO
OMIM
NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593
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Myrf
myelin regulatory factor
ISO
DNA:mutations:multiple:
RGD
PMID:36129575
RGD:199225554
NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157
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Cyp1b1
cytochrome P450, family 1, subfamily b, polypeptide 1
ISO
ClinVar Annotator: match by term: Primary congenital glaucoma
ClinVar
PMID:9463332 PMID:9497261 PMID:10227395 PMID:10655546 PMID:11184479 PMID:11403040 PMID:11558822 PMID:11980847 PMID:12036985 PMID:12372064 PMID:12525557 PMID:14507861 PMID:14635112 PMID:15037581 PMID:15255109 PMID:15342693 PMID:16384942 PMID:16735994 PMID:17224759 PMID:17363580 PMID:17563717 PMID:17591938 PMID:18227148 PMID:18414103 PMID:18537981 PMID:18622259 PMID:18852424 PMID:19195637 PMID:19204079 PMID:19234632 PMID:19536304 PMID:20057908 PMID:20151268 PMID:20664688 PMID:20827438 PMID:21081970 PMID:21168818 PMID:21306220 PMID:21572728 PMID:21600657 PMID:21815720 PMID:21850185 PMID:21854771 PMID:22878448 PMID:22942166 PMID:23218183 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24227805 PMID:24940937 PMID:25018621 PMID:25091052 PMID:25109919 PMID:25261878 PMID:25527694 PMID:25741868 PMID:25826643 PMID:25950505 PMID:25952714 PMID:25978063 PMID:26550445 PMID:27060699 PMID:27243976 PMID:27272408 PMID:27508083 PMID:27820421 PMID:28492532 PMID:29556725 PMID:30108387 PMID:30662834 PMID:31024815 PMID:32830442 PMID:32832252 PMID:32860008 PMID:35085548 PMID:35170016 PMID:36076309 More...
NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
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Ltbp2
latent transforming growth factor beta binding protein 2
ISO
ClinVar Annotator: match by term: Primary congenital glaucoma
ClinVar
PMID:25741868
NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208
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Ltbp2
latent transforming growth factor beta binding protein 2
ISO
ClinVar Annotator: match by term: Glaucoma 3, primary congenital, D | ClinVar Annotator: match by term: Glaucoma 3, primary congenital, d CTD Direct Evidence: marker/mechanism DNA:frameshift mutations, nonsense mutations:CDS:multiple (human) DNA:nonsense mutation:CDS:p.W807X (human) DNA:missense mutations, frameshift mutation:CDS:p.D1010N, p.C1757Y, p.Q1143fs*35 (human) DNA:frameshift mutations:CDS:p.S472fsX3, p.Y1793fsX55 (human)
OMIM ClinVar CTD RGD
PMID:9536098 PMID:17576681 PMID:19361779 PMID:19656777 PMID:20179738 PMID:21081970 PMID:22025892 PMID:22924778 PMID:23218701 PMID:23378721 PMID:23401661 PMID:25741868 PMID:26425313 PMID:27293371 PMID:27409795 PMID:28492532 PMID:35170016 PMID:19361779 PMID:28384041 PMID:32165823 PMID:19656777 More...
RGD:156451378 , RGD:156451372 , RGD:156431215 , RGD:156431212
NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208
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Tek
TEK receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glaucoma 3, primary congenital, E | ClinVar Annotator: match by term: TEK-related condition
OMIM CTD ClinVar
PMID:25741868 PMID:27270174 PMID:28492532
NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804
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Acvr1
activin A receptor type 1
ISO
DNA:SNP:3'utr: (rs12997)
RGD
PMID:33443061
RGD:329328928
NCBI chr 3:42,978,558...43,097,892
Ensembl chr 3:42,978,561...43,098,241
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Adamts10
ADAM metallopeptidase with thrombospondin type 1 motif, 10
ISO
Glaucoma, primary open angle, ADAMTS10-related
OMIA
PMID:924743 PMID:1428571 PMID:2764345 PMID:2764346 PMID:2925324 PMID:3710885 PMID:7212410 PMID:7325430 PMID:7720807 PMID:18435660 PMID:21379321 PMID:22524196 PMID:23422823 PMID:23518772 PMID:25372548 PMID:26277300 PMID:26456751 PMID:27212875 PMID:27271467 PMID:27681326 PMID:29708978 PMID:36855027 PMID:37582787 PMID:38130820 More...
NCBI chr 7:14,331,659...14,361,620
Ensembl chr 7:14,331,745...14,361,620
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Adamts17
ADAM metallopeptidase with thrombospondin type 1 motif, 17
ISO
Glaucoma, primary open angle, ADAMTS17-related
OMIA
PMID:26277300 PMID:26456751 PMID:26474315 PMID:26683476 PMID:26945802 PMID:27192202 PMID:27681326 PMID:28176809 PMID:29287154 PMID:31131111 PMID:37582787 More...
NCBI chr 1:120,445,800...120,768,204
Ensembl chr 1:120,445,749...120,768,202
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
DNA:SNP: :rs2241766 (human)
RGD
PMID:22553514
RGD:8547563
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Adrb2
adrenoceptor beta 2
onset
ISO
DNA:polymprphism:cds:p.R16G(human)
RGD
PMID:16785856
RGD:8548468
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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Apoe
apolipoprotein E
no_association susceptibility
ISO
DNA:polymorphisms:promoter: DNA:polymorphism:exon:
RGD
PMID:15525904 PMID:17706090
RGD:7495787 , RGD:7771556
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Bdnf
brain-derived neurotrophic factor
ISO
protein:decreased expression:serum:
RGD
PMID:21076359
RGD:8655612
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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Camk1d
calcium/calmodulin-dependent protein kinase ID
ISO
ClinVar Annotator: match by term: Primary open angle glaucoma
ClinVar
PMID:28492532
NCBI chr17:72,581,899...72,982,704
Ensembl chr17:72,581,979...72,980,556
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Card10
caspase recruitment domain family, member 10
ISO
ClinVar Annotator: match by term: Primary open angle glaucoma
ClinVar
PMID:27896285
NCBI chr 7:110,330,460...110,371,551
Ensembl chr 7:110,330,408...110,359,224
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Cav1
caveolin 1
no_association
ISO
DNA:SNPs: :multiple DNA:SNP:promoter:rs4236601 (human)
RGD
PMID:24572674 PMID:20835238 PMID:22876122
RGD:8661770 , RGD:8661783 , RGD:8661776
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Cav2
caveolin 2
ISO
DNA:SNPs: :rs10278782, rs1052990 (human)
RGD
PMID:24572674
RGD:8661770
NCBI chr 4:45,616,766...45,624,144
Ensembl chr 4:45,616,712...45,624,244
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Ccdc3
coiled-coil domain containing 3
ISO
ClinVar Annotator: match by term: Primary open angle glaucoma
ClinVar
PMID:28492532
NCBI chr17:73,031,891...73,135,173
Ensembl chr17:73,035,045...73,135,337
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
susceptibility no_association
ISO
DNA:polymorphism:cds:p.S31R(human)
RGD
PMID:14738489 PMID:15807891
RGD:8661807 , RGD:8661806
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Col6a3
collagen type VI alpha 3 chain
ISO
DNA:SNP:CDS:D563, rs112913396 (human)
RGD
PMID:34143713
RGD:401851036
NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
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Cyp1b1
cytochrome P450, family 1, subfamily b, polypeptide 1
susceptibility severity
ISO
DNA:snp:cds:p.L432V (human) ClinVar Annotator: match by term: Primary open angle glaucoma DNA:snp, missense mutations, haplotype:promoter, cds:multiple (human) DNA:missense mutations:exons:p.P193L, p.E229K, p.M292K (human) DNA:snp:cds:p.N453S (human)
ClinVar RGD
PMID:10655546 PMID:15342693 PMID:18470941 PMID:19234632 PMID:22004014 PMID:24281366 PMID:25741868 PMID:26550445 PMID:27508083 PMID:27777502 PMID:28492532 PMID:30520782 PMID:18483560 PMID:18055790 PMID:17563717 PMID:16319821 More...
RGD:7800658 , RGD:7800696 , RGD:7800695 , RGD:7800664
NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
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Edn1
endothelin 1
ISO
protein:increased expression:plasma (human)
RGD
PMID:22406080
RGD:8661676
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Eln
elastin
ISO
RGD
PMID:1526740
RGD:9585735
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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Esr2
estrogen receptor 2
severity
ISO
DNA:SNPs, haplotypes DNA:snps:introns: IVS3 T>C, IVS8 A>G (rs1256031, rs4986938) (human)
RGD
PMID:18195227 PMID:20399928
RGD:8553056 , RGD:8694092
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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Glul
glutamate-ammonia ligase
ISO
protein:increases expression:aqueous humor
RGD
PMID:22974818
RGD:401794589
NCBI chr13:65,969,053...66,035,121
Ensembl chr13:66,025,630...66,035,108
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Gstm1
glutathione S-transferase mu 1
susceptibility no_association
ISO
DNA:deletion:cds (human)
RGD
PMID:11040079 PMID:12873455
RGD:7488947 , RGD:7488948
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstt1
glutathione S-transferase theta 1
susceptibility no_association
ISO
DNA:deletion, haplotype:cds (human) DNA:deletion:cds (human)
RGD
PMID:23747403 PMID:23206929 PMID:23827458
RGD:7794820 , RGD:7794825 , RGD:7794823
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Gucy1a1
guanylate cyclase 1 soluble subunit alpha 1
ISS
OMIM:137760
MouseDO
NCBI chr 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671
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Lamb2
laminin subunit beta 2
ISO
DNA:SNP:CDS:E987K, rs34759087 (human)
RGD
PMID:34143713
RGD:401851036
NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549
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Loxl1
lysyl oxidase-like 1
no_association
ISO
DNA:SNP, haplotype: :rs1048661, rs2165241, rs3825942 (human) DNA:SNPs: :rs1048661, rs2165241, rs3825942 (human)
RGD
PMID:19098994 PMID:18223248
RGD:7387330 , RGD:7394723
NCBI chr 8:58,691,763...58,716,365
Ensembl chr 8:58,692,593...58,716,356
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Ltbp2
latent transforming growth factor beta binding protein 2
ISO
ClinVar Annotator: match by term: Primary open angle glaucoma
ClinVar
PMID:23401661 PMID:25741868 PMID:26425313 PMID:28492532
NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208
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Mbl2
mannose binding lectin 2
ISO
protein:increased expression:serum:
RGD
PMID:22335808
RGD:8693705
NCBI chr 1:228,016,439...228,024,736
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Mcm10
minichromosome maintenance 10 replication initiation factor
ISO
ClinVar Annotator: match by term: Primary open angle glaucoma
ClinVar
PMID:28492532
NCBI chr17:73,263,788...73,288,346
Ensembl chr17:73,266,095...73,287,364
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Mmp1
matrix metallopeptidase 1
no_association
ISO
DNA:SNP:promoter:rs1799750 (human) DNA:insertion:promoter:g.-1607insG rs1799750 (human)
RGD
PMID:23441116 PMID:20808730
RGD:8549724 , RGD:8549725
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Mmp9
matrix metallopeptidase 9
no_association
ISO
DNA:insertion: :p.Q279R (rs17576) (human)
RGD
PMID:20808730
RGD:8549725
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Myoc
myocilin
severity no_association susceptibility
ISO
DNA:snp:promoter:g.-1000C>G (human) ClinVar Annotator: match by term: Primary open angle glaucoma protein:increased expression:aqueous humor DNA:snps:cds:p.A363T (human) DNA:snp:cds:pT377M (human) DNA:snps:cds:multiple (human) DNA:snps:promoter:g.-126T>G, g.-78T>G, g.-77G>A (human) DNA:snp:cds:p.G367R (human) DNA:snps, deletion:cds:p.G326S, p.T286R, p.Y453MfsX11 (human) DNA:snp:cds:p.G252R (human) DNA:snps:cds:p.G12R, p.V53A, p.T353I (human) DNA:snp:cds:p.Q48H (human) DNA:silent mutation, deletion:cds:p.F336F, c.1084delG (human) DNA:mutations:multiple (human) DNA:snps:cds:p.T209N, p.L215Q (human) Y437H;human gene in mouse model DNA:snps:cds:p.G357V, p.Q361X, p.Y430H (human)
ClinVar RGD
PMID:9005853 PMID:9639450 PMID:10815160 PMID:11004290 PMID:11292420 PMID:11535458 PMID:11803488 PMID:11815346 PMID:12189160 PMID:12522550 PMID:12872267 PMID:17562996 PMID:17615537 PMID:19023451 PMID:20021252 PMID:22933836 PMID:23029558 PMID:23304066 PMID:24732711 PMID:25741868 PMID:26396484 PMID:28492532 PMID:11595024 PMID:20179615 PMID:18334962 PMID:22328638 PMID:16431959 PMID:12215093 PMID:12189160 PMID:15483649 PMID:21655360 PMID:22879734 PMID:17197538 PMID:19145250 PMID:12447164 PMID:19688280 PMID:22736945 PMID:22933836 PMID:23453510 PMID:23876925 PMID:15623777 PMID:9535666 PMID:10196380 PMID:9005853 More...
RGD:1600842 , RGD:7401171 , RGD:7401254 , RGD:7401251 , RGD:7401245 , RGD:7401240 , RGD:7401189 , RGD:7401175 , RGD:7401170 , RGD:7401168 , RGD:7401164 , RGD:7401163 , RGD:7394843 , RGD:7394841 , RGD:7394816 , RGD:7394814 , RGD:7394801 , RGD:7394792 , RGD:7394791 , RGD:7394789 , RGD:1600838 , RGD:1600840
NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127
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Nos3
nitric oxide synthase 3
susceptibility no_association
ISO
associated with Hypertension;DNA:snp:promoter:g.-786T>C (rs2070744) (human) DNA:snps, haplotype:promoter, cds:g.-786T>C, p.E298D (human) DNA:snp:intron:g.IVS15+1759C>A (rs3918188) (human) DNA:snps, haplotype:promoter, intron:g.-457C>T, g.IVS5+1182G>A (rs11771443, rs3793342) (human) DNA:snp:promoter:g.-690C>T (human) DNA:duplication:intron:IVS4?-?+27 (human) High Tension;DNA:snps:promoter, intron:g.-786T>C, g.IVS15+1759C>A (rs3918188) (human)
RGD
PMID:21670344 PMID:22561696 PMID:21245953 PMID:21245953 PMID:9493554 PMID:20069064 PMID:19815736 More...
RGD:7771542 , RGD:7775055 , RGD:7775039 , RGD:7775039 , RGD:7771575 , RGD:7771573 , RGD:7771543
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Ogg1
8-oxoguanine DNA glycosylase
ISO
DNA:SNP: :p.S326C (human)
RGD
PMID:23499241
RGD:8657152
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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Opa1
OPA1, mitochondrial dynamin like GTPase
no_association
ISO
DNA:polymorphism:intron:IVS8+4C>T (human) DNA:SNPs: :rs166850, rs10451941 (human) mRNA:decreased expression:blood, leukocyte DNA:SNPs:exons, introns:multiple
RGD
PMID:17188046 PMID:18079692 PMID:21552501 PMID:16785854
RGD:7800685 , RGD:7800721 , RGD:7800718 , RGD:7800713
NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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Optn
optineurin
susceptibility no_association
ISO
DNA:polymorphisms, haplotype:exons:c.412G>A,603T>A(human) ClinVar Annotator: match by term: Primary open angle glaucoma DNA:SNPs:cds:p.T34T,E50K,M98K,R545Q, 691_692insAG, DNA:polymorphism:exon:p.M98K(human)
OMIM ClinVar RGD
PMID:9536098 PMID:11834836 PMID:11978762 PMID:12208142 PMID:12789137 PMID:12939304 PMID:14597044 PMID:15226658 PMID:15312511 PMID:15326130 PMID:15370540 PMID:15547491 PMID:15557444 PMID:15761120 PMID:16148883 PMID:16199547 PMID:16205626 PMID:16358725 PMID:16619239 PMID:16681888 PMID:16885925 PMID:16972651 PMID:17122126 PMID:17293779 PMID:17359525 PMID:17389490 PMID:17576681 PMID:17615537 PMID:19096531 PMID:19145250 PMID:19172505 PMID:19672125 PMID:19710941 PMID:20388642 PMID:20428114 PMID:20671613 PMID:20981092 PMID:21074290 PMID:21217154 PMID:21220178 PMID:21408173 PMID:21550138 PMID:21613650 PMID:21802176 PMID:21852022 PMID:22366792 PMID:22402017 PMID:22708870 PMID:22722621 PMID:22892313 PMID:22995991 PMID:23062601 PMID:23138764 PMID:23357852 PMID:23447461 PMID:24683533 PMID:24983867 PMID:25333069 PMID:25382069 PMID:25588603 PMID:25640679 PMID:25681989 PMID:25741868 PMID:25943890 PMID:26203661 PMID:26303227 PMID:26467025 PMID:26503823 PMID:26566915 PMID:26740678 PMID:27485216 PMID:27620379 PMID:28089114 PMID:28492532 PMID:28882891 PMID:29411640 PMID:29525178 PMID:29525180 PMID:29540704 PMID:29558868 PMID:29650794 PMID:29895397 PMID:30519240 PMID:30672142 PMID:30739198 PMID:31000212 PMID:31108397 PMID:31198474 PMID:31759189 PMID:31788332 PMID:31838784 PMID:32028661 PMID:32397312 PMID:32579787 PMID:32893042 PMID:33770234 PMID:35896380 PMID:36133075 PMID:36570531 PMID:15557444 PMID:19172505 PMID:15226658 More...
RGD:7775041 , RGD:7775049 , RGD:7775043
NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
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Pon1
paraoxonase 1
susceptibility
ISO
DNA:snp:cds:p.Q192R (rs662) (human)
RGD
PMID:22553514
RGD:8547563
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Sod2
superoxide dismutase 2
susceptibility
ISO
DNA:polymorphism: :rs2842980(human)
RGD
PMID:23638916
RGD:8158079
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Tbk1
TANK-binding kinase 1
ISO
ClinVar Annotator: match by term: Primary open angle glaucoma
ClinVar
PMID:25700176 PMID:25741868 PMID:25803835 PMID:26476236 PMID:26581300 PMID:28492532 More...
NCBI chr 7:57,077,830...57,110,868
Ensembl chr 7:57,077,830...57,110,892
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Thbs1
thrombospondin 1
ISO
DNA:SNP:CDS:N700S, rs2228262 (human)
RGD
PMID:34143713
RGD:401851036
NCBI chr 3:105,056,293...105,071,445
Ensembl chr 3:105,056,292...105,071,440
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Tlr4
toll-like receptor 4
susceptibility
ISO
DNA:polymorphism,haplotype:multiple:
RGD
PMID:22831837
RGD:7794768
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tnf
tumor necrosis factor
ISO
DNA:polymorphisms, haplotype:promoter:-857C>T, -863C>A (human)
RGD
PMID:15557444
RGD:7775041
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tp53
tumor protein p53
susceptibility
ISO
DNA:polymorphism:cds:p.R72P(human)
RGD
PMID:23049825
RGD:8547822
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Wdr36
WD repeat domain 36
no_association susceptibility
ISO
ClinVar Annotator: match by term: Primary open angle glaucoma DNA:polymorphism:cds:p.D658G DNA:polymorphisms:cds:p.D658G, N355S, A449T and R529Q (human)
ClinVar RGD
PMID:25741868 PMID:28492532 PMID:16723468 PMID:16876519 PMID:15677485
RGD:8548463 , RGD:8548466 , RGD:8548465
NCBI chr18:24,473,657...24,501,773
Ensembl chr18:24,473,663...24,508,092
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Abi2
abl-interactor 2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:61,827,186...61,905,703
Ensembl chr 9:61,827,139...61,905,699
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Acadl
acyl-CoA dehydrogenase, long chain
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:68,333,981...68,372,149
Ensembl chr 9:68,333,980...68,372,220
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Acvrl1
activin A receptor like type 1
ISO
ClinVar Annotator: match by term: Heritable pulmonary arterial hypertension
ClinVar
PMID:25741868 PMID:28492532 PMID:31727138
NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591
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Adam23
ADAM metallopeptidase domain 23
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:64,862,649...65,009,718
Ensembl chr 9:64,862,878...65,006,515
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Adora2a
adenosine A2a receptor
ISS
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
MouseDO
NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386
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Als2
alsin Rho guanine nucleotide exchange factor ALS2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074
NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
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Bmpr1b
bone morphogenetic protein receptor type 1B
ISO
ClinVar Annotator: match by term: Idiopathic pulmonary arterial hypertension
ClinVar
PMID:22374147 PMID:25741868 PMID:25758993 PMID:28492532
NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
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Bmpr2
bone morphogenetic protein receptor type 2
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension | ClinVar Annotator: match by term: Primary pulmonary hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, dexfenfluramine-associated | ClinVar Annotator: match by term: Pulmonary hypertension, primary, fenfluramine-associated OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
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: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:30957726 PMID:31727138 PMID:31797984 PMID:32368696 PMID:32581362 PMID:33066286 PMID:34400635 More...
NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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Carf
calcium responsive transcription factor
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:61,502,368...61,552,433
Ensembl chr 9:61,506,956...61,550,462
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Cav1
caveolin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Ccnyl1
cyclin Y-like 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:66,071,721...66,121,742
Ensembl chr 9:66,071,543...66,107,999
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Cd28
Cd28 molecule
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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Cdk15
cyclin-dependent kinase 15
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074
NCBI chr 9:60,710,787...60,803,638
Ensembl chr 9:60,711,715...60,802,777
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Cmklr2
chemerin chemokine-like receptor 2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:64,583,310...64,617,883
Ensembl chr 9:64,585,594...64,586,655
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Cpo
carboxypeptidase O
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:65,319,996...65,338,250
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Cps1
carbamoyl-phosphate synthase 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
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Creb1
cAMP responsive element binding protein 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
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Cryga
crystallin, gamma A
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:66,482,176...66,484,638
Ensembl chr 9:66,482,176...66,509,896
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Crygb
crystallin, gamma B
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:66,461,460...66,463,520
Ensembl chr 9:66,461,460...66,463,520
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Crygc
crystallin, gamma C
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:66,451,591...66,453,626
Ensembl chr 9:66,451,593...66,453,626
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Crygd
crystallin, gamma D
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:66,442,057...66,443,668
Ensembl chr 9:66,442,054...66,444,067
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Cyp20a1
cytochrome P450, family 20, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:61,755,804...61,805,123
Ensembl chr 9:61,755,790...61,805,123
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Dytn
dystrotelin
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:65,037,378...65,098,549
Ensembl chr 9:65,037,493...65,098,549
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Eef1b2
eukaryotic translation elongation factor 1 beta 2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:64,580,163...64,582,737
Ensembl chr 9:64,579,893...64,582,737
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Fam117b
family with sequence similarity 117, member B
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:61,340,284...61,418,531
Ensembl chr 9:61,340,249...61,408,483
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Fastkd2
FAST kinase domains 2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:65,166,148...65,188,184
Ensembl chr 9:65,168,228...65,188,174
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Fbxo32
F-box protein 32
ISO
mRNA:increased expression:vastus lateralis
RGD
PMID:23972212
RGD:329812002
NCBI chr 7:89,731,428...89,764,997
Ensembl chr 7:89,730,232...89,765,436
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Fgfr2
fibroblast growth factor receptor 2
ISO
protein:increased expression:lung (human)
RGD
PMID:29722558
RGD:155791445
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Foxf1
forkhead box F1
ISO
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 chr19:49,153,949...49,157,741
Ensembl chr19:49,153,699...49,157,738
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Fzd5
frizzled class receptor 5
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:66,113,096...66,120,276
Ensembl chr 9:66,113,112...66,121,457
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Fzd7
frizzled class receptor 7
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074
NCBI chr 9:60,931,433...60,934,252
Ensembl chr 9:60,930,875...60,935,781
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Hdac1
histone deacetylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22711276
NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
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Hdac4
histone deacetylase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22711276
NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
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Hdac5
histone deacetylase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22711276
NCBI chr10:87,152,978...87,187,921
Ensembl chr10:87,152,978...87,188,235
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Ica1l
islet cell autoantigen 1-like
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:61,410,959...61,469,884
Ensembl chr 9:61,412,091...61,470,134
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Icos
inducible T-cell co-stimulator
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
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Id1
inhibitor of DNA binding 1
ISO
protein:decreased expression:lung, wall of arteriole (human)
RGD
PMID:20522807
RGD:9686087
NCBI chr 3:141,210,666...141,212,420
Ensembl chr 3:141,211,267...141,212,419
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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Ino80d
INO80 complex subunit D
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:64,447,075...64,514,013
Ensembl chr 9:64,457,165...64,515,242
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Kansl1l
KAT8 regulatory NSL complex subunit 1-like
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:68,211,151...68,316,992
Ensembl chr 9:68,211,189...68,300,222
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Kcnk3
potassium two pore domain channel subfamily K member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153
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Klf7
KLF transcription factor 7
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:65,433,683...65,526,372
Ensembl chr 9:65,437,167...65,526,261
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Lancl1
LanC like glutathione S-transferase 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:68,515,052...68,548,646
Ensembl chr 9:68,518,574...68,548,628
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Map2
microtubule-associated protein 2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809
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Mdh1b
malate dehydrogenase 1B
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:65,120,370...65,168,008
Ensembl chr 9:65,119,029...65,167,933
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Mettl21a
methyltransferase 21A, HSPA lysine
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:65,934,253...65,999,964
Ensembl chr 9:65,978,051...65,987,550
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Mfn1
mitofusin 1
ISO
protein:decreased expression:vastus lateralis
RGD
PMID:23972212
RGD:329812002
NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640
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Mfn2
mitofusin 2
ISO
protein:decreased expression:vastus lateralis
RGD
PMID:23972212
RGD:329812002
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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Mir23a
microRNA 23a
ISO
RNA:increased expression:serum
RGD
PMID:25815108
RGD:155882560
NCBI chr19:23,954,997...23,955,071
Ensembl chr19:23,954,997...23,955,071
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Myl1
myosin, light chain 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:68,437,514...68,458,256
Ensembl chr 9:68,437,517...68,458,261
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Nbeal1
neurobeachin-like 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:61,575,154...61,743,896
Ensembl chr 9:61,575,356...61,736,750
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Ndufs1
NADH:ubiquinone oxidoreductase core subunit S1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:64,546,430...64,579,751
Ensembl chr 9:64,546,225...64,579,893
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Nop58
NOP58 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074
NCBI chr 9:61,120,939...61,144,810
Ensembl chr 9:61,120,929...61,144,810
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Nrp2
neuropilin 2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:64,122,815...64,238,007
Ensembl chr 9:64,123,132...64,237,958
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Pard3b
par-3 family cell polarity regulator beta
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:63,038,435...64,067,178
Ensembl chr 9:63,038,436...64,068,053
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Pikfyve
phosphoinositide kinase, FYVE-type zinc finger containing
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:66,563,747...66,657,873
Ensembl chr 9:66,563,727...66,657,868
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Plekhm3
pleckstrin homology domain containing M3
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:66,166,233...66,325,332
Ensembl chr 9:66,166,321...66,325,294
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Pparg
peroxisome proliferator-activated receptor gamma
ISS
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
MouseDO
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Ptgis
prostaglandin I2 synthase
ISO
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 chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451
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Pth2r
parathyroid hormone 2 receptor
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:66,706,050...66,810,601
Ensembl chr 9:66,706,050...66,810,036
G
Raph1
Ras association (RalGDS/AF-6) and pleckstrin homology domains 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:61,907,476...61,990,170
Ensembl chr 9:61,907,758...61,961,209
G
Rfc1
replication factor C subunit 1
ISO
mRNA:increased expression:lung (human)
RGD
PMID:37410515
RGD:401940160
NCBI chr14:42,966,279...43,041,372
Ensembl chr14:42,966,324...43,041,370
G
Rpe
ribulose-5-phosphate-3-epimerase
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:68,191,027...68,211,295
Ensembl chr 9:68,191,292...68,211,591
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Ryr1
ryanodine receptor 1
ISO
protein:increased phosphorylation:vastus lateralis
RGD
PMID:23972212
RGD:329812002
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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Smad9
SMAD family member 9
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
CTD MouseDO
NCBI chr 2:138,956,326...139,006,315
Ensembl chr 2:138,986,471...139,006,307
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Sox17
SRY-box transcription factor 17
ISO
protein:decreased expression:pulmonary artery (human)
RGD
PMID:36919784
RGD:329853737
NCBI chr 5:15,016,660...15,022,228
Ensembl chr 5:15,016,731...15,022,228
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Sumo1
small ubiquitin-like modifier 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074
NCBI chr 9:61,078,790...61,108,697
Ensembl chr 9:61,077,435...61,108,761
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Tnfsf4
TNF superfamily member 4
ISS
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
MouseDO
NCBI chr13:73,723,329...73,746,809
Ensembl chr13:73,723,329...73,746,788
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Trim63
tripartite motif containing 63
ISO
mRNA, protein:increased expression:vastus lateralis
RGD
PMID:23972212
RGD:329812002
NCBI chr 5:146,533,492...146,547,332
Ensembl chr 5:146,533,507...146,547,322
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Unc80
unc-80 homolog, NALCN channel complex subunit
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:68,011,940...68,190,135
Ensembl chr 9:68,011,728...68,187,659
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Vip
vasoactive intestinal peptide
ISS
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
MouseDO
NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
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Wdr12
WD repeat domain 12
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:61,475,498...61,502,762
Ensembl chr 9:61,475,517...61,502,469
G
Zdbf2
zinc finger, DBF-type containing 2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:64,672,974...64,748,446
Ensembl chr 9:64,709,880...64,744,265
G
Abca3
ATP binding cassette subfamily A member 3
ISO
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 chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
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Abcc8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25117148 PMID:25741868
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
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Abi2
abl-interactor 2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:61,827,186...61,905,703
Ensembl chr 9:61,827,139...61,905,699
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Acvrl1
activin A receptor like type 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:9245985 PMID:11484689 PMID:12700602 PMID:14684682 PMID:15024723 PMID:15517393 PMID:15687131 PMID:15879500 PMID:15880681 PMID:16429404 PMID:16470787 PMID:16540754 PMID:16690726 PMID:16705692 PMID:16752392 PMID:17384219 PMID:17786384 PMID:18159113 PMID:18495117 PMID:18498373 PMID:18673552 PMID:19555857 PMID:19767588 PMID:20056902 PMID:20414677 PMID:20501893 PMID:21158752 PMID:21378382 PMID:22632830 PMID:23124896 PMID:23298310 PMID:23535011 PMID:23722869 PMID:23919827 PMID:24033266 PMID:24753439 PMID:25557927 PMID:25741868 PMID:25970827 PMID:26387786 PMID:27316748 PMID:27587546 PMID:28492532 PMID:28918311 PMID:29449337 PMID:29515340 PMID:29650961 PMID:29743074 PMID:30260738 PMID:30303062 PMID:30578383 PMID:31019026 PMID:31400083 PMID:31727138 PMID:32300199 PMID:32503579 PMID:32581362 PMID:32899377 PMID:34872578 More...
NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591
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Als2
alsin Rho guanine nucleotide exchange factor ALS2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
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Aox1
aldehyde oxidase 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:59,579,621...59,658,772
Ensembl chr 9:59,579,649...59,658,770
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Atp13a3
ATPase 13A3
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868 PMID:28492532 PMID:30679663 PMID:31727138 PMID:34493544 PMID:35204766 More...
NCBI chr11:70,364,998...70,442,005
Ensembl chr11:70,365,322...70,441,235
G
Bmpr1a
bone morphogenetic protein receptor type 1A
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:24121792 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31727138
NCBI chr16:9,736,390...9,829,825
Ensembl chr16:9,736,630...9,780,616
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Bmpr2
bone morphogenetic protein receptor type 2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia
ClinVar
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: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:25326637 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:28480048 PMID:28492532 PMID:28507310 PMID:29631995 PMID:29650961 PMID:29743074 PMID:29843651 PMID:30029678 PMID:30578397 PMID:30679663 PMID:31727138 PMID:31797984 PMID:32581362 PMID:33066286 PMID:33380512 More...
NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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Bzw1
basic leucine zipper and W2 domains 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:59,930,672...59,944,468
Ensembl chr 9:59,930,744...59,944,430
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C2cd6
C2 calcium dependent domain containing 6
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,434,926...60,530,842
Ensembl chr 9:60,434,925...60,530,806
G
Carf
calcium responsive transcription factor
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:61,502,368...61,552,433
Ensembl chr 9:61,506,956...61,550,462
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Casp8
caspase 8
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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Cd28
Cd28 molecule
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
G
Cdk15
cyclin-dependent kinase 15
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,710,787...60,803,638
Ensembl chr 9:60,711,715...60,802,777
G
Cflar
CASP8 and FADD-like apoptosis regulator
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034
G
Clk1
CDC-like kinase 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:59,947,774...59,959,002
Ensembl chr 9:59,947,764...59,957,000
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
G
Cyp20a1
cytochrome P450, family 20, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:61,755,804...61,805,123
Ensembl chr 9:61,755,790...61,805,123
G
Eif2ak4
eukaryotic translation initiation factor 2 alpha kinase 4
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868 PMID:28492532 PMID:32581362
NCBI chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630
G
Eng
endoglin
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:10625079 PMID:15517393 PMID:15521985 PMID:15879500 PMID:16690726 PMID:16705692 PMID:16754821 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:26387786 PMID:28492532 PMID:29650961 PMID:30029678 PMID:30665703 PMID:31019283 PMID:31727138 PMID:32503579 PMID:32514857 PMID:32573726 PMID:32581362 PMID:32933640 PMID:33919892 PMID:34872578 More...
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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Fam117b
family with sequence similarity 117, member B
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:61,340,284...61,418,531
Ensembl chr 9:61,340,249...61,408,483
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Flacc1
flagellum associated containing coiled-coil domains 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,315,581...60,343,692
Ensembl chr 9:60,315,582...60,343,648
G
Fzd7
frizzled class receptor 7
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,931,433...60,934,252
Ensembl chr 9:60,930,875...60,935,781
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Gdf2
growth differentiation factor 2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868 PMID:26801773 PMID:28492532 PMID:31661308 PMID:31727138
NCBI chr16:9,255,430...9,261,429
Ensembl chr16:9,255,430...9,261,429
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Gjb2
gap junction protein, beta 2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:17666888 PMID:25741868 PMID:30755392
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
G
Hycc2
hyccin PI4KA lipid kinase complex subunit 2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,056,883...60,129,176
Ensembl chr 9:60,056,890...60,093,007
G
Hydin
Hydin, axonemal central pair apparatus protein
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868
NCBI chr19:38,236,996...38,583,271
Ensembl chr19:38,236,464...38,583,264
G
Ica1l
islet cell autoantigen 1-like
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:61,410,959...61,469,884
Ensembl chr 9:61,412,091...61,470,134
G
Icos
inducible T-cell co-stimulator
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
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Kcna5
potassium voltage-gated channel subfamily A member 5
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:20018952 PMID:21685056 PMID:23861362 PMID:24068186 PMID:25076992 PMID:25741868 PMID:28492532 More...
NCBI chr 4:159,354,689...159,358,173
Ensembl chr 4:159,350,097...159,357,697
G
Kcnk3
potassium two pore domain channel subfamily K member 3
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23883380 PMID:32581362
NCBI chr 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153
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Kctd18
potassium channel tetramerization domain containing 18
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:59,502,220...59,566,857
Ensembl chr 9:59,502,232...59,566,857
G
Mpp4
MAGUK p55 scaffold protein 4
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,569,734...60,613,035
Ensembl chr 9:60,569,734...60,611,797
G
Nbeal1
neurobeachin-like 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:61,575,154...61,743,896
Ensembl chr 9:61,575,356...61,736,750
G
Ndufb3
NADH:ubiquinone oxidoreductase subunit B3
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,129,240...60,139,452
Ensembl chr 9:60,129,154...60,139,446
G
Nif3l1
NGG1 interacting factor 3 like 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:59,980,101...60,001,490
Ensembl chr 9:59,979,799...60,000,131
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Nop58
NOP58 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436 PMID:32581362
NCBI chr 9:61,120,939...61,144,810
Ensembl chr 9:61,120,929...61,144,810
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Notch1
notch receptor 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
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 More...
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
G
Notch3
notch receptor 3
ISO
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 chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
G
Orc2
origin recognition complex, subunit 2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,001,631...60,038,301
Ensembl chr 9:60,001,910...60,038,195
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Pah
phenylalanine hydroxylase
ISO
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 chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130
G
Phf6
PHD finger protein 6
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868
NCBI chr X:132,656,658...132,699,720
Ensembl chr X:132,656,672...132,699,127
G
Pms2
PMS1 homolog 2, mismatch repair system component
ISO
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 chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066
G
Ppil3
peptidylprolyl isomerase like 3
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:59,966,405...59,980,147
Ensembl chr 9:59,964,919...59,979,886
G
Raph1
Ras association (RalGDS/AF-6) and pleckstrin homology domains 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:61,907,476...61,990,170
Ensembl chr 9:61,907,758...61,961,209
G
Sgo2
shugoshin 2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:59,548,605...59,573,229
Ensembl chr 9:59,548,683...59,573,229
G
Smad1
SMAD family member 1
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:21898662
NCBI chr19:28,513,130...28,573,665
Ensembl chr19:28,513,131...28,573,651
G
Smad4
SMAD family member 4
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:21898662 PMID:24728327 PMID:25502805 PMID:25559809 PMID:25741868 PMID:26387786 PMID:26467025 PMID:28492532 PMID:29684080 PMID:31515488 More...
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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Smad9
SMAD family member 9
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
NCBI chr 2:138,956,326...139,006,315
Ensembl chr 2:138,986,471...139,006,307
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Snord11
small nucleolar RNA, C/D box 11
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436
NCBI chr 9:61,137,715...61,137,798
Ensembl chr 9:61,137,715...61,137,798
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Snord11b
small nucleolar RNA, C/D box 11B
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436
NCBI chr 9:61,137,168...61,137,247
Ensembl chr 9:61,137,168...61,137,247
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Snord70
small nucleolar RNA, C/D box 70
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436
NCBI chr 9:61,125,974...61,126,060
Ensembl chr 9:61,125,974...61,126,060
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Snord70b
small nucleolar RNA, C/D box 70B
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436
NCBI chr 9:61,126,745...61,126,828
Ensembl chr 9:61,126,745...61,126,828
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Sox17
SRY-box transcription factor 17
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
NCBI chr 5:15,016,660...15,022,228
Ensembl chr 5:15,016,731...15,022,228
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Spats2l
spermatogenesis associated, serine-rich 2-like
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:59,319,949...59,493,864
Ensembl chr 9:59,320,276...59,493,967
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Stradb
STE20 related adaptor beta
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,414,182...60,433,084
Ensembl chr 9:60,414,182...60,433,084
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Sumo1
small ubiquitin-like modifier 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:61,078,790...61,108,697
Ensembl chr 9:61,077,435...61,108,761
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Tbx4
T-box transcription factor 4
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension | 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: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 chr10:70,730,686...70,760,829
Ensembl chr10:70,731,163...70,760,825
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Tmem237
transmembrane protein 237
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567
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Topbp1
DNA topoisomerase II binding protein 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868
NCBI chr 8:103,887,805...103,931,662
Ensembl chr 8:103,887,865...103,931,674
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Trak2
trafficking kinesin protein 2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,348,531...60,414,036
Ensembl chr 9:60,350,012...60,413,996
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Wdr12
WD repeat domain 12
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:61,475,498...61,502,762
Ensembl chr 9:61,475,517...61,502,469
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Smad9
SMAD family member 9
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 2
OMIM ClinVar
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 chr 2:138,956,326...139,006,315
Ensembl chr 2:138,986,471...139,006,307
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Bmpr1b
bone morphogenetic protein receptor type 1B
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
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Cav1
caveolin 1
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3
OMIM ClinVar
PMID:22474227 PMID:25741868 PMID:28492532 PMID:29231014 PMID:31727138
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Kcnk3
potassium two pore domain channel subfamily K member 3
ISO
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 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153
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Atp13a3
ATPase 13A3
ISO
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 chr11:70,364,998...70,442,005
Ensembl chr11:70,365,322...70,441,235
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Calca
calcitonin-related polypeptide alpha
ISO
RGD
PMID:15928032
RGD:7204486
NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
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Slc4a4
solute carrier family 4 member 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: RTA, PROXIMAL, AUTOSOMAL RECESSIVE
OMIM CTD ClinVar
PMID:10545938 PMID:11274232 PMID:18658147 PMID:20197274 PMID:21234596 PMID:23362273 PMID:25741868 PMID:28492532 More...
NCBI chr14:18,841,289...19,293,297
Ensembl chr14:18,845,159...19,272,883
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Abca3
ATP binding cassette subfamily A member 3
ISO
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 chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
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Abcc8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25117148 PMID:25741868
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
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Abi2
abl-interactor 2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:61,827,186...61,905,703
Ensembl chr 9:61,827,139...61,905,699
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Acvrl1
activin A receptor like type 1
ISO
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 chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591
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Ahr
aryl hydrocarbon receptor
severity
ISO
CTD Direct Evidence: marker/mechanism protein:increased activity:serum (human)
CTD RGD
PMID:33836606 PMID:33836606
RGD:401940192
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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Ahsp
alpha hemoglobin stabilizing protein
ISO
mRNA:altered expression: (human)
RGD
PMID:35710932
RGD:329961295
NCBI chr 1:182,879,901...182,885,508
Ensembl chr 1:182,880,076...182,885,506
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Als2
alsin Rho guanine nucleotide exchange factor ALS2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
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Aox1
aldehyde oxidase 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:59,579,621...59,658,772
Ensembl chr 9:59,579,649...59,658,770
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Apln
apelin
treatment
ISO
RGD
PMID:23867624
RGD:329848996
NCBI chr X:127,180,801...127,213,567
Ensembl chr X:127,203,823...127,213,391
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Atp13a3
ATPase 13A3
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868 PMID:28492532 PMID:30679663 PMID:31727138 PMID:34493544 PMID:35204766 More...
NCBI chr11:70,364,998...70,442,005
Ensembl chr11:70,365,322...70,441,235
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Axin2
axin 2
exacerbates
IMP
RGD
PMID:28694128
RGD:151356920
NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
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Bmp7
bone morphogenetic protein 7
IEP
protein:increased expression:lung, pulmonary artery (rat)
RGD
PMID:31542483
RGD:155888480
NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788
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Bmpr1a
bone morphogenetic protein receptor type 1A
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease
ClinVar
PMID:24121792 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30029678 PMID:31727138 More...
NCBI chr16:9,736,390...9,829,825
Ensembl chr16:9,736,630...9,780,616
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Bmpr1b
bone morphogenetic protein receptor type 1B
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease
ClinVar
PMID:25741868 PMID:30029678
NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
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Bmpr2
bone morphogenetic protein receptor type 2
treatment
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease
CTD ClinVar RGD
PMID:3291115 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:17515463 PMID:18159113 PMID:18321866 PMID:18356561 PMID:18503968 PMID:19555857 PMID:20002458 PMID:20095988 PMID:20096498 PMID:20534176 PMID:21737554 PMID:21801371 PMID:23298310 PMID:23579436 PMID:23592887 PMID:23675998 PMID:24591673 PMID:25187962 PMID:25326637 PMID:25429696 PMID:25612240 PMID:25688877 PMID:25741868 PMID:26387786 PMID:26645265 PMID:27884767 PMID:28388887 PMID:28415675 PMID:28480048 PMID:28492532 PMID:29631995 PMID:29650961 PMID:29843651 PMID:30029678 PMID:30578397 PMID:31727138 PMID:32581362 PMID:23867624 More...
RGD:329848996
NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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Bzw1
basic leucine zipper and W2 domains 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:59,930,672...59,944,468
Ensembl chr 9:59,930,744...59,944,430
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C2cd6
C2 calcium dependent domain containing 6
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,434,926...60,530,842
Ensembl chr 9:60,434,925...60,530,806
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Carf
calcium responsive transcription factor
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:61,502,368...61,552,433
Ensembl chr 9:61,506,956...61,550,462
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Casp8
caspase 8
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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Cav1
caveolin 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease
ClinVar
PMID:25741868 PMID:30029678
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Cd28
Cd28 molecule
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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Cdh2
cadherin 2
ISO
mRNA:increased expression:lung
RGD
PMID:25593290
RGD:38500244
NCBI chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167
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Cdk15
cyclin-dependent kinase 15
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,710,787...60,803,638
Ensembl chr 9:60,711,715...60,802,777
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Cflar
CASP8 and FADD-like apoptosis regulator
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034
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Clk1
CDC-like kinase 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:59,947,774...59,959,002
Ensembl chr 9:59,947,764...59,957,000
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Cp
ceruloplasmin
ISO
associated with systemic scleroderma;protein:increased expression:serum
RGD
PMID:32630589
RGD:401827129
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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Creb1
cAMP responsive element binding protein 1
treatment
IDA
RGD
PMID:33760143
RGD:401960860
NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Ctnnd1
catenin delta 1
ISO
protein:decreased expression:lung
RGD
PMID:25593290
RGD:38500244
NCBI chr 3:69,683,328...69,734,550
Ensembl chr 3:69,683,313...69,734,516
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Cyp20a1
cytochrome P450, family 20, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:61,755,804...61,805,123
Ensembl chr 9:61,755,790...61,805,123
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Ddah1
dimethylarginine dimethylaminohydrolase 1
exacerbates
IMP
compared to wild type
RGD
PMID:31402164
RGD:151347602
NCBI chr 2:234,667,499...234,800,322
Ensembl chr 2:234,667,491...234,799,339
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Ddah1em1Ywxu
dimethylarginine dimethylaminohydrolase 1; CRISPR/Cas9 induced mutant 1, Ywxu
exacerbates
IMP
compared to wild type
RGD
PMID:31402164
RGD:151347602
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Eif2ak4
eukaryotic translation initiation factor 2 alpha kinase 4
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868 PMID:28492532 PMID:32581362
NCBI chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630
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Eng
endoglin
ISO
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 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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Fam117b
family with sequence similarity 117, member B
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:61,340,284...61,418,531
Ensembl chr 9:61,340,249...61,408,483
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Fhit
fragile histidine triad diadenosine triphosphatase
ISO
RGD
PMID:30107138
RGD:329349307
NCBI chr15:13,935,029...15,442,620
Ensembl chr15:13,934,995...15,442,340
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Flacc1
flagellum associated containing coiled-coil domains 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,315,581...60,343,692
Ensembl chr 9:60,315,582...60,343,648
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Fto
FTO, alpha-ketoglutarate dependent dioxygenase
IEP
protein:decreased expression:lung
RGD
PMID:34310344
RGD:329845886
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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Fzd7
frizzled class receptor 7
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,931,433...60,934,252
Ensembl chr 9:60,930,875...60,935,781
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Gdf2
growth differentiation factor 2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868 PMID:26801773 PMID:28492532 PMID:31661308 PMID:31727138
NCBI chr16:9,255,430...9,261,429
Ensembl chr16:9,255,430...9,261,429
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Gjb2
gap junction protein, beta 2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:17666888 PMID:25741868 PMID:30755392
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
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Gpx3
glutathione peroxidase 3
ISO
associated with systemic scleroderma;protein:decreased expression:serum
RGD
PMID:32630589
RGD:401827129
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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H19
H19 imprinted maternally expressed transcript
ameliorates treatment
ISO IEP
RGD
PMID:30547791 PMID:30240970
RGD:155882573 , RGD:156430315
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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Htr1b
5-hydroxytryptamine receptor 1B
ISO
protein:increased expression:endothelium, smooth muscle, pulmonary artery
RGD
PMID:28473438
RGD:329955562
NCBI chr 8:82,513,572...82,534,670
Ensembl chr 8:82,517,360...82,534,549
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Hycc2
hyccin PI4KA lipid kinase complex subunit 2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,056,883...60,129,176
Ensembl chr 9:60,056,890...60,093,007
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Hydin
Hydin, axonemal central pair apparatus protein
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868
NCBI chr19:38,236,996...38,583,271
Ensembl chr19:38,236,464...38,583,264
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Ica1l
islet cell autoantigen 1-like
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:61,410,959...61,469,884
Ensembl chr 9:61,412,091...61,470,134
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Icos
inducible T-cell co-stimulator
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
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Ifng
interferon gamma
treatment
IEP
RGD
PMID:23867624
RGD:329848996
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Igf1r
insulin-like growth factor 1 receptor
treatment
IEP
RGD
PMID:30240970
RGD:156430315
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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Il2
interleukin 2
treatment
IEP
RGD
PMID:23867624
RGD:329848996
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
G
Impa1
inositol monophosphatase 1
ISO
RGD
PMID:30604625
RGD:126781711
NCBI chr 2:91,462,781...91,484,057
Ensembl chr 2:91,462,799...91,484,313
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Itga5
integrin subunit alpha 5
ISO
mRNA:increased expression:lung
RGD
PMID:25593290
RGD:38500244
NCBI chr 7:134,478,963...134,502,837
Ensembl chr 7:134,478,968...134,502,837
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Kcna5
potassium voltage-gated channel subfamily A member 5
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:23861362 PMID:25741868 PMID:28492532
NCBI chr 4:159,354,689...159,358,173
Ensembl chr 4:159,350,097...159,357,697
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Kcnk3
potassium two pore domain channel subfamily K member 3
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153
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Kcnn4
potassium calcium-activated channel subfamily N member 4
ameliorates
IMP
RGD
PMID:28679649
RGD:329955564
NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340
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Kctd18
potassium channel tetramerization domain containing 18
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:59,502,220...59,566,857
Ensembl chr 9:59,502,232...59,566,857
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Map3k7
mitogen activated protein kinase kinase kinase 7
treatment
IEP
RGD
PMID:35582418
RGD:155804297
NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
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Mir140
microRNA 140
severity
ISO
miRNA:decreased expression:blood (human)
RGD
PMID:27214554
RGD:329337371
NCBI chr19:35,465,577...35,465,675
Ensembl chr19:35,465,577...35,465,675
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Mir143
microRNA 143
ameliorates
ISO
RNA:increased expression:pulmonary smooth muscle cell:
RGD
PMID:26311719 PMID:26311719
RGD:11537224 , RGD:11537224
NCBI chr18:55,101,006...55,101,110
Ensembl chr18:55,101,006...55,101,110
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Mir17
microRNA 17
severity
ISO
miRNA:increased expression:blood
RGD
PMID:32600075
RGD:329349306
NCBI chr15:92,180,629...92,180,712
Ensembl chr15:92,180,629...92,180,712
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Mir200a
microRNA 200a
treatment
IEP
RGD
PMID:30240970
RGD:156430315
NCBI chr 5:166,648,494...166,648,582
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Mir221
microRNA 221
ameliorates
ISO IMP IEP
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:3,429,465...3,429,573
Ensembl chr X:3,429,465...3,429,573
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Mir675
microRNA 675
treatment
IEP
RGD
PMID:30240970
RGD:156430315
NCBI chr 1:197,732,275...197,732,358
Ensembl chr 1:197,732,275...197,732,358
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Mpp4
MAGUK p55 scaffold protein 4
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,569,734...60,613,035
Ensembl chr 9:60,569,734...60,611,797
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Nbeal1
neurobeachin-like 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:61,575,154...61,743,896
Ensembl chr 9:61,575,356...61,736,750
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Ndufb3
NADH:ubiquinone oxidoreductase subunit B3
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,129,240...60,139,452
Ensembl chr 9:60,129,154...60,139,446
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Nif3l1
NGG1 interacting factor 3 like 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:59,980,101...60,001,490
Ensembl chr 9:59,979,799...60,000,131
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Nnmt
nicotinamide N-methyltransferase
IEP
protein:increased activity,altered activity:lung, liver (rat)
RGD
PMID:27581040
RGD:401793717
NCBI chr 8:48,928,663...48,947,734
Ensembl chr 8:48,933,598...48,946,655
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Nop58
NOP58 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:61,120,939...61,144,810
Ensembl chr 9:61,120,929...61,144,810
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Nos3
nitric oxide synthase 3
treatment
ISO
RGD
PMID:23867624
RGD:329848996
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Notch1
notch receptor 1
ISO
protein:decreased expression:endothelial cell, nucleus: ClinVar Annotator: match by term: Pulmonary arterial hypertension
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 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Notch3
notch receptor 3
ISO
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 chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
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Orc2
origin recognition complex, subunit 2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,001,631...60,038,301
Ensembl chr 9:60,001,910...60,038,195
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Park7
Parkinsonism associated deglycase
exacerbates
IMP
RGD
PMID:29069575
RGD:151347449
NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970
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Pdcd4
programmed cell death 4
treatment
IEP
RGD
PMID:30240970
RGD:156430315
NCBI chr 1:252,921,342...252,944,278
Ensembl chr 1:252,921,392...252,944,275
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Phf6
PHD finger protein 6
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868
NCBI chr X:132,656,658...132,699,720
Ensembl chr X:132,656,672...132,699,127
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Pms2
PMS1 homolog 2, mismatch repair system component
ISO
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 chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066
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Ppil3
peptidylprolyl isomerase like 3
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:59,966,405...59,980,147
Ensembl chr 9:59,964,919...59,979,886
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Ptgis
prostaglandin I2 synthase
treatment susceptibility
ISO IEP
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 chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451
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Ptprd
protein tyrosine phosphatase, receptor type, D
ISO
mRNA:decreased expression:blood, pulmonary artery (human)
RGD
PMID:35848503
RGD:401976433
NCBI chr 5:90,046,993...90,698,977 NCBI chr 5:91,122,354...91,641,754
Ensembl chr 5:90,048,966...92,369,396
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Raph1
Ras association (RalGDS/AF-6) and pleckstrin homology domains 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:61,907,476...61,990,170
Ensembl chr 9:61,907,758...61,961,209
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Selenop
selenoprotein P
ISO
associated with systemic scleroderma;protein:decreased expression:serum
RGD
PMID:32630589
RGD:401827129
NCBI chr 2:52,498,123...52,508,409
Ensembl chr 2:52,498,339...52,508,852
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Sgo2
shugoshin 2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:59,548,605...59,573,229
Ensembl chr 9:59,548,683...59,573,229
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Smad4
SMAD family member 4
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25559809 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29684080
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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Smad9
SMAD family member 9
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease
ClinVar
PMID:25741868 PMID:28492532 PMID:30029678
NCBI chr 2:138,956,326...139,006,315
Ensembl chr 2:138,986,471...139,006,307
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Sod2
superoxide dismutase 2
IEP ISO
protein:decreased expression:pulmonary artery protein:decreased expression:small pulmonary artery
RGD
PMID:20529999 PMID:20529999
RGD:27095884 , RGD:27095884
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Sod3
superoxide dismutase 3
exacerbates
IMP
RGD
PMID:21730301
RGD:14369425
NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
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Sod3m1Mcwi
superoxide dismutase 3; mutation 1, Medical College of Wisconsin
exacerbates
IMP
RGD
PMID:21730301
RGD:14369425
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Sox17
SRY-box transcription factor 17
susceptibility onset
ISO
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 5:15,016,660...15,022,228
Ensembl chr 5:15,016,731...15,022,228
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Spats2l
spermatogenesis associated, serine-rich 2-like
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:59,319,949...59,493,864
Ensembl chr 9:59,320,276...59,493,967
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Stradb
STE20 related adaptor beta
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,414,182...60,433,084
Ensembl chr 9:60,414,182...60,433,084
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Sumo1
small ubiquitin-like modifier 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:61,078,790...61,108,697
Ensembl chr 9:61,077,435...61,108,761
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Tbx4
T-box transcription factor 4
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension | 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:30029678 PMID:30578397 PMID:31151956 PMID:31727138 PMID:31761294 PMID:31965066 PMID:32079640 PMID:32581362 PMID:32860008 PMID:33066286 More...
NCBI chr10:70,730,686...70,760,829
Ensembl chr10:70,731,163...70,760,825
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Tgfbr1
transforming growth factor, beta receptor 1
ISO
mRNA:increased expression:lung
RGD
PMID:25593290
RGD:38500244
NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
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Tmem237
transmembrane protein 237
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567
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Topbp1
DNA topoisomerase II binding protein 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868
NCBI chr 8:103,887,805...103,931,662
Ensembl chr 8:103,887,865...103,931,674
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Trak2
trafficking kinesin protein 2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,348,531...60,414,036
Ensembl chr 9:60,350,012...60,413,996
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Trpc4
transient receptor potential cation channel, subfamily C, member 4
ameliorates
IMP
RGD
PMID:24113457
RGD:150429956
NCBI chr 2:138,307,676...138,476,856
Ensembl chr 2:138,308,084...138,476,768
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Trpc4Tn(sb)Tngen
transient receptor potential cation channel, subfamily C, member 4; sleeping beauty induced mutant, Tngen
ameliorates
IMP
RGD
PMID:24113457
RGD:150429956
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Twist1
twist family bHLH transcription factor 1
ISO
mRNA, protein:increased expression: pulmonary artery,lung:
RGD
PMID:25593290
RGD:38500244
NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
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Vim
vimentin
ISO
protein:increased phosphorylation:lung
RGD
PMID:25593290
RGD:38500244
NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
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Wdr12
WD repeat domain 12
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:61,475,498...61,502,762
Ensembl chr 9:61,475,517...61,502,469
G
Acvrl1
activin A receptor like type 1
ISO
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 chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591
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Eng
endoglin
ISO
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 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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Dnm1l
dynamin 1-like
IEP
mRNA:increased expression:lung (rat)
RGD
PMID:23517027
RGD:12738217
NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
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Fis1
fission, mitochondrial 1
IEP
mRNA:increased expression:lung (rat)
RGD
PMID:23517027
RGD:12738217
NCBI chr12:19,708,560...19,723,392
Ensembl chr12:19,708,558...19,723,377
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Gucy1a1
guanylate cyclase 1 soluble subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25373139
NCBI chr 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671
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Hmox1
heme oxygenase 1
IEP
protein:increased expression:lung
RGD
PMID:21296072
RGD:10755745
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Mfn2
mitofusin 2
IEP
mRNA:decreased expression:lung (rat)
RGD
PMID:23517027
RGD:12738217
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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Abca3
ATP binding cassette subfamily A member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26780485
NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
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Ace
angiotensin I converting enzyme
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12359135
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Ace2
angiotensin converting enzyme 2
treatment
ISO
CTD Direct Evidence: therapeutic human protein in a rat model
CTD RGD
PMID:31931441 PMID:25225206
RGD:40818280
NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
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Acvrl1
activin A receptor like type 1
susceptibility disease_progression
ISO IEP
associated with hereditary haemorrhagic telangiectasia;DNA:missense mutations mRNA:increased expression:lung DNA:mutations (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26540443 PMID:14684682 PMID:17392319 PMID:20056902
RGD:1601117 , RGD:1601116 , RGD:5128837
NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591
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Adh5
alcohol dehydrogenase 5 (class III), chi polypeptide
ISO
RGD
PMID:20431245
RGD:5128886
NCBI chr 2:226,975,184...226,987,591
Ensembl chr 2:226,947,466...226,987,591
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
RGD
PMID:19168697
RGD:5686821
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Adm
adrenomedullin
ISO
RGD
PMID:14718403
RGD:1625305
NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
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Ager
advanced glycosylation end product-specific receptor
ISO
protein:increased expression:lung (human)
RGD
PMID:21041689
RGD:7244258
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Agt
angiotensinogen
IDA
RGD
PMID:21381494
RGD:5129162
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Agtr1a
angiotensin II receptor, type 1a
onset
ISO
DNA:polymorphism:3' utr:1166A>C (human)
RGD
PMID:19332265
RGD:5147450
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Ahr
aryl hydrocarbon receptor
ameliorates
IMP
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 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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Ahrem1Iexas
aryl hydrocarbon receptor; CRISPR/Cas9 induced mutant1, Iexas
ameliorates
IMP
compared to wild type littermates
RGD
PMID:33836606
RGD:401940192
G
Alas1
5'-aminolevulinate synthase 1
IEP
mRNA:increased expression:lung (rat)
RGD
PMID:16181105
RGD:4144185
NCBI chr 8:106,876,514...106,889,917
Ensembl chr 8:106,876,514...106,889,917
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Alox5
arachidonate 5-lipoxygenase
treatment
ISO IEP IMP IDA
protein:increased expression:artery CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:14726295 PMID:9445303 PMID:31462075 PMID:31462075 PMID:14726295 PMID:8647941 More...
RGD:1626154 , RGD:14975304 , RGD:14975304 , RGD:4890418 , RGD:734558
NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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Alox5ap
arachidonate 5-lipoxygenase activating protein
ISO IMP
protein:increased expression:artery
RGD
PMID:9445303 PMID:8647941
RGD:1626154 , RGD:734558
NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986
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Angpt1
angiopoietin 1
IEP
protein:decreased expression:pulmonary artery
RGD
PMID:18073453
RGD:2316069
NCBI chr 7:73,528,345...73,783,953
Ensembl chr 7:73,531,486...73,784,067
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Angpt2
angiopoietin 2
IEP
protein:increased expression:pulmonary artery (rat)
RGD
PMID:19712575
RGD:2314185
NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
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Apln
apelin
ISO
protein:decreased expression:plasma
RGD
PMID:16263185
RGD:1626175
NCBI chr X:127,180,801...127,213,567
Ensembl chr X:127,203,823...127,213,391
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Arg2
arginase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24951775
NCBI chr 6:97,936,002...97,961,379
Ensembl chr 6:97,936,002...97,961,378
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Atp2a2
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
treatment
IEP ISO
RGD
PMID:27144451 PMID:23804254
RGD:13782086 , RGD:13782089
NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101
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Atp5f1a
ATP synthase F1 subunit alpha
treatment
IDA
chronic thromboembolic pulmonary hypertension
RGD
PMID:21396162
RGD:13703061
NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794
G
Atp5pf
ATP synthase peripheral stalk subunit F6
treatment
IEP IMP
mRNA, protein:increased expression:lung, plasma (rat)
RGD
PMID:27916219 PMID:27491388
RGD:13800892 , RGD:13800894
NCBI chr11:23,881,594...23,889,581
Ensembl chr11:23,881,592...23,889,119
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Atp7a
ATPase copper transporting alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24614111
NCBI chr X:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354
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Bcl2
BCL2, apoptosis regulator
IEP
protein:decreased expression:heart right ventricle
RGD
PMID:18441466
RGD:2293022
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Bcl2l1
Bcl2-like 1
treatment
IDA
RGD
PMID:22559233
RGD:10400914
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
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Bdkrb2
bradykinin receptor B2
IDA
RGD
PMID:15878794
RGD:4890453
NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
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Birc5
baculoviral IAP repeat-containing 5
IMP IEP
protein:increased expression:pulmonary artery
RGD
PMID:15931388 PMID:15931388
RGD:2293135 , RGD:2293135
NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
G
Bmpr1a
bone morphogenetic protein receptor type 1A
ISO
RGD
PMID:19324947
RGD:5129472
NCBI chr16:9,736,390...9,829,825
Ensembl chr16:9,736,630...9,780,616
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Bmpr1b
bone morphogenetic protein receptor type 1B
ISO
RGD
PMID:19324947
RGD:5129472
NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
G
Bmpr2
bone morphogenetic protein receptor type 2
treatment disease_progression
ISO IMP IEP
DNA:mutations: :multiple (human) induced by human ad-ALOX5 protein:decreased expression:lung CTD Direct Evidence: marker/mechanism DNA:missense mutations (human)
CTD RGD
PMID:11590841 PMID:11893684 PMID:12358323 PMID:16297860 PMID:20496075 PMID:20522807 PMID:23383100 PMID:23502781 PMID:24224048 PMID:20002458 PMID:31462075 PMID:21737550 PMID:25593290 PMID:15775752 PMID:18663089 PMID:20534176 PMID:19785764 PMID:19324947 More...
RGD:5129238 , RGD:14975304 , RGD:38500243 , RGD:38500244 , RGD:1580076 , RGD:5129474 , RGD:5129237 , RGD:5129239 , RGD:5129472
NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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Bmpr2em1Sage
bone morphogenetic protein receptor type 2; ZFN induced mutant 1, Sage
IMP
induced by human ad-ALOX5
RGD
PMID:31462075
RGD:14975304
G
Bmpr2em2Sage
bone morphogenetic protein receptor type 2; ZFN induced mutant 2, Sage
IMP
induced by human ad-ALOX5
RGD
PMID:31462075
RGD:14975304
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Brd4
bromodomain containing 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:26224795
NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
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Calca
calcitonin-related polypeptide alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1357980
NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
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Car9
carbonic anhydrase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20110409
NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
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Casr
calcium-sensing receptor
IEP
protein:increased expression:pulmonary artery (rat)
RGD
PMID:22730443
RGD:7205669
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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Cav1
caveolin 1
treatment
ISO IEP
idiopathic pulmonary arterial hypertension (IPAH)
RGD
PMID:17470567 PMID:23538027 PMID:15353500
RGD:1625360 , RGD:8662276 , RGD:1581153
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
G
Cavin1
caveolae associated protein 1
ISS
OMIM:615371
MouseDO
NCBI chr10:85,884,100...85,896,136
Ensembl chr10:85,889,036...85,896,120
G
Cbln2
cerebellin 2 precursor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23502781
NCBI chr18:79,940,412...79,948,766
Ensembl chr18:79,942,590...79,947,855
G
Ccl1
C-C motif chemokine ligand 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22507635
NCBI chr10:67,128,331...67,131,109
Ensembl chr10:67,128,331...67,131,159
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Ccl2
C-C motif chemokine ligand 2
IEP ISO
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 chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl5
C-C motif chemokine ligand 5
ISO
protein:increased secretion:serum (human)
RGD
PMID:19932032
RGD:4891440
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Ccn2
cellular communication network factor 2
IEP
protein:increased expression:pulmonary artery (rat)
RGD
PMID:19234054
RGD:2314535
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
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Cd209c
CD209c molecule
ISO
RGD
PMID:17107989
RGD:5131187
NCBI chr12:1,936,233...1,943,841
Ensembl chr12:1,936,396...1,942,040
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Cd209d
CD209d molecule
ISO
RGD
PMID:17107989
RGD:5131187
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
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Cd28
Cd28 molecule
ISO
RGD
PMID:19075187
RGD:5131619
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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Cd40
CD40 molecule
treatment
IMP
RGD
PMID:25998782
RGD:11344970
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
IEP ISO
protein:increased expression:serum (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15302794 PMID:25998782
RGD:11344970
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cd86
CD86 molecule
ISO
protein:decreased expression:blood, myeloid dendritic cell (human)
RGD
PMID:19693657
RGD:4892293
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Cdh5
cadherin 5
IEP
protein:decreased expression:lung
RGD
PMID:25593290
RGD:38500244
NCBI chr19:815,415...854,478
Ensembl chr19:815,411...854,368
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
treatment
ISO IEP
RGD
PMID:24334871 PMID:24412385
RGD:10043360 , RGD:10043361
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Cdkn1b
cyclin-dependent kinase inhibitor 1B
treatment
IEP
RGD
PMID:22383500
RGD:10045357
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
G
Clu
clusterin
IEP
RGD
PMID:25069740
RGD:9068424
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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Col1a1
collagen type I alpha 1 chain
treatment
IEP
RGD
PMID:25867313
RGD:11041577
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Col4a1
collagen type IV alpha 1 chain
treatment
IEP
RGD
PMID:25867313
RGD:11041577
NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
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Crp
C-reactive protein
ISO
associated with Pulmonary Disease, Chronic Obstructive
RGD
PMID:22333502
RGD:6482312
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Csf3
colony stimulating factor 3
treatment
ISO
RGD
PMID:17186992 PMID:12524378
RGD:11039432 , RGD:11039539
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Ctnnd1
catenin delta 1
treatment
IEP
RGD
PMID:25593290
RGD:38500244
NCBI chr 3:69,683,328...69,734,550
Ensembl chr 3:69,683,313...69,734,516
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Cx3cl1
C-X3-C motif chemokine ligand 1
ISO IEP
protein:increased expression:lung associated with Heart Defects, Congenital mRNA, protein:increased expression:lung
RGD
PMID:19948918 PMID:20869263 PMID:18630689
RGD:4891887 , RGD:4891883 , RGD:4891889
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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Cx3cr1
C-X3-C motif chemokine receptor 1
IEP ISO
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 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
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Cxcr4
C-X-C motif chemokine receptor 4
treatment
IMP
RGD
PMID:21294880
RGD:6480473
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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Cyba
cytochrome b-245 alpha chain
IDA ISO
associated with Anoxia;mRNA, protein:increased expression:lung
RGD
PMID:18424632 PMID:18952568
RGD:4773907 , RGD:4762683
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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Cybb
cytochrome b-245 beta chain
treatment
ISO IEP
associated with Anoxia
RGD
PMID:18952568 PMID:18424632
RGD:4762683 , RGD:4773907
NCBI chr X:13,358,101...13,392,570
Ensembl chr X:13,359,430...13,392,586
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
IEP
mRNA,protein:increased expression:lung
RGD
PMID:28956952
RGD:13702097
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Cyp2j4
cytochrome P450, family 2, subfamily j, polypeptide 4
ISO
RGD
PMID:20118222
RGD:7243137
NCBI chr 5:111,179,981...111,207,490
Ensembl chr 5:111,178,703...111,244,794
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Cysltr1
cysteinyl leukotriene receptor 1
IMP
associated with Anoxia
RGD
PMID:12910720
RGD:4848274
NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121
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Dll4
delta like canonical Notch ligand 4
ISO
RGD
PMID:34739767
RGD:155646132
NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
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Ece1
endothelin converting enzyme 1
IMP
associated with Anoxia;
RGD
PMID:18767389
RGD:7243939
NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
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Edn1
endothelin 1
ISO IEP
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 chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Edn2
endothelin 2
ISO
RGD
PMID:10598486
RGD:1580918
NCBI chr 5:133,751,316...133,756,814
Ensembl chr 5:133,751,217...133,756,814
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Ednra
endothelin receptor type A
IMP IDA ISO
RGD
PMID:20531217 PMID:15243299 PMID:20562228 PMID:18506008
RGD:4892283 , RGD:1580949 , RGD:4144877 , RGD:4892320
NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
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Ednrb
endothelin receptor type B
IMP ISO IDA
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15927975 PMID:18091567 PMID:15243299 PMID:20562228
RGD:4892289 , RGD:1580949 , RGD:4144877
NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
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Egfr
epidermal growth factor receptor
ISO
protein:increased expression:lung, arteriole (human)
RGD
PMID:12896876 PMID:21492463
RGD:5131639 , RGD:5131626
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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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 chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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Eif2ak4
eukaryotic translation initiation factor 2 alpha kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24292273
NCBI chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630
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Eng
endoglin
ISO
RGD
PMID:20042709
RGD:11041178
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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Epas1
endothelial PAS domain protein 1
IEP ISO
DNA:missense mutation:cds: 2097G>A,p.G537R(human)
RGD
PMID:16215633 PMID:18650473
RGD:10395375 , RGD:11041573
NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
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Ephx2
epoxide hydrolase 2
IMP
RGD
PMID:19226702
RGD:5688731
NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615
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Epo
erythropoietin
treatment
ISO
RGD
PMID:22559233
RGD:10400914
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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Esr1
estrogen receptor 1
ISO
RGD
PMID:20081107
RGD:4892253
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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Esr2
estrogen receptor 2
IDA
RGD
PMID:21700911
RGD:5508791
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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F5
coagulation factor V
ISO
Chronic thromboembolic pulmonary hypertension (CTEPH)
RGD
PMID:20182352
RGD:4892669
NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317
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Fbln5
fibulin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12189163
NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755
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Fgf2
fibroblast growth factor 2
IMP ISO
mRNA:increased expression:lung
RGD
PMID:19197140 PMID:19197140
RGD:2315911 , RGD:2315911
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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Fgfr1
Fibroblast growth factor receptor 1
IMP
RGD
PMID:19197140
RGD:2315911
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Foxo1
forkhead box O1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27663689
NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790
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Gata4
GATA binding protein 4
IEP
protein:increased expression:heart right ventricle
RGD
PMID:21059997
RGD:7207053
NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
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Gata6
GATA binding protein 6
IEP ISO
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 chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
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Gba1
glucosylceramidase beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12359135
NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
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Gdf2
growth differentiation factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26801773
NCBI chr16:9,255,430...9,261,429
Ensembl chr16:9,255,430...9,261,429
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Gja1
gap junction protein, alpha 1
treatment
IEP
mRNA:increased expression:pulmonary artery
RGD
PMID:21414209 PMID:23321332
RGD:7207411 , RGD:8662411
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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Gpr182
G protein-coupled receptor 182
IEP
mRNA:increased expression:lung
RGD
PMID:12622928
RGD:1625768
NCBI chr 7:63,585,997...63,589,088
Ensembl chr 7:63,578,750...63,589,210
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Has1
hyaluronan synthase 1
IEP
RGD
PMID:19915162
RGD:9588633
NCBI chr 1:58,693,411...58,705,653
Ensembl chr 1:58,693,411...58,705,397
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Has2
hyaluronan synthase 2
IEP
mRNA:increased expression:lung
RGD
PMID:19915162
RGD:9588633
NCBI chr 7:88,113,326...88,139,337
Ensembl chr 7:88,113,326...88,128,933
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Has3
hyaluronan synthase 3
IEP
mRNA:decreased expression:lung
RGD
PMID:19915162
RGD:9588633
NCBI chr19:34,768,421...34,782,170
Ensembl chr19:34,771,982...34,782,592
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Hdac1
histone deacetylase 1
ISO IEP
protein:increased expression:lung:
RGD
PMID:22711276 PMID:22711276
RGD:9590133 , RGD:9590133
NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
G
Hdac2
histone deacetylase 2
ISO
protein:decreased expression:lung:
RGD
PMID:22711276
RGD:9590133
NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609
G
Hdac3
histone deacetylase 3
ISO
protein:decreased expression:lung:
RGD
PMID:22711276
RGD:9590133
NCBI chr18:29,770,637...29,789,850
Ensembl chr18:29,770,636...29,793,856
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Hdac4
histone deacetylase 4
ISO
protein:increased expression:lung:
RGD
PMID:22711276
RGD:9590133
NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
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Hdac5
histone deacetylase 5
ISO IEP
protein:increased expression:lung:
RGD
PMID:22711276 PMID:22711276
RGD:9590133 , RGD:9590133
NCBI chr10:87,152,978...87,187,921
Ensembl chr10:87,152,978...87,188,235
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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 2:93,096,605...93,100,316
Ensembl chr 2:93,095,498...93,100,312
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Hif1a
hypoxia inducible factor 1 subunit alpha
IEP ISO
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 chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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Hif3a
hypoxia inducible factor 3 subunit alpha
IEP
RGD
PMID:16215633
RGD:10395375
NCBI chr 1:77,718,110...77,750,448
Ensembl chr 1:77,722,471...77,749,758
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Hk1
hexokinase 1
IEP
mRNA:increased expression:lung
RGD
PMID:25767292
RGD:11353880
NCBI chr20:30,230,488...30,332,099
Ensembl chr20:30,230,486...30,332,131
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Hmgb1
high mobility group box 1
treatment
IMP
RGD
PMID:25032709
RGD:10402082
NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
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Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
IMP
RGD
PMID:12750068
RGD:5508701
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
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Hmox1
heme oxygenase 1
IEP ISO IDA
RGD
PMID:14970910 PMID:20957739 PMID:19409105
RGD:1582715 , RGD:4145325 , RGD:4145307
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Hp
haptoglobin
treatment
ISO
protein:decreased expression:serum
RGD
PMID:2043024 PMID:25656991 PMID:19023114 PMID:19703762
RGD:1626353 , RGD:11041794 , RGD:5147440 , RGD:5147420
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Hpgd
15-hydroxyprostaglandin dehydrogenase
ISO
mRNA, protein:increased expression:lung
RGD
PMID:24657469
RGD:11667099
NCBI chr16:33,986,265...34,024,228
Ensembl chr16:33,986,266...34,024,228
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Htr1b
5-hydroxytryptamine receptor 1B
ameliorates
ISO
RGD
PMID:28473438
RGD:329955562
NCBI chr 8:82,513,572...82,534,670
Ensembl chr 8:82,517,360...82,534,549
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Htr2b
5-hydroxytryptamine receptor 2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14659797
NCBI chr 9:86,735,793...86,756,638
Ensembl chr 9:86,742,102...86,755,108
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Hyal1
hyaluronidase 1
IEP
mRNA:decreased expression:lung
RGD
PMID:19915162
RGD:9588633
NCBI chr 8:108,250,668...108,254,519
Ensembl chr 8:108,250,667...108,260,210
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Hyal2
hyaluronidase 2
IEP
mRNA:decreased expression:lung
RGD
PMID:19915162
RGD:9588633
NCBI chr 8:108,241,895...108,246,853
Ensembl chr 8:108,243,133...108,246,850
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Icam1
intercellular adhesion molecule 1
ISO
associated with Heart Defects, Congenital; protein:increased secretion:serum (human)
RGD
PMID:21034646
RGD:4145436
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Id1
inhibitor of DNA binding 1
IDA
RGD
PMID:20522807
RGD:9686087
NCBI chr 3:141,210,666...141,212,420
Ensembl chr 3:141,211,267...141,212,419
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Ifngr1
interferon gamma receptor 1
ISO
mRNA: increased expression
RGD
PMID:20808962
RGD:4892610
NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785
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Il10
interleukin 10
disease_progression
ISO
protein:increased expression:serum
RGD
PMID:20713898
RGD:4142530
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il13
interleukin 13
ISO
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 chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il13ra1
interleukin 13 receptor subunit alpha 1
ISO
RGD
PMID:20671265 PMID:20808962
RGD:4892611 , RGD:4892610
NCBI chr X:115,348,822...115,408,682
Ensembl chr X:115,348,860...115,408,681 Ensembl chr11:115,348,860...115,408,681
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Il13ra2
interleukin 13 receptor subunit alpha 2
ISO
mRNA:increased expression:lung
RGD
PMID:20522789
RGD:4892612
NCBI chr X:111,002,590...111,074,053
Ensembl chr X:111,002,592...111,072,381
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Il18
interleukin 18
ISO
RGD
PMID:17400729
RGD:4889590
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1b
interleukin 1 beta
ISO
protein:increased expression:serum associated with Scleroderma, Limited;protein:increased expression:serum
RGD
PMID:20713898 PMID:20808962
RGD:4142530 , RGD:4892610
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
ISO
RGD
PMID:7946395
RGD:4143197
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il23r
interleukin 23 receptor
ISO
associated with Scleroderma, Systemic;DNA:SNPs: :rs11209026, rs11465804 (human)
RGD
PMID:19918037
RGD:5096624
NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
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Il4
interleukin 4
ISO
RGD
PMID:20889544
RGD:5128515
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il6
interleukin 6
disease_progression
ISO IDA
RGD
PMID:20713898 PMID:20693255
RGD:4142530 , RGD:4143246
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Kcna5
potassium voltage-gated channel subfamily A member 5
ISO IDA
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 chr 4:159,354,689...159,358,173
Ensembl chr 4:159,350,097...159,357,697
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Kcnk3
potassium two pore domain channel subfamily K member 3
severity
ISO IMP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:30365877 PMID:31347976
RGD:151347452
NCBI chr 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153
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Kcnk3em1Ang
potassium two pore domain channel subfamily K member 3; CRISPR/Cas9 induced mutant1, Ang
severity
IMP
RGD
PMID:31347976
RGD:151347452
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Kcnma1
potassium calcium-activated channel subfamily M alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28090300
NCBI chr15:302,480...1,007,675
Ensembl chr15:302,214...1,001,198
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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 chr13:46,001,589...46,073,868
Ensembl chr13:46,002,542...46,073,872
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Lcn2
lipocalin 2
IEP ISO
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 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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Lepr
leptin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30689673
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Lox
lysyl oxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24614111
NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477
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Mapk1
mitogen activated protein kinase 1
treatment
ISO
RGD
PMID:25907942
RGD:13800893
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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Mapk3
mitogen activated protein kinase 3
treatment
ISO
RGD
PMID:25907942
RGD:13800893
NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
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Mfn1
mitofusin 1
IEP
protein:decreased expression:heart right ventricle (rat)
RGD
PMID:27422986
RGD:12910832
NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640
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Mif
macrophage migration inhibitory factor
ISO
associated with sclerodema, systemic; protein:increased expression:serum
RGD
PMID:18618071
RGD:4891006
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
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Mir125a
microRNA 125a
treatment
IDA
RGD
PMID:29700287
RGD:26884455
NCBI chr 1:58,677,626...58,677,710
Ensembl chr 1:58,677,626...58,677,710
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Mir145
microRNA 145
IEP
mRNA:decreased expression:pulmonary artery (rat)
RGD
PMID:35369850
RGD:155230820
NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
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Mir204
microRNA 204
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26224795
NCBI chr 1:220,316,931...220,317,040
Ensembl chr 1:220,316,931...220,317,040
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Mir21
microRNA 21
IEP
RNA:increased expression:lung
RGD
PMID:32402408
RGD:41410883
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Mir223
microRNA 223
treatment
IEP IDA ISO
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:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
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Mmp1
matrix metallopeptidase 1
IDA
RGD
PMID:23087098
RGD:7207217
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Mmp9
matrix metallopeptidase 9
severity
ISO IDA 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 chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mtor
mechanistic target of rapamycin kinase
IMP
RGD
PMID:23470622
RGD:10041039
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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Myc
MYC proto-oncogene, bHLH transcription factor
treatment
IDA
RGD
PMID:22306243
RGD:7240564
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Nampt
nicotinamide phosphoribosyltransferase
susceptibility
ISO IEP
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 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100
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Nfatc2
nuclear factor of activated T-cells 2
IMP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:27522126 PMID:17596340
RGD:1627651
NCBI chr 3:157,195,970...157,328,640
Ensembl chr 3:157,198,872...157,328,325
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Nos2
nitric oxide synthase 2
onset
ISO IEP
associated with Anoxia; mouse gene in rat model associated with Anoxia; protein:increased expression:pulmonary artery associated with Congenital diaphragmatic hernia; protein:decreased expression:pulmonary artery, endothelium associated with heart disease; protein:increased expression:endothelial cell associated with Scleroderma, Systemic; DNA:repeats, SNPs:promoter:(CCTTT), c.-1026C>T, c.-277A>G (human)
RGD
PMID:11104748 PMID:16113050 PMID:16456243 PMID:19912632 PMID:16813666
RGD:4891468 , RGD:1580936 , RGD:1580940 , RGD:5132602 , RGD:4891462
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nos3
nitric oxide synthase 3
treatment susceptibility
ISO IDA IEP IMP
DNA:polymorphism:cds:p.E298D (human) CTD Direct Evidence: marker/mechanism associated with Beta-Thalassemia;DNA:repeats:intron: RNA:increased expression:lung mRNA, protein:increased expression:pulmonary endothelial cell associated with heart disease; protein:increased expression:endothelial cell protein:increased expression:arteriole associated with chronic obstructive pulmonary disease; DNA:polymorphism:cds:p.G894T (human)
CTD RGD
PMID:21144100 PMID:21144100 PMID:29151278 PMID:25699607 PMID:11686901 PMID:20724942 PMID:19912632 PMID:21111729 PMID:19487814 PMID:20215577 PMID:17065228 PMID:18953956 More...
RGD:4892009 , RGD:13504742 , RGD:11533642 , RGD:5132631 , RGD:4892004 , RGD:5132602 , RGD:4892010 , RGD:4892039 , RGD:4892038 , RGD:4892043 , RGD:4892042
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Notch1
notch receptor 1
ameliorates
ISO
RGD
PMID:34739767
RGD:155646132
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Nox1
NADPH oxidase 1
treatment ameliorates
ISO IEP IDA
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:97,279,058...97,332,291
Ensembl chr X:97,279,056...97,302,236
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Nox4
NADPH oxidase 4
ISO
associated with Anoxia;mRNA, protein:increased expression:lung
RGD
PMID:18952568
RGD:4762683
NCBI chr 1:140,900,886...141,078,844
Ensembl chr 1:140,901,097...141,077,406
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Nppa
natriuretic peptide A
IDA
RGD
PMID:2136863
RGD:7247720
NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
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Nppb
natriuretic peptide B
severity
IEP ISO
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20408845 PMID:21351102 PMID:16936438 PMID:16893710
RGD:1642203 , RGD:1642205
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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Pde3a
phosphodiesterase 3A
IEP
mRNA:increased expression:pulmonary artery
RGD
PMID:12466227
RGD:1582528
NCBI chr 4:174,172,804...174,443,944
Ensembl chr 4:174,172,868...174,438,274
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Pde5a
phosphodiesterase 5A
IMP
RGD
PMID:19881228
RGD:2314460
NCBI chr 2:210,858,515...211,003,480
Ensembl chr 2:210,858,063...210,999,701
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Pdgfa
platelet derived growth factor subunit A
IEP
RGD
PMID:8447423
RGD:1580847
NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497
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Pdgfb
platelet derived growth factor subunit B
IEP ISO
RGD
PMID:8447423 PMID:21819559 PMID:22523431
RGD:1580847 , RGD:6482859 , RGD:6482831
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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Pdia3
protein disulfide isomerase family A, member 3
IEP
protein:increased expression:lung:
RGD
PMID:23315792
RGD:9999167
NCBI chr 3:108,388,189...108,412,013
Ensembl chr 3:108,388,245...108,413,236
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Pecam1
platelet and endothelial cell adhesion molecule 1
treatment
IDA
RGD
PMID:22559233
RGD:10400914
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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Pgf
placental growth factor
ISO
associated with Anemia, Sickle Cell;protein:increased expression:plasma associated with Heart Defects, Congenital
RGD
PMID:20040765 PMID:20195855
RGD:6483588 , RGD:6483610
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
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Prkg1
protein kinase cGMP-dependent 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21351102
NCBI chr 1:228,409,605...229,638,794
Ensembl chr 1:228,408,947...229,639,080
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Ptgis
prostaglandin I2 synthase
treatment susceptibility
IMP ISO
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 chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451
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Ptgs2
prostaglandin-endoperoxide synthase 2
IMP ISO
anoxia associated;
RGD
PMID:18542928 PMID:19577709
RGD:2300276 , RGD:5135495
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Ptk2
protein tyrosine kinase 2
ISO
RGD
PMID:16244766
RGD:1581290
NCBI chr 7:105,126,725...105,331,848
Ensembl chr 7:105,126,728...105,331,783
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Ramp2
receptor activity modifying protein 2
IEP
mRNA:increased expression:heart right ventricle
RGD
PMID:17437045
RGD:1642678
NCBI chr10:86,187,366...86,190,692
Ensembl chr10:86,188,812...86,231,829
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Rela
RELA proto-oncogene, NF-kB subunit
IEP 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 chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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Rhoa
ras homolog family member A
IEP
protein:altered localization:membrane, artery, lung protein:altered localization:pulmonary artery
RGD
PMID:18091588 PMID:16322374
RGD:2298877 , RGD:1642819
NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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Ryr1
ryanodine receptor 1
IEP
protein:altered localization: :
RGD
PMID:24692174
RGD:329813077
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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Ryr2
ryanodine receptor 2
IEP
protein:increased expression:pulmonary artery
RGD
PMID:22962011
RGD:329813078
NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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Ryr3
ryanodine receptor 3
IEP
protein:altered localization: :
RGD
PMID:24692174
RGD:329813077
NCBI chr 3:99,431,755...99,979,125
Ensembl chr 3:99,432,505...99,704,961
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Serpina1
serpin family A member 1
IDA ISO
protein:decreased expression:serum
RGD
PMID:1836309 PMID:17444595
RGD:1643154 , RGD:1643144
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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Serpine1
serpin family E member 1
treatment
ISO IDA
mRNA, protein:decreased expression:lung DNA:polymorphism:3'utr
RGD
PMID:18337154 PMID:27115515 PMID:20300292
RGD:4143529 , RGD:11073610 , RGD:4143527
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Slc1a5
solute carrier family 1 member 5
ISO
protein:increased expression:myocytes plasma membrane, right ventricle
RGD
PMID:23794090
RGD:151361111
NCBI chr 1:77,456,849...77,470,952
Ensembl chr 1:77,456,694...77,470,952
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Slc2a4
solute carrier family 2 member 4
IEP
RGD
PMID:19043358
RGD:2313622
NCBI chr10:54,666,015...54,671,581
Ensembl chr10:54,666,015...54,671,565
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Slc31a1
solute carrier family 31 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24614111
NCBI chr 5:75,814,744...75,844,241
Ensembl chr 5:75,814,743...75,844,228
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Slc6a4
solute carrier family 6 member 4
onset no_association severity
ISO IDA IMP
DNA:repeat:promoter (human) CTD Direct Evidence: marker/mechanism associated with Heart Septal Defects, Ventricular;DNA:polymorphisms (human) associated with Anoxia DNA:polymorphism, repeat:promoter, intron (human) associated with Pulmonary Disease, Chronic Obstructive;DNA:polymorphism (human)
CTD RGD
PMID:18506000 PMID:16339917 PMID:19886858 PMID:11259539 PMID:19736308 PMID:16399993 PMID:19556740 PMID:19736308 PMID:19473340 PMID:18074800 More...
RGD:4889442 , RGD:4889430 , RGD:4889445 , RGD:4889432 , RGD:4889440 , RGD:4889434 , RGD:4889432 , RGD:4889435 , RGD:4889437
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
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Slc8a1
solute carrier family 8 member A1
ISO
protein:increased expression:pulmonary artery, smooth muscle cell
RGD
PMID:17192285
RGD:1642711
NCBI chr 6:13,194,609...13,547,369
Ensembl chr 6:13,194,662...13,535,628
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Smad1
SMAD family member 1
IEP IDA
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 chr19:28,513,130...28,573,665
Ensembl chr19:28,513,131...28,573,651
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Smad4
SMAD family member 4
IEP
RGD
PMID:17347486 PMID:18367643
RGD:1643222 , RGD:12903274
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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Smad6
SMAD family member 6
IEP
mRNA:decreased expression:lung
RGD
PMID:17347486
RGD:1643222
NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
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Smad7
SMAD family member 7
IEP
RGD
PMID:17347486
RGD:1643222
NCBI chr18:68,988,429...69,016,774
Ensembl chr18:68,988,429...69,016,765
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Smad9
SMAD family member 9
IEP
RGD
PMID:17347486
RGD:1643222
NCBI chr 2:138,956,326...139,006,315
Ensembl chr 2:138,986,471...139,006,307
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Smpd3
sphingomyelin phosphodiesterase 3
treatment
IMP
RGD
PMID:19088082
RGD:10042965
NCBI chr19:34,162,337...34,245,786
Ensembl chr19:34,162,341...34,245,749
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20110409
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Sox17
SRY-box transcription factor 17
IEP
protein:decreased expression:lung (rat)
RGD
PMID:36913491
RGD:329853317
NCBI chr 5:15,016,660...15,022,228
Ensembl chr 5:15,016,731...15,022,228
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Tac1
tachykinin, precursor 1
IMP
RGD
PMID:12662901
RGD:5147638
NCBI chr 4:35,679,183...35,687,180
Ensembl chr 4:35,679,704...35,687,178
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Tacr1
tachykinin receptor 1
IMP
RGD
PMID:12662901
RGD:5147638
NCBI chr 4:114,920,844...115,089,733
Ensembl chr 4:114,920,844...115,089,733
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Tacr2
tachykinin receptor 2
IMP
RGD
PMID:12662901
RGD:5147638
NCBI chr20:30,208,907...30,223,446
Ensembl chr20:30,208,907...30,223,446
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Tek
TEK receptor tyrosine kinase
ISO
mRNA, protein:increased expression:lung
RGD
PMID:16917117
RGD:1601487
NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804
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Tert
telomerase reverse transcriptase
treatment
IEP ISO
RGD
PMID:24376652 PMID:24376652
RGD:11038675 , RGD:11038675
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tgfa
transforming growth factor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18424623
NCBI chr 4:118,618,043...118,700,897
Ensembl chr 4:118,618,269...118,700,894
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Tgfb1
transforming growth factor, beta 1
onset
ISO
DNA:SNPs: :multiple (human) protein:increased expression:blood
RGD
PMID:18496036 PMID:19324949
RGD:4145273 , RGD:4145138
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tgfbr1
transforming growth factor, beta receptor 1
IMP
RGD
PMID:18202349
RGD:2302019
NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
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Tgfbr2
transforming growth factor, beta receptor 2
IEP
mRNA:decreased expression:lung
RGD
PMID:17392319
RGD:1601116
NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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Thbd
thrombomodulin
ISO
associated with Mixed Connective Tissue Disease
RGD
PMID:16784493
RGD:1601639
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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Thpo
thrombopoietin
ISO
protein:increased expression:pulmonary artery, plasma
RGD
PMID:12487786
RGD:1580087
Ensembl chr11:80,182,820...80,188,167
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Tlr4
toll-like receptor 4
ISO
associated anoxia
RGD
PMID:20205596
RGD:4144108
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tnc
tenascin C
severity
ISO IDA IEP
protein:increased expression:plasma
RGD
PMID:20528622 PMID:16782755 PMID:15879421 PMID:19288153
RGD:4889562 , RGD:4889567 , RGD:4889570 , RGD:4889564
NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
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Tnf
tumor necrosis factor
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 chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tp53
tumor protein p53
treatment
ISO
RGD
PMID:24334871
RGD:10043360
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Tp53bp1
tumor protein p53 binding protein 1
ISO
protein:increased expression:lung
RGD
PMID:24270264
RGD:9586752
NCBI chr 3:108,166,574...108,270,229
Ensembl chr 3:108,169,980...108,269,822
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Tph1
tryptophan hydroxylase 1
severity
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18506000 PMID:17675372
RGD:5686352
NCBI chr 1:97,157,375...97,178,415
Ensembl chr 1:97,157,409...97,178,344
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Tph2
tryptophan hydroxylase 2
severity
ISO
DNA:SNP: :1473C>G (mouse)
RGD
PMID:17675372
RGD:5686352
NCBI chr 7:50,685,694...50,789,424
Ensembl chr 7:50,685,694...50,789,424
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Trpc3
transient receptor potential cation channel, subfamily C, member 3
ISO
RGD
PMID:15358862
RGD:1580490
NCBI chr 2:119,481,313...119,619,333
Ensembl chr 2:119,481,400...119,558,855
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Trpc6
transient receptor potential cation channel, subfamily C, member 6
ISO
RGD
PMID:15358862
RGD:1580490
NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
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Trpv4
transient receptor potential cation channel, subfamily V, member 4
IEP
protein:increased expression:pulmonary artery
RGD
PMID:22962011
RGD:329813078
NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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Twist1
twist family bHLH transcription factor 1
treatment
IEP
RGD
PMID:25593290
RGD:38500244
NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
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Uts2
urotensin 2
IEP
RGD
PMID:15042392
RGD:2306848
NCBI chr 5:161,450,846...161,456,235
Ensembl chr 5:161,450,846...161,456,237
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Vcam1
vascular cell adhesion molecule 1
IEP
protein:increased expression:blood vessel endothelium
RGD
PMID:17934115
RGD:2298843
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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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 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Vegfb
vascular endothelial growth factor B
ISO
RGD
PMID:12547729
RGD:1625708
NCBI chr 1:204,172,297...204,178,046
Ensembl chr 1:204,172,225...204,177,944
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Vim
vimentin
IEP
protein:increased expression, increased phosphorylation:lung
RGD
PMID:25593290
RGD:38500244
NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
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Vip
vasoactive intestinal peptide
IDA
RGD
PMID:22140628
RGD:5685374
NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
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Vwf
von Willebrand factor
ISO
RGD
PMID:14507115
RGD:1580645
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
susceptibility
ISO
DNA:polymorphisms:cds:HLA-DPB1*0202 (human)
RGD
PMID:19165231
RGD:5143999
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
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Ahr
aryl hydrocarbon receptor
treatment
IMP
RGD
PMID:33836606
RGD:401940192
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
IEP
mRNA:increased expression:lung (rat)
RGD
PMID:33836606
RGD:401940192
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Egfr
epidermal growth factor receptor
treatment
IMP
RGD
PMID:31264901
RGD:38599217
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Egln1
egl-9 family hypoxia-inducible factor 1
IEP
RGD
PMID:16761101
RGD:11252085
NCBI chr19:52,867,900...52,907,308
Ensembl chr19:52,869,486...52,907,777
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Egln3
egl-9 family hypoxia-inducible factor 3
IEP
RGD
PMID:16761101
RGD:11252085
NCBI chr 6:71,650,297...71,675,766
Ensembl chr 6:71,650,297...71,675,766
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G6pd
glucose-6-phosphate dehydrogenase
treatment
IMP
RGD
PMID:25063801
RGD:10449119
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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Got1
glutamic-oxaloacetic transaminase 1
IEP
mRNA:decreased expression:lung (rat)
RGD
PMID:19823174
RGD:4145499
NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633
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Got2
glutamic-oxaloacetic transaminase 2
IEP
mRNA:decreased expression:lung (rat)
RGD
PMID:19823174
RGD:4145499
NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994
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Hpgd
15-hydroxyprostaglandin dehydrogenase
IEP
mRNA, protein:increased expression:lung
RGD
PMID:24657469
RGD:11667099
NCBI chr16:33,986,265...34,024,228
Ensembl chr16:33,986,266...34,024,228
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Mfn2
mitofusin 2
IEP
mRNA, protein:decreased expression:lung (rat)
RGD
PMID:26485208
RGD:12910856
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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Nog
noggin
IEP
mRNA,protein:decreased expression:lung:
RGD
PMID:25740156
RGD:12801489
NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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Nos3
nitric oxide synthase 3
IEP
mRNA,protein:increased expression:pulmonary artery
RGD
PMID:9950873
RGD:11533933
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Pcna
proliferating cell nuclear antigen
IEP
protein:increased expression:lung (rat)
RGD
PMID:26485208
RGD:12910856
NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
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Ptgis
prostaglandin I2 synthase
treatment
IEP
RGD
PMID:12062720
RGD:401959327
NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451
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Ptprd
protein tyrosine phosphatase, receptor type, D
IEP
mRNA, protein:decreased expression:pulmonary artery (rat)
RGD
PMID:35848503
RGD:401976433
NCBI chr 5:90,046,993...90,698,977 NCBI chr 5:91,122,354...91,641,754
Ensembl chr 5:90,048,966...92,369,396
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Slc39a12
solute carrier family 39 member 12
severity
IMP
RGD
PMID:26258299 PMID:26258299
RGD:10401832 , RGD:10401832
NCBI chr17:77,353,761...77,440,384
Ensembl chr17:77,353,805...77,440,353
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Slc39a12em77Tja
solute carrier family 39 (zinc transporter), member 12; zinc finger nuclease induced mutant 77, Timothy J. Aitman
severity
IMP
RGD
PMID:26258299 PMID:26258299
RGD:10401832 , RGD:10401832
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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 5:15,016,660...15,022,228
Ensembl chr 5:15,016,731...15,022,228
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Atf4
activating transcription factor 4
IEP
protein:increased expression:lung
RGD
PMID:32209028
RGD:38549370
NCBI chr 7:111,804,135...111,806,457
Ensembl chr 7:111,804,183...111,806,446
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Bmpr2
bone morphogenetic protein receptor type 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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Ddit3
DNA-damage inducible transcript 3
ISO IEP
protein:increased expression:lung, endothelial cell
RGD
PMID:32209028 PMID:32209028
RGD:38549370 , RGD:38549370
NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
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Eif2ak2
eukaryotic translation initiation factor 2-alpha kinase 2
IEP
protein:increased expression:lung
RGD
PMID:32209028
RGD:38549370
NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971
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Eif2ak3
eukaryotic translation initiation factor 2 alpha kinase 3
IEP
protein:increased expression:lung
RGD
PMID:32209028
RGD:38549370
NCBI chr 4:102,805,495...102,866,914
Ensembl chr 4:102,805,510...102,866,911
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Eif2ak4
eukaryotic translation initiation factor 2 alpha kinase 4
disease_progression
ISO IEP
CTD Direct Evidence: marker/mechanism protein:decreased expression:lung
CTD RGD
PMID:24292273 PMID:32209028 PMID:32209028
RGD:38549370 , RGD:38549370
NCBI chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630
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Erg
ETS transcription factor ERG
IEP ISO
protein:decreased expression:lung
RGD
PMID:32209028 PMID:32209028
RGD:38549370 , RGD:38549370
NCBI chr11:34,678,614...34,900,951
Ensembl chr11:34,678,618...34,845,871
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Hmox1
heme oxygenase 1
ISO IEP
protein:increased expression:lung, endothelial cell
RGD
PMID:32209028 PMID:32209028
RGD:38549370 , RGD:38549370
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Kcnk3
potassium two pore domain channel subfamily K member 3
IDA
RGD
PMID:32209028
RGD:38549370
NCBI chr 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153
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Bmpr2
bone morphogenetic protein receptor type 2
ISO
ClinVar Annotator: match by term: BMPR2-related condition | ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1
OMIM ClinVar
PMID:3291115 PMID:10903931 PMID:11115378 PMID:11502704 PMID:12045205 PMID:12446270 PMID:14985116 PMID:15059534 PMID:15591269 PMID:15965979 PMID:16429395 PMID:16429403 PMID:18356561 PMID:18626305 PMID:19555857 PMID:20002458 PMID:20096498 PMID:20534176 PMID:21070126 PMID:21737554 PMID:21801371 PMID:23298310 PMID:24292273 PMID:25741868 PMID:26387786 PMID:28388887 PMID:28492532 PMID:28507310 PMID:31727138 PMID:32581362 More...
NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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Eif2ak4
eukaryotic translation initiation factor 2 alpha kinase 4
ISO
ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1
ClinVar
PMID:24033266
NCBI chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630
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Bmpr2
bone morphogenetic protein receptor type 2
ISO
ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis
ClinVar
PMID:18626305 PMID:24292273
NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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Eif2ak4
eukaryotic translation initiation factor 2 alpha kinase 4
ISO
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 chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630
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Agt
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8763405
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Agtr1a
angiotensin II receptor, type 1a
IEP
mRNA:decreased expression:kidney:
RGD
PMID:7591011
RGD:10047107
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
IEP
protein:decreased expression:vascular associated smooth muscle cell
RGD
PMID:17439406
RGD:2289672
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Crp
C-reactive protein
IEP
protein:increased expression:serum
RGD
PMID:22188107
RGD:6907405
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Cyp2c79
cytochrome P450, family 2, subfamily c, polypeptide 79
ISO
RGD
PMID:20495177
RGD:7243143
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Cyp2j4
cytochrome P450, family 2, subfamily j, polypeptide 4
IEP ISO
protein:increased expression:kidney
RGD
PMID:10779386 PMID:20495177
RGD:1625381 , RGD:7243143
NCBI chr 5:111,179,981...111,207,490
Ensembl chr 5:111,178,703...111,244,794
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Hmox1
heme oxygenase 1
IDA
RGD
PMID:16316349
RGD:1582711
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Hspa8
heat shock protein family A (Hsp70) member 8
ISO
DNA: snp: 5'utr: -110A>C
RGD
PMID:21475814
RGD:7242785
NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259
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Il6
interleukin 6
IEP
protein:increased expression:serum
RGD
PMID:22188107
RGD:6907405
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Mir214
microRNA 214
ameliorates
IMP
RGD
PMID:30049682
RGD:38500245
NCBI chr13:74,588,374...74,588,481
Ensembl chr13:74,588,372...74,588,481
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Mmp2
matrix metallopeptidase 2
IDA
RGD
PMID:12923405
RGD:1302333
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp7
matrix metallopeptidase 7
IEP
protein:increased expression:kidney medulla
RGD
PMID:12923405
RGD:1302333
NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902
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Mmp9
matrix metallopeptidase 9
IDA
RGD
PMID:12923405
RGD:1302333
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mt-nd1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
ISO
DNA:missense mutation
RGD
PMID:18194667
RGD:2300400
NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
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Myh9
myosin, heavy chain 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18794856
NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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Nos2
nitric oxide synthase 2
IMP
RGD
PMID:20360752
RGD:4891374
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nos3
nitric oxide synthase 3
IDA
RGD
PMID:20938214
RGD:4891989
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Nppa
natriuretic peptide A
IEP ISO
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 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
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Nppb
natriuretic peptide B
IEP ISO
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 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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Timp4
TIMP metallopeptidase inhibitor 4
IEP
protein:increased expression:kidney medulla
RGD
PMID:12923405
RGD:1302333
NCBI chr 4:148,306,021...148,312,558
Ensembl chr 4:148,304,490...148,312,558
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Tnf
tumor necrosis factor
IEP
protein:increased expression:serum
RGD
PMID:22188107
RGD:6907405
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Cat
catalase
IMP
RGD
PMID:22733796
RGD:7206853
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Ace
angiotensin I converting enzyme
treatment
IEP IDA
RGD
PMID:22342460 PMID:20630208
RGD:6893471 , RGD:8157609
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Adm
adrenomedullin
ISO
protein:increased expression:plasma
RGD
PMID:15284680
RGD:1625303
NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
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Adrb1
adrenoceptor beta 1
IMP IDA
RGD
PMID:17278011 PMID:15592645
RGD:7241568 , RGD:7241580
NCBI chr 1:255,771,962...255,774,973
Ensembl chr 1:255,771,597...255,807,259
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Agtr1a
angiotensin II receptor, type 1a
IMP IEP
mRNA:decreased expression:kidney:
RGD
PMID:21326341 PMID:9644212 PMID:16796846
RGD:5129177 , RGD:10047119 , RGD:5147455
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Agtr1b
angiotensin II receptor, type 1b
treatment
IEP
mRNA:increased expression:kidney:
RGD
PMID:9644212
RGD:10047119
NCBI chr 2:102,844,969...102,920,232
Ensembl chr 2:102,844,969...102,920,232
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Agtr2
angiotensin II receptor, type 2
IDA IMP
RGD
PMID:21189405 PMID:18158356
RGD:6903867 , RGD:6903868
NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057
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Avpr1a
arginine vasopressin receptor 1A
IEP
mRNA:altered expression:brain
RGD
PMID:15613739
RGD:2300323
NCBI chr 7:58,114,306...58,118,230
Ensembl chr 7:58,114,284...58,122,215
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Camk2d
calcium/calmodulin-dependent protein kinase II delta
treatment
IEP
RGD
PMID:26619200
RGD:401940196
NCBI chr 2:215,023,785...215,287,351
Ensembl chr 2:215,024,004...215,286,178
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Ccnd2
cyclin D2
IEP
protein:increased expression:left ventricle:
RGD
PMID:26300251
RGD:151664604
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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Cma1
chymase 1
IEP
protein:increased activity:kidney (rat)
RGD
PMID:15869764
RGD:1581745
NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
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Cxcl10
C-X-C motif chemokine ligand 10
IDA
RGD
PMID:17062848
RGD:2311383
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cxcr3
C-X-C motif chemokine receptor 3
IDA
RGD
PMID:17062848
RGD:2311383
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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Dyrk1a
dual specificity tyrosine phosphorylation regulated kinase 1A
treatment
IEP
RGD
PMID:26619200
RGD:401940196
NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420
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Eif4g2
eukaryotic translation initiation factor 4, gamma 2
IEP
mRNA:increased expression:heart left ventricle
RGD
PMID:12708758
RGD:10755511
NCBI chr 1:165,181,433...165,193,583
Ensembl chr 1:165,181,434...165,193,588
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Fn1
fibronectin 1
IDA
RGD
PMID:17324142
RGD:7205461
NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
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G6pd
glucose-6-phosphate dehydrogenase
treatment
IEP
RGD
PMID:22684021
RGD:10449172
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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Gja1
gap junction protein, alpha 1
IEP
RGD
PMID:11422751
RGD:7207851
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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Gja5
gap junction protein, alpha 5
IEP
RGD
PMID:11422751
RGD:7207851
NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952
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Havcr1
hepatitis A virus cellular receptor 1
ISO
protein:increased expression:urine:
RGD
PMID:22923545
RGD:7245500
NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
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Hdac8
histone deacetylase 8
treatment
IEP
RGD
PMID:27673327
RGD:13208809
NCBI chr X:67,385,288...67,593,014
Ensembl chr X:67,385,289...67,592,923
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Lama2
laminin subunit alpha 2
IEP
mRNA:decreased expression:heart
RGD
PMID:10773239
RGD:1600206
NCBI chr 1:17,672,675...18,320,641
Ensembl chr 1:17,672,536...18,320,530
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Lcn2
lipocalin 2
ISO
protein:increased expression:urine,plasma
RGD
PMID:22923545
RGD:7245500
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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Mpo
myeloperoxidase
IEP
protein:increased activity:heart, brain, kidney
RGD
PMID:19549002
RGD:7174698
NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
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Nos1
nitric oxide synthase 1
IEP
RGD
PMID:16788145
RGD:1642130
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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Nos3
nitric oxide synthase 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18641695
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Pdgfa
platelet derived growth factor subunit A
IEP
mRNA:increased expression:vascular associated smooth muscle cell
RGD
PMID:17439406
RGD:2289672
NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497
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Prl
prolactin
IEP
protein:increased expression:plasma
RGD
PMID:17316702
RGD:1642574
NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
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Ptger3
prostaglandin E receptor 3
IEP
protein:increased expression:kidney (rat)
RGD
PMID:16788145
RGD:1642130
NCBI chr 2:246,606,131...246,750,970
Ensembl chr 2:246,606,183...246,684,434
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Ptgs1
prostaglandin-endoperoxide synthase 1
IMP
RGD
PMID:17766473
RGD:2300258
NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
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Rela
RELA proto-oncogene, NF-kB subunit
IEP
protein:increased expression:nucleus, kidney
RGD
PMID:18032469
RGD:2298840
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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Ren
renin
ISO
mRNA:increased expression:renal cortex (mouse) protein:increased activity:blood plasma (human)
RGD
PMID:22378822 PMID:2240003
RGD:6892688 , RGD:125097504
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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Slc9a1
solute carrier family 9 member A1
treatment
IEP
RGD
PMID:12218313
RGD:727424
NCBI chr 5:145,576,341...145,629,630
Ensembl chr 5:145,576,334...145,629,624
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Slc9a3
solute carrier family 9 member A3
treatment
IEP
RGD
PMID:12218313
RGD:727424
NCBI chr 1:29,124,633...29,167,912
Ensembl chr 1:29,124,674...29,167,417
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Spp1
secreted phosphoprotein 1
IDA
RGD
PMID:12620700
RGD:1581326
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Srsf1
serine and arginine rich splicing factor 1
treatment
IEP
RGD
PMID:26619200
RGD:401940196
NCBI chr10:72,838,926...72,859,066
Ensembl chr10:72,839,274...72,845,336
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Acvr1
activin A receptor type 1
severity
ISO
mRNA:increased expression:decidua basalis (human)
RGD
PMID:24331737
RGD:329845529
NCBI chr 3:42,978,558...43,097,892
Ensembl chr 3:42,978,561...43,098,241
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Apex1
apurinic/apyrimidinic endodeoxyribonuclease 1
susceptibility
ISO
DNA:polymorphism::p.D148E (human)
RGD
PMID:24619222
RGD:401850778
NCBI chr15:24,144,595...24,146,785
Ensembl chr15:24,144,362...24,146,785
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Col4a2
collagen type IV alpha 2 chain
severity
ISO
mRNA:increased expression:decidua basalis (human)
RGD
PMID:24331737
RGD:329845529
NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839
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Erap1
endoplasmic reticulum aminopeptidase 1
severity
ISO
mRNA:increased expression:decidua basalis (human)
RGD
PMID:24331737
RGD:329845529
NCBI chr 2:3,931,817...3,970,735
Ensembl chr 2:3,931,904...3,972,447
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Gpx3
glutathione peroxidase 3
ISO
protein:increased expression:plasma
RGD
PMID:8476834
RGD:401827852
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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H19
H19 imprinted maternally expressed transcript
severity
ISO
DNA:promoter:exon 1:hypermethylation
RGD
PMID:24969494
RGD:156430323
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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Lnpep
leucyl and cystinyl aminopeptidase
severity
ISO
mRNA:increased expression:decidua basalis (human)
RGD
PMID:24331737
RGD:329845529
NCBI chr 1:58,258,642...58,355,532
Ensembl chr 1:58,258,642...58,354,544
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Mir155
microRNA 155
severity
ISO
miRNA:increased expression:blood serum (human)
RGD
PMID:31487655
RGD:155582220
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mir210
microRNA 210
severity
ISO
miRNA:increased expression:blood serum (human) miRNA:increased expression:blood plasma (human)
RGD
PMID:31487655 PMID:33778218
RGD:155582220 , RGD:155582221
NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454
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Rbp4
retinol binding protein 4
severity
ISO
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 chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
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Fbn1
fibrillin 1
ISO
ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant | ClinVar Annotator: match by term: Weill-Marchesani syndrome 2
OMIM ClinVar
PMID:627879 PMID:948948 PMID:1852208 PMID:2005308 PMID:2254511 PMID:2796200 PMID:3212331 PMID:3495735 PMID:4750422 PMID:7802039 PMID:7870075 PMID:8004112 PMID:8040326 PMID:8541880 PMID:8653794 PMID:8723076 PMID:8791520 PMID:9338581 PMID:9399842 PMID:9401003 PMID:9452085 PMID:9536098 PMID:9837823 PMID:10464652 PMID:10486319 PMID:10533071 PMID:10612827 PMID:10633129 PMID:11068200 PMID:11143906 PMID:11175294 PMID:11315929 PMID:11524736 PMID:11700157 PMID:11702223 PMID:11748851 PMID:11826022 PMID:11933199 PMID:11992479 PMID:12068374 PMID:12161601 PMID:12203987 PMID:12203992 PMID:12402346 PMID:12446365 PMID:12525539 PMID:12938084 PMID:14695540 PMID:15054843 PMID:15062093 PMID:15161917 PMID:15241795 PMID:15880509 PMID:15980072 PMID:16199547 PMID:16220557 PMID:16222657 PMID:16342915 PMID:16571647 PMID:16677079 PMID:16756980 PMID:16765689 PMID:16835936 PMID:16905551 PMID:16971892 PMID:17242066 PMID:17253931 PMID:17418587 PMID:17503327 PMID:17576681 PMID:17627385 PMID:17657824 PMID:17663468 PMID:17679947 PMID:17701892 PMID:17718856 PMID:18079676 PMID:18087243 PMID:18435798 PMID:18615205 PMID:19012347 PMID:19059503 PMID:19089573 PMID:19159394 PMID:19161152 PMID:19293843 PMID:19328768 PMID:19349279 PMID:19353630 PMID:19370756 PMID:19533785 PMID:19618372 PMID:19780835 PMID:19802897 PMID:19839986 PMID:19863550 PMID:19941982 PMID:20301510 PMID:20375004 PMID:20564469 PMID:20699357 PMID:20886638 PMID:21542060 PMID:21784848 PMID:21883168 PMID:21895641 PMID:21907952 PMID:21932315 PMID:22772377 PMID:22950452 PMID:23278365 PMID:23506379 PMID:23577066 PMID:23608731 PMID:23684891 PMID:23719250 PMID:23794388 PMID:24033266 PMID:24161884 PMID:24199744 PMID:24793577 PMID:24833718 PMID:24941995 PMID:25053872 PMID:25101912 PMID:25326635 PMID:25363768 PMID:25637381 PMID:25644172 PMID:25652356 PMID:25741868 PMID:25812041 PMID:25852444 PMID:25900864 PMID:25907466 PMID:25944730 PMID:26133393 PMID:26188975 PMID:26214305 PMID:26269718 PMID:26272055 PMID:26272908 PMID:26333736 PMID:26498160 PMID:26559152 PMID:26621581 PMID:26787436 PMID:26875674 PMID:27058611 PMID:27106435 PMID:27112580 PMID:27146836 PMID:27153395 PMID:27234404 PMID:27274304 PMID:27353645 PMID:27437668 PMID:27582083 PMID:27611364 PMID:27647783 PMID:27724990 PMID:27906200 PMID:27930701 PMID:27959697 PMID:28050602 PMID:28054583 PMID:28087566 PMID:28098115 PMID:28301460 PMID:28468757 PMID:28492532 PMID:28539832 PMID:28550590 PMID:28636274 PMID:28642162 PMID:28650953 PMID:28655553 PMID:28659821 PMID:28847661 PMID:28855619 PMID:28901506 PMID:28941062 PMID:28973303 PMID:29357934 PMID:29510914 PMID:29543232 PMID:29768367 PMID:29848614 PMID:29875124 PMID:29907982 PMID:30056620 PMID:30057829 PMID:30341550 PMID:30471092 PMID:30513137 PMID:30542390 PMID:30653986 PMID:30675029 PMID:30739908 PMID:30838813 PMID:31008308 PMID:31020005 PMID:31098894 PMID:31163209 PMID:31167969 PMID:31211624 PMID:31211626 PMID:31227806 PMID:31605817 PMID:31727422 PMID:31730815 PMID:31751304 PMID:31774634 PMID:31825148 PMID:31903434 PMID:31950671 PMID:32009526 PMID:32123317 PMID:32679894 PMID:32730690 PMID:32939518 PMID:33030311 PMID:33100332 PMID:33243733 PMID:33282382 PMID:33436942 PMID:33483584 PMID:33824467 PMID:34008892 PMID:34135346 PMID:34150014 PMID:34281902 PMID:34422331 PMID:34498425 PMID:34653508 PMID:34818515 PMID:34957211 PMID:35877578 PMID:36973604 PMID:37042257 PMID:37460677 PMID:37684520 More...
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
18969
disease of anatomical entity
0
cardiovascular system disease
5412
vascular disease
4012
artery disease
2825
hypertension
1728
Adams Nance Syndrome
0
Diastolic Hypertension, Resistance to
2
Faye-Petersen Ward Carey Syndrome
0
Grange Syndrome
1
Hypertension Resistant to Conventional Therapy
3
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy
1
Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial
0
Idiopathic Intracranial Hypertension with Papilledema
0
Isolated Systolic Hypertension
2
Kallikrein Hypertension
0
Masked Hypertension
1
Pregnancy-Induced Hypertension +
163
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension
0
Stress-Induced Hypertension
35
Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria
0
White Coat Hypertension
0
early onset hypertension
0
essential hypertension +
51
hypertension and brachydactyly syndrome
1
hypertensive retinopathy
2
malignant hypertension +
7
ocular hypertension +
186
pulmonary hypertension +
415
secondary hypertension +
98