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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Elevated diastolic blood pressure
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Accession:HP:0005117 term browser browse the term
Definition:Abnormal increase in diastolic blood pressure.
Comment:Normal diastolic blood pressure is less than 80 mmHg.
Synonyms:exact_synonym: Elevated diastolic BP
 xref: UMLS:C1840375



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Elevated diastolic blood pressure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme no_association IAGP associated with Diabetes Mellitus, Type 1;DNA:deletion:intron:IVS16+1464-1751del RGD PMID:7729604 RGD:7829780 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G ACE2 angiotensin converting enzyme 2 IAGP DNA:SNP:intron:8790A>G, associated with Metabolic Syndrome X (MeSH:D024821) RGD PMID:16459167 RGD:1642828 NCBI chr  X:15,518,197...15,607,211
Ensembl chr  X:15,494,566...15,607,236
JBrowse link
G ADD1 adducin 1 IAGP HPO OMIM:145500 NCBI chr 4:2,843,844...2,930,062
Ensembl chr 4:2,843,844...2,930,076
JBrowse link
G ADM adrenomedullin IAGP DNA:SNP: :rs7129220(human) RGD PMID:25313554 RGD:13513986 NCBI chr11:10,305,073...10,307,397
Ensembl chr11:10,305,073...10,307,397
JBrowse link
G ADRB2 adrenoceptor beta 2 IAGP DNA:polymorphisms: :pG16R, p.Q27E, p.T164I RGD PMID:16041242 RGD:1578728 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623
JBrowse link
G AGT angiotensinogen IAGP HPO OMIM:145500 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
JBrowse link
G AGTR1 angiotensin II receptor type 1 IAGP HPO OMIM:145500 NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008
JBrowse link
G AGXT2 alanine--glyoxylate aminotransferase 2 IAGP DNA:SNP, haplotype:exon:multiple (human)
DNA:SNP:cds:V140I (rs37369) (human)
RGD PMID:33879046 PMID:23023372 RGD:329961321, RGD:329961566 NCBI chr 5:34,998,102...35,047,949
Ensembl chr 5:34,998,101...35,048,135
JBrowse link
G ATP1B1 ATPase Na+/K+ transporting subunit beta 1 IAGP HPO OMIM:145500 NCBI chr 1:169,106,690...169,132,719
Ensembl chr 1:169,105,697...169,310,992
JBrowse link
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 IAGP DNA:SNP: :rs12258967(human) RGD PMID:25313554 RGD:13513986 NCBI chr10:18,140,424...18,543,557
Ensembl chr10:18,140,424...18,543,557
JBrowse link
G COMT catechol-O-methyltransferase treatment IAGP DNA:SNP:exon 4: p.V158M (rs4680)(human) RGD PMID:19023276 RGD:401959308 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
JBrowse link
G CORIN corin, serine peptidase IAGP HPO ORPHA:275555 NCBI chr 4:47,594,001...47,838,067
Ensembl chr 4:47,593,999...47,838,106
JBrowse link
G CYP3A5 cytochrome P450 family 3 subfamily A member 5 IAGP HPO OMIM:145500 NCBI chr 7:99,648,194...99,679,996
Ensembl chr 7:99,648,194...99,679,996
JBrowse link
G CYP4A11 cytochrome P450 family 4 subfamily A member 11 IAGP DNA:SNP: :8590T>C (human) RGD PMID:16144986 RGD:1625567 NCBI chr 1:46,929,188...46,941,476
Ensembl chr 1:46,929,177...46,941,484
JBrowse link
G ECE1 endothelin converting enzyme 1 IAGP HPO OMIM:145500 NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 IAGP HPO ORPHA:275555 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
JBrowse link
G GNB3 G protein subunit beta 3 sexual_dimorphism IAGP DNA:SNP:cds: 825C>T (human) HPO
RGD
PMID:11230982 OMIM:145500, RGD:1580408 NCBI chr12:6,840,925...6,847,393
Ensembl chr12:6,839,954...6,847,393
JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility IAGP DNA:deletion:cds: RGD PMID:19279659 RGD:7495846 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G GSTP1 glutathione S-transferase pi 1 susceptibility IAGP DNA:missense mutation:cds:p.I105V RGD PMID:11826024 RGD:737707 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
JBrowse link
G H19 H19 imprinted maternally expressed transcript susceptibility IAGP DNA:SNP: (rs4929984) (human) RGD PMID:31041585 RGD:158013770 NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,166...2,004,552
JBrowse link
G HNF1A HNF1 homeobox A IAGP RGD PMID:31825269 RGD:329901812 NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512
JBrowse link
G IL6 interleukin 6 IAGP associated with end stage renal disease; DNA:polymorphisms:promoter: -174G>C (human) RGD PMID:12846758 RGD:1580485 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G NOS3 nitric oxide synthase 3 IAGP HPO OMIM:145500 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G NPPA natriuretic peptide A susceptibility IAGP DNA:missense:exon:rs5063(human)
DNA:SNP, missense mutation:intron 2, CDS:1837G>A, 664G>A (p.V7M) (human)
RGD PMID:25452597 PMID:10525492 RGD:14696737, RGD:149735577 NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345
JBrowse link
G NPY neuropeptide Y IAGP DNA:missense mutation:cds:p.L7P (human) RGD PMID:11689216 RGD:1580177 NCBI chr 7:24,284,190...24,291,862
Ensembl chr 7:24,284,188...24,291,862
JBrowse link
G OPRD1 opioid receptor delta 1 treatment IAGP DNA:SNP:CDS:intron 1 (rs204047|rs797397) (human) RGD PMID:31907389 RGD:401976443 NCBI chr 1:28,812,170...28,871,267
Ensembl chr 1:28,812,170...28,871,267
JBrowse link
G PRLHR prolactin releasing hormone receptor IAGP DNA:SNP, missense mutation:promoter, cds:-62G>A, 914C>T (p.P305L) RGD PMID:14691196 RGD:1641832 NCBI chr10:118,589,997...118,595,648
Ensembl chr10:118,589,997...118,595,648
JBrowse link
G PTGIS prostaglandin I2 synthase IAGP HPO OMIM:145500 NCBI chr20:49,503,874...49,568,137
Ensembl chr20:49,503,874...49,568,137
JBrowse link
G RETN resistin IAGP DNA:SNP:3' utr:*62A>G (human)
DNA:SNP:promoter:-420C>G
RGD PMID:12629116 PMID:17598818 RGD:1624968, RGD:7207155 NCBI chr19:7,669,049...7,670,455
Ensembl chr19:7,669,049...7,670,455
JBrowse link
G RGS5 regulator of G protein signaling 5 IAGP HPO OMIM:145500 NCBI chr 1:163,142,299...163,321,735
Ensembl chr 1:163,111,121...163,321,791
JBrowse link
G STOX1 storkhead box 1 IAGP HPO ORPHA:275555 NCBI chr10:68,827,531...68,895,432
Ensembl chr10:68,827,531...68,895,432
JBrowse link
G VDR vitamin D receptor IAGP associated with Polycystic Ovary Syndrome;DNA:polymorphism: : rs731236(human) RGD PMID:24078159 RGD:13210783 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21568
    Phenotypic abnormality 21558
      Abnormality of the cardiovascular system 3985
        Abnormal cardiovascular system physiology 2258
          Abnormal systemic blood pressure 681
            Increased blood pressure 590
              Elevated diastolic blood pressure 32
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