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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:essential hypertension
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Accession:DOID:10825 term browser browse the term
Definition:A hypertension with no known cause. It is the most common type of hypertension. (DO)
Synonyms:exact_synonym: EHT;   idiopathic hypertension;   primary hypertension
 narrow_synonym: ESSENTIAL HYPERTENSION, GENETIC;   HYPERTENSION, ESSENTIAL, BODY MASS-RELATED;   HYPERTENSION, ESSENTIAL, KIDNEY FUNCTION-RELATED
 related_synonym: GNB3 POLYMORPHISM;   HYT1;   HYT2;   HYT3;   HYT4;   HYT5;   HYT6;   HYT7;   HYT8;   Hypertension, salt-sensitive essential, susceptibility to;   essential hypertension, susceptibility to;   essential hypertension, susceptibility to, 1;   essential hypertension, susceptibility to, 2;   essential hypertension, susceptibility to, 3;   essential hypertension, susceptibility to, 4;   essential hypertension, susceptibility to, 5;   essential hypertension, susceptibility to, 6;   essential hypertension, susceptibility to, 7;   essential hypertension, susceptibility to, 8
 primary_id: MESH:D000075222
 alt_id: OMIM:145500;   OMIM:603918;   OMIM:604329;   OMIM:607329;   OMIM:608742;   OMIM:610261;   OMIM:610262;   OMIM:610948;   OMIM:611014
 xref: EFO:1002032;   ICD10CM:I10;   ICD9CM:401;   MONDO:0001134;   NCI:C3478;   ORDO:243761
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
essential hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 More... NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182 		JBrowse link
G 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 More... NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Agtr1a angiotensin II receptor, type 1a treatment ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Essential hypertension | ClinVar Annotator: match by term: Essential hypertension, genetic | ClinVar Annotator: match by term: Hypertension, essential, susceptibility to		 OMIM
CTD
ClinVar
RGD		 PMID:8021009 PMID:9084931 PMID:15042429 PMID:25741868 PMID:28492532 More... RGD:10047396 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 susceptibility ISO DNA:polymorphism:exon:p.A724A (c.2171G>A)(human) RGD PMID:20687374 RGD:13507310 NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 More... NCBI chr 4:157,634,775...157,638,799
Ensembl chr 4:157,634,928...157,638,799 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 More... RGD:329845889 NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173 		JBrowse link
G Grk4 G protein-coupled receptor kinase 4 susceptibility ISO DNA:SNP,haplotypes:cds: RGD PMID:15097232 PMID:15097232 RGD:1598505, RGD:1598505 NCBI chr14:75,998,554...76,080,808
Ensembl chr14:76,006,218...76,080,693 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
G Ptgis prostaglandin I2 synthase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Essential hypertension		 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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    disease of anatomical entity 18162
      cardiovascular system disease 5367
        vascular disease 3976
          artery disease 2792
            hypertension 1708
              essential hypertension 50
                benign essential hypertension 0
                malignant essential hypertension 0
paths to the root