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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:diastolic heart failure
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Accession:DOID:9775 term browser browse the term
Definition:Heart failure caused by abnormal myocardial relaxation during DIASTOLE leading to defective cardiac filling.
Synonyms:exact_synonym: Diastolic Heart Failures
 primary_id: MESH:D054144;   RDO:0007662
 xref: ICD10CM:I50.30;   ICD9CM:428.3
For additional species annotation, visit the Alliance of Genome Resources.


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diastolic heart failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme severity
susceptibility
treatment
ISO
IMP
DNS:insertion/deletion:intron: (rs1799752)
DNA:insertion/deletion:intron 16:
RGD PMID:19752885, PMID:19021695, PMID:14757777 RGD:40400704, RGD:40400906, RGD:40400723 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Adra1d adrenoceptor alpha 1D ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 3:124,129,558...124,145,566
Ensembl chr 3:124,129,558...124,145,566
JBrowse link
G Akip1 A-kinase interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 1:174,330,628...174,339,494
Ensembl chr 1:174,330,695...174,339,494
JBrowse link
G Alox15 arachidonate 15-lipoxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr10:56,953,692...56,962,145
Ensembl chr10:56,953,691...56,962,161
JBrowse link
G Ankrd23 ankyrin repeat domain 23 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 9:43,110,980...43,117,585
Ensembl chr 9:43,112,141...43,116,521
JBrowse link
G Apln apelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr  X:134,856,719...134,866,210
Ensembl chr  X:134,856,726...134,866,210
JBrowse link
G Cdc25b cell division cycle 25B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 3:123,731,539...123,741,696
Ensembl chr 3:123,731,539...123,741,339
JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr20:12,657,913...12,676,370
Ensembl chr20:12,658,065...12,675,561
JBrowse link
G Col8a1 collagen type VIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr11:44,877,690...45,006,203
Ensembl chr11:44,877,859...45,007,891
JBrowse link
G Creg1 cellular repressor of E1A-stimulated genes 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr13:83,972,186...83,984,675
Ensembl chr13:83,972,212...83,984,675
JBrowse link
G Cyrib CYFIP related Rac1 interactor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 7:104,514,566...104,641,875
Ensembl chr 7:104,516,391...104,556,419
JBrowse link
G Elk3 ETS transcription factor ELK3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 7:34,086,213...34,149,601
Ensembl chr 7:34,086,220...34,121,694
JBrowse link
G Epn3 epsin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr10:82,220,762...82,231,200
Ensembl chr10:82,220,762...82,229,140
JBrowse link
G Fhl1 four and a half LIM domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr  X:159,112,516...159,172,528
Ensembl chr  X:159,112,880...159,172,524
JBrowse link
G Fibin fin bud initiation factor homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 3:101,545,207...101,547,478
Ensembl chr 3:101,545,208...101,547,478
JBrowse link
G Fxyd3 FXYD domain-containing ion transport regulator 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 1:89,502,561...89,510,146
Ensembl chr 1:89,502,562...89,509,343
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
JBrowse link
G Kank2 KN motif and ankyrin repeat domains 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 8:22,792,000...22,821,459
Ensembl chr 8:22,791,995...22,821,397
JBrowse link
G Klf9 Kruppel-like factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 1:240,908,483...240,933,198
Ensembl chr 1:240,908,483...240,933,198
JBrowse link
G Ms4a6a membrane spanning 4-domains A6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 1:227,919,284...227,932,637
Ensembl chr 1:227,919,301...227,932,603
JBrowse link
G Myh6 myosin heavy chain 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
JBrowse link
G Myh7 myosin heavy chain 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705
JBrowse link
G Nupr1 nuclear protein 1, transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 1:194,767,484...194,769,519
Ensembl chr 1:194,767,474...194,769,524
JBrowse link
G Pik3ip1 phosphoinositide-3-kinase interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr14:83,559,397...83,572,481
Ensembl chr14:83,560,541...83,572,473
JBrowse link
G Plxnd1 plexin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 4:147,854,309...147,894,170
Ensembl chr 4:147,854,309...147,893,992
JBrowse link
G Ptp4a2 protein tyrosine phosphatase 4A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 5:148,035,501...148,060,752
Ensembl chr 5:148,051,126...148,060,339
JBrowse link
G Ptpn3 protein tyrosine phosphatase, non-receptor type 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 5:74,248,996...74,368,167
Ensembl chr 5:74,248,996...74,368,186
JBrowse link
G Sfrp1 secreted frizzled-related protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr16:73,372,007...73,410,777
Ensembl chr16:73,372,007...73,410,777
JBrowse link
G Sipa1l1 signal-induced proliferation-associated 1 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 6:106,052,212...106,163,249
Ensembl chr 6:106,039,991...106,163,302
JBrowse link
G Trdn triadin ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 1:25,403,390...25,787,664
Ensembl chr 1:25,403,390...25,839,345
JBrowse link
G Wdr45 WD repeat domain 45 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr  X:15,621,249...15,627,159
Ensembl chr  X:15,621,209...15,627,235
JBrowse link
G Zfp532 zinc finger protein 532 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr18:61,257,522...61,368,371
Ensembl chr18:61,258,911...61,368,371
JBrowse link

Term paths to the root
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Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      cardiovascular system disease 4413
        heart disease 2673
          congestive heart failure 384
            diastolic heart failure 34
paths to the root