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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
 xref: EFO:1000899;   ICD10CM:I50.30;   ICD9CM:428.3


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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
treatment
susceptibility		 ISO
IMP		 DNS:insertion/deletion:intron: (rs1799752)
DNA:insertion/deletion:intron 16:		 RGD PMID:19752885 PMID:14757777 PMID:19021695 RGD:40400704, RGD:40400723, RGD:40400906 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Adra1d adrenoceptor alpha 1D ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 3:118,793,356...118,809,354
Ensembl chr 3:118,793,346...118,809,354 		JBrowse link
G Akip1 A-kinase interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 1:163,734,730...163,743,648
Ensembl chr 1:163,734,798...163,743,648 		JBrowse link
G Alox15 arachidonate 15-lipoxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874 		JBrowse link
G Ankrd23 ankyrin repeat domain 23 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 9:38,773,234...38,778,705
Ensembl chr 9:38,773,240...38,779,839 		JBrowse link
G Apln apelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr  X:127,180,801...127,213,567
Ensembl chr  X:127,203,823...127,213,391 		JBrowse link
G Cdc25b cell division cycle 25B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 3:118,407,127...118,417,272
Ensembl chr 3:118,407,128...118,417,272 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412 		JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597 		JBrowse link
G Col8a1 collagen type VIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr11:42,776,851...42,906,432
Ensembl chr11:42,777,628...42,906,424 		JBrowse link
G Creg1 cellular repressor of E1A-stimulated genes 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr13:78,019,814...78,032,310
Ensembl chr13:78,019,843...78,032,308 		JBrowse link
G Cyrib CYFIP related Rac1 interactor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 7:95,633,876...95,760,588
Ensembl chr 7:95,633,876...95,697,686 		JBrowse link
G Elk3 ETS transcription factor ELK3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 7:27,768,582...27,831,088
Ensembl chr 7:27,768,599...27,804,084 		JBrowse link
G Epn3 epsin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr10:79,438,978...79,449,516
Ensembl chr10:79,438,978...79,447,356 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr  X:134,555,399...134,614,930
Ensembl chr  X:134,555,479...134,614,928 		JBrowse link
G Fibin fin bud initiation factor homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 3:96,942,405...96,944,676
Ensembl chr 3:96,942,406...96,944,676 		JBrowse link
G Fxyd3 FXYD domain-containing ion transport regulator 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 1:86,305,531...86,312,455 JBrowse link
G Hamp hepcidin antimicrobial peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891 		JBrowse link
G Kank2 KN motif and ankyrin repeat domains 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 8:20,311,676...20,341,107
Ensembl chr 8:20,311,676...20,340,900 		JBrowse link
G Klf9 KLF transcription factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 1:220,700,108...220,725,110
Ensembl chr 1:220,700,108...220,725,037 		JBrowse link
G Lepr leptin receptor treatment IAGP RGD PMID:33568522 RGD:401965412 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
G Ms4a6a membrane spanning 4-domains A6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 1:208,401,465...208,414,831
Ensembl chr 1:208,401,466...208,414,758 		JBrowse link
G Myh6 myosin heavy chain 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Myh7 myosin heavy chain 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351 		JBrowse link
G Nupr1 nuclear protein 1, transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 1:181,213,292...181,215,327
Ensembl chr 1:181,213,368...181,215,281 		JBrowse link
G Pik3ip1 phosphoinositide-3-kinase interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr14:78,204,668...78,216,616
Ensembl chr14:78,204,053...78,216,608 		JBrowse link
G Plxnd1 plexin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 4:149,002,786...149,043,097
Ensembl chr 4:149,002,784...149,043,244 		JBrowse link
G Ptp4a2 protein tyrosine phosphatase 4A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 5:142,165,405...142,192,412
Ensembl chr 5:142,165,700...142,191,899 		JBrowse link
G Ptpn3 protein tyrosine phosphatase, non-receptor type 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 5:71,908,520...72,027,323
Ensembl chr 5:71,911,135...72,065,443 		JBrowse link
G Sfrp1 secreted frizzled-related protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr16:68,575,763...68,614,180
Ensembl chr16:68,575,763...68,614,286 		JBrowse link
G Sipa1l1 signal-induced proliferation-associated 1 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 6:101,839,351...102,118,408
Ensembl chr 6:101,839,404...102,116,950 		JBrowse link
G Trdn triadin ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 1:23,955,651...24,410,494
Ensembl chr 1:23,955,651...24,410,595 		JBrowse link
G Wdr45 WD repeat domain 45 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr  X:14,776,280...14,782,202
Ensembl chr  X:14,776,293...14,782,202 		JBrowse link
G Zfp532 zinc finger protein 532 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr18:59,080,082...59,203,672
Ensembl chr18:59,092,789...59,203,666 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      cardiovascular system disease 5412
        heart disease 3329
          congestive heart failure 581
            diastolic heart failure 36
paths to the root