PDE3A, phosphodiesterase 3A, 5139

N. diseases: 6; N. variants: 23
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1862170
Disease: Brachydactyly with hypertension
Brachydactyly with hypertension 		0.770 Biomarker disease CTD_human PDE3A mutations cause autosomal dominant hypertension with brachydactyly. 25961942 2015
CUI: C1862170
Disease: Brachydactyly with hypertension
Brachydactyly with hypertension 		0.770 GermlineCausalMutation disease ORPHANET PDE3A mutations cause autosomal dominant hypertension with brachydactyly. 25961942 2015
CUI: C1862170
Disease: Brachydactyly with hypertension
Brachydactyly with hypertension 		0.770 GeneticVariation disease UNIPROT PDE3A mutations cause autosomal dominant hypertension with brachydactyly. 25961942 2015
CUI: C1862170
Disease: Brachydactyly with hypertension
Brachydactyly with hypertension 		0.770 Biomarker disease GENOMICS_ENGLAND PDE3A mutations cause autosomal dominant hypertension with brachydactyly. 25961942 2015
CUI: C1862170
Disease: Brachydactyly with hypertension
Brachydactyly with hypertension 		0.770 Biomarker disease GENOMICS_ENGLAND Families with autosomal dominant brachydactyly type E, short stature, and severe hypertension. 9696728 1998
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.400 Biomarker group CTD_human Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes. 29531354 2018
CUI: C0751956
Disease: Acute Cerebrovascular Accidents
Acute Cerebrovascular Accidents 		0.300 Biomarker disease CTD_human Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes. 29531354 2018
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.300 Biomarker disease CTD_human These data suggest that there is a phosphodiesterase 3A-ICER positive-feedback loop leading to myocyte apoptosis and ongoing development of heart failure after myocardial infarction. 19027736 2009
CUI: C0040053
Disease: Thrombosis
Thrombosis 		0.300 Biomarker phenotype CTD_human In vivo, PDE3A KO mice were protected against collagen/epinephrine-induced pulmonary thrombosis and death, while no such protection was observed in PDE3B KO mice. 17482796 2007
CUI: C0087086
Disease: Thrombus
Thrombus 		0.300 Biomarker phenotype CTD_human Role of phosphodiesterase type 3A and 3B in regulating platelet and cardiac function using subtype-selective knockout mice. 17482796 2007