PDE3A, phosphodiesterase 3A, 5139

N. diseases: 6; N. variants: 23
Disease: Brachydactyly with hypertension ×
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