PDE3A, phosphodiesterase 3A, 5139

N. diseases: 58; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome
0.010 GeneticVariation disease BEFREE We suggest that the identified PDE3A mutations cause the syndrome. 25961942 2015