PDE4D, phosphodiesterase 4D, 5144

N. diseases: 210; N. variants: 68
Disease: Dwarfism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 GeneticVariation disease BEFREE Acrodysostosis is an extremely rare disorder at birth, that is, characterized by skeletal dysplasia with short stature and midfacial hypoplasia, which has been reported to be caused by PDE4D and PRKAR1A gene mutations. 31520578 2019
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 Biomarker disease HPO