PDE6D, phosphodiesterase 6D, 5147

N. diseases: 79; N. variants: 3
Disease: Familial aplasia of the vermis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.120 Biomarker disease BEFREE A review of the literature pertaining to the role of PDE6D in JS is discussed. 30423442 2019
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.120 Biomarker disease BEFREE This study identifies PDE6D as a novel JS disease gene and provides the first evidence of prenyl-binding-dependent trafficking in ciliopathies. 24166846 2014
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.120 GeneticVariation disease CLINVAR