PDE6B, phosphodiesterase 6B, 5158

N. diseases: 64; N. variants: 37
Disease: Cone-rod synaptic disorder, congenital nonprogressive ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4041558
Disease: Cone-rod synaptic disorder, congenital nonprogressive
Cone-rod synaptic disorder, congenital nonprogressive 		0.300 Biomarker disease CTD_human Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. 8075643 1994