PDE6B, phosphodiesterase 6B, 5158

N. diseases: 64; N. variants: 37
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848172
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A 		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