PDE6B, phosphodiesterase 6B, 5158

N. diseases: 64; N. variants: 37
Disease: Night blindness, congenital stationary ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.720 GeneticVariation disease BEFREE Individuals with CSNB in the Rambusch pedigree were found to carry the H258N allele of PDE6B (MIM# 180072); a similar mutation was not found in RP patients. 17044014 2007
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.720 GeneticVariation disease BEFREE While the RHO and PDE6B mutations result in constitutively active proteins, the only known adCSNB-associated GNAT1 change (p.Gly38Asp) produces an alpha-transducin that is unable to activate its downstream effector molecule in vitro. 17584859 2007
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.720 Biomarker disease CTD_human Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. 8075643 1994
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.720 GermlineCausalMutation disease ORPHANET Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. 8075643 1994
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.720 Biomarker disease HPO
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.720 Biomarker disease GENOMICS_ENGLAND