Condition: Night blindness, congenital stationary


rs61751398 in ABCA4 gene and Night blindness, congenital stationary PMID 12515255 2002 The ABCA4 gene in autosomal recessive cone-rod dystrophies.

rs122456134 in CACNA1F gene and Night blindness, congenital stationary PMID 9662399 1998 An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.

PMID 9662400 1998 Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.

PMID 11281458 2001 A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.

rs770066665 in GPR179 gene and Night blindness, congenital stationary PMID 22325362 2012 GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness.

PMID 22325361 2012 Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.

rs62638197 in GRM6 gene and Night blindness, congenital stationary PMID 16249515 2005 Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.

PMID 22008250 2012 A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene.

rs80338903 in USH2A gene and Night blindness, congenital stationary PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.