Condition: Achromatopsia
rs761129859 in
ATF6 gene and
Achromatopsia
PMID 26029869 2015 Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.
rs150115958 in
CABP4 gene and
Achromatopsia
PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
rs104893621 in
CNGA3 gene and
Achromatopsia
PMID 21778272 2011 Photoreceptor structure and function in patients with congenital achromatopsia.
PMID 26992781 2016 Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands.
PMID 16961972 2006 Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia.
PMID 24903488 2014 Identification of CNGA3 mutations in 46 families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients.
PMID 11536077 2001 CNGA3 mutations in hereditary cone photoreceptor disorders.
PMID 25616768 2015 Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.
PMID 14757870 2004 Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.
PMID 15712225 2005 Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.
PMID 25943428 2015 Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.
PMID 17693388 2007 Functional analysis of rod monochromacy-associated missense mutations in the CNGA3 subunit of the cone photoreceptor cGMP-gated channel.
PMID 18445228 2008 Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C).
PMID 28341476 2017 Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.
PMID 23972307 2013 Diagnostic fundus autofluorescence patterns in achromatopsia.
PMID 20079539 2010 Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.
rs201320564 in
CNGB3 gene and
Achromatopsia
PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
PMID 28795510 2017 CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
PMID 15657609 2005 CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
PMID 10888875 2000 Genetic basis of total colourblindness among the Pingelapese islanders.
rs797045170 in
LOC102724329;ATF6 gene and
Achromatopsia
PMID 26029869 2015 Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.