Disease: Achromatopsia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 GermlineCausalMutation disease ORPHANET
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 GeneticVariation disease CLINVAR
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 Biomarker disease HPO
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 Biomarker disease BEFREE Two independent frameshift deletions establish that achromatopsia is the null phenotype of CNGB3. 10888875 2000
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 CausalMutation disease CLINVAR Genetic basis of total colourblindness among the Pingelapese islanders. 10888875 2000
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 GeneticVariation disease BEFREE Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. 10958649 2000
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 GeneticVariation disease BEFREE Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3. 12140185 2002
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 GeneticVariation disease BEFREE Complete achromatopsia is genetically heterogeneous and segregates with mutations in CNGA3 or CNGB3 genes, which respectively encode for alpha- and beta-subunits of the cyclic-nucleotide-gated (CNG) cation channel expressed in cone photoreceptors. 12357335 2002
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 GeneticVariation disease BEFREE Recently, mutations in the gene encoding the CNGB3 subunit have been linked to achromatopsia in humans. 12815043 2003
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 GeneticVariation disease BEFREE Mutations in the genes encoding the CNGA3 and CNGB3 subunits of the cyclic nucleotide-gated (CNG) channel of cone photoreceptors have been associated with autosomal recessive achromatopsia. 14715947 2004
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 GeneticVariation disease BEFREE Mutation analysis revealed her to be homozygous for the common CNGB3 achromatopsia mutation, 1148delC (Thr383fs). 15161866 2004
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 CausalMutation disease CLINVAR CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. 15657609 2005
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 GeneticVariation disease BEFREE In conclusion, mutations in the CNGB3 gene are responsible for approximately 50% of all patients with achromatopsia. 15657609 2005
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 GeneticVariation disease BEFREE Unrelated patients with achromatopsia, macular degeneration with onset under age 50 years, cone degeneration or dysfunction, cone-rod degeneration, or macular malfunction were screened for mutations in the three genes known to be associated with achromatopsia: the GNAT2 gene encoding the alpha subunit of cone transducin and the CNGA3 and CNGB3 genes encoding the alpha and beta subunits of the cone cGMP-gated cation channel. 15712225 2005
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 GeneticVariation disease BEFREE The patients presented with a clinical picture typical for congenital achromatopsia and there was no significant difference in the phenotype of subjects with either CNGA3 or CNGB3 mutations based on standard ophthalmological examination. 16319819 2005
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 GeneticVariation disease BEFREE Furthermore, the CNGB3 mutation p.T383fsX is a predominant mutation, results from a founder effect, and is responsible for the ACHM in the original clinical report of UPD 14. 17265047 2007
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 GeneticVariation disease BEFREE CNGB3 mutations cause a channelopathy that results in impaired cone function manifesting achromatopsia. 17652762 2007
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 GeneticVariation disease BEFREE Mutations in both subunits are associated with achromatopsia and progressive cone dystrophy, with mutations in CNGB3 alone accounting for 50% of all known cases of achromatopsia. 19767295 2009
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 Biomarker disease BEFREE Mutations in the cone channel subunits CNGA3 and CNGB3 are linked to achromatopsia and progressive cone dystrophy in humans. 20238023 2010
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 GeneticVariation disease BEFREE Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia. 20454696 2010
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 Biomarker disease BEFREE Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy. 21576125 2011
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 Biomarker disease BEFREE Transient photoreceptor deconstruction by CNTF enhances rAAV-mediated cone functional rescue in late stage CNGB3-achromatopsia. 23568263 2013
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 GeneticVariation disease BEFREE Genetic testing performed at Carver lab at the University of Iowa confirmed a diagnosis of achromatopsia with identical mutations in the CNGB3 gene. 24664743 2014
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 GeneticVariation disease BEFREE Genetic testing revealed a common homozygous mutation in CNGB3 in 5 patients with complete achromatopsia and heterozygous mutations in CNGA3 in 2 patients with incomplete achromatopsia. 24676353 2014