Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 GeneticVariation disease BEFREE The current study highlighted the demand of further functional investigations to evaluate the causality of CHST6 variants, so as to promote earlier accurate diagnosis of MCD and future development of potential targets for genetic therapy. 30716718 2019
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 GeneticVariation disease BEFREE We identified a novel E71Q mutation in CHST6 as the MCD-causal mutation in a black South African family with type I MCD. 27439461 2016
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 GeneticVariation disease BEFREE The novel CHST6 mutation shows the heterogeneity of MCD. 27755187 2016
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 GeneticVariation disease UNIPROT Three novel and six previously reported disease-causing CHST6 mutations were identified, which expands the mutational spectrum of MCD. 26604660 2015
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 CausalMutation disease CLINVAR Three novel and six previously reported disease-causing CHST6 mutations were identified, which expands the mutational spectrum of MCD. 26604660 2015
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 GeneticVariation disease BEFREE Three novel and six previously reported disease-causing CHST6 mutations were identified, which expands the mutational spectrum of MCD. 26604660 2015
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 CausalMutation disease CLINVAR Macular corneal dystrophy and associated corneal thinning. 25081284 2014
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 CausalMutation disease CLINVAR Phenotype and genotype analysis in patients with macular corneal dystrophy. 24926691 2014
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 GeneticVariation disease UNIPROT A case of Korean patient with macular corneal dystrophy associated with novel mutation in the CHST6 gene. 24311932 2013
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 Biomarker disease BEFREE All cases could not be explained by mutations in CHST6, suggesting that MCD may result from other changes in the regulatory elements of CHST6 or from genetic heterogeneity. 22261655 2012
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 GeneticVariation disease UNIPROT A novel p.Pro186Arg mutation in CHST6 is associated with MCD type II in an African American. 21242781 2011
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 GeneticVariation disease BEFREE A novel p.Pro186Arg mutation in CHST6 is associated with MCD type II in an African American. 21242781 2011
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 CausalMutation disease CLINVAR Mutation analysis of CHST6 gene in Chinese patients with macular corneal dystrophy. 20539220 2010
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 GeneticVariation disease BEFREE Six homozygous mutations, of which three are novel, were identified within the coding region of CHST6 in six unrelated MCD families. 19734134 2010
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 GeneticVariation disease BEFREE CHST6 mutations may be responsible for the pathogenesis of MCD in Chinese patients. 20539220 2010
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 GeneticVariation disease BEFREE Moreover, the observation that some cases of MCD cannot be explained by mutations in the coding region of CHST6 suggests that MCD may result from possible upstream rearrangements in the CHST6 genomic region. 19223992 2009
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 GermlineCausalMutation disease ORPHANET To identify mutations in the carbohydrate sulfotransferase gene (CHST6) for a Chinese family with macular corneal dystrophy (MCD) and to investigate the histopathological changes in the affected cornea. 19365571 2009
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 CausalMutation disease CLINVAR To identify mutations in the carbohydrate sulfotransferase gene (CHST6) for a Chinese family with macular corneal dystrophy (MCD) and to investigate the histopathological changes in the affected cornea. 19365571 2009
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 GeneticVariation disease BEFREE Sixty-four patients from 53 families with MCD that were previously screened for mutations in CHST6 were included in an immunophenotype analysis. 19204788 2009
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 GeneticVariation disease UNIPROT To identify mutations in the carbohydrate sulfotransferase gene (CHST6) for a Chinese family with macular corneal dystrophy (MCD) and to investigate the histopathological changes in the affected cornea. 19365571 2009
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 GeneticVariation disease BEFREE To identify mutations in the carbohydrate sulfotransferase gene (CHST6) for a Chinese family with macular corneal dystrophy (MCD) and to investigate the histopathological changes in the affected cornea. 19365571 2009
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 CausalMutation disease CLINVAR Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options. 18500531 2008
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 GeneticVariation disease BEFREE The coding region of the CHST6 gene was directly sequenced in 10 affected and five unaffected members from eight apparently unrelated MCD families. 17962390 2008
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 CausalMutation disease CLINVAR Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation. 17962390 2008