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 Biomarker disease CTD_human
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 CausalMutation disease CLINVAR Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene. 11017086 2000
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 Biomarker disease BEFREE The genetic status of CHST6 was determined for all members of these MCD families. 15652851 2005
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 Biomarker disease BEFREE These findings fit the haplotype analysis that we reported previously and indicate that the predicted protein that is encoded by CHST6 is more severely affected in the individual with MCD type I than in the siblings with MCD type II. 15953452 2005
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 GeneticVariation disease UNIPROT Enzymatic synthesis in vitro of the disulfated disaccharide unit of corneal keratan sulfate. 12218059 2002
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 GeneticVariation disease BEFREE A homozygous p.A128V mutation in the coding region of the CHST6 gene was identified in four of the five MCD type I cases. 17093400 2006
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 GeneticVariation disease BEFREE We screened the CHST6 gene for mutations in Indian families with MCD, in order to determine the range of pathogenic mutations. 14735064 2003
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 GeneticVariation disease UNIPROT A variety of previously unreported mutations in the coding region of the CHST6 gene are associated with type I MCD in a cohort of patients in southern India. 14609920 2003
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 GeneticVariation disease UNIPROT We screened the CHST6 gene for mutations in Indian families with MCD, in order to determine the range of pathogenic mutations. 14735064 2003
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 Biomarker disease GENOMICS_ENGLAND Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene. 11017086 2000
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 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 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 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 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 GeneticVariation disease BEFREE The purpose of this study was to identify mutations in CHST6 in Japanese patients with MCD and evaluate them by means of immunohistochemistry. 12882769 2003
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 CausalMutation disease CLINVAR Mutation screening of the CHST6 gene has been undertaken to identify the underlying mutations in five unrelated British families with MCD. 11818380 2002
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 Biomarker disease GENOMICS_ENGLAND
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 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 CausalMutation disease CLINVAR Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy. 15013869 2004
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 CausalMutation disease CLINVAR The genetic status of CHST6 was determined for all members of these MCD families. 15652851 2005
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 CHST6 suggests that MCD may result from other subtle changes in CHST6 or from genetic heterogeneity. 16568029 2006