Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4166
Gene Symbol: CHST6
CHST6
0.130 GeneticVariation disease BEFREE Finally, molecular analysis of CHST6 in a patient with macular CD disclosed the presence of a homozygous p.Y110C change. 24801599 2014
Entrez Id: 4166
Gene Symbol: CHST6
CHST6
0.130 GeneticVariation disease BEFREE Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies. 21887843 2011
Entrez Id: 4166
Gene Symbol: CHST6
CHST6
0.130 GeneticVariation disease BEFREE A phenotypically unusual variant of MCDC1 was found to be associated with the novel Leu173Pro mutation in CHST6, transmitted via uniparental isodisomy, a previously unreported pattern of inheritance in the corneal dystrophies. 17896316 2007
Entrez Id: 4166
Gene Symbol: CHST6
CHST6
0.130 Biomarker disease HPO