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Entry Name Description Category Pathway Gene
H00954 Macular corneal dystrophy
Corneal dystrophy Groenouw type II
Fehr corneal dystrophy
... results in the accumulation of glycosaminoglycans that form the abnormal deposits. Mutations in the CHST6 gene, which encodes an enzyme that catalyzes the sulfation of keratan sulfate, are responsible ... Nervous system disease CHST6 [HSA:4166] [KO:K09671]
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