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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] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |