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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H02760 | BDV syndrome | ... abnormal glucose homeostasis and hypogonadotrophic hypogonadism. It has been reported that mutations in CPE cause this syndrome. CPE encodes carboxypeptidase E, an enzyme that converts proneuropeptides and ... | Inherited metabolic disorder | CPE [HSA:1363] [KO:K01294] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |