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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02729 | Ain-Naz type of dysostosis multiplex | ... GlcNAc-1-phosphotransferase (GNPT) deficiency [DS:H00143]. It has been reported that mutations in LYSET/TMEM251 cause DMAN. Recently, LYSET has been discovered as a key regulator of the M6P pathway. LYSET ... | Congenital malformation | LYSET [HSA:26175] [KO:K26747] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |