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Entry | Name | Description | Category | Pathway | Gene |
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H02595 | Oculoskeletodental syndrome | ... growth, and occasionally hearing impairments. It has been reported that loss-of-function mutations in PIK3C2A cause this syndrome. PIK3C2A is a class II member of the phosphoinositide 3-kinase family of ... | Congenital malformation | PIK3C2A [HSA:5286] [KO:K00923] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |