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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H01967 | Anauxetic dysplasia | ... codes for an RNA subunit of the RNAse MRP complex are the cause of this disease. Recently, mutations in POP1 have been described in a few affected individuals. POP1 is a protein subunit of the MRP RNase complex | Congenital malformation |
(ANXD1) RMRP [HSA:6023] [KO:K14576] (ANXD2) POP1 [HSA:10940] [KO:K01164] (ANXD3) NEPRO [HSA:25871] [KO:K27075] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |