Search Result |
Top |
| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00207 | Rhizomelic chondrodysplasia punctata | ... 7(PEX7) genes. RCDP2 and RCDP3 are single peroxisomal enzyme deficiencies caused by mutation of GNPAT and AGPS. Both of them are key enzymes in the biosynthesis of ether phospholipids localized in peroxisomes | Inherited metabolic disorder, Peroxisomal disease |
(RCDP1) PEX7 [HSA:5191] [KO:K13341] (RCDP2) GNPAT [HSA:8443] [KO:K00649] (RCDP3) AGPS [HSA:8540] [KO:K00803] (RCDP4) FAR1 [HSA:84188] [KO:K13356] (RCDP5) PEX5 [HSA:5830] [KO:K13342] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |