Network variation - Cholesterol biosynthesis
|
| ENTRY | nt06034 |
| Name | Cholesterol biosynthesis |
| Category | Pathway view; Lipid/glycolipid metabolism |
| Pathway | hsa00900 Terpenoid backbone biosynthesis hsa00100 Steroid biosynthesis |
| Module | hsa_M00095 C5 isoprenoid biosynthesis, mevalonate pathway hsa_M00367 C10-C20 isoprenoid biosynthesis, non-plant eukaryotes hsa_M00101 Cholesterol biosynthesis, FPP => cholesterol hsa_M00103 Cholecalciferol biosynthesis |
| Display | drug-target relation disease type |
| Disease name | Disease category | ||
| MEVA/POROK3 | H00206 | Mevalonate kinase deficiency | Inherited metabolic disorder |
| H01933 | Porokeratosis | Congenital malformation | |
| POROK1 | H01933 | Porokeratosis | Congenital malformation |
| POROK7 | H01933 | Porokeratosis | Congenital malformation |
| POROK9 | H01933 | Porokeratosis | Congenital malformation |
| APMR4 | H02303 | Alopecia-mental retardation syndrome | Congenital malformation |
| GRBGD | H00447 | HEM skeletal dysplasia | Congenital malformation |
| MCCPD | H02132 | Microcephaly syndrome | Congenital malformation |
| CHILD/CKS | H00496 | Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) | Congenital malformation |
| H01917 | CK syndrome | Congenital malformation | |
| Desmosterolosis | H00617 | Desmosterolosis | Inherited metabolic disorder |
| CDPX2/MEND | H01194 | X-linked chondrodysplasia punctata | Congenital malformation |
| H02248 | MEND syndrome | Congenital malformation | |
| LATHOS | H01281 | Lathosterolosis | Inherited metabolic disorder |
| SLOS | H00161 | Smith-Lemli-Opitz syndrome | Inherited metabolic disorder |
| VDDR1B | H01143 | Vitamin D-dependent rickets | Inherited metabolic disorder |
| VDDR1A | H01143 | Vitamin D-dependent rickets | Inherited metabolic disorder |