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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H00927 |
Chylomicron retention disease Anderson disease |
... mental retardation, abnormal vibration sense, and hyporeflexia. CRD is caused by a mutation in the SAR1B gene, which codes for an essential component of the vesicular coat protein complex II (COPII) necessary ... | Inherited metabolic disorder | SAR1B [HSA:51128] [KO:K07953] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |