SCARB2, scavenger receptor class B member 2, 950

N. diseases: 103; N. variants: 28
Disease: Action Myoclonus-Renal Failure Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909118
rs121909118
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C0751779
Disease:
Action Myoclonus-Renal Failure Syndrome 		A 0.700 CausalMutation CLINVAR Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy. 21670406 2011
dbSNP: rs121909118
rs121909118
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C0751779
Disease:
Action Myoclonus-Renal Failure Syndrome 		A 0.700 CausalMutation CLINVAR Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. 18308289 2008