SCARB2, scavenger receptor class B member 2, 950

N. diseases: 103; N. variants: 28
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs758857853
rs758857853
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C0751779
Disease:
Action Myoclonus-Renal Failure Syndrome 		0.810 GeneticVariation UNIPROT Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy. 21670406 2011
dbSNP: rs758857853
rs758857853
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C0751779
Disease:
Action Myoclonus-Renal Failure Syndrome 		0.810 GeneticVariation BEFREE In contrast to the reduced binding properties of the nonsense mutations, the only missense mutation (H363N) found in AMRF leads to increased binding of beta-GC to LIMP-2, indicating that this highly conserved histidine modifies the affinity of LIMP-2 to its ligand. 19933215 2010
dbSNP: rs758857853
rs758857853
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C0751779
Disease:
Action Myoclonus-Renal Failure Syndrome 		T 0.810 CausalMutation CLINVAR Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme. 19454373 2009
dbSNP: rs758857853
rs758857853
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C0751779
Disease:
Action Myoclonus-Renal Failure Syndrome 		0.810 GeneticVariation UNIPROT Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme. 19454373 2009
dbSNP: rs758857853
rs758857853
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C0751779
Disease:
Action Myoclonus-Renal Failure Syndrome 		0.810 GeneticVariation UNIPROT Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. 18308289 2008
dbSNP: rs758857853
rs758857853
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C0751779
Disease:
Action Myoclonus-Renal Failure Syndrome 		0.810 GeneticVariation UNIPROT A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome. 18424452 2008
dbSNP: rs17001561
rs17001561
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C1305855
Disease:
Body mass index 		A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs17001654
rs17001654
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C1305855
Disease:
Body mass index 		C 0.700 GeneticVariation GWASCAT A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci. 30108127 2018
dbSNP: rs368906199
rs368906199
Entrez Id: 950;100129583
Gene Symbol: SCARB2;FAM47E
SCARB2;FAM47E
CUI: C0376532
Disease:
Epilepsy, Rolandic 		T 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611 2018
dbSNP: rs17001654
rs17001654
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C1305855
Disease:
Body mass index 		C 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. 28443625 2017
dbSNP: rs17001654
rs17001654
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C0037369
Disease:
Smoking 		C 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. 28443625 2017
dbSNP: rs17001654
rs17001654
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C1305855
Disease:
Body mass index 		G 0.700 GeneticVariation GWASCAT Genetic studies of body mass index yield new insights for obesity biology. 25673413 2015
dbSNP: rs17001654
rs17001654
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C1305855
Disease:
Body mass index 		C 0.700 GeneticVariation GWASCAT The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. 26426971 2015
dbSNP: rs200053119
rs200053119
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C0751779
Disease:
Action Myoclonus-Renal Failure Syndrome 		A 0.700 CausalMutation CLINVAR Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations. 23659519 2014
dbSNP: rs200053119
rs200053119
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C0751778
Disease:
Myoclonic Epilepsies, Progressive 		A 0.700 CausalMutation CLINVAR Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations. 23659519 2014
dbSNP: rs886041076
rs886041076
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C0751779
Disease:
Action Myoclonus-Renal Failure Syndrome 		T 0.700 CausalMutation CLINVAR A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure. 24339182 2014
dbSNP: rs886041078
rs886041078
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C0751779
Disease:
Action Myoclonus-Renal Failure Syndrome 		A 0.700 CausalMutation CLINVAR Using a combination of whole-exome sequencing and homozygosity mapping to identify a novel mutation of SCARB2. 24620919 2014
dbSNP: rs886041078
rs886041078
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C0751779
Disease:
Action Myoclonus-Renal Failure Syndrome 		A 0.700 CausalMutation CLINVAR A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity. 24485911 2014
dbSNP: rs886041079
rs886041079
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C0751779
Disease:
Action Myoclonus-Renal Failure Syndrome 		GGTGCATGCAT 0.700 CausalMutation CLINVAR Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations. 23659519 2014
dbSNP: rs886041079
rs886041079
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C0751779
Disease:
Action Myoclonus-Renal Failure Syndrome 		GGTGCATGCAT 0.700 CausalMutation CLINVAR A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy. 23325613 2013
dbSNP: rs886041076
rs886041076
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C0751779
Disease:
Action Myoclonus-Renal Failure Syndrome 		T 0.700 CausalMutation CLINVAR A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2. 22767442 2012
dbSNP: rs886041077
rs886041077
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C0751779
Disease:
Action Myoclonus-Renal Failure Syndrome 		GA 0.700 CausalMutation CLINVAR A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure. 23225201 2012
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: rs727502783
rs727502783
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C0751779
Disease:
Action Myoclonus-Renal Failure Syndrome 		TA 0.700 CausalMutation CLINVAR Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy. 21670406 2011
dbSNP: rs755903502
rs755903502
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C0751779
Disease:
Action Myoclonus-Renal Failure Syndrome 		C 0.700 CausalMutation CLINVAR A mutation in SCARB2 is a modifier in Gaucher disease. 21796727 2011