Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		0.800 CausalMutation CLINVAR Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations. 23659519

2014
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		0.800 CausalMutation CLINVAR A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity. 24485911

2014
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		0.800 CausalMutation CLINVAR Using a combination of whole-exome sequencing and homozygosity mapping to identify a novel mutation of SCARB2. 24620919

2014
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		0.800 CausalMutation CLINVAR A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure. 24339182

2014
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		0.800 CausalMutation CLINVAR A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy. 23325613

2013
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		0.800 CausalMutation CLINVAR A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2. 22767442

2012
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		0.800 CausalMutation CLINVAR A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure. 23225201

2012
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		0.800 CausalMutation CLINVAR Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy. 21670406

2011
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		0.800 CausalMutation CLINVAR To test the hypothesis whether isolated appearance of individual AMRF syndrome features could be related to heterozygote SCARB2 mutations, we screened for SCARB2 mutations in unrelated patients showing isolated AMRF features. 22032306

2011
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		0.800 CausalMutation CLINVAR A mutation in SCARB2 is a modifier in Gaucher disease. 21796727

2011
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		0.800 CausalMutation CLINVAR SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure. 19847901

2009
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		0.800 CausalMutation CLINVAR Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme. 19454373

2009
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		0.800 CausalMutation CLINVAR A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome. 18424452

2008
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		0.800 CausalMutation CLINVAR Mutations in SCARB2/Limp2 were found in all three families used for mapping and subsequently confirmed in two other unrelated AMRF families. 18308289

2008
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		0.800 GeneticVariation CLINVAR