Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		0.800 CausalMutation disease 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 		0.800 CausalMutation disease 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 		0.800 GeneticVariation disease UNIPROT Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy. 21670406 2011
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		0.800 GeneticVariation disease BEFREE Our patients with SCARB2 mutations showed the clinical and neurophysiologic phenotype of PME, in which epilepsy could be extremely severe, extending the spectrum reported in the typical AMRF syndrome. 22050460 2011
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		0.800 Biomarker disease BEFREE SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome. 27582254 2016
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		0.800 GeneticVariation disease BEFREE We describe clinically two sisters with AMRF that resulted from a mutation in the SCARB2 gene. 21782476 2011
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		0.800 CausalMutation disease 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 		0.800 GeneticVariation disease UNIPROT 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 		0.800 CausalMutation disease 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 		0.800 CausalMutation disease CLINVAR A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure. 23225201 2012
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		0.800 CausalMutation disease CLINVAR A mutation in SCARB2 is a modifier in Gaucher disease. 21796727 2011
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		0.800 GeneticVariation disease BEFREE Action myoclonus renal failure (AMRF) syndrome is a rare form of progressive myoclonus epilepsy with renal dysfunction related to mutations in the SCARB2 gene. 24485911 2014
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		0.800 Biomarker disease GENOMICS_ENGLAND Progressive myoclonus epilepsy with demyelinating peripheral neuropathy and preserved intellect: a novel syndrome. 19597094 2009
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		0.800 CausalMutation disease 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 		0.800 Biomarker disease GENOMICS_ENGLAND Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy. 21670406 2011
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		0.800 GeneticVariation disease UNIPROT 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 		0.800 GeneticVariation disease 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
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		0.800 GeneticVariation disease BEFREE Mutations in the SCARB2 gene cause a rare autosomal recessive disease, progressive myoclonus epilepsy (PME) with or without renal failure, the former also being designated action myoclonus-renal failure syndrome. 23659519 2014
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		0.800 Biomarker disease CTD_human
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		0.800 CausalMutation disease CLINVAR A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity. 24485911 2014
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		0.800 CausalMutation disease CLINVAR A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy. 23325613 2013
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		0.800 CausalMutation disease 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 		0.800 GeneticVariation disease BEFREE 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 		0.800 GeneticVariation disease UNIPROT 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 		0.800 CausalMutation disease CLINVAR A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure. 24339182 2014