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 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 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 CausalMutation disease CLINVAR A mutation in SCARB2 is a modifier in Gaucher disease. 21796727 2011
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 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 novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy. 23325613 2013
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 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 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 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 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 CausalMutation disease CLINVAR A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure. 24339182 2014
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		0.800 Biomarker disease BEFREE In humans, LIMP-2 deficiency leads to action myoclonus-renal failure (AMRF) syndrome. 26018676 2015
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24 		0.300 Biomarker disease CTD_human A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 25401298 2015
Entrez Id: 378884
Gene Symbol: NHLRC1
NHLRC1 		0.300 Biomarker disease CTD_human A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 25401298 2015
Entrez Id: 54982
Gene Symbol: CLN6
CLN6 		0.300 Biomarker disease CTD_human A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 25401298 2015
Entrez Id: 26278
Gene Symbol: SACS
SACS 		0.300 Biomarker disease CTD_human A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 25401298 2015
Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A 		0.300 Biomarker disease CTD_human A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 25401298 2015
Entrez Id: 3746
Gene Symbol: KCNC1
KCNC1 		0.300 Biomarker disease CTD_human A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 25401298 2015
Entrez Id: 5621
Gene Symbol: PRNP
PRNP 		0.300 Biomarker disease CTD_human A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 25401298 2015
Entrez Id: 5274
Gene Symbol: SERPINI1
SERPINI1 		0.300 Biomarker disease CTD_human A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 25401298 2015
Entrez Id: 4758
Gene Symbol: NEU1
NEU1 		0.300 Biomarker disease CTD_human A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 25401298 2015