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 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
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		0.800 Biomarker disease GENOMICS_ENGLAND Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review. 29605618 2018
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: 84823
Gene Symbol: LMNB2
LMNB2 		0.300 Biomarker disease CTD_human
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: 1822
Gene Symbol: ATN1
ATN1 		0.300 Biomarker disease CTD_human
Entrez Id: 7248
Gene Symbol: TSC1
TSC1 		0.300 Biomarker disease CTD_human The natural history and treatment of epilepsy in a murine model of tuberous sclerosis. 17484760 2007
Entrez Id: 10715
Gene Symbol: CERS1
CERS1 		0.300 Biomarker disease CTD_human
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: 9570
Gene Symbol: GOSR2
GOSR2 		0.300 Biomarker disease CTD_human
Entrez Id: 1106
Gene Symbol: CHD2
CHD2 		0.300 Biomarker disease CTD_human
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