Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2 		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: 10715
Gene Symbol: CERS1
CERS1 		0.300 Biomarker disease CTD_human
Entrez Id: 1106
Gene Symbol: CHD2
CHD2 		0.300 Biomarker disease CTD_human
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: 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: 2629
Gene Symbol: GBA
GBA 		0.010 GeneticVariation disease BEFREE With the present study, we demonstrate that disruption of the coiled-coil structure or AMRF disease-causing mutations abolish beta-GC binding, indicating the importance of an intact coiled-coil structure for the interaction of LIMP-2 and beta-GC. 19933215 2010
Entrez Id: 2630
Gene Symbol: GBAP1
GBAP1 		0.010 GeneticVariation disease BEFREE With the present study, we demonstrate that disruption of the coiled-coil structure or AMRF disease-causing mutations abolish beta-GC binding, indicating the importance of an intact coiled-coil structure for the interaction of LIMP-2 and beta-GC. 19933215 2010
Entrez Id: 9570
Gene Symbol: GOSR2
GOSR2 		0.300 Biomarker disease CTD_human
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: 84823
Gene Symbol: LMNB2
LMNB2 		0.300 Biomarker disease CTD_human
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
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: 56978
Gene Symbol: PRDM8
PRDM8 		0.300 Biomarker disease CTD_human
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: 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: 950
Gene Symbol: SCARB2
SCARB2 		0.800 CausalMutation disease CLINVAR SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure. 19847901 2009
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		0.800 GeneticVariation disease CLINVAR
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		0.800 GeneticVariation disease BEFREE Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features. 22032306 2011
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		0.800 Biomarker disease BEFREE A literature review revealed that mutations in the different functional domains of SCARB2 appear to be associated with the phenotype of EPM4. 29941711 2018
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		0.800 GeneticVariation disease BEFREE Mutations in SCARB2 were recently described as causing action myoclonus renal failure syndrome (AMRF). 19847901 2009
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		0.800 CausalMutation disease 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 		0.800 Biomarker disease BEFREE In humans, LIMP-2 deficiency leads to action myoclonus-renal failure (AMRF) syndrome. 26018676 2015
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		0.800 Biomarker disease GENOMICS_ENGLAND 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 Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy. 21670406 2011