×
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:
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:
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
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
×
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:
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:
84823
Gene Symbol:
LMNB2
LMNB2
0.300
Biomarker
disease
CTD_human
×
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:
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:
56978
Gene Symbol:
PRDM8
PRDM8
0.300
Biomarker
disease
CTD_human
×
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
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:
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
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
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