×
Entrez Id:
950
Gene Symbol:
SCARB2
SCARB2
0.800
GeneticVariation
disease
CLINVAR
×
Entrez Id:
950
Gene Symbol:
SCARB2
SCARB2
0.800
Biomarker
disease
CTD_human
×
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:
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:
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
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 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
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
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
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
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
SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.
19847901
2009
×
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
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:
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:
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
×
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
Biomarker
disease
GENOMICS_ENGLAND
Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy.
21670406
2011