NPRL2, NPR2 like, GATOR1 complex subunit, 10641

N. diseases: 45; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886037965
rs886037965
Entrez Id: 10641;11068
Gene Symbol: NPRL2;CYB561D2
NPRL2;CYB561D2
CUI: C4310709
Disease:
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2 		0.800 GeneticVariation UNIPROT Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia. 27173016 2016
dbSNP: rs886037965
rs886037965
Entrez Id: 10641;11068
Gene Symbol: NPRL2;CYB561D2
NPRL2;CYB561D2
CUI: C4310709
Disease:
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2 		0.800 GeneticVariation UNIPROT Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. 26505888 2016
dbSNP: rs886037965
rs886037965
Entrez Id: 10641;11068
Gene Symbol: NPRL2;CYB561D2
NPRL2;CYB561D2
CUI: C4310709
Disease:
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2 		G 0.800 CausalMutation CLINVAR
dbSNP: rs149128231
rs149128231
Entrez Id: 10641;11068
Gene Symbol: NPRL2;CYB561D2
NPRL2;CYB561D2
CUI: C4310709
Disease:
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2 		0.700 GeneticVariation UNIPROT Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia. 27173016 2016
dbSNP: rs149128231
rs149128231
Entrez Id: 10641;11068
Gene Symbol: NPRL2;CYB561D2
NPRL2;CYB561D2
CUI: C4310709
Disease:
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2 		0.700 GeneticVariation UNIPROT Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. 26505888 2016
dbSNP: rs745518585
rs745518585
Entrez Id: 10641;11068
Gene Symbol: NPRL2;CYB561D2
NPRL2;CYB561D2
CUI: C4310709
Disease:
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2 		0.700 GeneticVariation UNIPROT
dbSNP: rs886037963
rs886037963
Entrez Id: 10641;11068
Gene Symbol: NPRL2;CYB561D2
NPRL2;CYB561D2
CUI: C4310709
Disease:
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs886037964
rs886037964
Entrez Id: 10641
Gene Symbol: NPRL2
NPRL2
CUI: C4310709
Disease:
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs886037966
rs886037966
Entrez Id: 10641;11068
Gene Symbol: NPRL2;CYB561D2
NPRL2;CYB561D2
CUI: C4310709
Disease:
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2 		T 0.700 CausalMutation CLINVAR