Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10641
Gene Symbol: NPRL2
NPRL2 		0.600 Biomarker disease GENOMICS_ENGLAND The landscape of epilepsy-related GATOR1 variants. 30093711 2019
Entrez Id: 10641
Gene Symbol: NPRL2
NPRL2 		0.600 GeneticVariation disease UNIPROT Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. 26505888 2016
Entrez Id: 10641
Gene Symbol: NPRL2
NPRL2 		0.600 GeneticVariation disease UNIPROT Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia. 27173016 2016
Entrez Id: 10641
Gene Symbol: NPRL2
NPRL2 		0.600 CausalMutation disease CLINVAR
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 26206
Gene Symbol: SPAG8
SPAG8 		0.100 GeneticVariation disease CLINVAR