Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
0.600 GeneticVariation disease UNIPROT Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders. 29432562 2018
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
0.600 Biomarker disease GENOMICS_ENGLAND Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders. 29432562 2018
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
0.600 Biomarker disease GENOMICS_ENGLAND De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. 28942967 2017
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
0.600 GeneticVariation disease UNIPROT De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. 28942967 2017
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
0.600 CausalMutation disease CLINVAR
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
0.600 GeneticVariation disease CLINVAR