Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553920374
rs1553920374
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C4540199
Disease:
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		0.800 GeneticVariation UNIPROT Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders. 29432562 2018
dbSNP: rs1553923787
rs1553923787
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C4540199
Disease:
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		0.800 GeneticVariation UNIPROT Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders. 29432562 2018
dbSNP: rs1553925558
rs1553925558
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C4540199
Disease:
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		0.800 GeneticVariation UNIPROT Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders. 29432562 2018
dbSNP: rs1553920374
rs1553920374
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C4540199
Disease:
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		0.800 GeneticVariation UNIPROT De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. 28942967 2017
dbSNP: rs1553923787
rs1553923787
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C4540199
Disease:
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		0.800 GeneticVariation UNIPROT De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. 28942967 2017
dbSNP: rs1553925558
rs1553925558
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C4540199
Disease:
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		0.800 GeneticVariation UNIPROT De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. 28942967 2017
dbSNP: rs1553920374
rs1553920374
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C4540199
Disease:
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1553923787
rs1553923787
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C4540199
Disease:
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1553925558
rs1553925558
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C4540199
Disease:
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1553920376
rs1553920376
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C4540199
Disease:
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1553920379
rs1553920379
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C4540199
Disease:
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		AAAGT 0.700 CausalMutation CLINVAR
dbSNP: rs1553920383
rs1553920383
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C4540199
Disease:
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1560570541
rs1560570541
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C4540199
Disease:
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		TG 0.700 CausalMutation CLINVAR
dbSNP: rs199706529
rs199706529
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C4540199
Disease:
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		C 0.700 CausalMutation CLINVAR