Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886037945
rs886037945
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		0.800 GeneticVariation UNIPROT Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy. 27250579 2016
dbSNP: rs886037945
rs886037945
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		0.800 GeneticVariation UNIPROT De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654 2016
dbSNP: rs886037945
rs886037945
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		T 0.800 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111 2013