ATP6V1A, ATPase H+ transporting V1 subunit A, 523

N. diseases: 147; N. variants: 7
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4693934
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 		0.600 GeneticVariation disease UNIPROT De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy. 29668857 2018
CUI: C4693934
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. 28065471 2017
CUI: C4693934
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 		0.600 CausalMutation disease CLINVAR
CUI: C4693934
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 		0.600 GeneticVariation disease CLINVAR