PHACTR1, phosphatase and actin regulator 1, 221692

N. diseases: 59; N. variants: 28
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4749023
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70 		0.600 GeneticVariation disease UNIPROT De novo PHACTR1 mutations in West syndrome and their pathophysiological effects. 30256902 2018
CUI: C4749023
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70 		0.600 Biomarker disease GENOMICS_ENGLAND Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. 27457812 2017
CUI: C4749023
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70 		0.600 GeneticVariation disease UNIPROT Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
CUI: C4749023
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70 		0.600 CausalMutation disease CLINVAR