SYNJ1, synaptojanin 1, 8867

N. diseases: 128; N. variants: 12
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4479313
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 		0.700 GeneticVariation disease UNIPROT Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline. 27435091 2016
CUI: C4479313
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 		0.700 Biomarker disease GENOMICS_ENGLAND Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline. 27435091 2016
CUI: C4479313
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 		0.700 GeneticVariation disease CLINVAR Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline. 27435091 2016
CUI: C4479313
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 		0.700 GeneticVariation disease CLINVAR Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology. 25316601 2015
CUI: C4479313
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 		0.700 CausalMutation disease CLINVAR
CUI: C4479313
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 		0.700 Biomarker disease CTD_human