SYNJ1, synaptojanin 1, 8867

N. diseases: 128; N. variants: 12
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1569086116
rs1569086116
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1
CUI: C4479313
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 		C 0.700 GeneticVariation CLINVAR Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline. 27435091 2016
dbSNP: rs1569086116
rs1569086116
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1
CUI: C4479313
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 		C 0.700 GeneticVariation CLINVAR Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology. 25316601 2015
dbSNP: rs1057524877
rs1057524877
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1
CUI: C4479313
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1057524878
rs1057524878
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1
CUI: C4479313
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057524879
rs1057524879
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1
CUI: C4479313
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1057524880
rs1057524880
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1
CUI: C4479313
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1569147057
rs1569147057
Entrez Id: 8867;100506215
Gene Symbol: SYNJ1;PAXBP1-AS1
SYNJ1;PAXBP1-AS1
CUI: C4479313
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 		T 0.700 CausalMutation CLINVAR
dbSNP: rs778394516
rs778394516
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1
CUI: C4479313
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 		C 0.700 CausalMutation CLINVAR