DisGeNET - a database of gene-disease associations

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53, C4479313

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1569086116

SYNJ1

0.700

GeneticVariation

CLINVAR

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.

27435091

2016

dbSNP:

rs1569086116

SYNJ1

0.700

GeneticVariation

CLINVAR

Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology.

25316601

2015

dbSNP:

rs1057524877

SYNJ1

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057524878

SYNJ1

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057524879

SYNJ1

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057524880

SYNJ1

0.700

CausalMutation

CLINVAR

dbSNP:

rs1569147057

SYNJ1 ; PAXBP1-AS1

0.700

CausalMutation

CLINVAR

dbSNP:

rs778394516

SYNJ1

0.700

CausalMutation

CLINVAR