DisGeNET - a database of gene-disease associations

BAKER-GORDON SYNDROME, C4748715

Variant: rs1135402761 ×

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:

rs1135402761

SYT1

0.800

GeneticVariation

CLINVAR

SYT1-associated neurodevelopmental disorder: a case series.

30107533

2018

dbSNP:

rs1135402761

SYT1

0.800

GeneticVariation

CLINVAR

Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling.

25705886

2015

dbSNP:

rs1135402761

SYT1

0.800

CausalMutation

CLINVAR

dbSNP:

rs1135402761

SYT1

0.800

GeneticVariation

UNIPROT