DisGeNET - a database of gene-disease associations

X-linked infantile spasms, C4552072

Variant: rs587777057 ×

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:

rs587777057

GNAO1

0.700

CausalMutation

CLINVAR

Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations.

28747448

2017

dbSNP:

rs587777057

GNAO1

0.700

CausalMutation

CLINVAR

GNAO1-associated epileptic encephalopathy and movement disorders: c.607G>A variant represents a probable mutation hotspot with a distinct phenotype.

28202424

2017

dbSNP:

rs587777057

GNAO1

0.700

CausalMutation

CLINVAR

GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females.

27072799

2016

dbSNP:

rs587777057

GNAO1

0.700

CausalMutation

CLINVAR

Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation.

26060304

2016

dbSNP:

rs587777057

GNAO1

0.700

CausalMutation

CLINVAR

Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.

25966631

2016

dbSNP:

rs587777057

GNAO1

0.700

CausalMutation

CLINVAR

De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.

23993195

2013