DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: X-linked infantile spasms ×

Variant: rs727503974 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs727503974

KCNQ2

CUI:	C4552072
Disease:	X-linked infantile spasms

X-linked infantile spasms

0.700

CausalMutation

CLINVAR

Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations.

27535030

2017

dbSNP:

rs727503974

KCNQ2

CUI:	C4552072
Disease:	X-linked infantile spasms

X-linked infantile spasms

0.700

CausalMutation

CLINVAR

Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.

28133863

2017

dbSNP:

rs727503974

KCNQ2

CUI:	C4552072
Disease:	X-linked infantile spasms

X-linked infantile spasms

0.700

CausalMutation

CLINVAR

Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy.

27779742

2017

dbSNP:

rs727503974

KCNQ2

CUI:	C4552072
Disease:	X-linked infantile spasms

X-linked infantile spasms

0.700

CausalMutation

CLINVAR

Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

24318194

2014

dbSNP:

rs727503974

KCNQ2

CUI:	C4552072
Disease:	X-linked infantile spasms

X-linked infantile spasms

0.700

CausalMutation

CLINVAR

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

22275249

2012