DisGeNET - a database of gene-disease associations

Seizures, Focal, C0751495

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:

rs1556424691

CYTB ; ND6 ; TRNT

0.700

CausalMutation

CLINVAR

Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype.

30236074

2018

dbSNP:

rs1556424691

CYTB ; ND6 ; TRNT

0.700

CausalMutation

CLINVAR

CO₂-sensitive tRNA modification associated with human mitochondrial disease.

29760464

2018

dbSNP:

rs863223953

DNM1L ; YARS2

0.700

CausalMutation

CLINVAR

A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.

27145208

2016

dbSNP:

rs863223953

DNM1L ; YARS2

0.700

CausalMutation

CLINVAR

DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.

26604000

2016

dbSNP:

rs1556424691

CYTB ; ND6 ; TRNT

0.700

CausalMutation

CLINVAR

New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset.

22638997

2012

dbSNP:

rs1556424691

CYTB ; ND6 ; TRNT

0.700

CausalMutation

CLINVAR

Mitochondrial disorder associated with newborn cardiopulmonary arrest.

8511015

1993

dbSNP:

rs1009298200

ALG1

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1010184002

PEX6

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1555452127

ALG1

0.700

GeneticVariation

CLINVAR

dbSNP:

rs35993949

CPA6

0.700

GeneticVariation

CLINVAR

dbSNP:

rs369160589

ALG1

0.700

GeneticVariation

CLINVAR

dbSNP:

rs61738009

CPA6 ; LOC102724708

0.700

GeneticVariation

CLINVAR

dbSNP:

rs61753219

PEX6

0.700

GeneticVariation

CLINVAR

dbSNP:

rs535860

BACE1 ; BACE1-AS

0.010

GeneticVariation

BEFREE

Our study demonstrated there may exist an association between BACE1 rs535860 (A>T) polymorphism and focal seizures in Chinese Han males.

29595667

2018

dbSNP:

rs878329

0.010

GeneticVariation

BEFREE

Our study demonstrated the potentially significant role of NLRP1 rs878329 (G>C) in developing susceptibility to the pa</span>rtial seizures in a Chinese Han population.

28503575

2017

dbSNP:

rs211037

GABRG2

0.010

GeneticVariation

BEFREE

Results of the case-control study showed associations between rs211037 and the risk of SE in the pooled data from all cohorts (T vs. C, p = 3 × 10(-5), and TT vs. CC, p = 2 × 10(-5)) and the risk of partial seizure in the combined data of Malaysia and Hong Kong (both T vs. C and TT vs. CC, p = 2 × 10(-6)).

26452361

2016

dbSNP:

rs3740066

ABCC2

0.010

GeneticVariation

BEFREE

Significant association of the rs3740066 allele was observed in Malaysian females of Malay origin with cryptogenic epilepsy and Chinese patients with partial seizure and for genotypes in Malay patients with cryptogenic epilepsy for the CT versus CC and autosomal dominant genotype models.

24624913

2014

dbSNP:

rs786204929

PTEN

0.010

GeneticVariation

BEFREE

We report the case of a girl with Cowden syndrome (CS) presenting with unilateral perisylvian dysplasia and with drug resistant focal seizures carrying a novel missense mutation 385G>A (G129R) in the PTEN gene.

22469695

2012

dbSNP:

rs119488099

LGI1 ; LOC105378437

0.010

GeneticVariation

BEFREE

We found two pathogenic LGI1 mutations with uncommonly low penetrance: the R136W mutation, previously detected in a sporadic case with telephone-induced partial seizures, gave rise to the epileptic phenotype in three of nine mutation carriers in one family; the novel C179R mutation caused epilepsy in an isolated patient from a family where the mutation segregated.

21504429

2011