DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Alpers Syndrome (disorder) ×

Variant: rs121918056 ×

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:

rs121918056

POLG

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.700

CausalMutation

CLINVAR

Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia.

25281868

2014

dbSNP:

rs121918056

POLG

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.700

CausalMutation

CLINVAR

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.

22277967

2012

dbSNP:

rs121918056

POLG

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.700

CausalMutation

CLINVAR

Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations.

19307547

2009

dbSNP:

rs121918056

POLG

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.700

CausalMutation

CLINVAR

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

16621917

2006

dbSNP:

rs121918056

POLG

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.700

CausalMutation

CLINVAR

Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).

12707443

2003