DisGeNET - a database of gene-disease associations

Hypomyelination, Global Cerebral, C2751855

Variant: rs121434396 ×

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:

rs121434396

SLC25A12

0.800

GeneticVariation

UNIPROT

AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.

24515575

2014

dbSNP:

rs121434396

SLC25A12

0.800

GeneticVariation

UNIPROT

AGC1 deficiency associated with global cerebral hypomyelination.

19641205

2009

dbSNP:

rs121434396

SLC25A12

0.800

CausalMutation

CLINVAR