DisGeNET - a database of gene-disease associations

Classical galactosemia, C0268151

Variant: rs111033638 ×

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:

rs111033638

rs111033638

GALT

A

0.700

GeneticVariation

CLINVAR

Neonatal screening, clinical features and genetic testing for galactosemia.

2005

dbSNP:

rs111033638

rs111033638

GALT

A

0.700

CausalMutation

CLINVAR