DisGeNET - a database of gene-disease associations

MUCOLIPIDOSIS II ALPHA/BETA (disorder), C2673377

Variant: rs281864969 ×

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:

rs281864969

rs281864969

GNPTAB

A

0.700

GeneticVariation

CLINVAR

Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

2010

dbSNP:

rs281864969

rs281864969

GNPTAB

A

0.700

CausalMutation

CLINVAR