DisGeNET - a database of gene-disease associations

Pseudo-Hurler Polydystrophy, C0033788

Variant: rs200646278 ×

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:

rs200646278

GNPTAB

0.700

CausalMutation

CLINVAR

Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations.

27662472

2019

dbSNP:

rs200646278

GNPTAB

0.700

CausalMutation

CLINVAR

Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha/beta using targeted next-generation sequencing.

23773965

2013

dbSNP:

rs200646278

GNPTAB

0.700

CausalMutation

CLINVAR

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

19617216

2010