DisGeNET - a database of gene-disease associations

Schindler Disease, Type I, C1836544

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:

rs121434529

NAGA

0.810

GeneticVariation

BEFREE

The structural change caused by E325K found in patients with Schindler disease is localized on the N-terminal side of the tenth beta-strand in domain II and is smaller than those caused by R329W/Q.

14685826

2004

dbSNP:

rs121434529

NAGA

0.810

CausalMutation

CLINVAR

Both sibs are homozygous for the E325K mutation, the same genotype that was found in the most severe form of alpha-NAGA deficiency presenting as infantile neuroaxonal dystrophy.

11313741

2001

dbSNP:

rs121434529

NAGA

0.810

CausalMutation

CLINVAR

The newly identified patient is consanguineous with the first patients reported with alpha-NAGA deficiency and neuroaxonal dystrophy and they all had the alpha-NAGA genotype E325K/E325K.

8782044

1996

dbSNP:

rs121434529

NAGA

0.810

GeneticVariation

UNIPROT

The newly identified patient is consanguineous with the first patients reported with alpha-NAGA deficiency and neuroaxonal dystrophy and they all had the alpha-NAGA genotype E325K/E325K.

8782044

1996

dbSNP:

rs121434529

NAGA

0.810

CausalMutation

CLINVAR

The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria.

8040340

1994

dbSNP:

rs121434529

NAGA

0.810

CausalMutation

CLINVAR

alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis.

8071745

1994

dbSNP:

rs121434529

NAGA

0.810

CausalMutation

CLINVAR

Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings.

7707696

1994

dbSNP:

rs121434529

NAGA

0.810

GeneticVariation

UNIPROT

Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy.

2243144

1990

dbSNP:

rs121434529

NAGA

0.810

CausalMutation

CLINVAR

Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy.

2243144

1990

dbSNP:

rs121434529

NAGA

0.810

CausalMutation

CLINVAR

An interaction model of a Poisson and a renewal process related to neuron firing.

1131374

1975

dbSNP:

rs121434529

NAGA

0.810

GeneticVariation

CLINVAR

dbSNP:

rs121434532

NAGA ; LOC107985551

0.800

GeneticVariation

CLINVAR

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.

8782044

1996

dbSNP:

rs121434532

NAGA ; LOC107985551

0.800

GeneticVariation

UNIPROT

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.

8782044

1996

dbSNP:

rs121434532

NAGA ; LOC107985551

0.800

GeneticVariation

UNIPROT

Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy.

2243144

1990

dbSNP:

rs140673721

NAGA

0.700

GeneticVariation

CLINVAR

A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Ménière's syndrome and without mental retardation.

11251574

2001

dbSNP:

rs140673721

NAGA

0.700

GeneticVariation

CLINVAR

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.

8782044

1996

dbSNP:

rs779423223

NAGA ; LOC107985551

0.700

GeneticVariation

CLINVAR