NAGA, alpha-N-acetylgalactosaminidase, 4668

N. diseases: 86; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434529
rs121434529
Entrez Id: 4668
Gene Symbol: NAGA
NAGA
CUI: C1836544
Disease:
Schindler Disease, Type I 		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
rs121434529
Entrez Id: 4668
Gene Symbol: NAGA
NAGA
CUI: C1836544
Disease:
Schindler Disease, Type I 		T 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
rs121434529
Entrez Id: 4668
Gene Symbol: NAGA
NAGA
CUI: C1836544
Disease:
Schindler Disease, Type I 		T 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
rs121434529
Entrez Id: 4668
Gene Symbol: NAGA
NAGA
CUI: C1836544
Disease:
Schindler Disease, Type I 		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
rs121434529
Entrez Id: 4668
Gene Symbol: NAGA
NAGA
CUI: C1836544
Disease:
Schindler Disease, Type I 		T 0.810 CausalMutation CLINVAR The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria. 8040340 1994
dbSNP: rs121434529
rs121434529
Entrez Id: 4668
Gene Symbol: NAGA
NAGA
CUI: C1836544
Disease:
Schindler Disease, Type I 		T 0.810 CausalMutation CLINVAR alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis. 8071745 1994
dbSNP: rs121434529
rs121434529
Entrez Id: 4668
Gene Symbol: NAGA
NAGA
CUI: C1836544
Disease:
Schindler Disease, Type I 		T 0.810 CausalMutation CLINVAR Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings. 7707696 1994
dbSNP: rs121434529
rs121434529
Entrez Id: 4668
Gene Symbol: NAGA
NAGA
CUI: C1836544
Disease:
Schindler Disease, Type I 		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
rs121434529
Entrez Id: 4668
Gene Symbol: NAGA
NAGA
CUI: C1836544
Disease:
Schindler Disease, Type I 		T 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
rs121434529
Entrez Id: 4668
Gene Symbol: NAGA
NAGA
CUI: C1836544
Disease:
Schindler Disease, Type I 		T 0.810 CausalMutation CLINVAR An interaction model of a Poisson and a renewal process related to neuron firing. 1131374 1975
dbSNP: rs121434529
rs121434529
Entrez Id: 4668
Gene Symbol: NAGA
NAGA
CUI: C1836544
Disease:
Schindler Disease, Type I 		T 0.810 GeneticVariation CLINVAR
dbSNP: rs121434530
rs121434530
Entrez Id: 4668
Gene Symbol: NAGA
NAGA
CUI: C1836522
Disease:
Schindler Disease, Type II 		0.800 GeneticVariation UNIPROT A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Ménière's syndrome and without mental retardation. 11251574 2001
dbSNP: rs121434532
rs121434532
Entrez Id: 4668;107985551
Gene Symbol: NAGA;LOC107985551
NAGA;LOC107985551
CUI: C1836544
Disease:
Schindler Disease, Type I 		C 0.800 GeneticVariation CLINVAR Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype. 8782044 1996
dbSNP: rs121434532
rs121434532
Entrez Id: 4668;107985551
Gene Symbol: NAGA;LOC107985551
NAGA;LOC107985551
CUI: C1836544
Disease:
Schindler Disease, Type I 		0.800 GeneticVariation UNIPROT Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype. 8782044 1996
dbSNP: rs121434530
rs121434530
Entrez Id: 4668
Gene Symbol: NAGA
NAGA
CUI: C1836522
Disease:
Schindler Disease, Type II 		0.800 GeneticVariation UNIPROT The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria. 8040340 1994
dbSNP: rs121434532
rs121434532
Entrez Id: 4668;107985551
Gene Symbol: NAGA;LOC107985551
NAGA;LOC107985551
CUI: C1836544
Disease:
Schindler Disease, Type I 		0.800 GeneticVariation UNIPROT Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy. 2243144 1990
dbSNP: rs121434530
rs121434530
Entrez Id: 4668
Gene Symbol: NAGA
NAGA
CUI: C1836522
Disease:
Schindler Disease, Type II 		A 0.800 CausalMutation CLINVAR
dbSNP: rs62238588
rs62238588
Entrez Id: 4668;164684
Gene Symbol: NAGA;WBP2NL
NAGA;WBP2NL
CUI: C0021704
Disease:
Intelligence 		T 0.700 GeneticVariation GWASCAT Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. 29942086 2018
dbSNP: rs121434533
rs121434533
Entrez Id: 4668
Gene Symbol: NAGA
NAGA
CUI: C1836522
Disease:
Schindler Disease, Type II 		0.700 GeneticVariation UNIPROT A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Ménière's syndrome and without mental retardation. 11251574 2001
dbSNP: rs140673721
rs140673721
Entrez Id: 4668
Gene Symbol: NAGA
NAGA
CUI: C1836544
Disease:
Schindler Disease, Type I 		T 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
rs140673721
Entrez Id: 4668
Gene Symbol: NAGA
NAGA
CUI: C1836544
Disease:
Schindler Disease, Type I 		T 0.700 GeneticVariation CLINVAR Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype. 8782044 1996
dbSNP: rs121434533
rs121434533
Entrez Id: 4668
Gene Symbol: NAGA
NAGA
CUI: C1836522
Disease:
Schindler Disease, Type II 		0.700 GeneticVariation UNIPROT The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria. 8040340 1994
dbSNP: rs121434529
rs121434529
Entrez Id: 4668
Gene Symbol: NAGA
NAGA
CUI: C1836522
Disease:
Schindler Disease, Type II 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121434529
rs121434529
Entrez Id: 4668
Gene Symbol: NAGA
NAGA
CUI: C1836522
Disease:
Schindler Disease, Type II 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs121434531
rs121434531
Entrez Id: 4668;107985551
Gene Symbol: NAGA;LOC107985551
NAGA;LOC107985551
CUI: C1836522
Disease:
Schindler Disease, Type II 		A 0.700 CausalMutation CLINVAR