Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1028668536
rs1028668536
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
CUI: C0086651
Disease:
Mucopolysaccharidosis, MPS-IV-A 		0.800 GeneticVariation UNIPROT Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations. 24726177 2014
dbSNP: rs146093755
rs146093755
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
CUI: C0086651
Disease:
Mucopolysaccharidosis, MPS-IV-A 		0.800 GeneticVariation UNIPROT Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations. 24726177 2014
dbSNP: rs146093755
rs146093755
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
CUI: C0086651
Disease:
Mucopolysaccharidosis, MPS-IV-A 		T 0.800 GeneticVariation CLINVAR Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels. 23876334 2014
dbSNP: rs267606838
rs267606838
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
CUI: C0086651
Disease:
Mucopolysaccharidosis, MPS-IV-A 		0.800 GeneticVariation UNIPROT Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations. 24726177 2014
dbSNP: rs749578474
rs749578474
Entrez Id: 2588;107987238
Gene Symbol: GALNS;LOC107987238
GALNS;LOC107987238
CUI: C0086651
Disease:
Mucopolysaccharidosis, MPS-IV-A 		0.800 GeneticVariation UNIPROT Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations. 24726177 2014
dbSNP: rs755832705
rs755832705
Entrez Id: 2588;51693;107983950
Gene Symbol: GALNS;TRAPPC2L;LOC107983950
GALNS;TRAPPC2L;LOC107983950
CUI: C0086651
Disease:
Mucopolysaccharidosis, MPS-IV-A 		C 0.800 GeneticVariation CLINVAR Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations. 24726177 2014
dbSNP: rs755832705
rs755832705
Entrez Id: 2588;51693;107983950
Gene Symbol: GALNS;TRAPPC2L;LOC107983950
GALNS;TRAPPC2L;LOC107983950
CUI: C0086651
Disease:
Mucopolysaccharidosis, MPS-IV-A 		0.800 GeneticVariation UNIPROT Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations. 24726177 2014
dbSNP: rs755832705
rs755832705
Entrez Id: 2588;51693;107983950
Gene Symbol: GALNS;TRAPPC2L;LOC107983950
GALNS;TRAPPC2L;LOC107983950
CUI: C0086651
Disease:
Mucopolysaccharidosis, MPS-IV-A 		C 0.800 GeneticVariation CLINVAR GALNS mutations in Indian patients with mucopolysaccharidosis IVA. 25252036 2014
dbSNP: rs770053354
rs770053354
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
CUI: C0086651
Disease:
Mucopolysaccharidosis, MPS-IV-A 		0.800 GeneticVariation UNIPROT Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations. 24726177 2014
dbSNP: rs146093755
rs146093755
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
CUI: C0086651
Disease:
Mucopolysaccharidosis, MPS-IV-A 		T 0.800 GeneticVariation CLINVAR Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA. 23227063 2012
dbSNP: rs1028668536
rs1028668536
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
CUI: C0086651
Disease:
Mucopolysaccharidosis, MPS-IV-A 		0.800 GeneticVariation UNIPROT Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). 16287098 2005
dbSNP: rs146093755
rs146093755
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
CUI: C0086651
Disease:
Mucopolysaccharidosis, MPS-IV-A 		0.800 GeneticVariation UNIPROT Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). 16287098 2005
dbSNP: rs267606838
rs267606838
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
CUI: C0086651
Disease:
Mucopolysaccharidosis, MPS-IV-A 		0.800 GeneticVariation UNIPROT Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). 16287098 2005
dbSNP: rs749578474
rs749578474
Entrez Id: 2588;107987238
Gene Symbol: GALNS;LOC107987238
GALNS;LOC107987238
CUI: C0086651
Disease:
Mucopolysaccharidosis, MPS-IV-A 		0.800 GeneticVariation UNIPROT Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). 16287098 2005
dbSNP: rs755832705
rs755832705
Entrez Id: 2588;51693;107983950
Gene Symbol: GALNS;TRAPPC2L;LOC107983950
GALNS;TRAPPC2L;LOC107983950
CUI: C0086651
Disease:
Mucopolysaccharidosis, MPS-IV-A 		0.800 GeneticVariation UNIPROT Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). 16287098 2005
dbSNP: rs770053354
rs770053354
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
CUI: C0086651
Disease:
Mucopolysaccharidosis, MPS-IV-A 		0.800 GeneticVariation UNIPROT Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). 16287098 2005
dbSNP: rs146093755
rs146093755
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
CUI: C0086651
Disease:
Mucopolysaccharidosis, MPS-IV-A 		T 0.800 GeneticVariation CLINVAR Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene. 15235041 2004
dbSNP: rs1028668536
rs1028668536
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
CUI: C0086651
Disease:
Mucopolysaccharidosis, MPS-IV-A 		0.800 GeneticVariation UNIPROT Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype. 9521421 1998
dbSNP: rs146093755
rs146093755
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
CUI: C0086651
Disease:
Mucopolysaccharidosis, MPS-IV-A 		0.800 GeneticVariation UNIPROT Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype. 9521421 1998
dbSNP: rs267606838
rs267606838
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
CUI: C0086651
Disease:
Mucopolysaccharidosis, MPS-IV-A 		0.800 GeneticVariation UNIPROT Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype. 9521421 1998
dbSNP: rs749578474
rs749578474
Entrez Id: 2588;107987238
Gene Symbol: GALNS;LOC107987238
GALNS;LOC107987238
CUI: C0086651
Disease:
Mucopolysaccharidosis, MPS-IV-A 		0.800 GeneticVariation UNIPROT Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype. 9521421 1998
dbSNP: rs755832705
rs755832705
Entrez Id: 2588;51693;107983950
Gene Symbol: GALNS;TRAPPC2L;LOC107983950
GALNS;TRAPPC2L;LOC107983950
CUI: C0086651
Disease:
Mucopolysaccharidosis, MPS-IV-A 		0.800 GeneticVariation UNIPROT Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype. 9521421 1998
dbSNP: rs770053354
rs770053354
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
CUI: C0086651
Disease:
Mucopolysaccharidosis, MPS-IV-A 		0.800 GeneticVariation UNIPROT Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype. 9521421 1998
dbSNP: rs1028668536
rs1028668536
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
CUI: C0086651
Disease:
Mucopolysaccharidosis, MPS-IV-A 		0.800 GeneticVariation UNIPROT Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene. 9375852 1997
dbSNP: rs1028668536
rs1028668536
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
CUI: C0086651
Disease:
Mucopolysaccharidosis, MPS-IV-A 		0.800 GeneticVariation UNIPROT Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome. 9298823 1997