Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
0.100 GeneticVariation group BEFREE Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs lysosomal degradation of keratan sulphate and chondroitin-6-sulphate. 31196221 2019
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
0.100 GeneticVariation group BEFREE Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disease due to N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. 31200731 2019
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
0.100 GeneticVariation group BEFREE Morquio A syndrome, or mucopolysaccharidosis type IVA (MPS IVA), is a lysosomal storage disease due to mutations in the N-acetylgalactosamine-6-sulfatase (<i>GALNS</i>) gene. 31540344 2019
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
0.100 Biomarker group BEFREE These new multivalent iminosugar architectures strongly and selectively inhibit N-acetylgalactosamine-6-sulfatase (GALNS), whose deficiency is connected to the lysosomal storage disease Morquio A. 30378631 2018
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
0.100 GeneticVariation group BEFREE Mucopolysaccharidosis IVA (MPS IVA; Morquio A: OMIM 253000) is a lysosomal storage disease with an autosomal recessive trait caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. 27979613 2017
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
0.100 Biomarker group BEFREE Morquio A syndrome (MPS IVA) is a systemic lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfatase (GALNS), encoded by the GALNS gene. 25545067 2015
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
0.100 Biomarker group BEFREE Mucopolysaccharidosis IV A (Morquio syndrome A, MPS IVA) is a lysosomal storage disease caused by the deficiency of N-acetylgalactosamine-6-sulfatase (GALNS). 25252036 2014
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
0.100 Biomarker group BEFREE Mucopolysaccharidosis IV A (MPS IV A) is a lysosomal storage disease produced by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) enzyme. 25287660 2014
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
0.100 GeneticVariation group BEFREE Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) activity. 23371450 2013
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
0.100 GeneticVariation group BEFREE Morquio A syndrome (MPS IVA) is a recessive lysosomal storage disorder (LSD) caused by mutations in the GALNS gene leading to the deficiency of lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). 22178352 2012
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
0.100 Biomarker group BEFREE 3.1.6.4) is deficient in patients with the lysosomal storage disease mucopolysaccharidosis IV A (also known as MPS IV A and Morquio A). 22940367 2012
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
0.100 Biomarker group BEFREE Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a lysosomal storage disease caused by deficiency of N-acetylgalactosamine-6-sulfatase (GALNS) and transmitted as an autosomal recessive trait. 20574428 2010
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
0.100 GeneticVariation group BEFREE In this study, we have investigated three factors to correctly predict the correlation between genotype and phenotype on N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene responsible for one of lysosomal storage diseases, known as mucopolysaccharidosis IVA (MPS IVA); (i) evolutionary conservation of amino acid residues among family proteins, (ii) conservativeness of amino acid changes in GALNS, and (iii) structural conservation of amino acid residue. 16837223 2006
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
0.100 Biomarker group BEFREE Deficiency of the lysosomal enzyme, N-acetylgalactosamine 6-sulfatase (GALNS;EC 3.1.6.4), results in the storage of the glycosaminoglycans, keratan sulfate and chondroitin 6-sulfate, which leads to the lysosomal storage disorder Morquio A syndrome. 8001980 1994