Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51693
Gene Symbol: TRAPPC2L
TRAPPC2L
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A
0.100 GeneticVariation CLINVAR Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations. 24726177

2014

Entrez Id: 51693
Gene Symbol: TRAPPC2L
TRAPPC2L
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A
0.100 GeneticVariation CLINVAR GALNS mutations in Indian patients with mucopolysaccharidosis IVA. 25252036

2014

Entrez Id: 51693
Gene Symbol: TRAPPC2L
TRAPPC2L
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A
0.100 GeneticVariation CLINVAR Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). 16287098

2005

Entrez Id: 51693
Gene Symbol: TRAPPC2L
TRAPPC2L
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A
0.100 GeneticVariation CLINVAR Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene. 9375852

1997