Gene: SLC26A1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10861
Gene Symbol: SLC26A1
SLC26A1 		0.100 CausalMutation disease CLINVAR Worldwide distribution of common IDUA pathogenic variants. 29393969 2018
Entrez Id: 10861
Gene Symbol: SLC26A1
SLC26A1 		0.100 CausalMutation disease CLINVAR Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients. 23786846 2013
Entrez Id: 10861
Gene Symbol: SLC26A1
SLC26A1 		0.100 CausalMutation disease CLINVAR Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations. 22976768 2013
Entrez Id: 10861
Gene Symbol: SLC26A1
SLC26A1 		0.100 CausalMutation disease CLINVAR Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations. 11735025 2001
Entrez Id: 10861
Gene Symbol: SLC26A1
SLC26A1 		0.100 CausalMutation disease CLINVAR alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype. 1301941 1992