IDUA, alpha-L-iduronidase, 3425

N. diseases: 258; N. variants: 110
Disease: Hurler-Scheie Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121965020
rs121965020
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0086431
Disease:
Hurler-Scheie Syndrome 		T 0.700 CausalMutation CLINVAR Worldwide distribution of common IDUA pathogenic variants. 29393969 2018
dbSNP: rs121965020
rs121965020
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0086431
Disease:
Hurler-Scheie Syndrome 		T 0.700 CausalMutation CLINVAR Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients. 23786846 2013
dbSNP: rs121965020
rs121965020
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0086431
Disease:
Hurler-Scheie Syndrome 		T 0.700 CausalMutation CLINVAR Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations. 22976768 2013
dbSNP: rs121965020
rs121965020
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0086431
Disease:
Hurler-Scheie Syndrome 		T 0.700 CausalMutation 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
dbSNP: rs121965020
rs121965020
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0086431
Disease:
Hurler-Scheie Syndrome 		T 0.700 CausalMutation CLINVAR alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype. 1301941 1992