SLC26A1, solute carrier family 26 member 1, 10861

N. diseases: 33; N. variants: 24
Disease: Mucopolysaccharidosis I ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794726877
rs794726877
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		A 0.700 CausalMutation CLINVAR IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles. 21394825 2011
dbSNP: rs794726877
rs794726877
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		A 0.700 CausalMutation CLINVAR Mutational Analysis of the alpha-L-iduronidase gene in three Egyptian families: identification of three novel mutations and five novel polymorphisms. 19839758 2009
dbSNP: rs794726877
rs794726877
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		A 0.700 CausalMutation CLINVAR Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations. 12203999 2002
dbSNP: rs794726877
rs794726877
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		A 0.700 CausalMutation CLINVAR Mutations among Italian mucopolysaccharidosis type I patients. 9427149 1997
dbSNP: rs794726877
rs794726877
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		A 0.700 CausalMutation CLINVAR Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients. 7951228 1994