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: rs121965029
rs121965029
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		A 0.700 CausalMutation CLINVAR Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis. 21480867 2012
dbSNP: rs121965029
rs121965029
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		A 0.700 CausalMutation CLINVAR This was consistent with MPS I patients, with an R89W allele, having a less severe clinical presentation compared to MPS I patients with either a double or single allelic R89Q mutation. 14559116 2003
dbSNP: rs121965029
rs121965029
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		A 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: rs121965029
rs121965029
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		A 0.700 CausalMutation CLINVAR In the 19 Japanese MPS-I patients, the 704ins5 mutation accounted for 7 of 38 alleles (18%), while the R89Q accounted for 9 of 38 (24%). 8664897 1996