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: rs754966840
rs754966840
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		T 0.710 CausalMutation CLINVAR Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome. 24368159 2014
dbSNP: rs754966840
rs754966840
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		T 0.710 CausalMutation CLINVAR Genotypic and bioinformatic evaluation of the alpha-l-iduronidase gene and protein in patients with mucopolysaccharidosis type I from Colombia, Ecuador and Peru. 27896125 2014
dbSNP: rs754966840
rs754966840
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		T 0.710 CausalMutation CLINVAR Analysis of cDNA molecules is not suitable for the molecular diagnosis of Mucopolysaccharidosis type I. 22306676 2012
dbSNP: rs754966840
rs754966840
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		T 0.710 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: rs754966840
rs754966840
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		T 0.710 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: rs754966840
rs754966840
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		0.710 GeneticVariation BEFREE The alpha-L-iduronidase mutations R89Q and R89W result in an attenuated mucopolysaccharidosis type I clinical presentation. 14559116 2003
dbSNP: rs754966840
rs754966840
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		T 0.710 CausalMutation CLINVAR Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients. 12559846 2003
dbSNP: rs754966840
rs754966840
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		T 0.710 CausalMutation CLINVAR Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations. 8664897 1996
dbSNP: rs754966840
rs754966840
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		T 0.710 CausalMutation CLINVAR Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene. 7550242 1995