IDUA, alpha-L-iduronidase, 3425

N. diseases: 258; N. variants: 110
Disease: Pfaundler-Hurler Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794726878
rs794726878
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0086795
Disease:
Pfaundler-Hurler Syndrome 		C 0.700 GeneticVariation CLINVAR Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses. 25557439 2015
dbSNP: rs794726878
rs794726878
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0086795
Disease:
Pfaundler-Hurler Syndrome 		C 0.700 GeneticVariation CLINVAR p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients. 25256405 2015