rs121965021, IDUA

N. diseases: 7
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Pfaundler-Hurler Syndrome
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
90 0.807 0.320 4 1003418 missense variant C/G;T snv 5.6E-05 0.830 1.000 19 1992 2016
Hurler-Scheie Syndrome
CUI: C0086431
Disease: Hurler-Scheie Syndrome
20 0.807 0.320 4 1003418 missense variant C/G;T snv 5.6E-05 0.800 1.000 8 1993 2011
Mucopolysaccharidosis I
CUI: C0023786
Disease: Mucopolysaccharidosis I
31 0.807 0.320 4 1003418 missense variant C/G;T snv 5.6E-05 0.730 1.000 12 1992 2016
Mucopolysaccharidosis V
CUI: C0026708
Disease: Mucopolysaccharidosis V
16 0.807 0.320 4 1003418 missense variant C/G;T snv 5.6E-05 0.710 1.000 1 1998 1998
Autosomal recessive hypophosphatemic vitamin D refractory rickets
CUI: C0342643
Disease: Autosomal recessive hypophosphatemic vitamin D refractory rickets
2 0.807 0.320 4 1003418 missense variant C/G;T snv 5.6E-05 0.010 1.000 1 2014 2014
Glycogen Storage Disease
CUI: C0017919
Disease: Glycogen Storage Disease
16 0.807 0.320 4 1003418 missense variant C/G;T snv 5.6E-05 0.010 1.000 1 2014 2014
Migrating partial seizures in infancy
CUI: C3494976
Disease: Migrating partial seizures in infancy
2 0.807 0.320 4 1003418 missense variant C/G;T snv 5.6E-05 0.010 1.000 1 2011 2011