IDUA, alpha-L-iduronidase, 3425

N. diseases: 258; N. variants: 110
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1430681871
rs1430681871 		1.000 0.120 4 1001712 missense variant G/A snv 7.0E-06
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 16 1992 2013
dbSNP: rs1553917309
rs1553917309 		1.000 0.120 4 1002450 missense variant C/G snv
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 14 1992 2013
dbSNP: rs121965026
rs121965026 		0.925 0.120 4 1003108 missense variant G/A;C snv
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 8 1993 2015
dbSNP: rs121965027
rs121965027 		0.882 0.120 4 1003102 missense variant T/C snv 7.0E-06
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 8 1993 2011
dbSNP: rs121965027
rs121965027 		0.882 0.120 4 1003102 missense variant T/C snv 7.0E-06
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 8 1993 2015
dbSNP: rs1230234600
rs1230234600 		1.000 0.120 4 1001745 missense variant G/A;C snv
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 8 1993 2015
dbSNP: rs1281475543
rs1281475543 		1.000 0.120 4 1004307 missense variant T/A snv 7.0E-06
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 8 1993 2011
dbSNP: rs398123260
rs398123260 		1.000 0.120 4 987119 inframe insertion TCGCTCCTGGCC/-;TCGCTCCTGGCCTCGCTCCTGGCC delins 4.9E-05
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 6 1994 2012
dbSNP: rs121965027
rs121965027 		0.882 0.120 4 1003102 missense variant T/C snv 7.0E-06
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.710 1.000 5 1995 2016
dbSNP: rs991612107
rs991612107 		0.882 0.120 4 1002748 stop gained G/A snv
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.740 1.000 5 1996 2015
dbSNP: rs121965032
rs121965032 		0.882 0.120 4 1002387 missense variant C/T snv
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 4 1997 2011
dbSNP: rs121965032
rs121965032 		0.882 0.120 4 1002387 missense variant C/T snv
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 4 1997 2018
dbSNP: rs991612107
rs991612107 		0.882 0.120 4 1002748 stop gained G/A snv
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.040 1.000 4 1992 2004
dbSNP: rs1340421020
rs1340421020 		0.925 0.120 4 1002752 stop gained G/C;T snv
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 3 1995 2014
dbSNP: rs398123256
rs398123256 		1.000 0.120 4 1003475 splice region variant G/A snv
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 3 2002 2011
dbSNP: rs786200915
rs786200915 		0.925 0.120 4 1001700 frameshift variant -/TGCTC delins
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 3 1996 2017
dbSNP: rs1230096882
rs1230096882 		1.000 0.120 4 1002339 inframe deletion GAC/- delins 7.0E-06
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 2 2011 2016
dbSNP: rs1553914737
rs1553914737 		1.000 0.120 4 987085 start lost A/C snv
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 2 2011 2016
dbSNP: rs1553917192
rs1553917192 		1.000 0.120 4 1002009 stop gained G/T snv
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 2 1993 1994
dbSNP: rs1553917428
rs1553917428 		0.925 0.120 4 1002946 splice donor variant T/G snv
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 2 2001 2012
dbSNP: rs1553917428
rs1553917428 		0.925 0.120 4 1002946 splice donor variant T/G snv
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 2 2012 2015
dbSNP: rs786200915
rs786200915 		0.925 0.120 4 1001700 frameshift variant -/TGCTC delins
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 2 1996 2016
dbSNP: rs794726878
rs794726878 		0.925 0.120 4 987137 missense variant T/C snv 7.0E-06
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 2 2015 2015
dbSNP: rs113289555
rs113289555 		4 1003210 non coding transcript exon variant G/T snv 0.18
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs121965026
rs121965026 		0.925 0.120 4 1003108 missense variant G/A;C snv
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 1995 1995