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: rs121965021
rs121965021 		0.807 0.320 4 1003418 missense variant C/G;T snv 5.6E-05
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 0.830 1.000 19 1992 2016
dbSNP: rs199801029
rs199801029 		0.925 0.120 4 1002275 missense variant G/C snv 6.6E-05 7.7E-05
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 18 1992 2016
dbSNP: rs794727896
rs794727896 		1.000 0.120 4 1002459 missense variant C/A;G;T snv 6.5E-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 18 1992 2013
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: rs121965024
rs121965024 		1.000 0.120 4 1002392 missense variant A/C snv 4.3E-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 14 1992 2013
dbSNP: rs121965021
rs121965021 		0.807 0.320 4 1003418 missense variant C/G;T snv 5.6E-05
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: 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: rs121965033
rs121965033 		0.925 0.120 4 1002333 missense variant T/C;G snv 4.0E-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: rs121965019
rs121965019 		0.851 0.120 4 1002747 stop gained G/A snv 5.9E-04 8.4E-04
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.740 1.000 17 1992 2016
dbSNP: rs121965020
rs121965020 		0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04
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 10 1992 2013
dbSNP: rs121965019
rs121965019 		0.851 0.120 4 1002747 stop gained G/A snv 5.9E-04 8.4E-04
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 8 1992 2014
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: rs121965020
rs121965020 		0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.730 1.000 17 1992 2014
dbSNP: rs121965021
rs121965021 		0.807 0.320 4 1003418 missense variant C/G;T snv 5.6E-05
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.730 1.000 12 1992 2016
dbSNP: rs121965029
rs121965029 		0.851 0.120 4 987916 missense variant G/A snv 9.2E-06 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 0.730 1.000 10 1993 2019
dbSNP: rs148789453
rs148789453 		0.882 0.120 4 1001802 missense variant T/A;G snv 2.2E-05; 4.4E-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 0.720 1.000 3 2004 2019
dbSNP: rs148789453
rs148789453 		0.882 0.120 4 1001802 missense variant T/A;G snv 2.2E-05; 4.4E-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 0.720 1.000 2 2014 2019
dbSNP: rs756572099
rs756572099 		1.000 0.120 4 1004313 stop gained C/G;T snv 2.0E-05
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 9 2001 2016
dbSNP: rs754966840
rs754966840 		0.925 0.120 4 987915 missense variant C/T snv 1.4E-05
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.710 1.000 8 1995 2014
dbSNP: rs772416503
rs772416503 		0.882 0.120 4 1003120 missense variant C/G;T snv 1.4E-05
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 7 1995 2016
dbSNP: rs121965019
rs121965019 		0.851 0.120 4 1002747 stop gained G/A snv 5.9E-04 8.4E-04
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.710 1.000 6 1992 2014
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: rs776787370
rs776787370 		1.000 0.120 4 1004027 stop gained C/G;T snv 1.6E-05
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 4 2011 2016
dbSNP: rs121965021
rs121965021 		0.807 0.320 4 1003418 missense variant C/G;T snv 5.6E-05
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.710 1.000 1 1998 1998