IDUA, alpha-L-iduronidase, 3425

N. diseases: 258; N. variants: 110
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 16 31 0.900 strong 1.000 143 29 1992 2020
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 36 90 0.800 None 0.992 130 85 1973 2020
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 5 20 0.770 strong 1.000 26 20 1992 2020
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 2 16 0.760 strong 1.000 29 16 1992 2020
CUI: C2713321
Disease: alpha-L-Iduronidase Deficiency
alpha-L-Iduronidase Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 4 0.330 None 1.000 8 2001 2014
CUI: C0029882
Disease: Otitis Media
Otitis Media
disease Otorhinolaryngologic Diseases Disease or Syndrome 175 8 0.200 None 1.000 5 2003 2007
CUI: C0038358
Disease: Gastric ulcer
Gastric ulcer
disease Digestive System Diseases Disease or Syndrome 136 7 0.200 None 1.000 1 1986 1986
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0.200 None 1.000 1 1983 1983
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.110 None 1.000 1 1 2006 2006
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.110 None 1.000 1 2017 2017
CUI: C0019270
Disease: Hernia
Hernia
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 136 10 0.110 None 1.000 1 2007 2007
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype Musculoskeletal Diseases Anatomical Abnormality 305 10 0.110 None 1.000 1 2017 2017
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
group Eye Diseases Disease or Syndrome 714 56 0.110 None 1.000 1 2019 2019
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 130 8 0.100 None 1.000 32 1995 2019
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 48 7 0.100 None 1.000 28 1976 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.917 12 1993 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.100 None 0.909 11 2002 2019
CUI: C0005938
Disease: Bone Density
Bone Density
phenotype Clinical Attribute 138 654 0.100 None 1.000 2 2 2012 2018
CUI: C0177804
Disease: Bone Mineral Density Test
Bone Mineral Density Test
phenotype Diagnostic Procedure 54 314 0.100 None 1.000 1 1 2012 2012
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 4 2018 2018
Progressive neurologic deterioration
phenotype Mental Disorders Finding 33 5 0.100 None 0
CUI: C0743360
Disease: Recurrent ear infections
Recurrent ear infections
group Finding 11 1 0.100 None 0
CUI: C1835473
Disease: Diaphyseal thickening
Diaphyseal thickening
phenotype Finding 14 0.100 None 0
CUI: C0038016
Disease: Spondylolisthesis
Spondylolisthesis
disease Musculoskeletal Diseases Disease or Syndrome 28 1 0.100 None 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0