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: 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: C0751463
Disease: Nerve Root Compression
Nerve Root Compression 		disease Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2014 2014
CUI: C4025598
Disease: Urinary glycosaminoglycan excretion
Urinary glycosaminoglycan excretion 		phenotype Finding 2 0.100 None 0
CUI: C4725027
Disease: Refractory Acute Leukemia
Refractory Acute Leukemia 		disease Neoplastic Process 3 0.010 None 1.000 1 2019 2019
CUI: C0549123
Disease: Large tonsils (finding)
Large tonsils (finding) 		phenotype Pathological Conditions, Signs and Symptoms Finding 3 0.100 None 0
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: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 4 72 0.010 None 1.000 1 2001 2001
CUI: C0852866
Disease: Cervical cord compression
Cervical cord compression 		phenotype Nervous System Diseases; Wounds and Injuries Finding 4 0.100 None 0
CUI: C1856920
Disease: Hypoplasia of the femoral head
Hypoplasia of the femoral head 		phenotype Finding 4 0.100 None 0
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: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 5 37 0.010 None 1.000 1 2017 2017
CUI: C0524812
Disease: Intracranial Hypotension
Intracranial Hypotension 		disease Nervous System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2014 2014
CUI: C0850673
Disease: congenital metabolic disorder
congenital metabolic disorder 		disease Congenital Abnormality 5 0.010 None 1.000 1 2019 2019
CUI: C1866772
Disease: Abnormal nerve conduction velocity
Abnormal nerve conduction velocity 		phenotype Finding 5 0.100 None 0
CUI: C2718068
Disease: beta-Galactosidase Deficiency
beta-Galactosidase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 6 0.010 None 1.000 1 2001 2001
CUI: C0521719
Disease: Clouding of corneal stroma
Clouding of corneal stroma 		disease Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 8 1 0.020 None 1.000 2 2019 2019
CUI: C1848103
Disease: Narrow pelvis bone
Narrow pelvis bone 		phenotype Finding 8 0.100 None 0
CUI: C4023009
Disease: Constrictive median neuropathy
Constrictive median neuropathy 		disease Nervous System Diseases Anatomical Abnormality 8 1 0.100 None 0
CUI: C4024726
Disease: Mucopolysacchariduria
Mucopolysacchariduria 		phenotype Finding 8 2 0.100 None 0
CUI: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination 		disease Anatomical Abnormality 9 4 0.100 None 0
CUI: C3258293
Disease: Valvular disease
Valvular disease 		disease Disease or Syndrome 10 1 0.010 None 1.000 1 2018 2018
CUI: C1854718
Disease: J-shaped sella turcica
J-shaped sella turcica 		phenotype Finding 10 1 0.100 None 0
CUI: C1863351
Disease: Calvarial hyperostosis
Calvarial hyperostosis 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 10 0.100 None 0
CUI: C3494976
Disease: Migrating partial seizures in infancy
Migrating partial seizures in infancy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 11 2 0.040 None 1.000 4 1 2002 2019
CUI: C0342643
Disease: Autosomal recessive hypophosphatemic vitamin D refractory rickets
Autosomal recessive hypophosphatemic vitamin D refractory rickets 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 11 2 0.010 None 1.000 1 1 2014 2014