IDS, iduronate 2-sulfatase, 3423

N. diseases: 136; N. variants: 68
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: C0035243
Disease: Respiratory Tract Infections
Respiratory Tract Infections
group Infections; Respiratory Tract Diseases Disease or Syndrome 187 10 0.010 None 1.000 1 2004 2004
CUI: C0233794
Disease: Memory impairment
Memory impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 763 48 0.010 None 1.000 1 2018 2018
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 233 30 0.010 None 1.000 1 2012 2012
Deficiency of steroid 21-monooxygenase
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 54 26 0.010 None 1.000 1 2005 2005
CUI: C0271708
Disease: Fasting Hypoglycemia
Fasting Hypoglycemia
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 39 1 0.010 None 1.000 1 2011 2011
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.010 None 1.000 1 2018 2018
Generalized glycogen storage disease of infants
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 51 16 0.010 None 1.000 1 2018 2018
Carnitine-Acylcarnitine Translocase Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 7 16 0.010 None 1.000 1 2000 2000
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 593 24 0.010 None 1.000 1 2001 2001
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 29 140 0.010 None 1.000 1 1996 1996
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.010 None 1.000 1 2018 2018
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder)
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 17 26 0.010 None 1.000 1 2010 2010
CUI: C0178417
Disease: Anhedonia
Anhedonia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 93 7 0.010 None 1.000 1 2017 2017
CUI: C0037315
Disease: Sleep Apnea Syndromes
Sleep Apnea Syndromes
disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 148 18 0.010 None 1.000 1 1983 1983
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 311 74 0.010 None 1.000 1 2018 2018
CUI: C0038436
Disease: Post-Traumatic Stress Disorder
Post-Traumatic Stress Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 418 117 0.010 None 1.000 1 2018 2018
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.010 None 1.000 1 2012 2012
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 199 10 0.010 None < 0.001 1 2018 2018
CUI: C0085278
Disease: Antiphospholipid Syndrome
Antiphospholipid Syndrome
disease Immune System Diseases Disease or Syndrome 99 17 0.010 None 1.000 1 2018 2018
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 176 37 0.010 None 1.000 1 2014 2014
CUI: C0085635
Disease: Photopsia
Photopsia
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 35 0.010 None 1.000 1 2018 2018
CUI: C0154575
Disease: Rumination Disorders
Rumination Disorders
group Mental Disorders Mental or Behavioral Dysfunction 33 13 0.010 None 1.000 1 2018 2018
CUI: C0522274
Disease: Humoral immune defect
Humoral immune defect
group Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 29 0.010 None 1.000 1 2014 2014
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.010 None 1.000 1 2013 2013
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 1224 129 0.010 None 1.000 1 2018 2018