ARSD, arylsulfatase D, 414

N. diseases: 163; N. variants: 1
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: C0037789
Disease: Specific reading disorder
Specific reading disorder
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 6 0.010 None 1.000 1 2017 2017
CUI: C0264886
Disease: Conduction disorder of the heart
Conduction disorder of the heart
group Cardiovascular Diseases Disease or Syndrome 41 11 0.010 None 1.000 1 2002 2002
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 9 2 0.010 None 1.000 1 2015 2015
CUI: C0266525
Disease: Irido-corneal dysgenesis
Irido-corneal dysgenesis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 22 2 0.010 None 1.000 1 2016 2016
Congenital ear anomaly NOS (disorder)
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases Congenital Abnormality 137 5 0.010 None 1.000 1 1997 1997
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 9 84 0.010 None 1.000 1 2018 2018
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 11 26 0.010 None 1.000 1 2018 2018
CUI: C0270549
Disease: Generalized Anxiety Disorder
Generalized Anxiety Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 103 24 0.010 None 1.000 1 2019 2019
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 48 3 0.010 None 1.000 1 2019 2019
CUI: C0302826
Disease: Expressed Emotion
Expressed Emotion
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 6 1 0.010 None 1.000 1 2017 2017
CUI: C0333307
Disease: Superficial ulcer
Superficial ulcer
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 242 10 0.010 None < 0.001 1 2017 2017
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.010 None 1.000 1 2018 2018
Mixed anxiety and depressive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 146 13 0.010 None 1.000 1 2019 2019
CUI: C0338986
Disease: Atypical autism
Atypical autism
disease Mental Disorders Mental or Behavioral Dysfunction 3 0.010 None 1.000 1 2017 2017
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
disease Eye Diseases Disease or Syndrome 383 222 0.010 None 1.000 1 2016 2016
Incomplete right bundle branch block
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C0262405
Disease: Cerebral dysfunction
Cerebral dysfunction
disease Nervous System Diseases Disease or Syndrome 45 0.010 None 1.000 1 2008 2008
CUI: C0237123
Disease: Alcohol or Other Drugs use
Alcohol or Other Drugs use
disease Mental or Behavioral Dysfunction 108 21 0.010 None 1.000 1 2014 2014
CUI: C0042963
Disease: Vomiting
Vomiting
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 303 23 0.010 None 1.000 1 2017 2017
CUI: C0043202
Disease: Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 48 22 0.010 None 1.000 1 2018 2018
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve
disease Cardiovascular Diseases Congenital Abnormality 154 23 0.010 None 1.000 1 2019 2019
CUI: C0152227
Disease: Excessive tearing
Excessive tearing
disease Eye Diseases Disease or Syndrome 26 2 0.010 None 1.000 1 2018 2018
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 119 43 0.010 None 1.000 1 2009 2009
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality 138 26 0.010 None 1.000 1 1987 1987
CUI: C0175683
Disease: Citrullinemia
Citrullinemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 7 2 0.010 None 1.000 1 2018 2018