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: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 426 87 0.020 None 1.000 2 2017 2018
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 406 58 0.020 None 1.000 2 1987 2007
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 104 6 0.020 None 1.000 2 2018 2018
CUI: C0546965
Disease: Parachute malformation of mitral valve
Parachute malformation of mitral valve 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 1 0.010 None 1.000 1 1987 1987
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: 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
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: C0266589
Disease: Congenital ear anomaly NOS (disorder)
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: 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
CUI: C0424101
Disease: Inattention
Inattention 		phenotype Mental or Behavioral Dysfunction 66 22 0.010 None 1.000 1 2019 2019
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.010 None 1.000 1 2019 2019
CUI: C0338908
Disease: Mixed anxiety and depressive disorder
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: C0476254
Disease: Dyslexia
Dyslexia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 118 30 0.010 None 1.000 1 2017 2017
CUI: C0426576
Disease: Gastrointestinal symptom
Gastrointestinal symptom 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 69 7 0.010 None 1.000 1 2017 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2017 2017
CUI: C1853235
Disease: Sclerocornea
Sclerocornea 		disease Eye Diseases Disease or Syndrome 42 3 0.010 None 1.000 1 2016 2016
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 10 93 0.010 None 1.000 1 2018 2018
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		disease Cardiovascular Diseases Disease or Syndrome 106 40 0.010 None 1.000 1 2009 2009
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 191 67 0.010 None 1.000 1 2019 2019
CUI: C2609259
Disease: Symphysis Pubis Dysfunction
Symphysis Pubis Dysfunction 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 23 4 0.010 None 1.000 1 2018 2018