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: C0345203
Disease: Congenital atresia of large intestine
Congenital atresia of large intestine 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 1 0.020 None 1.000 2 2017 2019
CUI: C0233558
Disease: Temper tantrum
Temper tantrum 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1 2 0.010 None 1.000 1 2018 2018
CUI: C0262525
Disease: Incomplete right bundle branch block
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: 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: C0338986
Disease: Atypical autism
Atypical autism 		disease Mental Disorders Mental or Behavioral Dysfunction 3 0.010 None 1.000 1 2017 2017
CUI: C1405458
Disease: Language Problems
Language Problems 		phenotype Mental or Behavioral Dysfunction 4 2 0.010 None 1.000 1 2017 2017
CUI: C1409792
Disease: Coronary sinus defect
Coronary sinus defect 		disease Congenital Abnormality 5 0.010 None 1.000 1 2017 2017
CUI: C1840283
Disease: ICHTHYOSIS--CHEEK--EYEBROW SYNDROME
ICHTHYOSIS--CHEEK--EYEBROW SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C4721769
Disease: Citrullinemia Type 1
Citrullinemia Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 5 85 0.010 None 1.000 1 2018 2018
CUI: C4552213
Disease: Broad autism phenotype
Broad autism phenotype 		disease Mental or Behavioral Dysfunction 6 0.020 None 1.000 2 2014 2019
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: 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: 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
CUI: C0795858
Disease: Chromosome 15q, trisomy
Chromosome 15q, trisomy 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 7 0.010 None 1.000 1 2018 2018
CUI: C0231617
Disease: Catch - Finding of sensory dimension of pain
Catch - Finding of sensory dimension of pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 8 0.010 None 1.000 1 2018 2018
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: 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: C3266843
Disease: 47, XYY syndrome
47, XYY syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 9 0.010 None 1.000 1 2019 2019
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: C0024214
Disease: Lymphangiectasis
Lymphangiectasis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 11 0.010 None 1.000 1 2001 2001
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: C0009460
Disease: Communication impairment
Communication impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 13 1 0.010 None 1.000 1 2018 2018
CUI: C0686346
Disease: Gender Dysphoria
Gender Dysphoria 		phenotype Mental Disorders Mental or Behavioral Dysfunction 13 2 0.010 None 1.000 1 2019 2019
CUI: C0746408
Disease: mass lesion
mass lesion 		phenotype Neoplastic Process 15 2 0.010 None 1.000 1 2018 2018
CUI: C0034089
Disease: Pulmonary Valve Stenosis
Pulmonary Valve Stenosis 		disease Cardiovascular Diseases Disease or Syndrome; Anatomical Abnormality 16 2 0.010 None 1.000 1 2009 2009