ADSL, adenylosuccinate lyase, 158

N. diseases: 84; N. variants: 30
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: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 2 28 0.790 strong 1.000 27 28 1992 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.430 None 1.000 3 1 1989 2004
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.410 strong 1.000 2 1992 2016
CUI: C4721814
Disease: Adenylosuccinate lyase deficiency type 2
Adenylosuccinate lyase deficiency type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 1 0.300 None 1.000 3 2000 2003
CUI: C4721811
Disease: Adenylosuccinate lyase deficiency type 1
Adenylosuccinate lyase deficiency type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 1 0.300 None 1.000 3 2000 2003
CUI: C4721812
Disease: Adenylosuccinate lyase deficiency type 4
Adenylosuccinate lyase deficiency type 4 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 1 0.300 None 1.000 3 2000 2003
CUI: C4721813
Disease: Adenylosuccinate lyase deficiency type 3
Adenylosuccinate lyase deficiency type 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 1 0.300 None 1.000 3 2000 2003
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease Nervous System Diseases Disease or Syndrome 187 126 0.300 strong 1.000 1 2016 2016
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 522 0.200 None 1.000 1 1988 1988
CUI: C0023904
Disease: Liver Neoplasms, Experimental
Liver Neoplasms, Experimental 		phenotype Digestive System Diseases; Neoplasms Neoplastic Process; Experimental Model of Disease 152 0.200 None 1.000 1 1985 1985
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.200 None 1.000 1 1 1985 1985
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.120 None 1.000 2 1999 2019
CUI: C0425782
Disease: Breast size
Breast size 		phenotype Finding 16 38 0.100 None 1.000 1 1 2018 2018
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		phenotype Mental Disorders Finding 73 6 0.100 None 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype Finding 130 50 0.100 None 0 2
CUI: C1837402
Disease: Flat occiput
Flat occiput 		phenotype Finding 45 6 0.100 None 0
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		phenotype Finding 105 10 0.100 None 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 17 0.100 None 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype Pathologic Function 306 12 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype Pathologic Function 244 40 0.100 None 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0
CUI: C1854114
Disease: Short nose
Short nose 		phenotype Finding 265 23 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0