ASL, argininosuccinate lyase, 435

N. diseases: 99; N. variants: 85
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: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity 		disease Anatomical Abnormality 29 0.100 None 0
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		disease Congenital Abnormality 99 50 0.010 None 1.000 1 2010 2010
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
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 1.000 definitive 1.000 47 84 1976 2019
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 117 50 0.040 None 1.000 4 2017 2019
CUI: C0154246
Disease: Urea Cycle Disorders, Inborn
Urea Cycle Disorders, Inborn 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 14 0.040 None 1.000 4 2003 2019
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 92 50 0.040 None 1.000 4 2017 2019
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 102 8 0.130 None 1.000 3 1 2001 2018
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 929 42 0.030 None 1.000 3 2018 2020
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.020 None 1.000 2 2016 2018
CUI: C0024115
Disease: Lung diseases
Lung diseases 		group Respiratory Tract Diseases Disease or Syndrome 700 50 0.020 None 1.000 2 2017 2018
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		disease Infections Disease or Syndrome 1256 328 0.020 None 1.000 2 2017 2019
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 344 16 0.010 None 1.000 1 2019 2019
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		disease Digestive System Diseases; Infections Disease or Syndrome 1449 519 0.010 None 1.000 1 2008 2008
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 247 176 0.010 None 1.000 1 2018 2018
CUI: C0085605
Disease: Liver Failure
Liver Failure 		disease Digestive System Diseases Disease or Syndrome 293 20 0.200 None 1.000 1 2002 2002
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 35 11 0.010 None 1.000 1 2017 2017
CUI: C0221505
Disease: Lesion of brain
Lesion of brain 		group Disease or Syndrome 188 9 0.010 None 1.000 1 2017 2017
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand 		disease Musculoskeletal Diseases Disease or Syndrome 61 21 0.010 None 1.000 1 2018 2018
CUI: C0267797
Disease: Acute hepatitis
Acute hepatitis 		disease Digestive System Diseases Disease or Syndrome 62 2 0.010 None 1.000 1 2008 2008
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 2008 2008
CUI: C0376618
Disease: Endotoxemia
Endotoxemia 		phenotype Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 401 5 0.200 None 1.000 1 2000 2000
CUI: C0520459
Disease: Necrotizing Enterocolitis
Necrotizing Enterocolitis 		disease Digestive System Diseases Disease or Syndrome 103 7 0.010 None 1.000 1 2014 2014
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 174 96 0.010 None 1.000 1 2019 2019
CUI: C0751753
Disease: Carbamoyl-Phosphate Synthase I Deficiency Disease
Carbamoyl-Phosphate Synthase I Deficiency Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 18 0.010 None 1.000 1 2008 2008