ASS1, argininosuccinate synthase 1, 445

N. diseases: 163; N. variants: 86
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: C0175683
Disease: Citrullinemia
Citrullinemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 7 2 0.900 definitive 1.000 33 2 1982 2020
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 0.800 definitive 1.000 63 85 1982 2019
Argininosuccinic Acid Synthetase Deficiency, Complete
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 1 0.550 definitive 1.000 14 1 1982 2017
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 0.400 strong 1.000 1 2009 2009
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 102 8 0.380 None 1.000 9 1999 2019
CUI: C0025945
Disease: Microangiopathy, Diabetic
Microangiopathy, Diabetic
disease Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 29 4 0.300 None 1.000 1 2014 2014
CUI: C0011875
Disease: Diabetic Angiopathies
Diabetic Angiopathies
disease Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 106 7 0.300 None 1.000 1 2014 2014
Argininosuccinic Acid Synthetase Deficiency Disease, Partial
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 0
CUI: C0376618
Disease: Endotoxemia
Endotoxemia
phenotype Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 401 5 0.210 None 1.000 2 2000 2011
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0.200 None 1.000 1 2010 2010
CUI: C0041755
Disease: Adverse reaction to drug
Adverse reaction to drug
group Chemically-Induced Disorders Pathologic Function 87 0.200 None 1.000 1 2010 2010
CUI: C0042164
Disease: Uveitis
Uveitis
disease Eye Diseases Disease or Syndrome 247 43 0.200 None 1.000 1 2002 2002
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: C0001349
Disease: Acute-Phase Reaction
Acute-Phase Reaction
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 24 0.200 None 1.000 1 2005 2005
CUI: C0242184
Disease: Hypoxia
Hypoxia
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 59 0.200 None 1.000 1 2010 2010
CUI: C0242706
Disease: Hyperoxia
Hyperoxia
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 50 0.200 None 1.000 1 2010 2010
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 2001 2001
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.962 26 1993 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.100 None 1.000 14 2011 2019
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 14 15 0.100 None 0.909 11 1995 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.100 None 0.900 10 2002 2019
CUI: C0023380
Disease: Lethargy
Lethargy
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom 160 6 0.100 None 0
CUI: C1855106
Disease: Neonatal onset
Neonatal onset
phenotype Finding 27 0.100 None 0
CUI: C1839541
Disease: Episodic ammonia intoxication
Episodic ammonia intoxication
phenotype Finding 4 0.100 None 0
CUI: C1839533
Disease: Hyperglutaminemia
Hyperglutaminemia
phenotype Finding 5 0.100 None 0