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: C0751751
Disease: Argininosuccinic Acid Synthetase Deficiency, Complete
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: C0751750
Disease: Argininosuccinic Acid Synthetase Deficiency Disease, Partial
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: C4016834
Disease: CITRULLINEMIA, MILD
CITRULLINEMIA, MILD 		disease Finding 1 2 0.100 None 0 2
CUI: C1839541
Disease: Episodic ammonia intoxication
Episodic ammonia intoxication 		phenotype Finding 4 0.100 None 0
CUI: C4025095
Disease: Hypoargininemia
Hypoargininemia 		phenotype Finding 4 0.100 None 0
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
CUI: C0393615
Disease: Familial Tremor
Familial Tremor 		disease Nervous System Diseases Disease or Syndrome 5 1 0.010 None 1.000 1 1993 1993
CUI: C1839531
Disease: Protein avoidance
Protein avoidance 		phenotype Finding 5 1 0.100 None 0
CUI: C1839533
Disease: Hyperglutaminemia
Hyperglutaminemia 		phenotype Finding 5 0.100 None 0
CUI: C0002064
Disease: Alkalosis, Respiratory
Alkalosis, Respiratory 		phenotype Nutritional and Metabolic Diseases; Respiratory Tract Diseases Pathologic Function 6 0.100 None 0
CUI: C0268128
Disease: Orotic aciduria
Orotic aciduria 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Finding 6 2 0.100 None 0
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: 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 0.020 None 1.000 2 1981 2019
CUI: C0279765
Disease: Endometrial Clear Cell Adenocarcinoma
Endometrial Clear Cell Adenocarcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 10 0.010 None 1.000 1 2019 2019
CUI: C4684861
Disease: Recurrent Malignant Glioma
Recurrent Malignant Glioma 		disease Neoplasms Neoplastic Process 13 0.010 None 1.000 1 2019 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: 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 2010 2019
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 16 46 0.010 None 1.000 1 1994 1994
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 21 8 0.010 None 1.000 1 1994 1994
CUI: C3888090
Disease: Early onset torsion dystonia
Early onset torsion dystonia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 22 1 0.020 None 1.000 2 1994 2004
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: C0013423
Disease: Dystonia Musculorum Deformans
Dystonia Musculorum Deformans 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 26 1 0.010 None 1.000 1 1993 1993
CUI: C0006114
Disease: Cerebral Edema
Cerebral Edema 		phenotype Nervous System Diseases Pathologic Function 26 0.100 None 0
CUI: C2931826
Disease: Potassium aggravated myotonia
Potassium aggravated myotonia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 27 18 0.010 None 1.000 1 2018 2018
CUI: C1855106
Disease: Neonatal onset
Neonatal onset 		phenotype Finding 27 0.100 None 0