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: C0233514
Disease: Abnormal behavior
Abnormal behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.010 None 1.000 1 2019 2019
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1293 222 0.010 None 1.000 1 2018 2018
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: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 468 81 0.010 None 1.000 1 2008 2008
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		disease Neoplastic Process 860 154 0.010 None 1.000 1 2018 2018
CUI: C0279544
Disease: Adult Alveolar Soft Part Sarcoma
Adult Alveolar Soft Part Sarcoma 		disease Neoplasms Neoplastic Process 30 0.010 None 1.000 1 2016 2016
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		disease Neoplasms Neoplastic Process 2528 98 0.010 None 1.000 1 2013 2013
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1169 66 0.010 None 1.000 1 2012 2012
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		disease Neoplasms Neoplastic Process 762 24 0.010 None 1.000 1 1994 1994
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: 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: C0002064
Disease: Alkalosis, Respiratory
Alkalosis, Respiratory 		phenotype Nutritional and Metabolic Diseases; Respiratory Tract Diseases Pathologic Function 6 0.100 None 0
CUI: C0206657
Disease: Alveolar Soft Part Sarcoma
Alveolar Soft Part Sarcoma 		disease Neoplasms Neoplastic Process 61 0.010 None 1.000 1 2016 2016
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 434 138 0.010 None 1.000 1 1 2016 2016
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1410 80 0.010 None 1.000 1 2017 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: 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: 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: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 2019 2019
CUI: C0003864
Disease: Arthritis
Arthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1072 69 0.010 None 1.000 1 2003 2003
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.100 None 0
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None 1.000 1 2019 2019
CUI: C2895206
Disease: Autoimmune disease (systemic) NOS
Autoimmune disease (systemic) NOS 		disease Disease or Syndrome 37 3 0.010 None 1.000 1 1992 1992
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1408 42 0.010 None 1.000 1 2017 2017
CUI: C0004623
Disease: Bacterial Infections
Bacterial Infections 		group Infections Disease or Syndrome 616 17 0.010 None 1.000 1 2011 2011