ARG1, arginase 1, 383

N. diseases: 273; N. variants: 47
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: C0431603
Disease: Ectopic liver
Ectopic liver
disease Congenital Abnormality 1 0.010 None < 0.001 1 2019 2019
CUI: C4024698
Disease: Diaminoaciduria
Diaminoaciduria
disease Disease or Syndrome 1 0.100 None 0
CUI: C0018949
Disease: Hematomyelia
Hematomyelia
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C0021833
Disease: Intestinal Fistula
Intestinal Fistula
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Anatomical Abnormality 2 0.200 None 1.000 1 2003 2003
CUI: C0241266
Disease: Subcutaneous Abscess
Subcutaneous Abscess
disease Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
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: C0270780
Disease: Degenerative myelopathy
Degenerative myelopathy
disease Nervous System Diseases Disease or Syndrome 7 0.010 None 1.000 1 2018 2018
CUI: C1266090
Disease: Hepatoid adenocarcinoma
Hepatoid adenocarcinoma
disease Neoplasms Neoplastic Process 7 0.010 None 1.000 1 2016 2016
CUI: C4755308
Disease: Familial cervical artery dissection
Familial cervical artery dissection
disease Disease or Syndrome 9 2 0.010 None 1.000 1 2019 2019
CUI: C1291077
Disease: Abdominal bloating
Abdominal bloating
phenotype Digestive System Diseases Sign or Symptom 10 0.010 None 1.000 1 2019 2019
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 1.000 definitive 1.000 37 25 1944 2020
CUI: C0020440
Disease: Hypercapnia
Hypercapnia
phenotype Pathological Conditions, Signs and Symptoms Finding 11 0.200 None 1.000 1 2009 2009
CUI: C1859736
Disease: Progressive spastic quadriplegia
Progressive spastic quadriplegia
phenotype Finding 12 2 0.100 None 0
Amino Acid Metabolism, Inherited Disorders
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 13 0.300 None 1.000 1 2011 2011
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 0.070 None 1.000 7 2008 2018
Pulmonary Fibrosis - from Asbestos Exposure
disease Respiratory Tract Diseases; Occupational Diseases Disease or Syndrome 14 0.300 None 1.000 1 2016 2016
CUI: C4020848
Disease: Aneurysmal disease
Aneurysmal disease
disease Disease or Syndrome 14 0.010 None 1.000 1 2019 2019
CUI: C0018500
Disease: Hair Diseases
Hair Diseases
group Skin and Connective Tissue Diseases Disease or Syndrome 17 2 0.300 None 1.000 1 2011 2011
CUI: C0206752
Disease: Alphavirus Infections
Alphavirus Infections
group Infections Disease or Syndrome 19 0.010 None 1.000 1 2012 2012
CUI: C0678128
Disease: Friend leukemia
Friend leukemia
disease Neoplasms Neoplastic Process 19 0.010 None 1.000 1 2018 2018
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 19 0.010 None 1.000 1 2015 2015
Amino Acid Metabolism, Inborn Errors
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 20 0.300 None 1.000 1 2011 2011
CUI: C1281914
Disease: Corneal allograft rejection
Corneal allograft rejection
disease Disease or Syndrome 21 3 0.010 None 1.000 1 2018 2018
CUI: C0085311
Disease: Diffuse cutaneous leishmaniasis
Diffuse cutaneous leishmaniasis
disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 22 0.010 None 1.000 1 2015 2015
CUI: C0266258
Disease: Congenital absence of liver
Congenital absence of liver
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 25 2 0.010 None 1.000 1 2017 2017