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.
Glutamate formiminotransferase deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 5 0.730 None 1.000 5 5 2003 2019
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma
disease Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 556 13 0.300 None 1.000 1 2012 2012
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0.300 None 1.000 1 2014 2014
CUI: C4721444
Disease: Burkitt Leukemia
Burkitt Leukemia
disease Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 45 0.300 None 1.000 1 2012 2012
CUI: C0343640
Disease: African Burkitt's lymphoma
African Burkitt's lymphoma
disease Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 36 5 0.300 None 1.000 1 2012 2012
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease Eye Diseases Disease or Syndrome 685 663 0.100 None 1.000 1 1 2019 2019
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 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay
phenotype Pathologic Function 244 40 0.100 None 0
Hypersegmentation of neutrophil nuclei
disease Finding 1 0.100 None 0
CUI: C4025589
Disease: Positive ferric chloride test
Positive ferric chloride test
phenotype Finding 1 0.100 None 0
CUI: C0002888
Disease: Anemia, Megaloblastic
Anemia, Megaloblastic
disease Hemic and Lymphatic Diseases Disease or Syndrome 26 2 0.100 None 0
CUI: C0238621
Disease: Aminoaciduria
Aminoaciduria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 68 1 0.100 None 0
CUI: C0241910
Disease: Autoimmune Chronic Hepatitis
Autoimmune Chronic Hepatitis
disease Digestive System Diseases; Immune System Diseases Disease or Syndrome 213 23 0.040 None 1.000 4 1999 2016
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis
disease Digestive System Diseases Disease or Syndrome 190 22 0.040 None 1.000 4 1999 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.040 None 1.000 4 2007 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.020 None 1.000 2 2008 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2019 2019
CUI: C0851887
Disease: Adenoviral infections
Adenoviral infections
group Disease or Syndrome 78 1 0.010 None 1.000 1 2013 2013
CUI: C0333980
Disease: Focal Nodular Hyperplasia
Focal Nodular Hyperplasia
disease Digestive System Diseases Disease or Syndrome 21 0.010 None 1.000 1 2008 2008
Inherited disorder of folate metabolism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C0028259
Disease: Nodule
Nodule
phenotype Acquired Abnormality 278 19 0.010 None 1.000 1 2008 2008
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 170 178 0.010 None 1.000 1 2015 2015
CUI: C4732730
Disease: Blood spots
Blood spots
disease Disease or Syndrome 117 0.010 None 1.000 1 2019 2019