Source: CURATED ×
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.
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
disease Disease or Syndrome 1 142 0.700 strong 1.000 3 12 2014 2017
CUI: C0033141
Disease: Cardiomyopathies, Primary
Cardiomyopathies, Primary
group Cardiovascular Diseases Disease or Syndrome 69 1 0.300 None 1.000 2 2000 2014
CUI: C0036529
Disease: Myocardial Diseases, Secondary
Myocardial Diseases, Secondary
group Cardiovascular Diseases Disease or Syndrome 69 0.300 None 1.000 2 2000 2014
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 130 172 0.340 None 1.000 2 2000 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 59 11 0.400 None 1.000 1 2007 2019
CUI: C1563937
Disease: Atherogenesis
Atherogenesis
phenotype Cardiovascular Diseases Pathologic Function 59 0.300 None 1.000 1 2008 2008
CUI: C1876165
Disease: Copper-Overload Cirrhosis
Copper-Overload Cirrhosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 11 0.300 None 1.000 1 2012 2012
Neutropenia and hyperlymphocytosis with large granular lymphocytes
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.300 None 1.000 2 2016 2018
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 14 0.630 strong 1.000 7 14 2007 2018
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 3 0.800 None 0.981 3 2007 2020
CUI: C3887645
Disease: Job Syndrome
Job Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 4 10 0.800 strong 1.000 3 10 2007 2019
Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.500 None 1.000 2 2007 2007
Hyper-Immunoglobulin E Syndrome, Autosomal Recessive
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 3 0.550 None 1.000 1 2011 2019
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 25 13 0.320 strong 1.000 1 2015 2017
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
disease Digestive System Diseases Disease or Syndrome 63 475 0.500 None 1.000 2 1 2008 2018
CUI: C0019189
Disease: Hepatitis, Chronic
Hepatitis, Chronic
disease Digestive System Diseases Disease or Syndrome 22 0.310 None 1.000 1 2003 2012
CUI: C0149519
Disease: Chronic Persistent Hepatitis
Chronic Persistent Hepatitis
disease Digestive System Diseases Disease or Syndrome 22 0.300 None 1.000 1 2012 2012
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis
disease Digestive System Diseases Disease or Syndrome 22 0.300 None 1.000 1 2012 2012
CUI: C0524611
Disease: Cryptogenic Chronic Hepatitis
Cryptogenic Chronic Hepatitis
disease Digestive System Diseases Disease or Syndrome 22 0.300 None 1.000 1 2012 2012
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
disease Digestive System Diseases Disease or Syndrome 50 792 0.500 strong 0.969 0 4 2008 2019
CUI: C0019207
Disease: Hepatoma, Morris
Hepatoma, Morris
disease Digestive System Diseases; Neoplasms Neoplastic Process; Experimental Model of Disease 110 0.300 None 1.000 2 2015 2017
CUI: C0019208
Disease: Hepatoma, Novikoff
Hepatoma, Novikoff
disease Digestive System Diseases; Neoplasms Neoplastic Process; Experimental Model of Disease 110 0.300 None 1.000 2 2015 2017
CUI: C0023904
Disease: Liver Neoplasms, Experimental
Liver Neoplasms, Experimental
phenotype Digestive System Diseases; Neoplasms Neoplastic Process; Experimental Model of Disease 110 0.300 None 1.000 2 2015 2017
CUI: C0086404
Disease: Experimental Hepatoma
Experimental Hepatoma
disease Digestive System Diseases; Neoplasms Neoplastic Process; Experimental Model of Disease 110 0.300 None 1.000 2 2015 2017
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 159 416 0.400 None 0.978 1 2005 2019