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.
Congenital contractural arachnodactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 559 48 0.010 None 1.000 1 2018 2018
Diabetes Mellitus, Insulin-Dependent
disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.040 None 0.750 4 1 2000 2019
CUI: C0011847
Disease: Diabetes
Diabetes
disease Endocrine System Diseases Disease or Syndrome 2359 710 0.020 None 0.500 2 2002 2004
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.020 None 0.500 2 2002 2004
CUI: C0019693
Disease: HIV Infections
HIV Infections
group Infections; Immune System Diseases Disease or Syndrome 807 142 0.210 None 1.000 2 2003 2006
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 86 11 0.310 strong 1.000 2 2001 2012
Human immunodeficiency virus (HIV) II infection category B1
disease Disease or Syndrome 985 56 0.020 None 1.000 2 1989 2009
CUI: C4014233
Disease: IMMUNODEFICIENCY 22
IMMUNODEFICIENCY 22
disease Disease or Syndrome 1 1 0.700 strong 1.000 2 1 2001 2012
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.010 None 1.000 1 2005 2005
CUI: C0002871
Disease: Anemia
Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.010 None 1.000 1 2012 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.010 None 1.000 1 2017 2017
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency
disease Immune System Diseases Disease or Syndrome 207 85 0.010 None 1.000 1 2001 2001
CUI: C0009766
Disease: Allergic Conjunctivitis
Allergic Conjunctivitis
disease Eye Diseases; Immune System Diseases Disease or Syndrome 38 2 0.200 None 1.000 1 2003 2003
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1189 238 0.010 None 1.000 1 2019 2019
CUI: C0018799
Disease: Heart Diseases
Heart Diseases
group Cardiovascular Diseases Disease or Syndrome 537 45 0.010 None 1.000 1 2000 2000
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
disease Digestive System Diseases; Infections Disease or Syndrome 1768 347 0.010 None 1.000 1 2004 2004
CUI: C0023290
Disease: Leishmaniasis, Visceral
Leishmaniasis, Visceral
disease Infections Disease or Syndrome 197 22 0.010 None 1.000 1 2017 2017
CUI: C0024115
Disease: Lung diseases
Lung diseases
group Respiratory Tract Diseases Disease or Syndrome 700 50 0.010 None 1.000 1 2007 2007
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.010 None 1.000 1 2001 2001
CUI: C0024312
Disease: Lymphopenia
Lymphopenia
disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 239 16 0.010 None 1.000 1 2001 2001
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 284 46 0.010 None 1.000 1 1998 1998
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 254 56 0.010 None 1.000 1 1994 1994
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome
disease Nutritional and Metabolic Diseases Disease or Syndrome 94 144 0.010 None 1.000 1 2008 2008
CUI: C1290386
Disease: Chronic heart disease
Chronic heart disease
group Cardiovascular Diseases Disease or Syndrome 5 0.010 None 1.000 1 2000 2000
CUI: C1402294
Disease: Primary Lesion
Primary Lesion
phenotype Disease or Syndrome 71 8 0.010 None 1.000 1 1996 1996