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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.070 None 0.571 7 1984 1999
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.060 None 1.000 6 1989 1992
Diabetes Mellitus, Insulin-Dependent
disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.030 None 1.000 3 1984 1991
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.030 None 1.000 3 1992 2000
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 50 62 0.020 None 1.000 2 1986 1986
CUI: C0155765
Disease: Disease of capillaries
Disease of capillaries
group Cardiovascular Diseases Disease or Syndrome 61 5 0.020 None 1.000 2 1985 1986
CUI: C3280642
Disease: Complement Component 4a Deficiency
Complement Component 4a Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 6 0.020 None 1.000 2 2000 2016
CUI: C0033860
Disease: Psoriasis
Psoriasis
disease Skin and Connective Tissue Diseases Disease or Syndrome 1308 705 0.020 None 0.500 2 1989 1991
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency
disease Nutritional and Metabolic Diseases Disease or Syndrome 125 2 0.020 None 1.000 2 2000 2004
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
group Immune System Diseases Disease or Syndrome 1758 428 0.020 None 1.000 2 1984 1994
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 478 667 0.020 None 1.000 2 1987 1994
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
group Immune System Diseases Disease or Syndrome 451 116 0.010 None 1.000 1 1989 1989
Deficiency of steroid 21-monooxygenase
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 54 26 0.010 None 1.000 1 1986 1986
CUI: C0278764
Disease: Adult Burkitt Lymphoma
Adult Burkitt Lymphoma
disease Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 475 7 0.010 None 1.000 1 2013 2013
CUI: C0278879
Disease: Childhood Burkitt Lymphoma
Childhood Burkitt Lymphoma
disease Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 477 7 0.010 None 1.000 1 2013 2013
CUI: C0701807
Disease: Acute anterior uveitis
Acute anterior uveitis
disease Eye Diseases Disease or Syndrome 90 30 0.010 None 1.000 1 1988 1988
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
disease Disease or Syndrome 55 28 0.010 None 1.000 1 1986 1986
CUI: C3150275
Disease: COMPLEMENT COMPONENT 2 DEFICIENCY
COMPLEMENT COMPONENT 2 DEFICIENCY
disease Disease or Syndrome 11 4 0.010 None 1.000 1 1992 1992
CUI: C3280641
Disease: Decreased serum complement C4b
Decreased serum complement C4b
disease Disease or Syndrome 8 0.010 None 1.000 1 2010 2010
CUI: C0221023
Disease: Cyclic neutropenia
Cyclic neutropenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 52 14 0.010 None 1.000 1 1985 1985
Immunoglobulin A deficiency (disorder)
disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 72 25 0.010 None 1.000 1 1989 1989
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma
disease Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 556 13 0.010 None 1.000 1 2013 2013
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.010 None 1.000 1 1985 1985
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
disease Neoplasms; Immune System Diseases; Nervous System Diseases Disease or Syndrome 336 93 0.010 None 1.000 1 1992 1992
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 2078 990 0.010 None 1.000 1 1984 1984