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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.010 None 1.000 1 1978 1978
CUI: C0521585
Disease: Gastrointestinal mucositis
Gastrointestinal mucositis
disease Digestive System Diseases; Stomatognathic Diseases Disease or Syndrome 98 19 0.010 None 1.000 1 2017 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.010 None 1.000 1 2011 2011
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
disease Digestive System Diseases Disease or Syndrome 264 58 0.010 None 1.000 1 1994 1994
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2011 2011
Selective immunoglobulin A deficiency
disease Disease or Syndrome 45 23 0.010 None < 0.001 1 1992 1992
CUI: C3899844
Disease: C4 Deficiency
C4 Deficiency
disease Disease or Syndrome 5 0.010 None 1.000 1 1977 1977
CUI: C3714757
Disease: Juvenile rheumatoid arthritis
Juvenile rheumatoid arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 183 10 0.010 None 1.000 1 1985 1985
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 450 128 0.010 None 1.000 1 1985 1985
CUI: C3150275
Disease: COMPLEMENT COMPONENT 2 DEFICIENCY
COMPLEMENT COMPONENT 2 DEFICIENCY
disease Disease or Syndrome 11 4 0.010 None 1.000 1 1982 1982
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 1978 1978
CUI: C1318973
Disease: Staphylococcus aureus infection
Staphylococcus aureus infection
disease Infections Disease or Syndrome 49 4 0.010 None 1.000 1 2018 2018
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 360 38 0.010 None 1.000 1 1989 1989
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.010 None 1.000 1 2017 2017
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 424 28 0.010 None 1.000 1 1981 1981
CUI: C4543926
Disease: Narcolepsy type 1
Narcolepsy type 1
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 35 0.010 None 1.000 1 2019 2019
CUI: C0333307
Disease: Superficial ulcer
Superficial ulcer
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 242 10 0.010 None 1.000 1 1986 1986
CUI: C0238669
Disease: Aortic root dilatation
Aortic root dilatation
disease Cardiovascular Diseases Anatomical Abnormality 15 0.010 None 1.000 1 2012 2012
CUI: C0011644
Disease: Scleroderma
Scleroderma
disease Skin and Connective Tissue Diseases Disease or Syndrome 316 5 0.010 None 1.000 1 2012 2012
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 1740 865 0.010 None 1.000 1 2017 2017
CUI: C0026269
Disease: Mitral Valve Stenosis
Mitral Valve Stenosis
disease Cardiovascular Diseases Disease or Syndrome 170 7 0.010 None 1.000 1 1983 1983
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
group Digestive System Diseases Disease or Syndrome 1577 605 0.010 None 1.000 1 2018 2018
CUI: C0020524
Disease: Disorders of Excessive Somnolence
Disorders of Excessive Somnolence
group Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 2 0.010 None 1.000 1 1986 1986
CUI: C0014070
Disease: Encephalomyelitis
Encephalomyelitis
disease Infections; Nervous System Diseases Disease or Syndrome 865 7 0.010 None 1.000 1 2008 2008
Encephalomyelitis, Acute Disseminated
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 24 0.010 None 1.000 1 2004 2004