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.
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.310 None 1.000 1 2017 2017
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD)
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 260 95 0.300 None 1.000 1 2017 2017
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 99 0.300 None 1.000 1 2017 2017
CUI: C0020517
Disease: Hypersensitivity
Hypersensitivity
group Immune System Diseases Pathologic Function 90 2 0.300 None 1.000 1 1996 1996
CUI: C0750900
Disease: Alzheimer's Disease, Focal Onset
Alzheimer's Disease, Focal Onset
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 99 0.300 None 1.000 1 2017 2017
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 174 96 0.300 None 1.000 1 2017 2017
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 718 159 0.300 None 1.000 1 2017 2017
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction
phenotype Immune System Diseases Pathologic Function 197 1019 0.300 None 1.000 1 1996 1996
Child Development Disorders, Pervasive
group Mental Disorders Mental or Behavioral Dysfunction 168 379 0.100 None 1.000 1 19 2017 2017
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 2 2018 2018
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
disease Infections Disease or Syndrome 1256 328 0.100 None 1.000 1 1 2017 2017
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: 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: 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: C0238669
Disease: Aortic root dilatation
Aortic root dilatation
disease Cardiovascular Diseases Anatomical Abnormality 15 0.010 None 1.000 1 2012 2012
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 403 96 0.010 None 1.000 1 2018 2018
CUI: C0151450
Disease: Secondary Sjögren's syndrome
Secondary Sjögren's syndrome
disease Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome 20 0.010 None 1.000 1 1981 1981
Idiopathic Membranous Glomerulonephritis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 79 13 0.010 None 1.000 1 1992 1992
CUI: C0040100
Disease: Thymoma
Thymoma
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 291 20 0.010 None 1.000 1 1990 1990
Selective immunoglobulin A deficiency
disease Disease or Syndrome 45 23 0.010 None < 0.001 1 1992 1992
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: C1720983
Disease: Channelopathies
Channelopathies
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 94 8 0.010 None 1.000 1 2016 2016
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: C1318973
Disease: Staphylococcus aureus infection
Staphylococcus aureus infection
disease Infections Disease or Syndrome 49 4 0.010 None 1.000 1 2018 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 1978 1978