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: 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: C3899844
Disease: C4 Deficiency
C4 Deficiency
disease Disease or Syndrome 5 0.010 None 1.000 1 1977 1977
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: C0238669
Disease: Aortic root dilatation
Aortic root dilatation
disease Cardiovascular Diseases Anatomical Abnormality 15 0.010 None 1.000 1 2012 2012
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
Encephalomyelitis, Acute Disseminated
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 24 0.010 None 1.000 1 2004 2004
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: C0007384
Disease: Cataplexy
Cataplexy
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 36 5 0.010 None 1.000 1 1986 1986
Selective immunoglobulin A deficiency
disease Disease or Syndrome 45 23 0.010 None < 0.001 1 1992 1992
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: C0029134
Disease: Optic Neuritis
Optic Neuritis
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 79 4 0.020 None 1.000 2 1994 1996
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: C0035920
Disease: Rubella
Rubella
disease Infections Disease or Syndrome 82 11 0.010 None 1.000 1 1977 1977
CUI: C0020517
Disease: Hypersensitivity
Hypersensitivity
group Immune System Diseases Pathologic Function 90 2 0.300 None 1.000 1 1996 1996
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: 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: 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: 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
Child Development Disorders, Pervasive
group Mental Disorders Mental or Behavioral Dysfunction 168 379 0.100 None 1.000 1 19 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: 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: 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: C1527304
Disease: Allergic Reaction
Allergic Reaction
phenotype Immune System Diseases Pathologic Function 197 1019 0.300 None 1.000 1 1996 1996
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: 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