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.
CUI: C0342418
Disease: Hypothalamic hamartomas
Hypothalamic hamartomas 		disease Neoplasms; Nervous System Diseases Congenital Abnormality 29 0.010 None 1.000 1 2017 2017
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 186 65 0.010 None 1.000 1 2019 2019
CUI: C1739389
Disease: Urachal remnant
Urachal remnant 		disease Congenital Abnormality 1 0.010 None 1.000 1 2018 2018
CUI: C1956261
Disease: Cerebral Venous Angioma
Cerebral Venous Angioma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Cardiovascular Diseases Congenital Abnormality 4 0.010 None 1.000 1 2017 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.100 None 0.985 67 2017 2020
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 413 787 0.100 None 1.000 19 2017 2020
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.100 None 1.000 18 2017 2020
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis 		disease Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 260 78 0.100 None 1.000 15 2017 2019
CUI: C0392077
Disease: Cardiac sarcoidosis
Cardiac sarcoidosis 		disease Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 9 1 0.100 None 0.929 14 2017 2020
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 277 5 0.100 None 1.000 14 2017 2020
CUI: C0014121
Disease: Bacterial Endocarditis
Bacterial Endocarditis 		disease Infections; Cardiovascular Diseases Disease or Syndrome 68 9 0.100 None 0.923 13 2017 2020
CUI: C1541923
Disease: Infective endocarditis
Infective endocarditis 		disease Cardiovascular Diseases Disease or Syndrome 62 9 0.100 None 0.917 12 2017 2020
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.100 None 1.000 10 2017 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.100 None 1.000 10 2017 2019
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		disease Infections Disease or Syndrome 1256 328 0.100 None 1.000 10 2017 2019
CUI: C4087124
Disease: Immunoglobulin G4-Related Disease
Immunoglobulin G4-Related Disease 		disease Immune System Diseases Disease or Syndrome 80 2 0.090 None 0.778 9 2017 2020
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.080 None 1.000 8 2017 2019
CUI: C0042384
Disease: Vasculitis
Vasculitis 		disease Cardiovascular Diseases Disease or Syndrome 294 24 0.080 None 1.000 8 2017 2019
CUI: C0014118
Disease: Endocarditis
Endocarditis 		disease Cardiovascular Diseases Disease or Syndrome 56 0.070 None 1.000 7 2018 2020
CUI: C0027059
Disease: Myocarditis
Myocarditis 		disease Cardiovascular Diseases Disease or Syndrome 285 2 0.070 None 1.000 7 2017 2019
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		disease Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 136 55 0.070 None 1.000 7 2017 2019
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 255 41 0.070 None 1.000 7 2017 2019
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 978 115 0.060 None 1.000 6 2017 2019
CUI: C0032533
Disease: Polymyalgia Rheumatica
Polymyalgia Rheumatica 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 51 7 0.060 None 1.000 6 2017 2019
CUI: C0340359
Disease: Prosthetic valve endocarditis
Prosthetic valve endocarditis 		disease Cardiovascular Diseases Disease or Syndrome 4 0.060 None 0.667 6 2017 2020