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 Mental Disorders; Nervous System Diseases Disease or Syndrome 1981 1062 0.050 1.000 5 2004 2017
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 744 41 0.030 1.000 3 2004 2011
Diabetes Mellitus, Insulin-Dependent
disease Endocrine System Diseases; Immune System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 955 775 0.020 1.000 2 2000 2003
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group Cardiovascular Diseases; Nervous System Diseases Disease or Syndrome 767 331 0.010 1.000 1 2007 2007
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 196 246 0.010 1.000 1 2012 2012
CUI: C0206716
Disease: Ganglioglioma
Ganglioglioma
disease Neoplasms Neoplastic Process 60 2 0.010 1.000 1 2004 2004
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 76 77 0.010 1.000 1 2006 2006
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid
disease Endocrine System Diseases; Neoplasms Neoplastic Process 238 56 0.010 1.000 1 2007 2007
CUI: C0333186
Disease: Restenosis
Restenosis
phenotype Pathologic Function 214 26 0.010 1.000 1 2002 2002
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
disease Neoplastic Process 1041 61 0.010 1.000 1 2010 2010
CUI: C1848199
Disease: X-Linked Lissencephaly
X-Linked Lissencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 14 24 0.010 1.000 1 2000 2000
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss
phenotype Sign or Symptom 63 6 0.010 1.000 1 2005 2005
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 1922 1782 0.010 1.000 1 2011 2011
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
disease Neoplasms Neoplastic Process 1102 74 0.010 1.000 1 2010 2010
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 832 120 0.010 1.000 1 2012 2012
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
disease Neoplasms Neoplastic Process 740 44 0.010 1.000 1 2001 2001
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
disease Digestive System Diseases; Virus Diseases Disease or Syndrome 838 192 0.010 1.000 1 1986 1986
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease Immune System Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1112 674 0.010 1.000 1 2000 2000
CUI: C0024198
Disease: Lyme Disease
Lyme Disease
disease Bacterial Infections and Mycoses Disease or Syndrome 129 3 0.010 1.000 1 1997 1997
CUI: C0024530
Disease: Malaria
Malaria
disease Parasitic Diseases Disease or Syndrome 468 107 0.010 1.000 1 2010 2010
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 2453 389 0.010 1.000 1 1998 1998
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Mental or Behavioral Dysfunction 1157 29 0.010 1.000 1 2016 2016
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy
disease Nervous System Diseases Disease or Syndrome 195 15 0.010 1.000 1 2015 2015
CUI: C0026918
Disease: Mycobacterium Infections
Mycobacterium Infections
group Bacterial Infections and Mycoses Disease or Syndrome 97 4 0.010 1.000 1 2018 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.010 1.000 1 2016 2016