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: C0019348
Disease: Herpes Simplex Infections
Herpes Simplex Infections
group Skin and Connective Tissue Diseases; Virus Diseases Disease or Syndrome 502 6 0.040 1.000 4 1987 1997
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
disease Neoplasms Neoplastic Process 500 6 0.030 1.000 3 1995 1997
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 659 259 0.030 1.000 3 2013 2015
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 571 436 0.020 1.000 2 2012 2013
CUI: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 1940 76 0.020 1.000 2 1996 2000
CUI: C0007129
Disease: Merkel cell carcinoma
Merkel cell carcinoma
disease Neoplasms; Virus Diseases Neoplastic Process 111 2 0.020 1.000 2 1994 2002
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Neoplastic Process 4064 159 0.020 1.000 2 2009 2018
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 128 293 0.020 1.000 2 2007 2008
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 100 19 0.020 1.000 2 1996 2006
CUI: C0010823
Disease: Cytomegalovirus Infections
Cytomegalovirus Infections
group Virus Diseases Disease or Syndrome 269 7 0.020 1.000 2 1989 2011
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3592 419 0.020 1.000 2 2004 2013
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 407 7 0.020 1.000 2 1990 1994
CUI: C1512409
Disease: Hepatocarcinogenesis
Hepatocarcinogenesis
disease Neoplastic Process 526 11 0.020 1.000 2 2003 2014
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 744 41 0.010 1.000 1 2012 2012
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 708 59 0.010 1.000 1 2015 2015
Idiopathic pulmonary arterial hypertension
disease Respiratory Tract Diseases Disease or Syndrome 296 20 0.010 1.000 1 2013 2013
Chronic rejection of renal transplant
disease Disease or Syndrome 39 0.010 1.000 1 2009 2009
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Male Urogenital Diseases; Neoplasms Neoplastic Process 3238 563 0.010 1.000 1 1999 1999
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 215 11 0.010 1.000 1 2010 2010
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 75 18 0.010 1.000 1 1996 1996
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 36 91 0.010 1.000 1 1998 1998
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 606 30 0.010 1.000 1 2001 2001
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
disease Neoplastic Process 1041 61 0.010 1.000 1 2018 2018
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease Neoplastic Process 3144 756 0.010 1.000 1 1999 1999
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
disease Mental Disorders; Nervous System Diseases Disease or Syndrome 132 19 0.010 1.000 1 2009 2009