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: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.010 None 1.000 1 2012 2012
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 10 8 0.010 None 1.000 1 2002 2002
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.010 None 1.000 1 2015 2015
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver
disease Digestive System Diseases; Neoplasms Neoplastic Process 1649 88 0.010 None 1.000 1 2012 2012
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.010 None 1.000 1 2018 2018
Liver and Intrahepatic Biliary Tract Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 1395 73 0.010 None 1.000 1 2012 2012
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy
group Nervous System Diseases Disease or Syndrome 189 17 0.010 None 1.000 1 2011 2011
CUI: C0240066
Disease: Iron deficiency
Iron deficiency
disease Nutritional and Metabolic Diseases Disease or Syndrome 179 13 0.010 None 1.000 1 2018 2018
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 1377 72 0.010 None 1.000 1 2012 2012
CUI: C0206769
Disease: Nevi and Melanomas
Nevi and Melanomas
group Neoplasms Neoplastic Process 30 3 0.010 None 1.000 1 2003 2003
CUI: C0041234
Disease: Chagas Disease
Chagas Disease
disease Infections Disease or Syndrome 202 10 0.010 None 1.000 1 2018 2018
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
disease Neoplasms; Endocrine System Diseases Neoplastic Process 1164 135 0.010 None 1.000 1 2001 2001
CUI: C0036429
Disease: Sclerosis
Sclerosis
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 24 0.010 None 1.000 1 2003 2003
CUI: C0035112
Disease: Reoviridae Infections
Reoviridae Infections
group Infections Disease or Syndrome 38 0.010 None 1.000 1 1984 1984
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
disease Neoplasms Neoplastic Process 2247 151 0.010 None 1.000 1 2012 2012
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.010 None 1.000 1 2015 2015
CUI: C3665593
Disease: Melanocytic nevus of skin
Melanocytic nevus of skin
disease Neoplasms Neoplastic Process 103 3 0.010 None 1.000 1 2003 2003
CUI: C2960129
Disease: Vanishing white matter disease
Vanishing white matter disease
disease Nervous System Diseases Disease or Syndrome 14 4 0.010 None < 0.001 1 2019 2019
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma
disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 1553 320 0.010 None 1.000 1 2016 2016
CUI: C2931689
Disease: Dystrophia myotonica 2
Dystrophia myotonica 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 118 21 0.010 None 1.000 1 2009 2009
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 74 68 0.010 None 1.000 1 2016 2016
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 1143 75 0.010 None 1.000 1 2013 2013
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110 0.010 None 1.000 1 2013 2013
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.010 None < 0.001 1 1995 1995
CUI: C1368683
Disease: Epithelioma
Epithelioma
disease Neoplasms Neoplastic Process 326 2 0.010 None 1.000 1 2003 2003