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: C4743983
Disease: Advanced Cutaneous Melanoma of the Extremity
Advanced Cutaneous Melanoma of the Extremity 		disease Neoplastic Process 2 0.010 None 1.000 1 2011 2011
CUI: C3888506
Disease: LDLR mutation
LDLR mutation 		disease Congenital Abnormality 10 21 0.010 None 1.000 1 2013 2013
CUI: C0221253
Disease: Xanthoma tendinosum
Xanthoma tendinosum 		disease Nutritional and Metabolic Diseases Disease or Syndrome 15 22 0.010 None 1.000 1 2013 2013
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 23 72 0.010 None 1.000 1 2014 2014
CUI: C4048195
Disease: Autosomal dominant hypocalcemia
Autosomal dominant hypocalcemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 29 9 0.040 None 1.000 4 2015 2020
CUI: C0747548
Disease: Pharyngeal Carcinoma
Pharyngeal Carcinoma 		disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 30 7 0.010 None < 0.001 1 2001 2001
CUI: C0153405
Disease: Malignant neoplasm of pharynx
Malignant neoplasm of pharynx 		disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 37 9 0.010 None < 0.001 1 2001 2001
CUI: C0006849
Disease: Oral candidiasis
Oral candidiasis 		disease Infections; Stomatognathic Diseases Disease or Syndrome 58 2 0.010 None 1.000 1 2011 2011
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 64 76 0.010 None 1.000 1 2011 2011
CUI: C1332347
Disease: Atypical Ductal Breast Hyperplasia
Atypical Ductal Breast Hyperplasia 		disease Neoplasms Neoplastic Process 80 17 0.020 None 1.000 2 2013 2016
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		disease Endocrine System Diseases Disease or Syndrome 92 15 0.010 None 1.000 1 2019 2019
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 94 13 0.010 None 1.000 1 2015 2015
CUI: C0038580
Disease: Substance Dependence
Substance Dependence 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 156 19 0.010 None 1.000 1 2010 2010
CUI: C0085409
Disease: Polyendocrinopathies, Autoimmune
Polyendocrinopathies, Autoimmune 		group Immune System Diseases; Endocrine System Diseases Disease or Syndrome 166 21 0.010 None 1.000 1 2011 2011
CUI: C0877008
Disease: Enzyme inhibition disorder
Enzyme inhibition disorder 		phenotype Disease or Syndrome 171 1 0.010 None 1.000 1 2007 2007
CUI: C0023896
Disease: Alcoholic Liver Diseases
Alcoholic Liver Diseases 		group Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 195 20 0.010 None 1.000 1 2010 2010
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 201 661 0.010 None 1.000 1 2014 2014
CUI: C0001956
Disease: Alcohol Use Disorder
Alcohol Use Disorder 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 218 54 0.010 None 1.000 1 2017 2017
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 340 169 0.010 None 1.000 1 2018 2018
CUI: C0086692
Disease: Benign Neoplasm
Benign Neoplasm 		group Neoplasms Neoplastic Process 371 7 0.010 None 1.000 1 2009 2009
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease Digestive System Diseases Disease or Syndrome 420 15 0.010 None 1.000 1 2020 2020
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
Nonalcoholic Steatohepatitis 		disease Digestive System Diseases Disease or Syndrome 434 17 0.300 None 1.000 1 2018 2018
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease 		phenotype Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 537 29 0.010 None < 0.001 1 2020 2020
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 577 441 0.330 None 1.000 5 1999 2013
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		disease Neoplasms Neoplastic Process 615 39 0.010 None 1.000 1 2011 2011