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: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		disease Digestive System Diseases Disease or Syndrome 1058 222 0.300 None 1.000 1 2018 2018
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: 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: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2509 386 0.010 None 1.000 1 2012 2012
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: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2053 329 0.010 None 1.000 1 2018 2018
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: C0178874
Disease: Tumor Progression
Tumor Progression 		phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.010 None 1.000 1 2008 2008
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: C0086692
Disease: Benign Neoplasm
Benign Neoplasm 		group Neoplasms Neoplastic Process 371 7 0.010 None 1.000 1 2009 2009
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 1224 129 0.010 None 1.000 1 2011 2011
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.010 None 1.000 1 2012 2012
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: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2841 327 0.010 None 1.000 1 2011 2011
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.010 None 1.000 1 2012 2012
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		disease Neoplasms Neoplastic Process 615 39 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: 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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2017 2017
CUI: C0877008
Disease: Enzyme inhibition disorder
Enzyme inhibition disorder 		phenotype Disease or Syndrome 171 1 0.010 None 1.000 1 2007 2007
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: 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: 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: C0019196
Disease: Hepatitis C
Hepatitis C 		disease Digestive System Diseases; Infections Disease or Syndrome 1768 347 0.010 None 1.000 1 2018 2018
CUI: C0015967
Disease: Fever
Fever 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1021 66 0.010 None 1.000 1 2018 2018