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: C1838659
Disease: Deformed rib cage
Deformed rib cage 		phenotype Anatomical Abnormality 4 0.100 None 0
CUI: C4023801
Disease: Fibular bowing
Fibular bowing 		disease Musculoskeletal Diseases Anatomical Abnormality 9 2 0.100 None 0
CUI: C4476534
Disease: Subperiosteal bone resorption
Subperiosteal bone resorption 		phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C1384583
Disease: Congenital absence of germinal epithelium of testes
Congenital absence of germinal epithelium of testes 		disease Male Urogenital Diseases Congenital Abnormality 82 6 0.010 None 1.000 1 2011 2011
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 321 22 0.100 None 0
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 153 37 0.100 None 0.929 14 6 2012 2019
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.060 None 1.000 6 3 2007 2019
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.060 None 1.000 6 1 2010 2018
CUI: C1838657
Disease: Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Vitamin D Hydroxylation-Deficient Rickets, Type 1B 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 2 1 0.730 None 1.000 6 1 2004 2017
CUI: C0004096
Disease: Asthma
Asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.050 None 1.000 5 3 2009 2017
CUI: C0035579
Disease: Rickets
Rickets 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 72 16 0.150 None 1.000 5 3 2012 2017
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		disease Digestive System Diseases; Infections Disease or Syndrome 1768 347 0.030 None 0.667 3 5 2013 2019
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.020 None 1.000 2 2 2014 2015
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.020 None 1.000 2 4 2014 2018
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.020 None 1.000 2 2 2015 2018
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1179 64 0.310 None 1.000 2 2013 2014
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.010 None 1.000 1 2014 2014
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.010 None 1.000 1 2016 2016
CUI: C0005944
Disease: Metabolic Bone Disorder
Metabolic Bone Disorder 		group Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 66 1 0.300 None 1.000 1 2014 2014
CUI: C0008149
Disease: Chlamydia Infections
Chlamydia Infections 		group Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 88 10 0.010 None 1.000 1 2 2016 2016
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.010 None 1.000 1 2 2014 2014
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.010 None 1.000 1 1 2019 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.010 None 1.000 1 1 2019 2019
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1189 238 0.010 None 1.000 1 2010 2010