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: C0740476
Disease: Biliary carcinoma
Biliary carcinoma 		disease Neoplastic Process 1 0.010 None 1.000 1 2017 2017
CUI: C4225301
Disease: OSTEOGENESIS IMPERFECTA, TYPE XVII
OSTEOGENESIS IMPERFECTA, TYPE XVII 		disease Disease or Syndrome 1 2 0.700 None 1.000 1 2 2015 2015
CUI: C0423689
Disease: Low Back Pain, Posterior Compartment
Low Back Pain, Posterior Compartment 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 2 0.300 None 1.000 1 2011 2011
CUI: C0577660
Disease: Low Back Pain, Postural
Low Back Pain, Postural 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 2 0.300 None 1.000 1 2011 2011
CUI: C0751648
Disease: Recurrent Low Back Pain
Recurrent Low Back Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 2 0.300 None 1.000 1 2011 2011
CUI: C1850160
Disease: Thin metacarpal cortices
Thin metacarpal cortices 		phenotype Finding 2 0.100 None 0
CUI: C0018245
Disease: Groenouw's Dystrophies
Groenouw's Dystrophies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 3 0.010 None 1.000 1 1996 1996
CUI: C0423682
Disease: Low Back Pain, Mechanical
Low Back Pain, Mechanical 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 3 0.300 None 1.000 1 2011 2011
CUI: C0796275
Disease: Brunner Syndrome
Brunner Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 3 5 0.010 None 1.000 1 2019 2019
CUI: C0887866
Disease: Monckeberg Medial Calcific Sclerosis
Monckeberg Medial Calcific Sclerosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 5 0.010 None 1.000 1 1999 1999
CUI: C0017567
Disease: Gingival Hypertrophy
Gingival Hypertrophy 		disease Stomatognathic Diseases Disease or Syndrome 7 0.010 None 1.000 1 2007 2007
CUI: C0278827
Disease: Bladder cancer recurrent
Bladder cancer recurrent 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 7 0.010 None 1.000 1 2019 2019
CUI: C0599973
Disease: Waardenburg Anophthalmia Syndrome
Waardenburg Anophthalmia Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 8 10 0.010 None 1.000 1 2011 2011
CUI: C4688318
Disease: Refractory Colorectal Carcinoma
Refractory Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 9 2 0.010 None 1.000 1 2007 2007
CUI: C0158447
Disease: Idiopathic osteoporosis
Idiopathic osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 10 0.010 None 1.000 1 2008 2008
CUI: C0740418
Disease: Chronic back pain
Chronic back pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 10 0.010 None 1.000 1 2011 2011
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		disease Disease or Syndrome; Congenital Abnormality 12 65 0.300 None 1.000 1 2015 2015
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 13 257 0.300 None 1.000 1 1991 1991
CUI: C0279622
Disease: Small cell osteosarcoma
Small cell osteosarcoma 		disease Neoplasms Neoplastic Process 13 0.010 None 1.000 1 1992 1992
CUI: C0028432
Disease: Nose Diseases
Nose Diseases 		group Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 14 0.010 None 1.000 1 2015 2015
CUI: C0155164
Disease: Conjunctival scar
Conjunctival scar 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases Acquired Abnormality 14 0.010 None 1.000 1 2018 2018
CUI: C0278619
Disease: Extramedullary Plasmacytoma
Extramedullary Plasmacytoma 		disease Neoplasms; Immune System Diseases Neoplastic Process 15 0.010 None 1.000 1 2003 2003
CUI: C0282607
Disease: Vascular Neoplasms
Vascular Neoplasms 		group Neoplasms; Cardiovascular Diseases Neoplastic Process 15 0.010 None 1.000 1 2018 2018
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 19 16 0.010 None 1.000 1 2007 2007
CUI: C4042861
Disease: Obesity, Metabolically Benign
Obesity, Metabolically Benign 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Sign or Symptom 19 8 0.010 None 1.000 1 2018 2018