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: C1527349
Disease: Ductal Breast Carcinoma
Ductal Breast Carcinoma 		disease Neoplasms Neoplastic Process 196 10 0.010 None 1.000 1 2014 2014
CUI: C1827700
Disease: Luxation of lens
Luxation of lens 		phenotype Eye Diseases Anatomical Abnormality 7 0.010 None 1.000 1 2010 2010
CUI: C0339681
Disease: Index myopia
Index myopia 		disease Eye Diseases Disease or Syndrome 1 0.010 None 1.000 1 2009 2009
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.010 None 1.000 1 2014 2014
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.010 None 1.000 1 2017 2017
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		disease Digestive System Diseases Disease or Syndrome 446 52 0.010 None 1.000 1 1 2019 2019
CUI: C0022578
Disease: Keratoconus
Keratoconus 		disease Eye Diseases Disease or Syndrome 269 83 0.010 None 1.000 1 2019 2019
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		phenotype Musculoskeletal Diseases Sign or Symptom 163 14 0.010 None < 0.001 1 2014 2014
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.010 None < 0.001 1 2014 2014
CUI: C0266542
Disease: Spherophakia
Spherophakia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 2 0.010 None 1.000 1 2012 2012
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		disease Eye Diseases Disease or Syndrome 383 222 0.010 None 1.000 1 2017 2017
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease Anatomical Abnormality 148 18 0.010 None < 0.001 1 2013 2013