Source: BEFREE ×
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: C0002726
Disease: Amyloidosis
Amyloidosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 685 93 0.090 None 1.000 5 1 1998 2019
CUI: C1837974
Disease: Corneal Dystrophy, Lattice Type IIIA
Corneal Dystrophy, Lattice Type IIIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 5 0.730 strong 0.857 3 5 1998 2011
CUI: C1641846
Disease: Groenouw corneal dystrophy type I (disorder)
Groenouw corneal dystrophy type I (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 2 0.730 strong 1.000 3 2 1998 2011
CUI: C0521723
Disease: Corneal dystrophy, epithelial basement membrane
Corneal dystrophy, epithelial basement membrane 		disease Eye Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1 2 0.710 strong 1.000 1 2 1998 2016
CUI: C0155127
Disease: Familial Amyloid Polyneuropathy, Type V
Familial Amyloid Polyneuropathy, Type V 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 6 19 0.200 None 0.953 43 14 1999 2019
CUI: C0162281
Disease: Corneal deposit
Corneal deposit 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 3 3 0.090 None 1.000 9 3 1999 2018
CUI: C0022578
Disease: Keratoconus
Keratoconus 		disease Eye Diseases Disease or Syndrome 163 81 0.070 None 1.000 7 1 1999 2017
CUI: C4700127
Disease: Thiel-behnke
Thiel-behnke 		disease Disease or Syndrome 2 2 0.030 None 1.000 3 2 1999 2008
CUI: C0010035
Disease: Hereditary corneal dystrophy
Hereditary corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 0.020 None 1.000 2 1999 2005
CUI: C0155119
Disease: Recurrent erosion of cornea
Recurrent erosion of cornea 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome 2 0.110 None 1.000 1 1999 1999
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		disease Eye Diseases Disease or Syndrome 166 37 0.020 None 1.000 2 2000 2002
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 385 111 0.120 None 1.000 2 2000 2002
CUI: C0038457
Disease: Stromal Dystrophies, Corneal
Stromal Dystrophies, Corneal 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 2 1 0.020 None 1.000 2 1 2000 2000
CUI: C0020492
Disease: Hyperostosis
Hyperostosis 		disease Musculoskeletal Diseases Disease or Syndrome 39 1 0.010 None 1.000 1 2000 2000
CUI: C0025239
Disease: Melorheostosis
Melorheostosis 		disease Musculoskeletal Diseases Disease or Syndrome 4 2 0.010 None 1.000 1 2000 2000
CUI: C0028259
Disease: Nodule
Nodule 		phenotype Acquired Abnormality 278 19 0.010 None 1.000 1 2000 2000
CUI: C0271288
Disease: Corneal guttata
Corneal guttata 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 3 1 0.010 None 1.000 1 1 2000 2000
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2021 320 0.020 None 1.000 2 2001 2016
CUI: C4302896
Disease: Hormone sensitive prostate cancer
Hormone sensitive prostate cancer 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 27 0.010 None 1.000 1 2001 2001
CUI: C4551463
Disease: Colon adenoma
Colon adenoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 62 1 0.010 None 1.000 1 2001 2001
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1060 131 0.210 None 1.000 1 2001 2006
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5541 769 0.080 None 1.000 8 2002 2019
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.070 None 1.000 7 2002 2019
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2659 236 0.050 None 1.000 5 2002 2019
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2640 238 0.050 None 1.000 5 2002 2019