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: C1850959
Disease: Corneal dystrophy, Fuchs' endothelial, 1
Corneal dystrophy, Fuchs' endothelial, 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 9 1 0.010 None 1.000 1 1996 1996
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 10 20 0.010 None 1.000 1 2007 2007
CUI: C4699184
Disease: Fuchs
Fuchs 		disease Disease or Syndrome 10 5 0.010 None 1.000 1 1996 1996
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
Lattice corneal dystrophy Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 11 12 0.800 strong 0.960 45 10 1998 2019
CUI: C0339273
Disease: Corneal dystrophy, Lattice type 3
Corneal dystrophy, Lattice type 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases Disease or Syndrome 12 10 0.070 None 0.857 7 4 1998 2007
CUI: C1562894
Disease: Thiel-Behnke corneal dystrophy
Thiel-Behnke corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 12 4 0.750 strong 1.000 5 4 1998 2015
CUI: C0920372
Disease: Carcinogenesis, Radiation
Carcinogenesis, Radiation 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 13 0.020 None 1.000 2 2003 2011
CUI: C0011757
Disease: Developmental Coordination Disorder
Developmental Coordination Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 15 0.010 None 1.000 1 2019 2019
CUI: C0342895
Disease: Fish-Eye Disease
Fish-Eye Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 18 11 0.010 None 1.000 1 2012 2012
CUI: C0856747
Disease: Aneurysm of ascending aorta
Aneurysm of ascending aorta 		phenotype Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 20 4 0.010 None 1.000 1 2018 2018
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		disease Disease or Syndrome 21 0.010 None 1.000 1 2019 2019
CUI: C1306068
Disease: After-cataract
After-cataract 		disease Eye Diseases Disease or Syndrome 22 2 0.010 None 1.000 1 2015 2015
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		disease Nervous System Diseases Disease or Syndrome 24 10 0.010 None 1.000 1 2004 2004
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: C1301509
Disease: Severe visual impairment
Severe visual impairment 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 31 4 0.020 None 1.000 2 2017 2018
CUI: C0020492
Disease: Hyperostosis
Hyperostosis 		disease Musculoskeletal Diseases Disease or Syndrome 39 1 0.010 None 1.000 1 2000 2000
CUI: C0010034
Disease: Corneal Diseases
Corneal Diseases 		group Eye Diseases Disease or Syndrome 41 0.020 None 1.000 2 2007 2017
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 44 20 0.200 None 0.992 117 7 1996 2019
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 48 11 0.010 None 1.000 1 2019 2019
CUI: C0343386
Disease: Clostridium difficile infection
Clostridium difficile infection 		disease Infections Disease or Syndrome 53 1 0.010 None 1.000 1 2020 2020
CUI: C2921627
Disease: Clinically isolated syndrome
Clinically isolated syndrome 		disease Disease or Syndrome 54 2 0.010 None 1.000 1 2018 2018
CUI: C1136085
Disease: Monoclonal Gammapathies
Monoclonal Gammapathies 		group Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 62 2 0.010 None 1.000 1 2009 2009
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: C0011875
Disease: Diabetic Angiopathies
Diabetic Angiopathies 		disease Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 79 7 0.010 None 1.000 1 2003 2003
CUI: C0860659
Disease: Aloof
Aloof 		disease Mental or Behavioral Dysfunction 81 0.010 None 1.000 1 1996 1996