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: C0028259
Disease: Nodule
Nodule 		phenotype Acquired Abnormality 278 19 0.100 None 1.000 12 2015 2019
CUI: C0234119
Disease: Neuromuscular inhibition
Neuromuscular inhibition 		disease Disease or Syndrome 72 2 0.010 None 1.000 1 2019 2019
CUI: C0410158
Disease: Muscle damage
Muscle damage 		phenotype Acquired Abnormality 163 4 0.010 None 1.000 1 2019 2019
CUI: C0877008
Disease: Enzyme inhibition disorder
Enzyme inhibition disorder 		phenotype Disease or Syndrome 171 1 0.010 None 1.000 1 2017 2017
CUI: C4021028
Disease: Pseudo-fractures
Pseudo-fractures 		disease Anatomical Abnormality 8 0.010 None 1.000 1 2018 2018
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		disease Disease or Syndrome 740 41 0.010 None 1.000 1 2019 2019
CUI: C4721208
Disease: Metastatic castration-resistant prostate cancer
Metastatic castration-resistant prostate cancer 		disease Neoplastic Process 140 2 0.010 None 1.000 1 2018 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1551 382 0.010 None 1.000 1 2019 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1091 73 0.010 None 1.000 1 2019 2019
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 756 47 0.010 None 1.000 1 2009 2009
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 129 50 0.010 None 1.000 1 2020 2020
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 73 40 0.010 None 1.000 1 2019 2019
CUI: C0520739
Disease: Hereditary pyropoikilocytosis
Hereditary pyropoikilocytosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 47 14 0.050 None 1.000 5 2007 2019
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 557 20 0.010 None 1.000 1 2017 2017
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 14 4 0.010 None 1.000 1 2015 2015
CUI: C0432123
Disease: Sagittal craniosynostosis
Sagittal craniosynostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 19 4 0.010 None 1.000 1 2015 2015
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 377 64 0.010 None 1.000 1 2014 2014
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 154 4 0.010 None 1.000 1 2011 2011
CUI: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Facioscapulohumeral 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 133 3 0.010 None 1.000 1 2001 2001
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 83 7 0.010 None 1.000 1 2019 2019
CUI: C3250443
Disease: MYOTONIC DYSTROPHY 1
MYOTONIC DYSTROPHY 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 179 12 0.010 None 1.000 1 2011 2011
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 257 53 0.010 None 1.000 1 2017 2017
CUI: C1848200
Disease: SUBCORTICAL BAND HETEROTOPIA, X-LINKED
SUBCORTICAL BAND HETEROTOPIA, X-LINKED 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 0.010 None 1.000 1 2018 2018
CUI: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 23 1 0.010 None 1.000 1 2018 2018
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 945 69 0.010 None 1.000 1 2019 2019