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: C0271093
Disease: Stargardt's disease
Stargardt's disease 		phenotype Disease or Syndrome 43 16 1.000 limited 0.995 158 12 1997 2020
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		disease Disease or Syndrome 18 18 1.000 None 0.978 77 15 1997 2020
CUI: C0339508
Disease: Hereditary macular dystrophy
Hereditary macular dystrophy 		disease Congenital Abnormality 39 10 0.090 None 1.000 9 2 1997 2019
CUI: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome 		disease Disease or Syndrome 58 9 0.020 None 1.000 2 2014 2016
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2017 2018
CUI: C1720251
Disease: Retinal pigment epithelium atrophy
Retinal pigment epithelium atrophy 		disease Acquired Abnormality 7 2 0.020 None 1.000 2 2012 2016
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.020 None 1.000 2 2015 2018
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		disease Congenital Abnormality 18 11 0.310 None < 0.001 1 1 2018 2018
CUI: C0877104
Disease: Retinal toxicity
Retinal toxicity 		disease Anatomical Abnormality 12 0.010 None 1.000 1 2001 2001
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2000 2000
CUI: C1739135
Disease: Progression of prostate cancer
Progression of prostate cancer 		disease Neoplastic Process 398 7 0.010 None 1.000 1 2016 2016
CUI: C4015286
Disease: MACULAR DEGENERATION, EARLY-ONSET
MACULAR DEGENERATION, EARLY-ONSET 		disease Disease or Syndrome 5 1 0.010 None 1.000 1 2001 2001
CUI: C4022725
Disease: Retinal astrocytic hamartoma
Retinal astrocytic hamartoma 		disease Neoplastic Process 2 0.010 None 1.000 1 2007 2007
CUI: C4293702
Disease: Foveal atrophy
Foveal atrophy 		phenotype Anatomical Abnormality 2 0.010 None 1.000 1 2013 2013
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		phenotype Anatomical Abnormality 76 34 0.010 None < 0.001 1 1 2010 2010
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 1995 266 0.020 None 1.000 2 2016 2016
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 1998 271 0.020 None 1.000 2 2016 2016
CUI: C0018801
Disease: Heart failure
Heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1391 120 0.020 None 1.000 2 2012 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1575 156 0.020 None 1.000 2 2012 2019
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 1262 440 0.010 None 1.000 1 2001 2001
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 1973 871 0.010 None 1.000 1 2017 2017
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 660 40 0.010 None 1.000 1 2010 2010
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 830 162 0.020 None 1.000 2 4 2015 2019
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 402 146 0.700 strong 0.974 29 6 1998 2019
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 247 48 0.400 None 1.000 28 9 1998 2017