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: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease Eye Diseases Disease or Syndrome 616 390 0.700 strong 0.957 66 7 1997 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: C0008924
Disease: Cleft upper lip
Cleft upper lip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 76 34 0.410 None 0.750 1 1 2010 2017
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
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 214 14 0.340 None 1.000 4 2000 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6481 2154 0.330 None 1.000 3 2001 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5011 1186 0.320 None 1.000 2 2012 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: C1838644
Disease: Stargardt disease 3
Stargardt disease 3 		disease Eye Diseases Disease or Syndrome 4 0.220 None 1.000 2 1998 2018
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group Eye Diseases Disease or Syndrome 599 54 0.200 None 0.977 44 3 1992 2020
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 63 23 0.200 None 1.000 18 3 2000 2019
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 68 33 0.200 None 1.000 17 3 2000 2017
CUI: C0024437
Disease: Macular degeneration
Macular degeneration 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 36 7 0.200 None 1.000 14 1999 2019
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group Eye Diseases Disease or Syndrome 113 12 0.200 None 0.967 14 2 1997 2019
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		disease Eye Diseases Disease or Syndrome 39 10 0.190 None 1.000 9 2 1997 2019
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 141 11 0.160 None 1.000 6 2004 2014
CUI: C0456909
Disease: Blindness
Blindness 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 194 16 0.150 None 1.000 5 2004 2017
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina 		group Eye Diseases Disease or Syndrome 48 18 0.150 None 1.000 5 1 2007 2015
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2459 900 0.130 None 1.000 3 2018 2019
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease Eye Diseases Disease or Syndrome 66 22 0.120 None 1.000 2 1 1998 2014
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 179 52 0.110 None 0.667 1 1 2010 2017
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2694 1598 0.110 None 1.000 1 1 2008 2008
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 82 31 0.100 None 0.909 11 3 1999 2014