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: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 104 6 0.070 None 0.857 7 2009 2019
CUI: C2750787
Disease: Weill-Marchesani-Like Syndrome
Weill-Marchesani-Like Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 5 5 0.750 strong 0.857 7 5 2009 2019
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.140 None 1.000 4 2012 2019
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 5 4 0.040 None 1.000 4 2013 2019
CUI: C1851286
Disease: Ectopia lentis isolated
Ectopia lentis isolated
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 5 3 0.020 None 1.000 2 2011 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.010 None 1.000 1 2014 2014
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome
disease Nervous System Diseases; Wounds and Injuries Disease or Syndrome 87 46 0.100 None 1.000 1 1 2019 2019
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 34 17 0.110 None 1.000 1 2017 2017
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease
disease Digestive System Diseases Disease or Syndrome 446 52 0.010 None 1.000 1 1 2019 2019
CUI: C0022578
Disease: Keratoconus
Keratoconus
disease Eye Diseases Disease or Syndrome 269 83 0.010 None 1.000 1 2019 2019
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
disease Neoplasms Neoplastic Process 2283 178 0.100 None 1.000 1 1 2013 2013
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.010 None < 0.001 1 2014 2014
CUI: C0266542
Disease: Spherophakia
Spherophakia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 2 0.010 None 1.000 1 2012 2012
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
disease Eye Diseases Disease or Syndrome 383 222 0.010 None 1.000 1 2017 2017
CUI: C0339681
Disease: Index myopia
Index myopia
disease Eye Diseases Disease or Syndrome 1 0.010 None 1.000 1 2009 2009
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver
disease Digestive System Diseases; Neoplasms Neoplastic Process 1649 88 0.300 None 1.000 1 2009 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2014 2014
CUI: C1527349
Disease: Ductal Breast Carcinoma
Ductal Breast Carcinoma
disease Neoplasms Neoplastic Process 196 10 0.010 None 1.000 1 2014 2014
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 10 7 0.010 None 1.000 1 2011 2011
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
disease Anatomical Abnormality 148 18 0.010 None < 0.001 1 2013 2013
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease Eye Diseases Disease or Syndrome 770 198 0.100 None 0
CUI: C0027092
Disease: Myopia
Myopia
disease Eye Diseases Disease or Syndrome 490 167 0.100 None 0
CUI: C0028840
Disease: Ocular Hypertension
Ocular Hypertension
disease Eye Diseases Disease or Syndrome 103 8 0.100 None 0
CUI: C0423320
Disease: Iridodonesis
Iridodonesis
disease Eye Diseases Disease or Syndrome 4 0.100 None 0
CUI: C2939415
Disease: Phacodonesis
Phacodonesis
disease Eye Diseases Disease or Syndrome 2 0.100 None 0