Source: ALL
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: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 113 25 0.200 None 0.992 123 8 1996 2019
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 13 0.800 strong 0.960 50 11 1998 2019
Familial Amyloid Polyneuropathy, Type V
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 8 19 0.200 None 0.953 43 14 1999 2019
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 115 14 0.800 strong 1.000 40 5 1998 2019
CUI: C0018179
Disease: Granular Dystrophy, Corneal
Granular Dystrophy, Corneal
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 8 6 0.200 None 0.964 28 5 1994 2018
CUI: C0339278
Disease: Reis-Bucklers' corneal dystrophy
Reis-Bucklers' corneal dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 2 6 0.800 strong 0.950 20 5 1998 2019
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 694 93 0.090 None 1.000 9 1 1998 2019
CUI: C0162281
Disease: Corneal deposit
Corneal deposit
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 3 3 0.090 None 1.000 9 3 1999 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.080 None 1.000 8 2008 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.080 None 1.000 8 2008 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.080 None 1.000 8 2002 2019
CUI: C0022578
Disease: Keratoconus
Keratoconus
disease Eye Diseases Disease or Syndrome 269 83 0.070 None 1.000 7 1 1999 2017
Conventional (Clear Cell) Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.070 None 1.000 7 2008 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 14 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 7 4 1998 2015
Corneal Dystrophy, Lattice Type IIIA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 6 0.730 strong 0.857 7 6 1998 2011
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2084 288 0.060 None 1.000 6 2008 2019
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.060 None 1.000 6 2007 2017
Groenouw corneal dystrophy type I (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 3 0.730 strong 1.000 6 3 1998 2011
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2841 327 0.060 None 1.000 6 2010 2017
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.050 None 1.000 5 2014 2019
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
disease Skin and Connective Tissue Diseases Disease or Syndrome 979 287 0.050 None 1.000 5 1997 2019
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2689 322 0.050 None 1.000 5 2002 2019
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.050 None 1.000 5 2006 2020
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2667 277 0.050 None 1.000 5 2002 2019