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: C3808115
Disease: CATARACT 12, MULTIPLE TYPES
CATARACT 12, MULTIPLE TYPES
disease Disease or Syndrome 2 2 0.600 None 1.000 3 2 2000 2004
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.390 strong 1.000 9 3 2000 2014
CUI: C1833118
Disease: Cataract, Pulverulent
Cataract, Pulverulent
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 12 4 0.310 None 1.000 1 1 2014 2014
Cataract, Central Saccular, With Sutural Opacities
disease Eye Diseases Disease or Syndrome 6 0.300 None 1.000 1 2006 2006
CUI: C1852438
Disease: CATARACT, COPPOCK-LIKE
CATARACT, COPPOCK-LIKE
disease Eye Diseases Disease or Syndrome 20 1 0.300 None 1.000 1 2014 2014
Cataract, Autosomal Dominant, Multiple Types 1
disease Eye Diseases Disease or Syndrome 1 0.300 None 0
CUI: C4021566
Disease: Progressive cataract
Progressive cataract
disease Eye Diseases Disease or Syndrome 3 4 0.110 None 1.000 1 2000 2000
CUI: C0027092
Disease: Myopia
Myopia
disease Eye Diseases Disease or Syndrome 490 167 0.110 None 1.000 1 2004 2004
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder)
disease Eye Diseases Disease or Syndrome 166 37 0.030 None 1.000 3 2 2000 2008
CUI: C4023734
Disease: Sutural cataract
Sutural cataract
disease Eye Diseases Disease or Syndrome 5 0.020 None 1.000 2 2004 2006
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases Congenital Abnormality 105 104 0.020 None 1.000 2 2000 2007
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 30 18 0.010 None 1.000 1 2017 2017
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT
disease Eye Diseases Disease or Syndrome 14 10 0.010 None 1.000 1 2000 2000
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 509 12 0.010 None 1.000 1 2019 2019
CUI: C0266537
Disease: Congenital lamellar cataract
Congenital lamellar cataract
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 18 6 0.010 None 1.000 1 1 2008 2008
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 270 139 0.010 None 1.000 1 2018 2018
CUI: C0024809
Disease: Marijuana Abuse
Marijuana Abuse
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 156 23 0.010 None 1.000 1 2014 2014
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 337 40 0.010 None 1.000 1 2011 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2019 2019
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 565 20 0.010 None 1.000 1 2019 2019
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.010 None 1.000 1 2018 2018
CUI: C0220611
Disease: Childhood Rhabdomyosarcoma
Childhood Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 517 12 0.010 None 1.000 1 2019 2019
CUI: C0266525
Disease: Irido-corneal dysgenesis
Irido-corneal dysgenesis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 22 2 0.010 None 1.000 1 2011 2011
CUI: C0007370
Disease: Catalepsy
Catalepsy
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 43 0.010 None 1.000 1 2017 2017