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: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT
disease Eye Diseases Disease or Syndrome 10 8 0.800 23 7 1996 2017
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 518 42 0.700 strong 1.000 18 1 1998 2015
Cataract, Autosomal Recessive Congenital 1
disease Eye Diseases Disease or Syndrome 2 4 0.500 13 4 1996 2013
CUI: C1510497
Disease: Lens Opacities
Lens Opacities
phenotype Eye Diseases Finding 338 0.400 1 1998 1998
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
disease Congenital Abnormality 110 60 0.330 1.000 10 5 1996 2017
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract
disease Disease or Syndrome 29 1 0.330 1.000 3 1 2007 2015
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract
disease Disease or Syndrome 32 1 0.330 1.000 3 1 2007 2015
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome
disease Eye Diseases Disease or Syndrome 10 3 0.310 1.000 1 2006 2006
CUI: C0042164
Disease: Uveitis
Uveitis
disease Eye Diseases Disease or Syndrome 129 22 0.300 2 2009 2011
CUI: C0524524
Disease: Pseudoaphakia
Pseudoaphakia
disease Eye Diseases Disease or Syndrome 22 1 0.300 1 1998 1998
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
group Immune System Diseases Disease or Syndrome 1059 141 0.300 1 2011 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.300 moderate 0
CUI: C1855179
Disease: CATARACT, ANTERIOR POLAR
CATARACT, ANTERIOR POLAR
disease Eye Diseases Disease or Syndrome 42 3 0.300 0
CUI: C0266539
Disease: Congenital total cataract
Congenital total cataract
disease Congenital Abnormality 15 0.300 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.300 0
CUI: C0029531
Disease: Other cataract
Other cataract
group Disease or Syndrome 28 0.200 2 1992 2004
CUI: C0016952
Disease: Galactosemias
Galactosemias
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 18 16 0.200 1 1991 1991
CUI: C0028840
Disease: Ocular Hypertension
Ocular Hypertension
disease Eye Diseases Disease or Syndrome 35 4 0.200 1 2008 2008
CUI: C0027092
Disease: Myopia
Myopia
disease Eye Diseases Disease or Syndrome 268 48 0.110 1.000 1 2011 2011
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 506 827 0.100 5 1 1998 2016
CUI: C4015984
Disease: CATARACT 9, AUTOSOMAL RECESSIVE
CATARACT 9, AUTOSOMAL RECESSIVE
phenotype Finding 1 1 0.100 1 1 2000 2000
CUI: C0042798
Disease: Low Vision
Low Vision
disease Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 260 12 0.100 0
CUI: C1167713
Disease: Decreased corneal diameter
Decreased corneal diameter
phenotype Finding 73 0.100 0
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 31 4 0.100 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 250 0.100 0