CRYBB2, crystallin beta B2, 1415

N. diseases: 49; N. variants: 12
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: C1832175
Disease: Cataract, Congenital, Cerulean Type, 2
Cataract, Congenital, Cerulean Type, 2 		disease Eye Diseases Disease or Syndrome 4 5 0.800 None 1.000 6 5 1980 2017
CUI: C0344523
Disease: Cataract, congenital, cerulean type 1
Cataract, congenital, cerulean type 1 		disease Eye Diseases Congenital Abnormality 6 0.630 None 1.000 3 1997 2019
CUI: C1852438
Disease: CATARACT, COPPOCK-LIKE
CATARACT, COPPOCK-LIKE 		disease Eye Diseases Disease or Syndrome 20 1 0.610 strong 1.000 1 2000 2000
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 0.400 None 1.000 14 4 1980 2017
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract 		disease Eye Diseases Disease or Syndrome 69 11 0.310 None 1.000 3 2004 2014
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract 		disease Eye Diseases Disease or Syndrome 39 11 0.310 None 1.000 3 2004 2014
CUI: C0042164
Disease: Uveitis
Uveitis 		disease Eye Diseases Disease or Syndrome 247 43 0.300 None 1.000 2 2009 2011
CUI: C1854021
Disease: Cataract, Central Saccular, With Sutural Opacities
Cataract, Central Saccular, With Sutural Opacities 		disease Eye Diseases Disease or Syndrome 6 0.300 None 1.000 1 2001 2001
CUI: C0266539
Disease: Congenital total cataract
Congenital total cataract 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 16 0.300 None 1.000 1 2010 2010
CUI: C1833118
Disease: Cataract, Pulverulent
Cataract, Pulverulent 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 12 4 0.300 None 1.000 1 2000 2000
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.300 None 1.000 1 2011 2011
CUI: C4721890
Disease: CATARACT 2, MULTIPLE TYPES
CATARACT 2, MULTIPLE TYPES 		disease Disease or Syndrome 3 6 0.300 strong 1.000 1 1996 1996
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		disease Eye Diseases Disease or Syndrome 10 5 0.300 None 1.000 1 2011 2011
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.200 None 1.000 13 2 2002 2019
CUI: C0266544
Disease: Microcornea
Microcornea 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 129 10 0.110 None 1.000 1 2011 2011
CUI: C0869220
Disease: Adverse effects, not elsewhere classified
Adverse effects, not elsewhere classified 		disease Injury or Poisoning 55 54 0.100 None 1.000 1 1 2019 2019
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		phenotype Eye Diseases Finding 113 5 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 148 1 0.100 None 0
CUI: C4023734
Disease: Sutural cataract
Sutural cataract 		disease Eye Diseases Disease or Syndrome 5 0.100 None 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.100 None 0
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 113 25 0.100 None 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Anatomical Abnormality 153 12 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C0027092
Disease: Myopia
Myopia 		disease Eye Diseases Disease or Syndrome 490 167 0.100 None 0