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: C0344525
Disease: Congenital membranous cataract
Congenital membranous cataract 		disease Congenital Abnormality 1 0.010 None 1.000 1 2013 2013
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: C1260959
Disease: Drusen
Drusen 		disease Disease or Syndrome 57 18 0.010 None 1.000 1 2010 2010
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: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0
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 2006 2006
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: 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: 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: 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: 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: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 559 48 0.010 None 1.000 1 2018 2018
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Neoplastic Process 127 49 0.010 None 1.000 1 1992 1992
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.200 None 1.000 13 2 2002 2019
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		disease Eye Diseases Disease or Syndrome 166 37 0.070 None 1.000 7 2002 2019
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: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT 		disease Eye Diseases Disease or Syndrome 14 10 0.040 None 1.000 4 2007 2019
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: C0392557
Disease: Nuclear cataract
Nuclear cataract 		disease Eye Diseases Disease or Syndrome 39 11 0.310 None 1.000 3 2004 2014
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: C0042164
Disease: Uveitis
Uveitis 		disease Eye Diseases Disease or Syndrome 247 43 0.300 None 1.000 2 2009 2011
CUI: C0017601
Disease: Glaucoma
Glaucoma 		disease Eye Diseases Disease or Syndrome 770 198 0.010 None 1.000 1 2017 2017
CUI: C0036646
Disease: Age-related cataract
Age-related cataract 		disease Eye Diseases Acquired Abnormality 92 15 0.010 None 1.000 1 2018 2018