CRYBB3, crystallin beta B3, 1417

N. diseases: 10; N. variants: 3
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.
Cataract, Congenital Nuclear, Autosomal Recessive 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 2 0.700 None 1.000 2 2 2005 2013
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract
disease Eye Diseases Disease or Syndrome 69 11 0.400 None 1.000 2 2005 2013
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract
disease Eye Diseases Disease or Syndrome 39 11 0.400 None 1.000 2 2005 2013
Embryonal nuclear cataract (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 16 1 0.400 strong 0
CUI: C1855179
Disease: CATARACT, ANTERIOR POLAR
CATARACT, ANTERIOR POLAR
disease Eye Diseases Disease or Syndrome 125 27 0.300 None 1.000 1 2013 2013
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 0.120 None 1.000 3 2 2005 2016
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.040 None 1.000 4 2005 2016
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2016 2016
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 1991 1991
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder)
disease Eye Diseases Disease or Syndrome 166 37 0.010 None 1.000 1 2011 2011