CRYBB3, crystallin beta B3, 1417

N. diseases: 9; 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 0.600 2 2 2005 2013
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract
disease Disease or Syndrome 32 1 0.400 0
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 518 42 0.320 strong 1.000 2 2005 2011
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract
disease Disease or Syndrome 29 1 0.300 0
CUI: C1855179
Disease: CATARACT, ANTERIOR POLAR
CATARACT, ANTERIOR POLAR
disease Eye Diseases Disease or Syndrome 42 3 0.300 0
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: C0009691
Disease: Congenital cataract
Congenital cataract
disease Congenital Abnormality 110 60 0.110 1.000 2 2 2005 2016
CUI: C3277059
Disease: Congenital Bilateral Cataracts
Congenital Bilateral Cataracts
disease Disease or Syndrome 74 0.100 0
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder)
disease Disease or Syndrome 111 15 0.010 1.000 1 2011 2011