CRYAA, crystallin alpha A, 1409

N. diseases: 40; N. variants: 18
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: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 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: C4015984
Disease: CATARACT 9, AUTOSOMAL RECESSIVE
CATARACT 9, AUTOSOMAL RECESSIVE
disease Finding 1 1 0.100 None 0 1
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 85 29 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder)
disease Eye Diseases Disease or Syndrome 166 37 0.070 None 1.000 7 2 2008 2017
CUI: C0001857
Disease: AIDS related complex
AIDS related complex
disease Infections; Immune System Diseases Disease or Syndrome 100 43 0.030 None 1.000 3 3 2012 2016
CUI: C0036646
Disease: Age-related cataract
Age-related cataract
disease Eye Diseases Acquired Abnormality 92 15 0.030 None 1.000 3 1 2013 2017
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 1515 85 0.010 None 1.000 1 2018 2018
CUI: C0271160
Disease: Cortical cataract
Cortical cataract
disease Eye Diseases Disease or Syndrome 69 15 0.010 None 1.000 1 2017 2017
CUI: C1861821
Disease: CATARACT, MARNER TYPE
CATARACT, MARNER TYPE
disease Eye Diseases Disease or Syndrome 63 5 0.010 None 1.000 1 2015 2015
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 1 2018 2018
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group Eye Diseases Disease or Syndrome 400 14 0.010 None 1.000 1 2002 2002
Congenital ocular coloboma (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 129 21 0.010 None 1.000 1 2008 2008
Embryonal nuclear cataract (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 16 1 0.010 None 1.000 1 2013 2013