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.
Cataract, Autosomal Recessive Congenital 1
disease Eye Diseases Disease or Syndrome 2 0.500 strong 1.000 6 1996 2009
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome
disease Eye Diseases Disease or Syndrome 10 5 0.310 None 1.000 4 2006 2011
CUI: C0029531
Disease: Other cataract
Other cataract
disease Eye Diseases Disease or Syndrome 32 0.200 None 1.000 3 1992 2008
CUI: C0042164
Disease: Uveitis
Uveitis
disease Eye Diseases Disease or Syndrome 247 43 0.300 None 1.000 2 2009 2011
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: C0524524
Disease: Pseudoaphakia
Pseudoaphakia
disease Eye Diseases Disease or Syndrome 28 0.300 None 1.000 1 1998 1998
CUI: C0028840
Disease: Ocular Hypertension
Ocular Hypertension
disease Eye Diseases Disease or Syndrome 103 8 0.200 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
CUI: C0271160
Disease: Cortical cataract
Cortical cataract
disease Eye Diseases Disease or Syndrome 69 15 0.010 None 1.000 1 2017 2017
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 2006 2006
CUI: C1510497
Disease: Lens Opacities
Lens Opacities
phenotype Eye Diseases Finding 24 0.300 None 1.000 1 1998 1998
CUI: C1855179
Disease: CATARACT, ANTERIOR POLAR
CATARACT, ANTERIOR POLAR
disease Eye Diseases Disease or Syndrome 125 27 0.300 None 1.000 1 2011 2011
CUI: C0016952
Disease: Galactosemias
Galactosemias
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 29 16 0.200 None 1.000 1 1991 1991
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
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity
phenotype Eye Diseases Finding 113 5 0.110 None 1.000 1 2008 2008
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
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
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: 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.300 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: 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: C0017601
Disease: Glaucoma
Glaucoma
disease Eye Diseases Disease or Syndrome 770 198 0.100 None 0
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.100 None 0