CRYBA1, crystallin beta A1, 1411

N. diseases: 20; N. variants: 6
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: C1833229
Disease: Cataract, Congenital Zonular, with Sutural Opacities
Cataract, Congenital Zonular, with Sutural Opacities 		disease Eye Diseases Disease or Syndrome 1 4 0.800 None 1.000 7 4 1998 2015
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract 		disease Eye Diseases Disease or Syndrome 39 11 0.310 None 1.000 3 2011 2018
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 2011 2018
CUI: C1854021
Disease: Cataract, Central Saccular, With Sutural Opacities
Cataract, Central Saccular, With Sutural Opacities 		disease Eye Diseases Disease or Syndrome 6 0.300 None 1.000 1 1998 1998
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		disease Eye Diseases Disease or Syndrome 67 9 0.300 None 1.000 1 2010 2010
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 0.260 None 1.000 7 1999 2019
CUI: C0028840
Disease: Ocular Hypertension
Ocular Hypertension 		disease Eye Diseases Disease or Syndrome 103 8 0.200 None 1.000 1 2006 2006
CUI: C1864205
Disease: Macular Degeneration, Age-Related, 1
Macular Degeneration, Age-Related, 1 		disease Eye Diseases Disease or Syndrome 6 3 0.200 None 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 6 1 2004 2017
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1236 1451 0.100 None 1.000 1 1 2018 2018
CUI: C4021560
Disease: Posterior Y-sutural cataract
Posterior Y-sutural cataract 		phenotype Pathologic Function 3 0.100 None 0
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.060 None 1.000 6 1 1999 2019
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		disease Eye Diseases Disease or Syndrome 166 37 0.030 None 1.000 3 2004 2012
CUI: C0158551
Disease: Embryonal nuclear cataract (disorder)
Embryonal nuclear cataract (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 16 1 0.030 None 1.000 3 2004 2018
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 311 827 0.020 None 1.000 2 1989 1989
CUI: C0266568
Disease: Persistent Hyperplastic Primary Vitreous
Persistent Hyperplastic Primary Vitreous 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 33 4 0.010 None 1.000 1 2019 2019
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		disease Neoplasms Neoplastic Process 651 21 0.010 None 1.000 1 1989 1989
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.010 None 1.000 1 2019 2019
CUI: C2025392
Disease: Polar cataract
Polar cataract 		disease Eye Diseases Congenital Abnormality 9 1 0.010 None 1.000 1 2010 2010
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.010 None 1.000 1 2018 2018