GJA8, gap junction protein alpha 8, 2703

N. diseases: 82; N. variants: 21
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: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1
disease Eye Diseases Disease or Syndrome 3 10 0.930 None 1.000 19 9 1998 2016
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome
disease Eye Diseases Disease or Syndrome 10 5 0.610 None 1.000 3 2006 2010
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.500 None 1.000 37 1 1998 2019
CUI: C1833118
Disease: Cataract, Pulverulent
Cataract, Pulverulent
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 12 4 0.430 None 1.000 3 1998 2008
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract
disease Eye Diseases Disease or Syndrome 39 11 0.420 None 1.000 4 1 2003 2014
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract
disease Eye Diseases Disease or Syndrome 69 11 0.420 None 1.000 4 1 2003 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.410 None 1.000 1 1 2007 2007
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 0.400 None 1.000 38 9 1998 2019
CUI: C1852438
Disease: CATARACT, COPPOCK-LIKE
CATARACT, COPPOCK-LIKE
disease Eye Diseases Disease or Syndrome 20 1 0.330 None 1.000 4 1999 2015
CUI: C1510497
Disease: Lens Opacities
Lens Opacities
phenotype Eye Diseases Finding 24 0.300 None 1.000 1 1998 1998
CUI: C1866984
Disease: Sclerocornea, Autosomal Dominant
Sclerocornea, Autosomal Dominant
disease Eye Diseases Disease or Syndrome 1 0.300 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
Cataract, Central Saccular, With Sutural Opacities
disease Eye Diseases Disease or Syndrome 6 0.300 None 1.000 1 2008 2008
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 2007 2007
Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 2 0.300 None 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 337 40 0.260 None 1.000 7 1998 2019
CUI: C0029531
Disease: Other cataract
Other cataract
disease Eye Diseases Disease or Syndrome 32 0.200 None 1.000 1 2002 2002
CUI: C0266544
Disease: Microcornea
Microcornea
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 129 10 0.150 None 1.000 5 1 2006 2012
Embryonal nuclear cataract (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 16 1 0.130 None 1.000 3 2009 2020
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder)
disease Eye Diseases Disease or Syndrome 166 37 0.100 None 1.000 16 1998 2019
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 3 1 2010 2017
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 3 1 2010 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.100 None 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.100 None 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Anatomical Abnormality 153 12 0.100 None 0