GJA3, gap junction protein alpha 3, 2700

N. diseases: 40; N. variants: 15
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: C1866078
Disease: Cataract, Zonular Pulverulent 3
Cataract, Zonular Pulverulent 3
disease Eye Diseases Disease or Syndrome 1 10 0.900 None 1.000 23 10 1999 2018
CUI: C1392104
Disease: Coralliform cataract
Coralliform cataract
disease Eye Diseases Congenital Abnormality 2 3 0.020 None 1.000 2 2012 2013
Cataract, Autosomal Dominant Nuclear
disease Eye Diseases Disease or Syndrome 2 0.010 None 1.000 1 2008 2008
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1
disease Eye Diseases Disease or Syndrome 3 10 0.030 None 1.000 3 1999 2006
CUI: C3277059
Disease: Congenital Bilateral Cataracts
Congenital Bilateral Cataracts
disease Disease or Syndrome 8 1 0.010 None 1.000 1 2016 2016
CUI: C2025392
Disease: Polar cataract
Polar cataract
disease Eye Diseases Congenital Abnormality 9 1 0.020 None 1.000 2 1 2010 2011
CUI: C1833118
Disease: Cataract, Pulverulent
Cataract, Pulverulent
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 12 4 0.310 None 1.000 2 2011 2012
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT
disease Eye Diseases Disease or Syndrome 14 10 0.020 None 1.000 2 2011 2013
Embryonal nuclear cataract (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 16 1 0.020 None 1.000 2 2011 2015
CUI: C0266537
Disease: Congenital lamellar cataract
Congenital lamellar cataract
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 18 6 0.110 None 1.000 1 2018 2018
CUI: C1852438
Disease: CATARACT, COPPOCK-LIKE
CATARACT, COPPOCK-LIKE
disease Eye Diseases Disease or Syndrome 20 1 0.330 None 1.000 3 2003 2012
CUI: C0524524
Disease: Pseudoaphakia
Pseudoaphakia
disease Eye Diseases Disease or Syndrome 28 0.010 None 1.000 1 2018 2018
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 30 30 0.010 None 1.000 1 2007 2007
CUI: C0029531
Disease: Other cataract
Other cataract
disease Eye Diseases Disease or Syndrome 32 0.200 None 1.000 1 2005 2005
CUI: C1843496
Disease: Bilateral microphthalmos
Bilateral microphthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 35 11 0.010 None 1.000 1 2018 2018
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract
disease Eye Diseases Disease or Syndrome 39 11 0.300 None 1.000 3 2005 2011
CUI: C1861821
Disease: CATARACT, MARNER TYPE
CATARACT, MARNER TYPE
disease Eye Diseases Disease or Syndrome 63 5 0.110 None 1.000 1 2018 2018
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract
disease Eye Diseases Disease or Syndrome 67 9 0.300 None 1.000 1 1 2010 2010
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract
disease Eye Diseases Disease or Syndrome 69 11 0.300 None 1.000 3 2005 2011
CUI: C0036646
Disease: Age-related cataract
Age-related cataract
disease Eye Diseases Acquired Abnormality 92 15 0.030 None 1.000 3 2011 2017
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 19 6 2005 2019
CUI: C0266544
Disease: Microcornea
Microcornea
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 129 10 0.010 None 1.000 1 2008 2008
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder)
disease Eye Diseases Disease or Syndrome 166 37 0.070 None 1.000 7 2 2004 2019
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 2012 2012
CUI: C0018799
Disease: Heart Diseases
Heart Diseases
group Cardiovascular Diseases Disease or Syndrome 537 45 0.010 None 1.000 1 2016 2016