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: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		disease Nervous System Diseases Disease or Syndrome 89 17 0.020 None 1.000 2 2007 2018
CUI: C1859972
Disease: ADRENOCORTICAL CARCINOMA, HEREDITARY
ADRENOCORTICAL CARCINOMA, HEREDITARY 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 13 7 0.010 None < 0.001 1 2019 2019
CUI: C0036646
Disease: Age-related cataract
Age-related cataract 		disease Eye Diseases Acquired Abnormality 92 15 0.040 None 1.000 4 2011 2018
CUI: C0001857
Disease: AIDS related complex
AIDS related complex 		disease Infections; Immune System Diseases Disease or Syndrome 100 43 0.010 None 1.000 1 3 2018 2018
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 89 6 0.010 None 1.000 1 2018 2018
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 88 6 0.100 None 0
CUI: C0003864
Disease: Arthritis
Arthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1072 69 0.010 None 1.000 1 2018 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.100 None 0
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		disease Cardiovascular Diseases Congenital Abnormality 154 23 0.100 None 0
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.020 None 1.000 2 2010 2017
CUI: C1867131
Disease: Broad hallux
Broad hallux 		phenotype Finding 48 14 0.100 None 0
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		phenotype Finding 67 11 0.100 None 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		phenotype Finding 123 13 0.100 None 0
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.500 None 1.000 37 1 1998 2019
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: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT 		disease Eye Diseases Disease or Syndrome 14 10 0.030 None 1.000 3 2006 2013
CUI: C1852449
Disease: Cataract, Autosomal Dominant Nuclear
Cataract, Autosomal Dominant Nuclear 		disease Eye Diseases Disease or Syndrome 2 0.010 None 1.000 1 2010 2010
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 2008 2008
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: 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: 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: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy 		disease Nervous System Diseases Disease or Syndrome 33 13 0.020 None 1.000 2 2007 2018
CUI: C2675897
Disease: Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb
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: 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