GJA8, gap junction protein alpha 8, 2703

N. diseases: 82; N. variants: 21
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 Biomarker group BEFREE Visual Electrofluorochromic Detection of Cancer Cell Surface Glycoprotein on a Closed Bipolar Electrode Chip. 31135138 2019
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.010 GeneticVariation disease BEFREE Furthermore, the screening of GJA8 structural variants in a subgroup of 188 individuals identified heterozygous 1q21 microdeletions in five families with coloboma and other ocular and/or extraocular findings. 29464339 2019
CUI: C0015393
Disease: Eye Abnormalities
Eye Abnormalities 		0.010 GeneticVariation group BEFREE Following screening of GJA8 in a cohort of 426 individuals with severe congenital eye anomalies, primarily anophthalmia, microphthalmia and coloboma, we identified four known [p.(Thr39Arg), p.(Trp45Leu), p.(Asp51Asn), and p.(Gly94Arg)] and two novel [p.(Phe70Leu) and p.(Val97Gly)] likely pathogenic variants in seven families. 29464339 2019
CUI: C0700501
Disease: Congenital nystagmus
Congenital nystagmus 		0.010 GeneticVariation disease BEFREE This is the first time that FRMD7 and GJA8 gene mutations have been linked to the pathogenesis of a family with both CN and congenital cataracts. 30890130 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 Biomarker group BEFREE Visual Electrofluorochromic Detection of Cancer Cell Surface Glycoprotein on a Closed Bipolar Electrode Chip. 31135138 2019
CUI: C1859972
Disease: ADRENOCORTICAL CARCINOMA, HEREDITARY
ADRENOCORTICAL CARCINOMA, HEREDITARY 		0.010 GeneticVariation disease BEFREE A novel missense mutation in GJA8 (c.T217C) in ADCC patients causes a serine-to-proline substitution at residue 73 of connexin 50 (Cx50); no mutation was found in unaffected family members and unrelated healthy individuals. 31844091 2019
CUI: C0001857
Disease: AIDS related complex
AIDS related complex 		0.010 GeneticVariation disease BEFREE In conclusion, this study identified the genetic susceptibility of GJA8 polymorphisms on ARC and provides new clues for fully understanding the pathological mechanism of GJA8 variants in affecting lens opacity. 30349978 2018
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.010 GeneticVariation disease BEFREE A novel nondeleterious missense variation was identified in the GJA8 gene in a patient with anophthalmia. 29461140 2018
CUI: C0003864
Disease: Arthritis
Arthritis 		0.010 Biomarker disease BEFREE Between 1996 and 2017 153 different Polish dairy goat herds counting at least 20 adult goats were serologically screened for CAE and their owners were asked about their opinion on the occurrence of arthritis (never, rarely, often). 30212571 2018
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 AlteredExpression disease BEFREE This study assesses cholesterol metabolism and Cx46, Cx50, and Cx43 expression in interstitium- and seminiferous tubule-enriched fractions of leptin-deficient ( ob/ob) and leptin receptor-deficient ( db/db) mice, two type 2 diabetes and obesity models associated with infertility. 28851737 2018
CUI: C0042345
Disease: Varicosity
Varicosity 		0.010 Biomarker disease BEFREE To analyze the cost-effectiveness of current technologies (conservative care [CONS], high-ligation surgery [HL/S], ultrasound-guided foam sclerotherapy [UGFS], endovenous laser ablation [EVLA], and radiofrequency ablation [RFA]) and emerging technologies (mechanochemical ablation [MOCA] and cyanoacrylate glue occlusion [CAE]) for treatment of varicose veins over 5 years. 30098668 2018
CUI: C0271160
Disease: Cortical cataract
Cortical cataract 		0.010 GeneticVariation disease BEFREE In this study, three GJA8-tagged single nucleotide polymorphisms related to an increased ARC risk were identified: rs2132397 for general ARC under both dominant and additive models; rs7541950 for general ARC under both recessive and additive models; and rs6657114 for cortical cataract under the recessive model. 30349978 2018
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.010 GeneticVariation disease BEFREE We performed a comprehensive cognitive and neuropsychiatric evaluation with video-EEG on 61 adults with IGE (JME 19; IGE with generalized tonic-clonic seizures [GTCS] alone [IGE-GTCS] 22; childhood absence epilepsy [CAE] or juvenile absences epilepsy [JAE] persisting in adulthood 20). 30408705 2018
CUI: C0004936
Disease: Mental disorders
Mental disorders 		0.010 GeneticVariation group BEFREE This 6-month prospective, uncontrolled trial of CAE-L in 30 recently homeless individuals with SMI assessed adherence using the Tablets Routine Questionnaire, injection frequency, and SMI symptoms measured by the Positive and Negative Syndrome Scale, Brief Psychiatric Rating Scale, and Clinical Global Impressions. 28930768 2017
CUI: C0028754
Disease: Obesity
Obesity 		0.010 GeneticVariation disease BEFREE Then, we assessed the impact of various natural (lactation, annual reproductive cycle, bFGF) and pathological (autoimmune orchitis, diabetes/obesity) conditions associated with altered anterior pituitary hormone secretion on Cx46 and Cx50. 28759642 2017
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.010 GeneticVariation disease BEFREE Spontaneously Hypertensive Rat Chromosome 2 with Mutant Connexin 50 Triggers Divergent Effects on Metabolic Syndrome Components. 28557708 2017
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		0.010 GeneticVariation group BEFREE Such hereditary disorders include nonsyndromic or syndromic deafness (Cx26, Cx30), Charcot Marie Tooth disease (Cx32), occulodentodigital dysplasia and cardiopathies (Cx43), and cataracts (Cx46, Cx50). 27228968 2016
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.010 GeneticVariation group BEFREE Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1. 24281366 2014
CUI: C1852449
Disease: Cataract, Autosomal Dominant Nuclear
Cataract, Autosomal Dominant Nuclear 		0.010 GeneticVariation disease BEFREE This study has identified a novel missense mutation located in the carboxyl terminus of GJA8 (S258F) associated with autosomal dominant nuclear cataract. 20597646 2010
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.010 Biomarker disease BEFREE A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR. 19250818 2009
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.010 Biomarker disease BEFREE A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR. 19250818 2009
CUI: C4023734
Disease: Sutural cataract
Sutural cataract 		0.010 GeneticVariation disease BEFREE We report a p.P88Q mutation in GJA8 associated with Y-sutural cataract in a family of Indian origin. 18587493 2008
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 Biomarker disease BEFREE CAE-MSP analysis was then validated in a second independent gastric cancer population (n = 137). 17971584 2007
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 Biomarker disease BEFREE CAE-MSP analysis was then validated in a second independent gastric cancer population (n = 137). 17971584 2007
CUI: C4023735
Disease: Lamellar pulverulent cataract
Lamellar pulverulent cataract 		0.010 GeneticVariation disease BEFREE A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract. 16397066 2006