Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		1.000 GeneticVariation CLINVAR

Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		1.000 CausalMutation CLINVAR

Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C1861366
Disease: SYNDACTYLY, TYPE III
SYNDACTYLY, TYPE III 		0.720 CausalMutation CLINVAR

Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C2931244
Disease: Craniometaphyseal dysplasia, autosomal recessive type
Craniometaphyseal dysplasia, autosomal recessive type 		0.700 CausalMutation CLINVAR

Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C3151468
Disease: PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1
PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 		0.620 CausalMutation CLINVAR

Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C2749477
Disease: Oculodentodigital Dysplasia, Autosomal Recessive
Oculodentodigital Dysplasia, Autosomal Recessive 		0.600 GeneticVariation CLINVAR

Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C2749477
Disease: Oculodentodigital Dysplasia, Autosomal Recessive
Oculodentodigital Dysplasia, Autosomal Recessive 		0.600 CausalMutation CLINVAR GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. 19338053

2009
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C2749477
Disease: Oculodentodigital Dysplasia, Autosomal Recessive
Oculodentodigital Dysplasia, Autosomal Recessive 		0.600 CausalMutation CLINVAR Novel mutations in GJA1 cause oculodentodigital syndrome. 18946008

2008
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C2749477
Disease: Oculodentodigital Dysplasia, Autosomal Recessive
Oculodentodigital Dysplasia, Autosomal Recessive 		0.600 CausalMutation CLINVAR Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia. 27226478

2016
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C2749477
Disease: Oculodentodigital Dysplasia, Autosomal Recessive
Oculodentodigital Dysplasia, Autosomal Recessive 		0.600 CausalMutation CLINVAR The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans. 18003637

2008
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C2749477
Disease: Oculodentodigital Dysplasia, Autosomal Recessive
Oculodentodigital Dysplasia, Autosomal Recessive 		0.600 CausalMutation CLINVAR Identification of the calmodulin binding domain of connexin 43. 17901047

2007
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C2749477
Disease: Oculodentodigital Dysplasia, Autosomal Recessive
Oculodentodigital Dysplasia, Autosomal Recessive 		0.600 CausalMutation CLINVAR Palmoplantar keratosis in oculodentodigital dysplasia with a GJA1 point mutation out of the C-terminal region of connexin 43. 25388818

2014
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C4479619
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3 		0.600 CausalMutation CLINVAR

Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C4551854
Disease: HYPOPLASTIC LEFT HEART SYNDROME 1
HYPOPLASTIC LEFT HEART SYNDROME 1 		0.600 CausalMutation CLINVAR

Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C3275750
Disease: ATRIOVENTRICULAR SEPTAL DEFECT 3
ATRIOVENTRICULAR SEPTAL DEFECT 3 		0.400 CausalMutation CLINVAR

Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.110 GeneticVariation CLINVAR

Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		0.110 GeneticVariation CLINVAR

Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family. 25976645

2015
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR A novel GJA1 mutation identified by whole exome sequencing in a Chinese family with autosomal dominant syndactyly. 27241686

2016
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system? 24133447

2013
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome. 16816024

2006
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. 28106320

2017
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. 19338053

2009
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype. 14974090

2004
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. 12457340

2003