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: 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 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: 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 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 GeneticVariation CLINVAR