Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C1861366
Disease: SYNDACTYLY, TYPE III
SYNDACTYLY, TYPE III 		0.720 GeneticVariation BEFREE Mutations in Cx43 cause several dominant and recessive disorders involving developmental abnormalities of bone such as dominant and recessive oculodentodigital dysplasia (ODDD; MIM #164200, 257850) and isolated syndactyly type III (MIM #186100), the characteristic digital anomaly in ODDD. 23951358

2013
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C1861366
Disease: SYNDACTYLY, TYPE III
SYNDACTYLY, TYPE III 		0.720 GeneticVariation BEFREE Here we report on two patients with GJA1 mutations presenting with cardiac malformations and type III syndactyly. 24115525

2013
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C1861366
Disease: SYNDACTYLY, TYPE III
SYNDACTYLY, TYPE III 		0.720 Biomarker GENOMICS_ENGLAND Oculodentodigital dysplasia: new ocular findings and a novel connexin 43 mutation. 21670345

2011
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C1861366
Disease: SYNDACTYLY, TYPE III
SYNDACTYLY, TYPE III 		0.720 GermlineCausalMutation ORPHANET Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly. 14729836

2004
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C1861366
Disease: SYNDACTYLY, TYPE III
SYNDACTYLY, TYPE III 		0.720 GeneticVariation UNIPROT Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly. 14729836

2004
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C1861366
Disease: SYNDACTYLY, TYPE III
SYNDACTYLY, TYPE III 		0.720 GermlineCausalMutation ORPHANET Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. 12457340

2003
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: C1861366
Disease: SYNDACTYLY, TYPE III
SYNDACTYLY, TYPE III 		0.720 Biomarker CTD_human