Source: GENOMICS_ENGLAND

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 Biomarker GENOMICS_ENGLAND In this report, we describe three (two familial and one sporadic) non-consanguineous cases presenting with ODDD features in whom we identified novel missense heterozygous mutations of the GJA1 gene: c.317T>G (p. L106R), c.G139C (p.D47H), and c.C257A (p.S86Y). 24508941

2014
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		1.000 Biomarker GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685

2014
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		1.000 Biomarker GENOMICS_ENGLAND A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family. 23550541

2013
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		1.000 Biomarker GENOMICS_ENGLAND Oculodentodigital dysplasia: new ocular findings and a novel connexin 43 mutation. 21670345

2011
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		1.000 Biomarker GENOMICS_ENGLAND Detailed phenotyping of Gja1(Jrt/+) eyes offers a framework for elucidating human ODDD ocular disease mechanisms and evaluating new treatments designed to protect ocular synaptic network integrity. 21273537

2011
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		1.000 Biomarker GENOMICS_ENGLAND A family with oculodentodigital dysplasia. 1057461

1975
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		1.000 Biomarker GENOMICS_ENGLAND