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: C0018522
Disease: Hallermann's Syndrome
Hallermann's Syndrome 		0.520 GeneticVariation BEFREE Recessive GJA1 mutations cause Hallermann-Streiff syndrome, a disorder showing substantial overlap with ODDD. 21871435

2012
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C0018522
Disease: Hallermann's Syndrome
Hallermann's Syndrome 		0.520 Biomarker GENOMICS_ENGLAND Oculodentodigital dysplasia: new ocular findings and a novel connexin 43 mutation. 21670345

2011
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C0018522
Disease: Hallermann's Syndrome
Hallermann's Syndrome 		0.520 GeneticVariation UNIPROT GJA1 homozygous hypomorphic mutations can result in a phenotype in the HSS/ODDD spectrum. 14974090

2004
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C0018522
Disease: Hallermann's Syndrome
Hallermann's Syndrome 		0.520 GeneticVariation BEFREE GJA1 homozygous hypomorphic mutations can result in a phenotype in the HSS/ODDD spectrum. 14974090

2004
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C0018522
Disease: Hallermann's Syndrome
Hallermann's Syndrome 		0.520 GeneticVariation LHGDN GJA1 homozygous hypomorphic mutations can result in a phenotype in the HSS/ODDD spectrum. 14974090

2004