Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.020 GeneticVariation BEFREE One of these probands, however, is also homozygous for the 35delG mutation in the GJB2 gene and a second patient has Down syndrome, which is also associated with hearing impairment. 19027966

2009
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.020 GeneticVariation BEFREE The authors found no evidence for a genetic link between Del(22q11) or Down syndrome and 35delG mutation on the Connexin 26 gene. 15091236

2004