GJA4, gap junction protein alpha 4, 2701

N. diseases: 39; N. variants: 5
Disease: Ovarian Failure, Premature ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.010 GeneticVariation disease BEFREE A single Cx37 variant absent in the control population was identified, namely a c.946G>A heterozygous substitution leading to a p.Gly316Ser variant that was present in two POI patients. 29207017 2018