NOTCH2, notch receptor 2, 4853

N. diseases: 384; N. variants: 30
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 The results have demonstrated for the first time that NOTCH2 mutations contribute to POI etiology. 30304577 2019