Disease: Intermenstrual heavy bleeding ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0232943
Disease: Intermenstrual heavy bleeding
Intermenstrual heavy bleeding 		0.010 GeneticVariation phenotype BEFREE To the best of our knowledge, this is the first female patient with adult-onset VWMD suffering from long-term menometrorrhagia attributed to the c.254 T > A and c.496A > G mutations in the EIF2B2 gene; the c.496A > G mutation has not been reported in previous studies. 31438897 2019