BNC1, basonuclin 1, 646

N. diseases: 21; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.020 GeneticVariation disease BEFREE Previously we discovered a heterozygous BNC1 truncation mutation in a premature ovarian insufficiency pedigree. 31065688 2020
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.020 Biomarker disease BEFREE Basonuclin 1 deficiency is a cause of primary ovarian insufficiency. 30010909 2018