DMC1, DNA meiotic recombinase 1, 11144

N. diseases: 11; N. variants: 3
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 		0.030 GeneticVariation disease BEFREE We identified a novel homozygous missense mutation (NM_007068.3: c.106G>A, p.Asp36Asn) in <i>DMC1,</i> which cosegregated with NOA and POI phenotypes in this family. 29331980 2018
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.030 GeneticVariation disease BEFREE The coding region of the disrupted meiotic cDNA gene (DMC1) was examined in 192 Chinese women with premature ovarian failure. 23265958 2013
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.030 GeneticVariation disease LHGDN Another POF patient of African origin showed a homozygous nucleotide change in the tenth of DMC1 gene that led to an alteration of the amino acid composition of the protein (M200V). 18166824 2008
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.030 GeneticVariation disease BEFREE Another POF patient of African origin showed a homozygous nucleotide change in the tenth of DMC1 gene that led to an alteration of the amino acid composition of the protein (M200V). 18166824 2008