STAG3, stromal antigen 3, 10734

N. diseases: 27; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.150 Biomarker disease BEFREE Our results suggested that POI is caused by pathogenic compound heterozygous variants in the STAG3 gene, supporting the key role of the STAG3 gene in the etiology of primary ovarian insufficiency. 30006057 2019
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.150 GeneticVariation disease BEFREE Sequence variants in STAG3 have been reported to cause meiotic arrest in male and female mice and premature ovarian failure in human females, but not in infertile human males so far. 31682730 2019
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.150 GeneticVariation disease BEFREE Novel STAG3 mutations in a Caucasian family with primary ovarian insufficiency. 31363903 2019
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.150 GeneticVariation disease BEFREE Whole-exome sequencing identifies a homozygous donor splice-site mutation in STAG3 that causes primary ovarian insufficiency. 28393351 2018
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.150 GeneticVariation disease BEFREE STAG3 truncating variant as the cause of primary ovarian insufficiency. 26059840 2016
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.150 GeneticVariation disease CLINVAR
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.150 Biomarker disease HPO