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: C3810367
Disease: PREMATURE OVARIAN FAILURE 8
PREMATURE OVARIAN FAILURE 8 		0.400 CausalMutation disease CLINVAR
CUI: C3810367
Disease: PREMATURE OVARIAN FAILURE 8
PREMATURE OVARIAN FAILURE 8 		0.400 Biomarker disease CTD_human
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.350 Biomarker disease BEFREE In conclusion, this observation shows the necessity to perform the genetic study of POI worldwide including STAG3. 31363903 2019
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.350 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: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.350 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: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.350 GeneticVariation disease BEFREE This is the first report of splice-site mutation of STAG3 gene causes POI in 2 Han Chinese patients. 28393351 2018
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.350 Biomarker disease GENOMICS_ENGLAND Identification of an additional family highlights the importance of STAG3 in POI pathogenesis and suggests it should be evaluated in families affected with POI. 26059840 2016
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.350 Biomarker disease BEFREE Identification of an additional family highlights the importance of STAG3 in POI pathogenesis and suggests it should be evaluated in families affected with POI. 26059840 2016
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
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 GeneticVariation disease GWASCAT Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk. 30617256 2019
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.100 GeneticVariation disease GWASCAT Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression. 29071344 2017
CUI: C0236664
Disease: Alcohol-Related Disorders
Alcohol-Related Disorders 		0.100 GeneticVariation group GWASCAT Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression. 29071344 2017
CUI: C0236970
Disease: Alcohol-Induced Disorders
Alcohol-Induced Disorders 		0.100 GeneticVariation group GWASCAT Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression. 29071344 2017
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.100 GeneticVariation disease GWASCAT Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression. 29071344 2017
CUI: C0441683
Disease: Hormone measurement
Hormone measurement 		0.100 GeneticVariation group GWASDB Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms. 21533175 2011
CUI: C0021361
Disease: Female infertility
Female infertility 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		0.100 Biomarker disease HPO