Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225402
Disease: PREMATURE OVARIAN FAILURE 10
PREMATURE OVARIAN FAILURE 10 		0.600 GeneticVariation disease UNIPROT Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability. 25437880 2015
CUI: C4225402
Disease: PREMATURE OVARIAN FAILURE 10
PREMATURE OVARIAN FAILURE 10 		0.600 CausalMutation disease CLINVAR
CUI: C4225402
Disease: PREMATURE OVARIAN FAILURE 10
PREMATURE OVARIAN FAILURE 10 		0.600 Biomarker disease CTD_human
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.340 AlteredExpression disease BEFREE Our objective was to characterize MCM 8 and 9 gene expression in the menstrual cycle, and to compare MCM 8/9 expression in POI vs normo-ovulatory women. 30276597 2019
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.340 GeneticVariation disease BEFREE Mutations in MCM8/9 correlate principally with primary ovarian failure/insufficiency (POF/POI) and infertility indicating a meiotic defect. 30743181 2019
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.340 Biomarker disease BEFREE MCM8 was sequenced in 155 POI participants, whereas MCM9 was sequenced in 151 participants. 27802094 2017
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.340 GeneticVariation disease BEFREE Our result suggests novel mutations p. H317L and p. H601R in the MCM8 gene are potentially causative for POI by dysfunctional DNA repair. 27573988 2016
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.340 Biomarker disease GENOMICS_ENGLAND MCM8- and MCM9-deficient mice reveal gametogenesis defects and genome instability due to impaired homologous recombination. 22771120 2012
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.130 AlteredExpression disease BEFREE Minichromosome maintenance complex component 8 and 9 gene expression in the menstrual cycle and unexplained primary ovarian insufficiency. 30276597 2019
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.130 GeneticVariation disease BEFREE New MCM8 mutation associated with premature ovarian insufficiency and chromosomal instability in a highly consanguineous Tunisian family. 28863940 2017
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.130 GeneticVariation disease BEFREE Minichromosome maintenance complex component 8 mutations cause primary ovarian insufficiency. 27573988 2016
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.130 Biomarker disease HPO
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.110 GeneticVariation disease BEFREE Five variants were previously reported to confer risk of various malignant or benign tumors (rs78378222 in TP53, rs10069690 in TERT, rs1800057 and rs1801516 in ATM, and rs7907606 at OBFC1) and four signals are located at established risk loci for hormone-related traits (endometriosis and breast cancer) at 1q36.12 (CDC42/WNT4), 2p25.1 (GREB1), 20p12.3 (MCM8), and 6q26.2 (SYNE1/ESR1). 30194396 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.110 GeneticVariation disease GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
CUI: C0025323
Disease: Menorrhagia
Menorrhagia 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis. 31649266 2019
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		0.100 GeneticVariation group GWASCAT Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis. 31649266 2019
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma 		0.100 GeneticVariation disease GWASCAT Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis. 31649266 2019
CUI: C4048548
Disease: Anti-Mullerian Hormone Measurement
Anti-Mullerian Hormone Measurement 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of anti-Müllerian hormone levels in pre-menopausal women of late reproductive age and relationship with genetic determinants of reproductive lifespan. 30649302 2019
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		0.100 GeneticVariation group GWASCAT Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits. 30194396 2018
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.100 GeneticVariation phenotype GWASCAT Elucidating the genetic architecture of reproductive ageing in the Japanese population. 29773799 2018
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma 		0.100 GeneticVariation disease GWASCAT Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits. 30194396 2018
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.100 GeneticVariation phenotype GWASCAT Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair. 26414677 2015
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.100 GeneticVariation phenotype GWASDB A genome-wide association study of early menopause and the combined impact of identified variants. 23307926 2013
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.100 GeneticVariation phenotype GWASCAT A genome-wide association study of early menopause and the combined impact of identified variants. 23307926 2013