DMC1, DNA meiotic recombinase 1, 11144

N. diseases: 11; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1384583
Disease: Congenital absence of germinal epithelium of testes
Congenital absence of germinal epithelium of testes 		0.200 Biomarker disease MGD
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.100 GeneticVariation phenotype GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.100 GeneticVariation phenotype GWASCAT Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. 28334899 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 Biomarker group BEFREE The human tumor suppressor BRCA2 is a mediator of HR as it actively facilitates the DNA transactions of the recombination proteins RAD51 and DMC1 in a variety of ways: It stabilizes ssDNA-RAD51/DMC1 nucleoprotein filaments. 29458771 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 Biomarker group BEFREE Furthermore, loss of DMC1 reduced tumor growth and prolonged survival in vivo. 25906155 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 Biomarker group BEFREE Furthermore, the identified hub genes of the individual GRNs, e.g., HID1/DMC1 (tumor development), RNF17/TDRD4 (cancer antigen) and CYP4A11 (angiogenesis/ metastasis) are known cancer associated markers. 25971253 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 Biomarker group BEFREE The interactions of BRCA2 with RAD51 and DMC1 lead us to suggest that the BRCA2 tumour suppressor is a universal regulator of recombinase actions. 18066084 2007
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
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 Biomarker phenotype BEFREE DMC1 facilitates the search for homology between the homologous chromosomes and is followed by DNA strand invasion and strand exchange to produce a linkage between the two homologous chromosomes. 31127583 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 Biomarker phenotype BEFREE However, the mechanism by which SYCP3 regulates RAD51- and DMC1-mediated strand invasion remains elusive. 28745000 2017
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.020 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: C0025322
Disease: Premature Menopause
Premature Menopause 		0.020 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
CUI: C0940937
Disease: precancerous lesions
precancerous lesions 		0.010 Biomarker phenotype BEFREE In this study, we aimed to evaluate the association of 10 single nucleotide polymorphisms (SNPs) of the Fas cell surface death receptor (<i>FAS</i>), trinucleotide repeat containing 6C (<i>TNRC6C</i>), transmembrane channel like 8 (<i>TMC8</i>), DNA meiotic recombinase 1 (<i>DMC1</i>), deoxyuridine triphosphatase (<i>DUT</i>), sulfatase 1 (<i>SULF1</i>), 2'-5-oligoadenylate synthetase 3 (<i>OAS3</i>), general transcription factor IIH subunit 4 (<i>GTF2H4</i>) and interferon gamma (<i>IFNG</i>) genes with susceptibility to precancerous lesions and cervical cancer. 30127996 2018
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia 		0.010 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: C0038358
Disease: Gastric ulcer
Gastric ulcer 		0.010 Biomarker disease BEFREE The gastroprotective activity of MECR (30-300 mg/kg, p.o) and DMC (1 and 3 mg/kg, p.o) was determined by ethanol/HCl-induced gastric ulcers in mice. 28365824 2017
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.010 Biomarker disease BEFREE The colocalization of RAD51/DMC1 with BLM and the statistically significant excess of BLM signals in the synapsed pseudoautosomal region of the X-Y chromosomes, which is a recombinational hot spot, provide indications that BLM protein may function in the meiotic recombination process. 10652259 2000