MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Disease: Oligospermia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028960
Disease: Oligospermia
Oligospermia 		0.030 GeneticVariation disease BEFREE The rs1800734 and rs4647269 in MLH1 were found to be significantly different between severe oligozoospermia and control groups (p < 0.05). 31342644 2019
CUI: C0028960
Disease: Oligospermia
Oligospermia 		0.030 PosttranslationalModification disease BEFREE Whether hypermethylation of the MLH1 promoter plays a role in repairing relevant mismatches of sperm DNA strands in idiopathic oligozoospermia warrants further investigation. 28983945 2018
CUI: C0028960
Disease: Oligospermia
Oligospermia 		0.030 GeneticVariation disease BEFREE One intronic SNP in MLH1 (rs4647269) and two non-synonymous SNPs in PMS2 (rs1059060, Ser775Asn) and MSH5 (rs2075789, rs2075789;rs864622096;587781908;rs786203623;rs587781908;rs1248142939;s587781908" genes_norm="4292;4439;5395">Pro29Ser) seem to be risk factors for the development of azoospermia or oligozoospermia. 22594646 2012