PMS2CL, PMS2 C-terminal like pseudogene, 441194

N. diseases: 4; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 GeneticVariation disease GWASCAT A novel Alzheimer disease locus located near the gene encoding tau protein. 25778476 2016
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.020 GeneticVariation disease BEFREE Hereditary cancer screening (HCS) for germline variants in the 3' exons of PMS2, a mismatch repair gene implicated in Lynch syndrome, is technically challenging due to homology with its pseudogene PMS2CL. 30268105 2018
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.020 GeneticVariation disease BEFREE Hereditary cancer screening (HCS) for germline variants in the 3' exons of PMS2, a mismatch repair gene implicated in Lynch syndrome, is technically challenging due to homology with its pseudogene PMS2CL. 30268105 2018
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.020 GeneticVariation disease BEFREE Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients. 20186688 2010
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.020 GeneticVariation disease BEFREE Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients. 20186688 2010
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma 		0.010 Biomarker disease BEFREE We report here a novel deleterious 11 bp deletion mutation of exon 11 of PMS2 distinguished from PMS2CL in a 34-year-old Japanese female with rectal cancer. 26232782 2015