Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.330 Biomarker disease GENOMICS_ENGLAND A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype. 25691505 2016
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.330 GeneticVariation disease BEFREE He was subsequently found to have multiple colonic polyps and bi-allelic loss of PMS2.Testing for NF-1 was negative. 22848017 2013
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.330 GeneticVariation disease BEFREE Biallelic germline mutations in the mismatch repair genes MLH1, MSH2, MSH6 or PMS2 cause a recessive childhood cancer syndrome characterised by early-onset malignancies and signs reminiscent of neurofibromatosis type 1 (NF1). 19293170 2009
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.330 GeneticVariation disease BEFREE Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1. 17851451 2008