Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 GeneticVariation UNIPROT Overall, we found 52 different pathogenic PMS2 variants explaining 121 Lynch syndrome and nine CMMRD patients. 27435373

2016
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 GeneticVariation UNIPROT Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation. 17557300

2007
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 GeneticVariation UNIPROT Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies. 17440981

2007
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 GeneticVariation UNIPROT Furthermore, in the family with Turcot syndrome, in which the first inherited PMS2 mutation (R134X) was described, a further truncating mutation was identified on the other allele, in exon 13. 15077197

2004
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 GeneticVariation UNIPROT The interaction of DNA mismatch repair proteins with human exonuclease I. 11427529

2001
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 GeneticVariation UNIPROT Drastic genetic instability of tumors and normal tissues in Turcot syndrome. 9419979

1997
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 GeneticVariation UNIPROT The molecular basis of Turcot's syndrome. 7661930

1995
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 GeneticVariation UNIPROT The molecular basis of Turcot's syndrome. 7661930

1995