Disease: Turcot syndrome (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267608161
rs267608161
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0265325
Disease:
Turcot syndrome (disorder) 		0.710 GeneticVariation UNIPROT Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome. 27435373 2016
dbSNP: rs267608161
rs267608161
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0265325
Disease:
Turcot syndrome (disorder) 		0.710 GeneticVariation BEFREE The hPMS2 mutation E705K is associated with Turcot syndrome. 17029773 2007
dbSNP: rs267608161
rs267608161
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0265325
Disease:
Turcot syndrome (disorder) 		0.710 GeneticVariation UNIPROT Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation. 17557300 2007
dbSNP: rs267608161
rs267608161
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0265325
Disease:
Turcot syndrome (disorder) 		0.710 GeneticVariation UNIPROT Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. 15077197 2004
dbSNP: rs267608161
rs267608161
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0265325
Disease:
Turcot syndrome (disorder) 		0.710 GeneticVariation UNIPROT Drastic genetic instability of tumors and normal tissues in Turcot syndrome. 9419979 1997
dbSNP: rs267608161
rs267608161
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0265325
Disease:
Turcot syndrome (disorder) 		0.710 GeneticVariation UNIPROT The molecular basis of Turcot's syndrome. 7661930 1995