Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
disease 0.800 definitive 0.978 5 13 1995 2020
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
mutL homolog 1 0.399 0.808 3.4E-05
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
disease 0.800 definitive 0.965 3 1 1994 2020