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: 100532732
Gene Symbol: MSH5-SAPCD1
MSH5-SAPCD1
MSH5-SAPCD1 readthrough (NMD candidate) 0.760 0.423
CUI: C0202075
Disease: 17 Hydroxyprogesterone measurement
17 Hydroxyprogesterone measurement
phenotype 0.100 None 1.000 1 1 2019 2019