Source: CLINVAR

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: 79583
Gene Symbol: TMEM231
TMEM231 		transmembrane protein 231 0.554 0.692 3.1E-07
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		disease 0.430 limited 1.000 0 2 2012 2019