Source: CLINGEN

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: 6949
Gene Symbol: TCOF1
TCOF1 		treacle ribosome biogenesis factor 1 0.550 0.808 0.95
CUI: C0265241
Disease: Franceschetti-Klein syndrome
Franceschetti-Klein syndrome 		disease 0.300 definitive 1.000 7 0 1996 2019