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: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C2700265
Disease: Waardenburg Syndrome Type 2
Waardenburg Syndrome Type 2 		disease 0.800 definitive 1.000 9 0 1994 2019
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease 0.300 limited 1.000 1 0 2016 2016