Source: GENOMICS_ENGLAND

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: 80036
Gene Symbol: TRPM3
TRPM3 		transient receptor potential cation channel subfamily M member 3 0.663 0.769 5.7E-07
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.300 moderate 1.000 2 0 2017 2019