Source: HPO

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: 594
Gene Symbol: BCKDHB
BCKDHB 		branched chain keto acid dehydrogenase E1 subunit beta 0.682 0.500 4.3E-09
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0