Source: INFERRED

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: 5162
Gene Symbol: PDHB
PDHB
pyruvate dehydrogenase E1 subunit beta 0.711 0.385 0.15
Pyruvate Dehydrogenase E1-Beta Deficiency
disease 0.700 strong 1.000 0 2 2004 2016
Entrez Id: 5162
Gene Symbol: PDHB
PDHB
pyruvate dehydrogenase E1 subunit beta 0.711 0.385 0.15
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.100 None 0 0
Entrez Id: 5162
Gene Symbol: PDHB
PDHB
pyruvate dehydrogenase E1 subunit beta 0.711 0.385 0.15
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0