Disease: Failure to Thrive ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.120 GeneticVariation disease BEFREE Moreover, a novel splice site mutation in MPV17 gene (c.461 + 1G > C) was identified in a patient with jaundice, muscle weakness, and failure to thrive who died due to hepatic failure at the age of 4 months. 31664948 2019
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.120 GeneticVariation disease BEFREE Mutations in human MPV17 have been reported in patients with severe mitochondrial DNA (mtDNA) depletion manifesting as early childhood onset failure to thrive, hypoglycemia, encephalopathy and progressive liver failure. 28673863 2017
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.120 Biomarker disease HPO