Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
0.120 GeneticVariation phenotype BEFREE These findings expand the phenotypic spectrum of BCS1L mutations, highlight the importance of biochemical analysis of different primary affected tissue and underline that neonatal lactic acidosis with multi-organ involvement may resolve after the newborn period with a relatively spared neurological outcome and survival into adulthood. 26563427 2016
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
0.120 Biomarker phenotype BEFREE A combination of lactacidosis, liver involvement, and Fanconi type renal tubulopathy is common when the complex III assembly factor BCS1L harbors mutations, the most severe disease with consistent genotype-phenotype correlation being the GRACILE syndrome. 21680270 2011
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
0.120 Biomarker phenotype HPO