Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
0.110 GeneticVariation phenotype BEFREE A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement. 30358850 2019
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
0.110 Biomarker phenotype HPO