Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0752251
Disease: Muscle Disease Manifestations
Muscle Disease Manifestations
0.300 Biomarker phenotype CTD_human Human triosephosphate isomerase deficiency resulting from mutation of Phe-240. 8503454 1993
CUI: C0752251
Disease: Muscle Disease Manifestations
Muscle Disease Manifestations
0.300 Biomarker phenotype CTD_human Human triose-phosphate isomerase deficiency: a single amino acid substitution results in a thermolabile enzyme. 2876430 1986