LDHA, lactate dehydrogenase A, 3939

N. diseases: 185; N. variants: 0
Disease: Lactate dehydrogenase deficiency type A ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931743
Disease: Lactate dehydrogenase deficiency type A
Lactate dehydrogenase deficiency type A 		0.600 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C2931743
Disease: Lactate dehydrogenase deficiency type A
Lactate dehydrogenase deficiency type A 		0.600 Biomarker disease GENOMICS_ENGLAND Analysis of genetic mutations in human lactate dehydrogenase-A(M) deficiency using DNA conformation polymorphism in combination with polyacrylamide gradient gel and silver staining. 1953713 1991
CUI: C2931743
Disease: Lactate dehydrogenase deficiency type A
Lactate dehydrogenase deficiency type A 		0.600 Biomarker disease GENOMICS_ENGLAND Estimation of the gene frequency of lactate dehydrogenase subunit deficiencies. 6517049 1984
CUI: C2931743
Disease: Lactate dehydrogenase deficiency type A
Lactate dehydrogenase deficiency type A 		0.600 GermlineCausalMutation disease ORPHANET
CUI: C2931743
Disease: Lactate dehydrogenase deficiency type A
Lactate dehydrogenase deficiency type A 		0.600 Biomarker disease CTD_human