LDHA, lactate dehydrogenase A, 3939

N. diseases: 185; N. variants: 0
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 GermlineCausalMutation disease ORPHANET
CUI: C2931743
Disease: Lactate dehydrogenase deficiency type A
Lactate dehydrogenase deficiency type A 		0.600 Biomarker disease CTD_human
CUI: C0027080
Disease: Myoglobinuria
Myoglobinuria 		0.400 Biomarker phenotype HPO
CUI: C0221170
Disease: Muscular stiffness
Muscular stiffness 		0.110 Biomarker phenotype HPO
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.100 Biomarker phenotype HPO
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		0.100 Biomarker phenotype HPO
CUI: C0037763
Disease: Spasm
Spasm 		0.100 Biomarker phenotype HPO
CUI: C0231528
Disease: Myalgia
Myalgia 		0.100 Biomarker phenotype HPO
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.100 Biomarker phenotype HPO
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		0.100 Biomarker phenotype HPO
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.100 Biomarker disease HPO
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		0.100 Biomarker phenotype HPO
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate 		0.100 Biomarker phenotype HPO
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: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.300 Biomarker group GENOMICS_ENGLAND Estimation of the gene frequency of lactate dehydrogenase subunit deficiencies. 6517049 1984
CUI: C0037284
Disease: Skin lesion
Skin lesion 		0.020 GeneticVariation group BEFREE Erythematosquamous skin lesions in hereditary lactate dehydrogenase M-subunit deficiency. 3789777 1986
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.300 Biomarker disease CTD_human Effect of very early intravenous streptokinase infusion in patients with evolving myocardial infarction. 3279722 1988
CUI: C0221170
Disease: Muscular stiffness
Muscular stiffness 		0.110 Biomarker phenotype BEFREE Otherwise, patients with a lactate dehydrogenase M-subunit deficiency do not show muscle stiffness and myoglobinuria under ordinary circumstances. 3383424 1988
CUI: C0026848
Disease: Myopathy
Myopathy 		0.010 Biomarker group BEFREE Lactate dehydrogenase M-subunit deficiency: a new type of hereditary exertional myopathy. 3383424 1988
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: C0037284
Disease: Skin lesion
Skin lesion 		0.020 AlteredExpression group BEFREE Hereditary lactate dehydrogenase M-subunit deficiency: lactate dehydrogenase activity in skin lesions and in hair follicles. 1999544 1991
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.010 Biomarker group BEFREE The lactate dehydrogenase M subunit fraction was increased to a similar degree in dilated cardiomyopathy and in mitral regurgitation (p < 0.05). 8252591 1993
CUI: C2004489
Disease: Regurgitation
Regurgitation 		0.010 Biomarker phenotype BEFREE The lactate dehydrogenase M subunit fraction was increased to a similar degree in dilated cardiomyopathy and in mitral regurgitation (p < 0.05). 8252591 1993
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.020 Biomarker disease BEFREE The possible biochemical role of the tyrosylphosphorylated LDH-A complexed with ras p21 in cell transformation and progression of human ovarian cancer is worthy of further investigation. 8995558 1997
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.010 Biomarker disease BEFREE The possible biochemical role of the tyrosylphosphorylated LDH-A complexed with ras p21 in cell transformation and progression of human ovarian cancer is worthy of further investigation. 8995558 1997