|
Abnormal lactate dehydrogenase activity
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
anaphylaxis
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
In addition, although both patients with ISMs(-) and patients with nc-MCAD presented with idiopathic and allergen-induced anaphylaxis, the former showed a higher frequency of men, cardiovascular symptoms, and insect bite as a trigger, together with greater sBt.
|
20434205 |
2010 |
|
Arthritis, Psoriatic
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Additionally, 1,25(OH)2D significantly increased ATP levels and gene expression related to mitochondrial function such as carnitine palmitoyltransferase 1 (CPT1), peroxisome proliferator-activated receptor α (PPARα), very long-chain acyl-CoA dehydrogenase (VLCAD), long-chain acyl-CoA dehydrogenase (LCAD), medium-chain acyl-CoA dehydrogenase (MCAD), uncoupling protein 2 (UCP2), and UCP3 and the vitamin D pathway including 25-dihydroxyvitamin D3 24-hydroxylase (CYP24) and 25-hydroxyvitamin D3 1-alpha-hydroxylase (CYP27) in PA-treated C2C12 myotubes.
|
31744213 |
2019 |
|
Ataxia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Blood spots
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
To determine the potential risk of metabolic decompensation in newborns with elevations of diagnostic metabolites (octanoylcarnitine>0.3, but <1 micromol/L), we investigated the relationship between octanoylcarnitine (C8) concentration in neonatal blood spots and the 985A>G MCAD genotype.
|
14970748 |
2004 |
|
Blood spots
|
0.020 |
Biomarker
|
disease |
BEFREE |
Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene.
|
1769118 |
1991 |
|
Breast Carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Here, the author show that caspase-1 promotes TAMs differentiation by attenuating medium-chain acyl-CoA dehydrogenase activity and that inhibition of this axis results in suppression of tumour growth in a transgenic mouse model of breast cancer.
|
28974683 |
2017 |
|
Cachexia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Carcinogenesis
|
0.010 |
AlteredExpression
|
phenotype |
BEFREE |
Survival analysis showed the high expression of CENPE, KIF20A, KIF4A, MELK, NCAPG, NDC80, NUF2, TOP2A, TPX2 and UBE2C, and low expression of ACADM gene could be involved in the carcinogenesis, invasion or recurrence of ccRCC.
|
31788359 |
2019 |
|
Cardiac Arrhythmia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Cardiomegaly
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Carnitine deficiency
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Central neuroblastoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Our findings indicate that the aurora kinase inhibitor could cause metabolic imbalance, possibly by disturbing carbohydrate and fatty acid metabolic pathways, and ACADM may be a potential target in MNA neuroblastoma.
|
31560547 |
2019 |
|
Cerebral Edema
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Childhood Neuroblastoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Our findings indicate that the aurora kinase inhibitor could cause metabolic imbalance, possibly by disturbing carbohydrate and fatty acid metabolic pathways, and ACADM may be a potential target in MNA neuroblastoma.
|
31560547 |
2019 |
|
Colorectal Carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Survival analysis of patients in the CRC dataset from The Cancer Genome Atlas (TCGA) revealed that higher expression of these 7 genes, especially CPT2, ACAA2 and ACADM, was associated with better prognosis (<i>p</i> = 0.034, <i>p</i> = 0.00058, <i>p</i> = 0.039, <i>p</i> = 0.04).
|
28977850 |
2017 |
|
Comatose
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Congestive heart failure
|
0.030 |
AlteredExpression
|
disease |
BEFREE |
In contrast, the activity and immunodetectable levels of MCAD enzyme were not significantly reduced until the HF stage, indicating additional compensatory control at the translational or post-translational levels in the hypertrophied but non-failing ventricle.
|
9852194 |
1998 |
|
Congestive heart failure
|
0.030 |
AlteredExpression
|
disease |
BEFREE |
Importantly, treatment with AS-IV (CHF + AS-IV group) showed improved heart function and structure, increased expression of PPARα, MCAD, and MCPT1 and improved FFA utilization in comparison with CHF group.
|
29301869 |
2018 |
|
Congestive heart failure
|
0.030 |
AlteredExpression
|
disease |
BEFREE |
In contrast, the activity and steady-state levels of medium-chain acyl-CoA dehydrogenase, which catalyzes a rate-limiting step in FAO, were not significantly reduced until the HF stage, indicating additional control at the translational or post-translational levels in the hypertrophied but nonfailing ventricle.
|
8941110 |
1996 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Literature retrieval results showed the hub gene NDC80, CENPE and ACADM might be novel targets for the diagnosis, clinical treatment and prognosis of ccRCC.
|
31788359 |
2019 |
|
Creatine phosphokinase serum increased
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Decreased liver function
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Decreased plasma total carnitine
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Delayed speech and language development
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|