|
Abnormal muscle tone
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Prevalence and architecture of de novo mutations in developmental disorders.
|
28135719 |
2017 |
|
Abnormality of metabolism/homeostasis
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Acute lymphocytic leukemia
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The expression of glycolytic enzyme enolase 2 (ENO2) was found to be closely associated with the clinical features of acute lymphoblastic leukemia (ALL) patients, but its functions remain unclear in ALL.
|
29689546 |
2018 |
|
Adenocarcinoma of lung (disorder)
|
0.300 |
Biomarker
|
disease |
CTD_human |
c-Myc targeted regulators of cell metabolism in a transgenic mouse model of papillary lung adenocarcinoma.
|
27602772 |
2016 |
|
Adult Acute Lymphocytic Leukemia
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The expression of glycolytic enzyme enolase 2 (ENO2) was found to be closely associated with the clinical features of acute lymphoblastic leukemia (ALL) patients, but its functions remain unclear in ALL.
|
29689546 |
2018 |
|
Adult Fibrosarcoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Here we show that the plasmin reductase isolated from conditioned medium of fibrosarcoma cells is the glycolytic enzyme phosphoglycerate kinase.
|
11130727 |
2000 |
|
Adult Liver Carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
A database analysis showed that sorafenib-tolerant persister cells exhibited the increased expression of the glycolytic enzyme hexokinase 2, which is closely related to the poor prognosis in liver cancer.
|
31371980 |
2019 |
|
Alloxan Diabetes
|
0.300 |
Biomarker
|
disease |
CTD_human |
Chronic hyperglycemia, independent of plasma lipid levels, is sufficient for the loss of beta-cell differentiation and secretory function in the db/db mouse model of diabetes.
|
16123366 |
2005 |
|
Alzheimer's Disease
|
0.030 |
Biomarker
|
disease |
BEFREE |
This computational analysis suggests that metabolically-dependent generation of OMP in the brain mitochondria, controlled by many factors that modulate VDAC1-HKI interaction, VDAC's voltage-gating properties and permeability, might represent one of the physiological mechanisms of regulation of the brain energy metabolism and of neuronal death resistance, and might also be involved in various neurodegenerative disorders, such as Alzheimer's disease.
|
30291922 |
2018 |
|
Alzheimer's Disease
|
0.030 |
Biomarker
|
disease |
BEFREE |
Indirect evaluation of glycolytic enzyme activities in postmortem AD brain is not valid because the glucose and amino acid concentrations used in the calculations are not stable after death, and reported values are unrealistically high.
|
30117094 |
2019 |
|
Alzheimer's Disease
|
0.030 |
AlteredExpression
|
disease |
BEFREE |
Since phospho-VDAC and reduced HXKI levels favors a VDAC1 conformational state more prone to the release proapoptotic factors, regulation of the function of this channel may be a promising therapeutic approach to combat AD.
|
20930307 |
2011 |
|
Amyotrophic Lateral Sclerosis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Our results demonstrate that HK1 competes with SOD1 G93A for binding VDAC1, suggesting that in ALS spinal cord the available HK1-binding sites could be used by SOD1 mutants for docking mitochondria, producing thus organelle dysfunction.
|
27721436 |
2016 |
|
Anemia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Expression cloning and sequencing of the cDNA obtained from GroD1 revealed a point mutation, Gly-189 --> Glu, in glucose-6-phosphate isomerase (GPI), a glycolytic enzyme involved in an inherited disorder that results in anemia and neuromuscular symptoms in humans.
|
19903819 |
2010 |
|
Anemia, Hemolytic
|
0.010 |
Biomarker
|
disease |
BEFREE |
Of the several well-established glycolytic enzyme deficiencies, triosephosphate isomerase (TPI) deficiency is the only one in which haemolytic anaemia is coupled with progressive, severe neurological disorder.
|
12023819 |
2002 |
|
Anemia, Hemolytic, Congenital
|
0.010 |
Biomarker
|
disease |
BEFREE |
Novel therapies in development have brought a new focus on pyruvate kinase deficiency (PKD), the most common congenital haemolytic anaemia due to a glycolytic enzyme deficiency.
|
30681718 |
2019 |
|
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
|
0.010 |
Biomarker
|
disease |
BEFREE |
In this study, we investigated the role of the glycolytic enzyme phosphoglycerate mutase 1 (PGAM1) in PDAC.
|
29386088 |
2018 |
|
Arthritis
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
In the K/BxN T-cell receptor transgenic mouse model arthritis is caused by a systemic autoimmune response to the ubiquitously expressed glycolytic enzyme glucose-6-phosphate isomerase (G6PI).
|
15642150 |
2005 |
|
Ataxia
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Prevalence and architecture of de novo mutations in developmental disorders.
|
28135719 |
2017 |
|
Atrophic macular change
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Atrophoderma maculatum
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Attention deficit hyperactivity disorder
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Speculative hypotheses [Swanson and Castellanos, NIH Consensus Development Conference: Diagnosis and Treatment of Attention Deficit Hyperactivity Disorder, November 1998. p. 37-42] have suggested that specific alleles of these dopamine genes may alter dopamine transmission in the neural networks implicated in ADHD/HKD (e.g. that the 10-repeat allele of the DAT1 gene may be associated with hyperactive re-uptake of dopamine or that the 7-repeat allele of the DRD4 gene may be associated with a subsensitive postsynaptic receptor).
|
10654656 |
2000 |
|
Autoimmune Chronic Hepatitis
|
0.010 |
Biomarker
|
disease |
BEFREE |
Our comprehensive evaluation of various classical and novel autoantibody biomarkers including Ro52/TRIM21, anti-p53, anti-KLHL-12 and anti-HK-1 were not significantly associated with PBC-AIH OS.
|
29554146 |
2018 |
|
Autoimmune Diseases
|
0.010 |
Biomarker
|
group |
BEFREE |
Autoimmunity against a glycolytic enzyme as a possible cause for persistent symptoms in Lyme disease.
|
29317049 |
2018 |
|
Autoimmune hepatitis
|
0.010 |
Biomarker
|
disease |
BEFREE |
Our comprehensive evaluation of various classical and novel autoantibody biomarkers including Ro52/TRIM21, anti-p53, anti-KLHL-12 and anti-HK-1 were not significantly associated with PBC-AIH OS.
|
29554146 |
2018 |
|
Autosomal dominant retinitis pigmentosa
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Homozygous and heterozygous variants in HK1 have been shown to cause autosomal recessive non-spherocytic hemolytic anemia, autosomal recessive Russe type hereditary motor and sensory neuropathy, and autosomal dominant retinitis pigmentosa (adRP).
|
30778173 |
2019 |