|
Dwarfism
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.
|
31034465 |
2019 |
|
Schizophrenia
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Likewise, PIK3C2A identified in the gene-based analysis is located in a combined bipolar and schizophrenia GWAS locus.
|
28195573 |
2017 |
|
Myopathy
|
0.030 |
Biomarker
|
group |
BEFREE |
The subjects carrying the abnormal trait show evidence of a myopathy which is subclinical in most instances and revealed only by estimation of serum CPK or biopsy.
|
4708457 |
1973 |
|
Myopathy
|
0.030 |
Biomarker
|
group |
BEFREE |
It is recommended that patients with known myopathy or unexplained elevations of serum CPK not receive the combination of halothane and succinylcholine.
|
987723 |
1976 |
|
Myopathy
|
0.030 |
AlteredExpression
|
group |
BEFREE |
However, in myopathy as "rimmed vacuole distal myopathy" serum CPK remains in normal level even though weakness is severe.
|
2082493 |
1990 |
|
Muscular Dystrophy, Duchenne
|
0.020 |
Biomarker
|
disease |
BEFREE |
It is noteworthy that in such a way the detection rate of definite DMD carriers was higher than with the CPK test.
|
474067 |
1979 |
|
Muscular Dystrophy, Duchenne
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
We have carried out serum assays for myoglobin in parallel with the determination of serum CPK activity to assess its usefulness in raising the detectability rate of Duchenne muscular dystrophy carriers.
|
7416442 |
1980 |
|
Paresis
|
0.020 |
AlteredExpression
|
phenotype |
BEFREE |
Two further members had raised CPK levels without muscle weakness.
|
497805 |
1979 |
|
Paresis
|
0.020 |
Biomarker
|
phenotype |
BEFREE |
However she still has muscle weakness and serum concentrations of CPK and aldolase are still in higher levels than normal range.
|
2614020 |
1989 |
|
Muscle Weakness
|
0.020 |
Biomarker
|
phenotype |
BEFREE |
However she still has muscle weakness and serum concentrations of CPK and aldolase are still in higher levels than normal range.
|
2614020 |
1989 |
|
Muscle Weakness
|
0.020 |
AlteredExpression
|
phenotype |
BEFREE |
Two further members had raised CPK levels without muscle weakness.
|
497805 |
1979 |
|
Abetalipoproteinemia
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Amyotrophic choreo-acanthocytosis is a rare disease of adult onset characterized by dyskinesias, neurogenic muscular atrophy, erythrocytary acanthocytosis with normal serum lipoproteins and elevated levels of serum CPK.
|
3727925 |
1986 |
|
Anemia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The most common treatment related adverse events occurring in >15% of patients included CPK elevation (50%), lipase elevation (44%), hyperphosphatemia (24%), anemia (19%), and peripheral edema (19%).
|
30101387 |
2019 |
|
Back Pain
|
0.010 |
AlteredExpression
|
phenotype |
BEFREE |
However, groups E and T showed minimal surgical invasiveness compared with group M. Groups E and T showed less immediate postoperative back pain (VAS) (group E: 3.13, group M: 4.28, group T: 3.54) (p<0.05), less increase of serum CPK enzyme (group E: 66.38 IU/L, group M: 120 IU/L, and group T: 137.5 IU/L) (p<0.05), and shorter hospital stay (group E: 2.12 days, group M: 4.85 days, and group T: 2.83 days) (p<0.05).
|
31019969 |
2019 |
|
Malignant neoplasm of breast
|
0.010 |
Biomarker
|
disease |
BEFREE |
Reduced abundance of PI3K-C2α in breast cancer models initially impairs tumor growth but later leads to the convergent evolution of fast-growing clones with mitotic checkpoint defects.
|
29017056 |
2017 |
|
Malignant Neoplasms
|
0.010 |
Biomarker
|
group |
BEFREE |
PIK3C2A MREs enhance HCC cell malignancy by absorbing endogenous miR-124 and activating CD151 in HCC cells.
|
27270320 |
2016 |
|
Coronary Arteriosclerosis
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Our results indicated that the level of PIK3C2A gene expression in peripheral blood of AMI patients was significantly lower than one in the non-coronary heart disease subjects.
|
30946353 |
2019 |
|
Coronary heart disease
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Our results indicated that the level of PIK3C2A gene expression in peripheral blood of AMI patients was significantly lower than one in the non-coronary heart disease subjects.
|
30946353 |
2019 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Our results reveal a critical role for PI3K-C2α in β cells and suggest that down-regulation of PI3K-C2α may be a feature of type 2 diabetes.
|
21127054 |
2011 |
|
Leukopenia
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Both the instances blood investigations including CPK levels were normal except for thrombocytopenia and leucopenia.
|
31071486 |
2019 |
|
Lupus Erythematosus, Systemic
|
0.010 |
Biomarker
|
disease |
BEFREE |
Conclusions Validation of our novel proposed classification rule (Lu-vs-M) includes novel contrasting characteristics (calcinosis, CPK elevated and anti-IgM reactivity for U1-70K, U1A and U1C) between SLE and MCTD patients and showed a 33% improvement in distinguishing these disorders when compared to currently used classification criteria sets.
|
27353506 |
2017 |
|
Muscular Dystrophy
|
0.010 |
Biomarker
|
disease |
BEFREE |
Steroid-CPK test. A new diagnostic aid for muscular dystrophy and its carriers?
|
710453 |
1978 |
|
Myoclonus
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
The patient demonstrated generalized prolonged myoclonus severe enough to produce temperatures of 41.4 degrees C and CPK elevations to 7281 U/l.
|
12860512 |
2003 |
|
Neoplasms
|
0.010 |
Biomarker
|
group |
BEFREE |
Reduced abundance of PI3K-C2α in breast cancer models initially impairs tumor growth but later leads to the convergent evolution of fast-growing clones with mitotic checkpoint defects.
|
29017056 |
2017 |
|
Neuroleptic Malignant Syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
A single base substitution, C7278T, was detected in one patient whose serum CPK level was repetitively elevated, but his other major symptoms did not fulfil the clinical criteria for NMS.
|
8981316 |
1996 |