MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Acidosis, Lactic
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Hepatomegaly
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Hypoglycemia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Organic aciduria
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Global developmental delay
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Increased serum lactate
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Increased serum pyruvate
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Generalized hypotonia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Variable expressivity
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Drug abuse
|
0.300 |
Biomarker
|
group |
CTD_human |
Genome wide association for addiction: replicated results and comparisons of two analytic approaches.
|
20098672 |
2010 |
Drug habituation
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Genome wide association for addiction: replicated results and comparisons of two analytic approaches.
|
20098672 |
2010 |
Drug Use Disorders
|
0.300 |
Biomarker
|
group |
CTD_human |
Genome wide association for addiction: replicated results and comparisons of two analytic approaches.
|
20098672 |
2010 |
Organic Mental Disorders, Substance-Induced
|
0.300 |
Biomarker
|
disease |
CTD_human |
Genome wide association for addiction: replicated results and comparisons of two analytic approaches.
|
20098672 |
2010 |
Substance Dependence
|
0.300 |
Biomarker
|
disease |
CTD_human |
Genome wide association for addiction: replicated results and comparisons of two analytic approaches.
|
20098672 |
2010 |
Substance Use Disorders
|
0.300 |
Biomarker
|
group |
CTD_human |
Genome wide association for addiction: replicated results and comparisons of two analytic approaches.
|
20098672 |
2010 |
Substance-Related Disorders
|
0.300 |
Biomarker
|
group |
CTD_human |
Genome wide association for addiction: replicated results and comparisons of two analytic approaches.
|
20098672 |
2010 |
Substance abuse problem
|
0.300 |
Biomarker
|
disease |
CTD_human |
Genome wide association for addiction: replicated results and comparisons of two analytic approaches.
|
20098672 |
2010 |
Drug Dependence
|
0.300 |
Biomarker
|
group |
CTD_human |
Genome wide association for addiction: replicated results and comparisons of two analytic approaches.
|
20098672 |
2010 |
Prescription Drug Abuse
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Genome wide association for addiction: replicated results and comparisons of two analytic approaches.
|
20098672 |
2010 |
Malignant neoplasm of breast
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
In addition to known markers such as ERBB2 and E-cadherin, novel markers, including BRP44L, MTHFD2 and TIMM17A, were found to be overexpressed in 21T breast cancer cells and verified in additional breast cell lines. mRNA expression analysis as well as immunohistochemistry analysis in breast cancer tissues indicated that expression level of TIMM17A was directly correlated with tumor progression, and survival analysis suggested that TIMM17A was a powerful prognosis factor in breast cancer.
|
20198662 |
2010 |
Breast Carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
In addition to known markers such as ERBB2 and E-cadherin, novel markers, including BRP44L, MTHFD2 and TIMM17A, were found to be overexpressed in 21T breast cancer cells and verified in additional breast cell lines. mRNA expression analysis as well as immunohistochemistry analysis in breast cancer tissues indicated that expression level of TIMM17A was directly correlated with tumor progression, and survival analysis suggested that TIMM17A was a powerful prognosis factor in breast cancer.
|
20198662 |
2010 |
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
A mitochondrial pyruvate carrier required for pyruvate uptake in yeast, Drosophila, and humans.
|
22628558 |
2012 |