Red Blood Cell Count measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
Muscle hypotonia
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Seizures
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Brachycephaly
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Methylmalonic acidemia
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Short stature
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
MENTAL RETARDATION, X-LINKED 3
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Gross motor development delay
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Poor school performance
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Methylmalonic aciduria
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Pediatric failure to thrive
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Microcephaly (physical finding)
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Vitamin B 12 Deficiency
|
0.010 |
Biomarker
|
disease |
BEFREE |
Putative binding sites for HCFC1 and its binding partner THAP11 were identified near genes of the glycine cleavage enzyme, providing a potential mechanistic link between HCFC1 mutations and increased glycine.
|
28363510 |
2017 |
Neurodegenerative Disorders
|
0.010 |
GeneticVariation
|
group |
BEFREE |
We have investigated the CAG numbers at the THAP11 locus in normal individuals and neurodegenerative disease patients of Chinese Han population and a 38Q expansion (THAP11(38Q)) was found in patients.
|
24677642 |
2014 |
Malignant tumor of colon
|
0.010 |
Biomarker
|
disease |
BEFREE |
Collectively, these data provide the first characterization of THAP11-dependent gene expression in human colon cancer cells and suggest that the THAP11-HCF-1 complex may be an important transcriptional and cell growth regulator in human colon cancer.
|
22371484 |
2012 |
Myeloid Leukemia, Chronic
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
In colony forming cells derived from CML-aldehyde dehydrogenase (ALDH)(hi) /CD34(+) cells, treatment with Abl kinase inhibitors and siRNA depletion of Bcr-Abl induced THAP11 expression and reduced c-Myc expression, resulting in inhibited colony formation.
|
21400515 |
2012 |
Liver neoplasms
|
0.010 |
Biomarker
|
group |
BEFREE |
Our results suggest a novel role of THAP11 in CD44 alternative splicing and hepatoma invasion.
|
22673507 |
2012 |
Neoplasm Metastasis
|
0.010 |
AlteredExpression
|
phenotype |
BEFREE |
Immunohistochemical analysis of human colon cancers revealed increased THAP11 expression in both primary tumors and metastases.
|
22371484 |
2012 |
Neoplasms
|
0.010 |
AlteredExpression
|
group |
BEFREE |
Immunohistochemical analysis of human colon cancers revealed increased THAP11 expression in both primary tumors and metastases.
|
22371484 |
2012 |
Colon Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Collectively, these data provide the first characterization of THAP11-dependent gene expression in human colon cancer cells and suggest that the THAP11-HCF-1 complex may be an important transcriptional and cell growth regulator in human colon cancer.
|
22371484 |
2012 |
Tumor Cell Invasion
|
0.010 |
AlteredExpression
|
phenotype |
BEFREE |
In HepG2 cells, THAP11 overexpression inhibited CD44 v6 expression and cell invasion.
|
22673507 |
2012 |
Liver carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Our results suggest a novel role of THAP11 in CD44 alternative splicing and hepatoma invasion.
|
22673507 |
2012 |
Secondary Neoplasm
|
0.010 |
AlteredExpression
|
group |
BEFREE |
Immunohistochemical analysis of human colon cancers revealed increased THAP11 expression in both primary tumors and metastases.
|
22371484 |
2012 |