THAP11, THAP domain containing 11, 57215

N. diseases: 23; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014772
Disease: Red Blood Cell Count measurement
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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 GeneticVariation phenotype CLINVAR
CUI: C0036572
Disease: Seizures
Seizures
0.100 GeneticVariation phenotype CLINVAR
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
0.100 GeneticVariation disease CLINVAR
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia
0.100 GeneticVariation phenotype CLINVAR
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation phenotype CLINVAR
CUI: C0796208
Disease: MENTAL RETARDATION, X-LINKED 3
MENTAL RETARDATION, X-LINKED 3
0.100 GeneticVariation disease CLINVAR
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
0.100 GeneticVariation disease CLINVAR
CUI: C1843367
Disease: Poor school performance
Poor school performance
0.100 GeneticVariation phenotype CLINVAR
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria
0.100 GeneticVariation disease CLINVAR
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 GeneticVariation disease CLINVAR
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.100 GeneticVariation phenotype CLINVAR
CUI: C0042847
Disease: Vitamin B 12 Deficiency
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
CUI: C0524851
Disease: Neurodegenerative Disorders
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
CUI: C0007102
Disease: Malignant tumor of colon
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
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
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
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
0.010 Biomarker group BEFREE Our results suggest a novel role of THAP11 in CD44 alternative splicing and hepatoma invasion. 22673507 2012
CUI: C0027627
Disease: Neoplasm Metastasis
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
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 AlteredExpression group BEFREE Immunohistochemical analysis of human colon cancers revealed increased THAP11 expression in both primary tumors and metastases. 22371484 2012
CUI: C0699790
Disease: Colon Carcinoma
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
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 AlteredExpression phenotype BEFREE In HepG2 cells, THAP11 overexpression inhibited CD44 v6 expression and cell invasion. 22673507 2012
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 Biomarker disease BEFREE Our results suggest a novel role of THAP11 in CD44 alternative splicing and hepatoma invasion. 22673507 2012
CUI: C2939419
Disease: Secondary Neoplasm
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