HHAT, hedgehog acyltransferase, 55733

N. diseases: 75; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
0.050 Biomarker disease BEFREE However, in nonserotonergic cells that express 5-HT1A receptors (septal SN48, neuroblastoma SKN-SH, and neuroblastoma/glioma NG108-15 cells), Deaf-1 enhanced 5-HT1A promoter activity at the C(-1019)-allele but not the G-allele, whereas Hes5 repressed in all cell types. 16467535 2006
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
0.050 Biomarker disease BEFREE The 5'-flanking regions of these exons were isolated and, using a luciferase reporter gene assay, shown to possess active promoter elements in SKN-MC neuroblastoma and U178-MG astroglioma cells. 12783878 2003
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
0.050 AlteredExpression disease BEFREE Characterization of GTP cyclohydrolase I gene expression in the human neuroblastoma SKN-BE(2)M17: enhanced transcription in response to cAMP is conferred by the proximal promoter. 11701761 2001
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
0.050 GeneticVariation disease BEFREE The neuroblastoma SKN.SH, processed staggered-ended plasmid by insertions of a variety of sizes, but processed circular plasmid largely error-free. 10434913 1998
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
0.050 GeneticVariation disease BEFREE To define the level and distribution of this activity in brain cells, fractionated extracts were prepared from the nuclei and cytoplasm of human glioblastoma (D-54, U-251) and neuroblastoma (IMR-32, SKN-MC) cells and analyzed for their ability to modify synthetic dsRNAs specific for the measles virus (MV) matrix (M) gene. 9222345 1995