ASPH, aspartate beta-hydroxylase, 444

N. diseases: 69; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 AlteredExpression disease LHGDN Aspartyl-(asparaginyl)-beta-hydroxylase regulates hepatocellular carcinoma invasiveness. 16564107 2006
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 Biomarker disease BEFREE Aspartyl-(asparaginyl)-beta-hydroxylase regulates hepatocellular carcinoma invasiveness. 16564107 2006
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 AlteredExpression disease LHGDN Expression of aspartyl beta-hydroxylase and its clinicopathological significance in hepatocellular carcinoma. 16341145 2006
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE Western blot analysis detected the approximately 86 kDa AAH protein in all five cholangiocarcinoma cell lines, and higher levels of AAH in cell lines derived from moderately or poorly differentiated compared with well-differentiated tumors. 12713872 2003
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE A modest but significant effect on tumor growth was observed in animals treated with an antisense ON directed against both BAH and humbug transcripts. 12130746 2002
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE Aspartyl (asparaginyl) beta-hydroxylase (AAH) is overexpressed in various malignant neoplasms, and high levels of immunoreactivity mainly occur in infiltrating or metastasized tumors. 12118090 2002
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 AlteredExpression disease BEFREE We previously reported overexpression of the HAAH gene in human hepatocellular carcinomas and cholangiocarcinomas (L. Lavaissiere et al., J. Clin.Investig., 98: 1313-1323, 1996). 10728685 2000
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 AlteredExpression disease BEFREE Overexpression of human aspartyl(asparaginyl)beta-hydroxylase in hepatocellular carcinoma and cholangiocarcinoma. 8823296 1996
CUI: C0024636
Disease: Malocclusion
Malocclusion
0.100 Biomarker disease HPO
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge
0.100 Biomarker phenotype HPO
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
0.100 Biomarker phenotype HPO
CUI: C0423319
Disease: Atrophic iris
Atrophic iris
0.100 Biomarker disease HPO
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 Biomarker phenotype HPO
CUI: C0426415
Disease: Large nose
Large nose
0.100 Biomarker phenotype HPO
CUI: C3494422
Disease: Retrognathia
Retrognathia
0.100 Biomarker disease HPO
CUI: C4025579
Disease: Large beaked nose
Large beaked nose
0.100 Biomarker disease HPO
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.060 Biomarker disease BEFREE Aspartate beta-hydroxylase promotes cholangiocarcinoma progression by modulating RB1 phosphorylation. 29733964 2018
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.060 Biomarker disease BEFREE Immunization with ASPH-loaded DCs generated cytotoxicity against cholangiocarcinoma cells in vitro and significantly suppressed intrahepatic tumor growth and metastasis, and was associated with increased CD3+ lymphocyte infiltration into the tumors. 21898484 2012
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.060 AlteredExpression disease BEFREE Detection of human aspartyl (asparaginyl) beta-hydroxylase and homeobox B7 mRNA in brush cytology specimens from patients with bile duct cancer. 16673309 2006
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.060 AlteredExpression disease LHGDN Correspondingly, antisense and not sense or mutated antisense AAH oligodeoxynucleotides significantly inhibited AAH expression and motility in cholangiocarcinoma cells. 12713872 2003
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.060 AlteredExpression disease BEFREE Correspondingly, antisense and not sense or mutated antisense AAH oligodeoxynucleotides significantly inhibited AAH expression and motility in cholangiocarcinoma cells. 12713872 2003
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.060 AlteredExpression disease BEFREE We found that HAAH gene expression was undetectable during bile duct proliferation in both human disease and rat models as compared with cholangiocarcinoma. 10728685 2000
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.060 Biomarker disease BEFREE Overexpression of human aspartyl(asparaginyl)beta-hydroxylase in hepatocellular carcinoma and cholangiocarcinoma. 8823296 1996
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.050 AlteredExpression group BEFREE ASPH is silenced in normal adult breast, upregulated from in situ malignancies to highly expressed in invasive/advanced ductal carcinoma. 31694640 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.050 Biomarker phenotype BEFREE Small molecule inhibitors (SMIs) of ASPH's β-hydroxylase specifically/efficiently abrogated in vitro metastasis, which mimics basement membrane invasion at primary site, intravasation/extravasation (transendothelial migration), and colonization/outgrowth at distant sites. 31694640 2019