Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 470
Gene Symbol: ATHS
ATHS
CUI: C0028259
Disease: Nodule
Nodule
0.100 AlteredExpression BEFREE After 14 days of osteoblastic induction, osteoblast phenotypes were detected by ALP and calcium nodule staining, and the expression of BMP-2 and TGF-β1 was observed by western blotting. 31481070

2019

Entrez Id: 470
Gene Symbol: ATHS
ATHS
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia
0.100 Biomarker BEFREE ALP = alkaline phosphatase; HPP = hypophosphatasia; PEA = phosphorethanolamine; PLP = pyridoxal-5-phosphate; PPi = inorganic pyrophosphate; TNSALP/TNAP = tissue-nonspecific alkaline phosphatase. 30289311

2018

Entrez Id: 470
Gene Symbol: ATHS
ATHS
CUI: C0028259
Disease: Nodule
Nodule
0.100 AlteredExpression BEFREE In addition, up-regulation of Fam50a also increased ALP activity and mineralized nodule formation in a dose-dependent manner. 28574578

2018

Entrez Id: 470
Gene Symbol: ATHS
ATHS
CUI: C0028259
Disease: Nodule
Nodule
0.100 AlteredExpression BEFREE In C-OPLL cells, leptin treatment led to a significant increase in mRNA expressions of ALP and OCN and formation of mineralized nodule. 29970120

2018

Entrez Id: 470
Gene Symbol: ATHS
ATHS
CUI: C0028259
Disease: Nodule
Nodule
0.100 AlteredExpression BEFREE Subsequently, examination of mineralized nodule formation and evaluation of alkaline phosphatase (ALP) activity and ALP gene expression revealed that the most effective concentration of BDNF to elicit a response in hBMSCs was 100 ng/mL. 29490590

2018

Entrez Id: 470
Gene Symbol: ATHS
ATHS
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia
0.100 GeneticVariation BEFREE Hypophosphatasia (HPP) is a rare genetic disorder resulting in variable alterations of bone formation and mineralization that are caused by mutations in the ALPL gene, encoding the tissue-nonspecific alkaline phosphatase (ALP) enzyme. 28436937

2017

Entrez Id: 470
Gene Symbol: ATHS
ATHS
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia
0.100 Biomarker BEFREE Mutations in the ALPL gene encoding tissue-nonspecific alkaline phosphatase (TNSALP) cause hypophosphatasia (HPP), a genetic disorder characterized by deficiency of serum ALP and hypomineralization of bone and teeth. 28000043

2017

Entrez Id: 470
Gene Symbol: ATHS
ATHS
CUI: C0028259
Disease: Nodule
Nodule
0.100 AlteredExpression BEFREE Furthermore, GILZ (dexamethasone-induced) inhibition caused by icariin or moderately silenced by GILZ siRNA abolished the osteogenesis inhibition effect of dexamethasone, as indicated by the changes in the GILZ, ALP, OPG and RANKL expression levels; ALP activity; and calcium nodule. 28363169

2017

Entrez Id: 470
Gene Symbol: ATHS
ATHS
CUI: C0028259
Disease: Nodule
Nodule
0.100 AlteredExpression BEFREE Overexpression of PHF20 enhanced ALP activity and mineralized nodule formation as well as the expression of osteogenic markers including Runx2. 28808306

2017

Entrez Id: 470
Gene Symbol: ATHS
ATHS
CUI: C0028259
Disease: Nodule
Nodule
0.100 AlteredExpression BEFREE ALP activity and mineralized nodule formation test were used to evaluate bone formation. 28963864

2017

Entrez Id: 470
Gene Symbol: ATHS
ATHS
CUI: C0028259
Disease: Nodule
Nodule
0.100 Biomarker BEFREE Among the screened library, ethyl 4-(7-(sec-butyl)-2-(4-methylbenzoyl)benzofuran-5-yl)-2-methyl-5-oxo-1,4,5,6,7,8-hexahydroquinoline-3-carboxylate (compound 21) significantly enhanced the ALP production and mineralized nodule formation, which are primary requisites in the process of in vitro osteogenesis. 29097030

2017

Entrez Id: 470
Gene Symbol: ATHS
ATHS
CUI: C0028259
Disease: Nodule
Nodule
0.100 AlteredExpression BEFREE However, expression levels of Runx2, BSP, ephrinB2 and EphB4, as well as ALP activity and mineral nodule formation, were significantly enhanced in MC3T3-E1 cells treated with low concentrations of TNF-α. 27726217

2017

Entrez Id: 470
Gene Symbol: ATHS
ATHS
CUI: C0028259
Disease: Nodule
Nodule
0.100 AlteredExpression BEFREE Sema4D significantly inhibited ALP activity and mineralized nodule formation of DPSCs. 28027822

2017

Entrez Id: 470
Gene Symbol: ATHS
ATHS
CUI: C0028259
Disease: Nodule
Nodule
0.100 AlteredExpression BEFREE The results indicated that ASA VI promoted the proliferation of OVX rBMSCs and enhanced ALP activity and calcified nodule formation. 27756897

2016

Entrez Id: 470
Gene Symbol: ATHS
ATHS
CUI: C0028259
Disease: Nodule
Nodule
0.100 AlteredExpression BEFREE Transfection with shRNAs markedly increased mineralized nodule formation and the osteogenic-related markers ALP and OCN levels in hPDLCs, whereas the overexpression of S100A4 significantly reduced mineralized nodule formation, and increased the matrix degradation enzymes MMP-2 and MMP-13 levels in hPDLCs. 26499072

2015

Entrez Id: 470
Gene Symbol: ATHS
ATHS
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia
0.100 AlteredExpression BEFREE Six missense mutations were identified in three Chinese hypophosphatasia pedigrees with subnormal serum ALP activity. 24022022

2013

Entrez Id: 470
Gene Symbol: ATHS
ATHS
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia
0.100 AlteredExpression BEFREE Hypophosphatasia is a rare inherited disorder characterized by defective bone mineralization and deficiency of serum and liver/bone/kidney-type alkaline phosphatase (L/B/K ALP) activity. 10679946

2000

Entrez Id: 470
Gene Symbol: ATHS
ATHS
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia
0.100 Biomarker BEFREE Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non-specific ALP gene in prenatal diagnosis of severe hypophosphatasia. 10451522

1999

Entrez Id: 470
Gene Symbol: ATHS
ATHS
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia
0.100 AlteredExpression BEFREE The mean ratio of iBALP or iTNSALP level to total ALP activity was unremarkable for the mild childhood, adult, and odonto forms of hypophosphatasia. 8964842

1996

Entrez Id: 470
Gene Symbol: ATHS
ATHS
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia
0.100 Biomarker BEFREE Introduction of the mutation into an otherwise normal cDNA disrupted the expression of active enzyme, demonstrating that a defect in the L/B/K ALP gene resulted in hypophosphatasia and that the enzyme is, therefore, essential for normal skeletal mineralization. 2605956

1989

Entrez Id: 470
Gene Symbol: ATHS
ATHS
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia
0.100 AlteredExpression BEFREE Our results demonstrate that the deficiency of ALP activity in fibroblasts from 14 patients with severe hypophosphatasia is not due to decreased steady-state levels of the corresponding mRNA. 2705456

1989

Entrez Id: 470
Gene Symbol: ATHS
ATHS
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia
0.100 Biomarker BEFREE Introduction of this mutation into an otherwise normal cDNA by site-directed mutagenesis abolishes the expression of active enzyme, demonstrating that a defect in the L/B/K ALP gene results in hypophosphatasia and that the enzyme is, therefore, essential for normal skeletal mineralization. 3174660

1988

Entrez Id: 470
Gene Symbol: ATHS
ATHS
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.060 AlteredExpression BEFREE The expression levels of osteoporosis-related genes (ALP, OCN, and OPN) were found to be decreased in hBMSCs treated with sh-BMP1. 30638953

2019

Entrez Id: 470
Gene Symbol: ATHS
ATHS
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.060 AlteredExpression BEFREE BMSCs in OP mice transfected with miR-196a mimic or si-GNAS displayed the elevated expression of Smo, ALP, Runx2, and OPN, as well as bone gla protein and tartrate-resistant acid phosphatase, elevated ALP vitality and bone formation ability as well as reduced expression of GNAS and PTCH. 31452264

2019

Entrez Id: 470
Gene Symbol: ATHS
ATHS
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.060 AlteredExpression BEFREE Decreased Runx2 expression and ALP activity were found after treatment of MSCs-derived exosomes extracted from osteoporosis patients. 30338786

2018