Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia
0.100 Biomarker disease BEFREE ALP = alkaline phosphatase; HPP = hypophosphatasia; PEA = phosphorethanolamine; PLP = pyridoxal-5-phosphate; PPi = inorganic pyrophosphate; TNSALP/TNAP = tissue-nonspecific alkaline phosphatase. 30289311 2018
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia
0.100 Biomarker disease 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
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia
0.100 GeneticVariation disease 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
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia
0.100 AlteredExpression disease BEFREE Six missense mutations were identified in three Chinese hypophosphatasia pedigrees with subnormal serum ALP activity. 24022022 2013
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia
0.100 AlteredExpression disease 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
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia
0.100 Biomarker disease BEFREE Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non-specific ALP gene in prenatal diagnosis of severe hypophosphatasia. 10451522 1999
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia
0.100 AlteredExpression disease 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
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia
0.100 AlteredExpression disease 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
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia
0.100 Biomarker disease 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
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia
0.100 Biomarker disease 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