Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 249
Gene Symbol: ALPL
ALPL
0.330 GeneticVariation group BEFREE In humans, recessive and dominant ALPL mutations cause hypophosphatasia (HPP), a metabolic bone disease with highly heterogeneous clinical manifestations, ranging from lethal perinatal hypomineralization to a relatively mild dental disease. 30700765 2019
Entrez Id: 249
Gene Symbol: ALPL
ALPL
0.330 GeneticVariation group BEFREE Hypophosphatasia (HPP) is a rare inherited metabolic bone disease due to a deficiency of the tissue nonspecific alkaline phosphatase isoenzyme (TNSALP) encoded by the ALPL gene. 29236161 2018
Entrez Id: 249
Gene Symbol: ALPL
ALPL
0.330 Biomarker group CTD_human Skeletal Mineralization Deficits and Impaired Biogenesis and Function of Chondrocyte-Derived Matrix Vesicles in Phospho1(-/-) and Phospho1/Pi t1 Double-Knockout Mice. 26773408 2016
Entrez Id: 249
Gene Symbol: ALPL
ALPL
0.330 AlteredExpression group BEFREE Hypomorphic mutations in the gene encoding the tissue-nonspecific alkaline phosphatase (TNAP) enzyme, ALPL in human or Akp2 in mice, cause hypophosphatasia (HPP), an inherited metabolic bone disease also characterized by spontaneous seizures. 27466191 2016