Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 249
Gene Symbol: ALPL
ALPL
0.450 GeneticVariation phenotype BEFREE Herein, we report the case of an infantile hypophosphatasia patient who presented with pyridoxine-responsive seizures and a novel homozygous mutation in the ALPL gene was detected. 27086862 2016
Entrez Id: 249
Gene Symbol: ALPL
ALPL
0.450 AlteredExpression phenotype 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
Entrez Id: 249
Gene Symbol: ALPL
ALPL
0.450 Biomarker phenotype CTD_human 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
Entrez Id: 249
Gene Symbol: ALPL
ALPL
0.450 Therapeutic phenotype CTD_human 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
Entrez Id: 249
Gene Symbol: ALPL
ALPL
0.450 GeneticVariation phenotype BEFREE An infant carrying a heterozygous c.43_46delACTA and a heterozygous c.668 G>A mutation in the ALPL gene with hypophosphatasia in the absence of bone deformities presented with therapy-resistant seizures. 24100244 2014
Entrez Id: 249
Gene Symbol: ALPL
ALPL
0.450 Biomarker phenotype BEFREE TNALP-null mice (Akp2(-/-)) phenocopy human infantile hypophosphatasia; they develop rickets at 1 week of age, and die before being weaned, having severe skeletal and dental hypomineralization and episodes of apnea and vitamin B(6)-responsive seizures. 21212313 2011
Entrez Id: 249
Gene Symbol: ALPL
ALPL
0.450 Therapeutic phenotype CTD_human Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6. 7550313 1995
Entrez Id: 249
Gene Symbol: ALPL
ALPL
0.450 Biomarker phenotype CTD_human Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6. 7550313 1995
Entrez Id: 249
Gene Symbol: ALPL
ALPL
0.450 Biomarker phenotype BEFREE Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6. 7550313 1995
Entrez Id: 249
Gene Symbol: ALPL
ALPL
0.450 Biomarker phenotype HPO