Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 249
Gene Symbol: ALPL
ALPL
0.010 GeneticVariation group 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