rs121918014, ALPL

N. diseases: 5
Disease: Hypophosphatasia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypophosphatasia
CUI: C0020630
Disease: Hypophosphatasia
0.020 GeneticVariation BEFREE An asparagine at position 417 of tissue-nonspecific alkaline phosphatase is essential for its structure and function as revealed by analysis of the N417S mutation associated with severe hypophosphatasia. 23688511 2013
Hypophosphatasia
CUI: C0020630
Disease: Hypophosphatasia
0.020 GeneticVariation BEFREE Perinatal hypophosphatasia: radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. 11745997 2001