Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906525
rs387906525
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		C 0.700 CausalMutation CLINVAR Clinical characteristics of perinatal lethal hypophosphatasia: a report of 6 cases. 23926372

2010
dbSNP: rs387906525
rs387906525
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		C 0.700 CausalMutation CLINVAR Functional assay of the mutant tissue-nonspecific alkaline phosphatase gene using U2OS osteoblast-like cells. 18455459

2008
dbSNP: rs387906525
rs387906525
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		C 0.700 CausalMutation CLINVAR Novel aggregate formation of a frame-shift mutant protein of tissue-nonspecific alkaline phosphatase is ascribed to three cysteine residues in the C-terminal extension. Retarded secretion and proteasomal degradation. 15794757

2005
dbSNP: rs387906525
rs387906525
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		C 0.700 CausalMutation CLINVAR Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia. 15660230

2005
dbSNP: rs387906525
rs387906525
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		C 0.700 CausalMutation CLINVAR Hypophosphatasia: identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients. 9452105

1998