Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918008
rs121918008
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		T 0.700 CausalMutation CLINVAR Enzyme-replacement therapy in life-threatening hypophosphatasia. 22397652

2012
dbSNP: rs121918008
rs121918008
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		T 0.700 CausalMutation CLINVAR Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review). 21713987

2011
dbSNP: rs121918008
rs121918008
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		T 0.700 CausalMutation CLINVAR A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene. 17922851

2008
dbSNP: rs121918008
rs121918008
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		T 0.700 CausalMutation CLINVAR Kinetic characterization of hypophosphatasia mutations with physiological substrates. 12162492

2002
dbSNP: rs121918008
rs121918008
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		T 0.700 CausalMutation CLINVAR A molecular approach to dominance in hypophosphatasia. 11479741

2001
dbSNP: rs121918008
rs121918008
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		T 0.700 CausalMutation CLINVAR Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. 1409720

1992