Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs766076920
rs766076920
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		T 0.700 GeneticVariation CLINVAR Compound heterozygosity of two functional null mutations in the ALPL gene associated with deleterious neurological outcome in an infant with hypophosphatasia. 23454488

2013
dbSNP: rs766076920
rs766076920
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		T 0.700 GeneticVariation CLINVAR Whole-body MRI in the childhood form of hypophosphatasia. 20383509

2011
dbSNP: rs766076920
rs766076920
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		T 0.700 GeneticVariation CLINVAR Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations. 15694177

2005
dbSNP: rs766076920
rs766076920
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		T 0.700 GeneticVariation CLINVAR Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia. 11855933

2002
dbSNP: rs766076920
rs766076920
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		T 0.700 GeneticVariation CLINVAR Kinetic characterization of hypophosphatasia mutations with physiological substrates. 12162492

2002
dbSNP: rs766076920
rs766076920
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		T 0.700 GeneticVariation CLINVAR Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia. 11760847

2001
dbSNP: rs766076920
rs766076920
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		T 0.700 GeneticVariation CLINVAR A molecular approach to dominance in hypophosphatasia. 11479741

2001
dbSNP: rs766076920
rs766076920
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		T 0.700 GeneticVariation CLINVAR Correlations of genotype and phenotype in hypophosphatasia. 10332035

1999
dbSNP: rs766076920
rs766076920
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		T 0.700 GeneticVariation CLINVAR Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia. 9781036

1998