Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918011
rs121918011
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		A 0.700 CausalMutation CLINVAR Genetic analysis of adults heterozygous for ALPL mutations. 29236161

2018
dbSNP: rs121918011
rs121918011
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		A 0.700 CausalMutation CLINVAR [Infantile hypophosphatasia caused by a novel compound heterozygous mutation: a case report and pedigree analysis]. 28506345

2017
dbSNP: rs121918011
rs121918011
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		A 0.700 CausalMutation CLINVAR Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia. 28127875

2017
dbSNP: rs121918011
rs121918011
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		A 0.700 CausalMutation CLINVAR Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients. 25731960

2015
dbSNP: rs121918011
rs121918011
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		A 0.700 CausalMutation CLINVAR Clinical and genetic aspects of hypophosphatasia in Japanese patients. 24276437

2014
dbSNP: rs121918011
rs121918011
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		A 0.700 CausalMutation CLINVAR Enzyme-replacement therapy in life-threatening hypophosphatasia. 22397652

2012
dbSNP: rs121918011
rs121918011
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		A 0.700 CausalMutation CLINVAR Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations. 15694177

2005
dbSNP: rs121918011
rs121918011
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		A 0.700 CausalMutation CLINVAR Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia. 11855933

2002
dbSNP: rs121918011
rs121918011
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		A 0.700 CausalMutation CLINVAR Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia. 11438998

2001
dbSNP: rs121918011
rs121918011
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		A 0.700 CausalMutation CLINVAR Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Mutations in brief no. 217. Online. 10094560

1999
dbSNP: rs121918011
rs121918011
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		A 0.700 CausalMutation CLINVAR Correlations of genotype and phenotype in hypophosphatasia. 10332035

1999