Gene: ALPL ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918010
rs121918010
ALPL
C 0.730 CausalMutation CLINVAR Clinical and genetic aspects of hypophosphatasia in Japanese patients. 24276437

2014
dbSNP: rs121918010
rs121918010
ALPL
C 0.730 CausalMutation CLINVAR Molecular evolution of the tissue-nonspecific alkaline phosphatase allows prediction and validation of missense mutations responsible for hypophosphatasia. 25023282

2014
dbSNP: rs121918010
rs121918010
ALPL
C 0.730 CausalMutation CLINVAR Functional assay of the mutant tissue-nonspecific alkaline phosphatase gene using U2OS osteoblast-like cells. 18455459

2008
dbSNP: rs121918010
rs121918010
ALPL
0.730 GeneticVariation BEFREE In Japanese patients, the common mutations F310L and T1559del are associated with the relatively mild and lethal forms of hypophosphatasia, respectively. 15660230

2005
dbSNP: rs121918010
rs121918010
ALPL
C 0.730 CausalMutation CLINVAR The mutant (F310L and V365I) tissue-nonspecific alkaline phosphatase gene from hypophosphatasia. 15137467

2004
dbSNP: rs121918010
rs121918010
ALPL
0.730 GeneticVariation BEFREE The F310L mutation was also detected in another neonatal patient with relatively mild (nonlethal) hypophosphatasia (reported in J Clin Endocrinol Metab, 81:4458-4461, 1996), suggesting that residual ALP activity of the F310L mutant contributes to the less severe phenotype. 9814472

1998
dbSNP: rs121918010
rs121918010
ALPL
0.730 GeneticVariation BEFREE Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia. 8954059

1996
dbSNP: rs121918010
rs121918010
ALPL
C 0.730 CausalMutation CLINVAR Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia. 8954059

1996
dbSNP: rs121918008
rs121918008
ALPL
T 0.720 CausalMutation CLINVAR Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients. 25731960

2015
dbSNP: rs121918008
rs121918008
ALPL
T 0.720 CausalMutation CLINVAR Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles. 19500388

2009
dbSNP: rs121918008
rs121918008
ALPL
0.720 GeneticVariation BEFREE The mutation c.1133A>T observed in the prenatal benign form of HP and common in USA was not found in this series. 18925618

2008
dbSNP: rs121918008
rs121918008
ALPL
0.720 GeneticVariation BEFREE The mutation that causes D361V is the first one proven to be associated with the dominant form of hypophosphatasia. 10690885

2000
dbSNP: rs121918008
rs121918008
ALPL
T 0.720 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
dbSNP: rs121918013
rs121918013
ALPL
A 0.710 CausalMutation CLINVAR Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients. 25731960

2015
dbSNP: rs121918007
rs121918007
ALPL
A 0.710 CausalMutation CLINVAR Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia. 24569605

2014
dbSNP: rs121918013
rs121918013
ALPL
0.710 GeneticVariation BEFREE Molecular characterization of tissue-nonspecific alkaline phosphatase with an Ala to Thr substitution at position 116 associated with dominantly inherited hypophosphatasia. 21168482

2011
dbSNP: rs121918007
rs121918007
ALPL
A 0.710 CausalMutation CLINVAR Parathyroid hormone treatment improves pain and fracture healing in adult hypophosphatasia. 20739387

2010
dbSNP: rs121918007
rs121918007
ALPL
A 0.710 CausalMutation CLINVAR Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles. 19500388

2009
dbSNP: rs121918013
rs121918013
ALPL
A 0.710 CausalMutation CLINVAR Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles. 19500388

2009
dbSNP: rs121918007
rs121918007
ALPL
A 0.710 CausalMutation CLINVAR Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia. 17719863

2007
dbSNP: rs121918007
rs121918007
ALPL
A 0.710 CausalMutation CLINVAR Our results show that all the E174K mutations are carried by a common ancestral haplotype, also found at low frequency in normal and hypophosphatasia chromosomes. 12357339

2002
dbSNP: rs121918007
rs121918007
ALPL
0.710 GeneticVariation BEFREE Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients. 12357339

2002
dbSNP: rs121918009
rs121918009
ALPL
0.710 GeneticVariation BEFREE A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites. 8406453

1993
dbSNP: rs121918007
rs121918007
ALPL
A 0.710 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
dbSNP: rs121918009
rs121918009
ALPL
A 0.710 CausalMutation CLINVAR