×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Adult hypophosphatasia (disorder)
0.950
GermlineCausalMutation
ORPHANET
Hypophosphatasia.
17916236
2007
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Adult hypophosphatasia (disorder)
0.950
GermlineCausalMutation
ORPHANET
Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene.
10737975
2000
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Adult hypophosphatasia (disorder)
0.950
Biomarker
GENOMICS_ENGLAND
Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study.
30979546
2019
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Adult hypophosphatasia (disorder)
0.950
Biomarker
CTD_human
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Adult hypophosphatasia (disorder)
0.950
Biomarker
GENOMICS_ENGLAND
Adult hypophosphatasia treated with teriparatide.
17213282
2007
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Adult hypophosphatasia (disorder)
0.950
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Adult hypophosphatasia (disorder)
0.950
GeneticVariation
UNIPROT
Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia.
11760847
2001
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Adult hypophosphatasia (disorder)
0.950
GeneticVariation
UNIPROT
Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene.
12815606
2003
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Adult hypophosphatasia (disorder)
0.950
GeneticVariation
UNIPROT
A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia.
3174660
1988
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Adult hypophosphatasia (disorder)
0.950
GeneticVariation
UNIPROT
Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene.
10834525
2000
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Adult hypophosphatasia (disorder)
0.950
GeneticVariation
UNIPROT
Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.
9781036
1998
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Adult hypophosphatasia (disorder)
0.950
GeneticVariation
UNIPROT
A molecular approach to dominance in hypophosphatasia.
11479741
2001
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Adult hypophosphatasia (disorder)
0.950
GeneticVariation
UNIPROT
Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia.
11438998
2001
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Adult hypophosphatasia (disorder)
0.950
GeneticVariation
UNIPROT
Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions.
11999978
2002
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Adult hypophosphatasia (disorder)
0.950
GeneticVariation
UNIPROT
Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia.
8954059
1996
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Adult hypophosphatasia (disorder)
0.950
GeneticVariation
UNIPROT
A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia.
11834095
2001
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Adult hypophosphatasia (disorder)
0.950
GeneticVariation
UNIPROT
Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles.
19500388
2009
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Adult hypophosphatasia (disorder)
0.950
GeneticVariation
UNIPROT
A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia.
9747027
1998
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Adult hypophosphatasia (disorder)
0.950
GeneticVariation
UNIPROT
A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites.
8406453
1993
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Adult hypophosphatasia (disorder)
0.950
GeneticVariation
UNIPROT
Correlations of genotype and phenotype in hypophosphatasia.
10332035
1999
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Adult hypophosphatasia (disorder)
0.950
GeneticVariation
UNIPROT
Perinatal hypophosphatasia: radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.
11745997
2001
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Adult hypophosphatasia (disorder)
0.950
GeneticVariation
UNIPROT
Hypophosphatasia: identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients.
9452105
1998
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Adult hypophosphatasia (disorder)
0.950
GeneticVariation
UNIPROT
Asp361Val Mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme.
10690885
2000
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Adult hypophosphatasia (disorder)
0.950
GeneticVariation
UNIPROT
Disulfide bonds are critical for tissue-nonspecific alkaline phosphatase function revealed by analysis of mutant proteins bearing a C(201)-Y or C(489)-S substitution associated with severe hypophosphatasia.
22266140
2012
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
Adult hypophosphatasia (disorder)
0.950
GeneticVariation
UNIPROT
Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.
1409720
1992