Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 249
Gene Symbol: ALPL
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 GeneticVariation CLINVAR Hypophosphatasia. 28939177

2018
Entrez Id: 249
Gene Symbol: ALPL
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 CausalMutation CLINVAR Genetic analysis of adults heterozygous for ALPL mutations. 29236161

2018
Entrez Id: 249
Gene Symbol: ALPL
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 CausalMutation CLINVAR Mutational and biochemical findings in adults with persistent hypophosphatasemia. 28401263

2017
Entrez Id: 249
Gene Symbol: ALPL
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 CausalMutation CLINVAR Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia. 28127875

2017
Entrez Id: 249
Gene Symbol: ALPL
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 CausalMutation CLINVAR Efficacy of anti-sclerostin monoclonal antibody BPS804 in adult patients with hypophosphatasia. 28436937

2017
Entrez Id: 249
Gene Symbol: ALPL
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 CausalMutation CLINVAR [Infantile hypophosphatasia caused by a novel compound heterozygous mutation: a case report and pedigree analysis]. 28506345

2017
Entrez Id: 249
Gene Symbol: ALPL
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 GeneticVariation CLINVAR Clinical and Genetic Findings of Turkish Hypophosphatasia Cases. 28663156

2017
Entrez Id: 249
Gene Symbol: ALPL
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 GeneticVariation CLINVAR Mutational and biochemical findings in adults with persistent hypophosphatasemia. 28401263

2017
Entrez Id: 249
Gene Symbol: ALPL
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 GeneticVariation CLINVAR Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults. 26783040

2016
Entrez Id: 249
Gene Symbol: ALPL
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 GeneticVariation CLINVAR Lethal hypophosphatasia successfully treated with enzyme replacement from day 1 after birth. 26459154

2016
Entrez Id: 249
Gene Symbol: ALPL
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 GeneticVariation CLINVAR Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach. 27179278

2016
Entrez Id: 249
Gene Symbol: ALPL
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 GeneticVariation CLINVAR First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review. 27312557

2016
Entrez Id: 249
Gene Symbol: ALPL
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 GeneticVariation CLINVAR Reversible Deterioration in Hypophosphatasia Caused by Renal Failure With Bisphosphonate Treatment. 25736332

2015
Entrez Id: 249
Gene Symbol: ALPL
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 CausalMutation CLINVAR Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients. 25731960

2015
Entrez Id: 249
Gene Symbol: ALPL
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 GeneticVariation CLINVAR Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing. 26432670

2015
Entrez Id: 249
Gene Symbol: ALPL
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 GeneticVariation CLINVAR Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients. 25731960

2015
Entrez Id: 249
Gene Symbol: ALPL
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 GeneticVariation CLINVAR Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures. 24100244

2014
Entrez Id: 249
Gene Symbol: ALPL
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 GeneticVariation CLINVAR Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia. 24569605

2014
Entrez Id: 249
Gene Symbol: ALPL
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 GeneticVariation CLINVAR Benign prenatal hypophosphatasia: a treatable disease not to be missed. 24145968

2014
Entrez Id: 249
Gene Symbol: ALPL
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 GeneticVariation CLINVAR Clinical and genetic aspects of hypophosphatasia in Japanese patients. 24276437

2014
Entrez Id: 249
Gene Symbol: ALPL
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 CausalMutation CLINVAR Clinical and genetic aspects of hypophosphatasia in Japanese patients. 24276437

2014
Entrez Id: 249
Gene Symbol: ALPL
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 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
Entrez Id: 249
Gene Symbol: ALPL
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 CausalMutation CLINVAR An asparagine at position 417 of tissue-nonspecific alkaline phosphatase is essential for its structure and function as revealed by analysis of the N417S mutation associated with severe hypophosphatasia. 23688511

2013
Entrez Id: 249
Gene Symbol: ALPL
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 GeneticVariation CLINVAR Outcome of perinatal hypophosphatasia in manitoba mennonites: a retrospective cohort analysis. 23580367

2013
Entrez Id: 249
Gene Symbol: ALPL
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 GeneticVariation CLINVAR Functional evaluation of mutations in the tissue-nonspecific alkaline phosphatase gene. 23509830

2012