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 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 GeneticVariation CLINVAR Hypophosphatasia. 28939177

2018
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 CausalMutation CLINVAR Clinical characteristics of perinatal lethal hypophosphatasia: a report of 6 cases. 23926372

2010
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