Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia
1.000 Biomarker disease GENOMICS_ENGLAND Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study. 30979546 2019
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia
1.000 GeneticVariation disease CLINVAR Hypophosphatasia. 28939177 2018
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia
1.000 CausalMutation disease CLINVAR Genetic analysis of adults heterozygous for ALPL mutations. 29236161 2018
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia
1.000 CausalMutation disease CLINVAR Mutational and biochemical findings in adults with persistent hypophosphatasemia. 28401263 2017
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia
1.000 CausalMutation disease CLINVAR Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia. 28127875 2017
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia
1.000 GeneticVariation disease BEFREE A homozygous intronic branch-point deletion in the ALPL gene causes infantile hypophosphatasia. 27777120 2017
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia
1.000 CausalMutation disease CLINVAR Efficacy of anti-sclerostin monoclonal antibody BPS804 in adult patients with hypophosphatasia. 28436937 2017
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia
1.000 CausalMutation disease CLINVAR [Infantile hypophosphatasia caused by a novel compound heterozygous mutation: a case report and pedigree analysis]. 28506345 2017
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia
1.000 GeneticVariation disease CLINVAR Clinical and Genetic Findings of Turkish Hypophosphatasia Cases. 28663156 2017
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia
1.000 GeneticVariation disease CLINVAR Mutational and biochemical findings in adults with persistent hypophosphatasemia. 28401263 2017
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia
1.000 GeneticVariation disease CLINVAR Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults. 26783040 2016
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia
1.000 GeneticVariation disease CLINVAR Lethal hypophosphatasia successfully treated with enzyme replacement from day 1 after birth. 26459154 2016
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia
1.000 GeneticVariation disease CLINVAR Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach. 27179278 2016
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia
1.000 GeneticVariation disease BEFREE Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene. 27086862 2016
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia
1.000 GeneticVariation disease CLINVAR First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review. 27312557 2016
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia
1.000 GeneticVariation disease CLINVAR Reversible Deterioration in Hypophosphatasia Caused by Renal Failure With Bisphosphonate Treatment. 25736332 2015
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia
1.000 CausalMutation disease CLINVAR Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients. 25731960 2015
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia
1.000 GeneticVariation disease CLINVAR Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing. 26432670 2015
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia
1.000 GeneticVariation disease CLINVAR Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients. 25731960 2015
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia
1.000 GeneticVariation disease CLINVAR Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures. 24100244 2014
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia
1.000 GeneticVariation disease CLINVAR Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia. 24569605 2014
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia
1.000 GeneticVariation disease CLINVAR Benign prenatal hypophosphatasia: a treatable disease not to be missed. 24145968 2014
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia
1.000 GeneticVariation disease CLINVAR Clinical and genetic aspects of hypophosphatasia in Japanese patients. 24276437 2014
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia
1.000 CausalMutation disease CLINVAR Clinical and genetic aspects of hypophosphatasia in Japanese patients. 24276437 2014
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia
1.000 Biomarker disease MGD Tooth root dentin mineralization defects in a mouse model of hypophosphatasia. 22991301 2013