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 GeneticVariation disease UNIPROT Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia. 8954059 1996
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 GeneticVariation disease CLINVAR Orodental phenotype and genotype findings in all subtypes of hypophosphatasia. 19232125 2009
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 GeneticVariation disease CLINVAR A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites. 8406453 1993
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 Biomarker disease GENOMICS_ENGLAND A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. 3174660 1988
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 GeneticVariation disease CLINVAR Mutations of the tissue non-specific alkaline phosphatase gene (TNAP) causing a non-lethal case of perinatal hypophosphatasia. 17409132 2007
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 GeneticVariation disease 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
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 CausalMutation disease CLINVAR Mutational and biochemical findings in adults with persistent hypophosphatasemia. 28401263 2017
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 GeneticVariation disease BEFREE These preliminary data provide evidence for linkage between the genes for infantile hypophosphatasia and the Rh blood group and provisionally assign the gene locus for infantile hypophosphatasia (designated HOPS) to chromosome 1p. 3128473 1987
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 CausalMutation disease CLINVAR Orodental phenotype and genotype findings in all subtypes of hypophosphatasia. 19232125 2009
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 GeneticVariation disease CLINVAR Mild hypophosphatasia in utero: bent bones in a family with dental disease. 15840803 2005
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 GeneticVariation disease BEFREE The tissue-nonspecific alkaline phosphatase (TNSALP) gene from five German family members with childhood-type hypophosphatasia (HOPS) was analyzed using the polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP)-direct sequencing method. 11760847 2001
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 GeneticVariation disease CLINVAR Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations. 15694177 2005
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 GeneticVariation disease CLINVAR Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement. 18559907 2008
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 CausalMutation disease CLINVAR A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene. 17922851 2008
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 Biomarker disease HPO
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 Biomarker disease MGD Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6. 7550313 1995
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
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 Clinical characteristics of perinatal lethal hypophosphatasia: a report of 6 cases. 23926372 2010
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 GeneticVariation disease BEFREE The differential diagnosis of pyridoxine or PLP responsive seizure disorders includes PLP-responsive epileptic encephalopathy due to PNPO deficiency, neonatal/infantile hypophosphatasia (TNSALP deficiency), familial hyperphosphatasia (PIGV deficiency), as well as yet unidentified conditions and nutritional vitamin B6 deficiency. 21704546 2012
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 GeneticVariation disease CLINVAR Infantile hypophosphatasia due to a new compound heterozygous TNSALP mutation - functional evidence for a hydrophobic side-chain? 18523927 2009
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