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 CLINVAR Compound heterozygosity of two functional null mutations in the ALPL gene associated with deleterious neurological outcome in an infant with hypophosphatasia. 23454488 2013
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 CausalMutation disease 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
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 GeneticVariation disease CLINVAR Outcome of perinatal hypophosphatasia in manitoba mennonites: a retrospective cohort analysis. 23580367 2013
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 Functional evaluation of mutations in the tissue-nonspecific alkaline phosphatase gene. 23509830 2012
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 CausalMutation disease CLINVAR Enzyme-replacement therapy in life-threatening hypophosphatasia. 22397652 2012
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 GeneticVariation disease CLINVAR Correction of hypophosphatasia-associated mineralization deficiencies in vitro by phosphate/pyrophosphate modulation in periodontal ligament cells. 22014174 2012
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 GeneticVariation disease CLINVAR Rare coding variants in ALPL are associated with low serum alkaline phosphatase and low bone mineral density. 21956185 2012
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 GeneticVariation disease CLINVAR Enzyme-replacement therapy in life-threatening hypophosphatasia. 22397652 2012
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 GeneticVariation disease CLINVAR Whole-body MRI in the childhood form of hypophosphatasia. 20383509 2011
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 Biomarker disease BEFREE TNALP-null mice (Akp2(-/-)) phenocopy human infantile hypophosphatasia; they develop rickets at 1 week of age, and die before being weaned, having severe skeletal and dental hypomineralization and episodes of apnea and vitamin B(6)-responsive seizures. 21212313 2011
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 CausalMutation disease CLINVAR Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review). 21713987 2011
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 GeneticVariation disease CLINVAR Molecular characterization of tissue-nonspecific alkaline phosphatase with an Ala to Thr substitution at position 116 associated with dominantly inherited hypophosphatasia. 21168482 2011
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 CLINVAR Genetic etiology and dental pulp cell deficiency of hypophosphatasia. 20924064 2010
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 GeneticVariation disease CLINVAR Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availability. 20049532 2010
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 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 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 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 GeneticVariation disease BEFREE 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 GeneticVariation disease CLINVAR Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia. 19335222 2009
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 GeneticVariation disease CLINVAR Neurosurgical aspects of childhood hypophosphatasia. 18769927 2009
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 CausalMutation 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 Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement. 18559907 2008