Disease: ODONTOHYPOPHOSPHATASIA (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1840322
Disease: ODONTOHYPOPHOSPHATASIA (disorder)
ODONTOHYPOPHOSPHATASIA (disorder) 		0.610 Biomarker disease MGD Periodontal Defects in the A116T Knock-in Murine Model of Odontohypophosphatasia. 25716980 2015
CUI: C1840322
Disease: ODONTOHYPOPHOSPHATASIA (disorder)
ODONTOHYPOPHOSPHATASIA (disorder) 		0.610 GeneticVariation disease BEFREE Clinical identification of low serum TNAP activity, dental abnormalities, and pedigree data strongly suggests a genotype-phenotype correlation between p.N440del and odonto-HPP in this family. 23791648 2013
CUI: C1840322
Disease: ODONTOHYPOPHOSPHATASIA (disorder)
ODONTOHYPOPHOSPHATASIA (disorder) 		0.610 Biomarker disease MGD New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis. 22527485 2012
CUI: C1840322
Disease: ODONTOHYPOPHOSPHATASIA (disorder)
ODONTOHYPOPHOSPHATASIA (disorder) 		0.610 Biomarker disease MGD Novel mouse model of autosomal semidominant adult hypophosphatasia has a splice site mutation in the tissue nonspecific alkaline phosphatase gene Akp2. 17539739 2007
CUI: C1840322
Disease: ODONTOHYPOPHOSPHATASIA (disorder)
ODONTOHYPOPHOSPHATASIA (disorder) 		0.610 GermlineCausalMutation disease ORPHANET The milder forms, especially adult and odontohypophosphatasia, may be inherited in an autosomal recessive or autosomal dominant manner depending on the effect that the <i>ALPL</i> pathogenic variant has on TNSALP activity. 17916236 2007
CUI: C1840322
Disease: ODONTOHYPOPHOSPHATASIA (disorder)
ODONTOHYPOPHOSPHATASIA (disorder) 		0.610 GermlineCausalMutation disease ORPHANET Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene. 10737975 2000
CUI: C1840322
Disease: ODONTOHYPOPHOSPHATASIA (disorder)
ODONTOHYPOPHOSPHATASIA (disorder) 		0.610 Biomarker disease MGD Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6. 7550313 1995
CUI: C1840322
Disease: ODONTOHYPOPHOSPHATASIA (disorder)
ODONTOHYPOPHOSPHATASIA (disorder) 		0.610 CausalMutation disease CLINVAR