Disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1852502
Disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT 		0.990 AlteredExpression disease BEFREE Co-expressing wt and CMD-mutant ANK in cells showed that CMD-mutant ANK does not negatively affect wt ANK expression and localization, and vice versa. 30356088 2018
CUI: C1852502
Disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT 		0.990 GeneticVariation disease BEFREE We performed dentofacial examination of patients with CMD and evaluated consequences of orthodontic movement in a mouse model carrying a CMD knock-in (KI) mutation (Phe377del) in the Ank gene. 24663682 2014
CUI: C1852502
Disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT 		0.990 GeneticVariation disease BEFREE CMD can be inherited in an autosomal dominant (AD) trait or occur after de novo mutations in the pyrophosphate transporter ANKH. 23951358 2013
CUI: C1852502
Disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT 		0.990 GeneticVariation disease BEFREE Mutations for autosomal dominant CMD have been identified in the ANK gene (ANKH). 24219578 2013
CUI: C1852502
Disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT 		0.990 GeneticVariation disease BEFREE One of the most common form is the autosomal dominant craniometaphyseal dysplasia (CMD) which is associated with mutation in the ANKH gene. 21465646 2011
CUI: C1852502
Disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT 		0.990 GeneticVariation disease BEFREE Here, we investigated the effects of CMD-mutant ANK on mineralization and bone mass at a cellular level. 21149338 2011
CUI: C1852502
Disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT 		0.990 Biomarker disease MGD We generated the first knockin (KI) mouse model for CMD expressing a human mutation (Phe377 deletion) in ANK. 19257826 2009
CUI: C1852502
Disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT 		0.990 GeneticVariation disease BEFREE We generated the first knockin (KI) mouse model for CMD expressing a human mutation (Phe377 deletion) in ANK. 19257826 2009
CUI: C1852502
Disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT 		0.990 GeneticVariation disease BEFREE ANKH, the human homolog of the mutated gene in the ank/ank mouse, has been implicated in familial autosomal-dominant chondrocalcinosis and autosomal-dominant craniometaphyseal dysplasia. 14558096 2003
CUI: C1852502
Disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT 		0.990 GeneticVariation disease BEFREE Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. 11326338 2001
CUI: C1852502
Disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT 		0.990 GeneticVariation disease UNIPROT Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. 11326338 2001
CUI: C1852502
Disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT 		0.990 GeneticVariation disease UNIPROT Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. 11326272 2001
CUI: C1852502
Disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT 		0.990 Biomarker disease GENOMICS_ENGLAND Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease. 9915952 1999
CUI: C1852502
Disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT 		0.990 CausalMutation disease CLINVAR
CUI: C1852502
Disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT 		0.990 Biomarker disease CTD_human