Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 56172
Gene Symbol: ANKH
ANKH
0.060 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
Entrez Id: 56172
Gene Symbol: ANKH
ANKH
0.060 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
Entrez Id: 56172
Gene Symbol: ANKH
ANKH
0.060 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
Entrez Id: 56172
Gene Symbol: ANKH
ANKH
0.060 GeneticVariation disease BEFREE Mutations for autosomal dominant CMD have been identified in the ANK gene (ANKH). 24219578 2013
Entrez Id: 56172
Gene Symbol: ANKH
ANKH
0.060 GeneticVariation disease BEFREE Here, we investigated the effects of CMD-mutant ANK on mineralization and bone mass at a cellular level. 21149338 2011
Entrez Id: 56172
Gene Symbol: ANKH
ANKH
0.060 GeneticVariation disease BEFREE We generated the first knockin (KI) mouse model for CMD expressing a human mutation (Phe377 deletion) in ANK. 19257826 2009