TBL1XR1, TBL1X receptor 1, 79718

N. diseases: 195; N. variants: 16
Disease: Dysmorphic features ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation disease CLINVAR De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity. 28588275 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation disease CLINVAR Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1. 28687524 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation disease BEFREE Recently, a new syndrome with intellectual disability (ID) and dysmorphic features due to deletions or point mutations within the TBL1XR1 gene located in the chromosomal band 3q26.32 has been described (MRD41, OMIM 616944). 28574232 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation disease CLINVAR Pierpont syndrome: report of a new patient. 28562391 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation disease CLINVAR Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain. 26740553 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation disease CLINVAR A specific mutation in TBL1XR1 causes Pierpont syndrome. 26769062 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation disease CLINVAR High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders. 26482601 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation disease CLINVAR A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion. 25425123 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation disease CLINVAR De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability. 24891185 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation disease CLINVAR A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation. 25102098 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation disease CLINVAR Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309 2012