Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity. 28588275

2017
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1. 28687524

2017
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR Pierpont syndrome: report of a new patient. 28562391

2017
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain. 26740553

2016
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR A specific mutation in TBL1XR1 causes Pierpont syndrome. 26769062

2016
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders. 26482601

2016
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion. 25425123

2015
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability. 24891185

2014
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation. 25102098

2014
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309

2012