Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4. 28807867

2017
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4. 28807867

2017
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system. 27072915

2016
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system. 27072915

2016
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR Association of TCF4 polymorphisms and Fuchs' endothelial dystrophy: a meta-analysis. 26087656

2015
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Association of TCF4 polymorphisms and Fuchs' endothelial dystrophy: a meta-analysis. 26087656

2015
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome. 22335494

2013
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome. 22335494

2013
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. 22045651

2012
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Development, cognition, and behaviour in Pitt-Hopkins syndrome. 22712893

2012
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy. 23185296

2012
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects. 22460224

2012
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR Development, cognition, and behaviour in Pitt-Hopkins syndrome. 22712893

2012
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects. 22460224

2012
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome. 22678594

2012
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Clinical application of exome sequencing in undiagnosed genetic conditions. 22581936

2012
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome. 22678594

2012
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR Clinical application of exome sequencing in undiagnosed genetic conditions. 22581936

2012
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy. 23185296

2012
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. 22045651

2012
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus. 21245398

2011
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus. 21245398

2011
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy. 21533127

2011
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria. 21671391

2011
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy. 21533127

2011