Gene: TCF4 ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		0.120 CausalMutation disease 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 		0.120 GeneticVariation disease 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 		0.120 CausalMutation disease 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 		0.120 GeneticVariation disease 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 		0.120 CausalMutation disease CLINVAR Association of TCF4 polymorphisms and Fuchs' endothelial dystrophy: a meta-analysis. 26087656 2015
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		0.120 GeneticVariation disease CLINVAR Association of TCF4 polymorphisms and Fuchs' endothelial dystrophy: a meta-analysis. 26087656 2015
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		0.120 CausalMutation disease CLINVAR Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome. 22335494 2013
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		0.120 GeneticVariation disease CLINVAR Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome. 22335494 2013
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		0.120 CausalMutation disease 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 		0.120 GeneticVariation disease CLINVAR Development, cognition, and behaviour in Pitt-Hopkins syndrome. 22712893 2012
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		0.120 CausalMutation disease 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 		0.120 CausalMutation disease 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 		0.120 CausalMutation disease CLINVAR Development, cognition, and behaviour in Pitt-Hopkins syndrome. 22712893 2012
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		0.120 GeneticVariation disease 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 		0.120 GeneticVariation disease CLINVAR Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome. 22678594 2012
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		0.120 GeneticVariation disease CLINVAR Clinical application of exome sequencing in undiagnosed genetic conditions. 22581936 2012
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		0.120 CausalMutation disease CLINVAR Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome. 22678594 2012
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		0.120 CausalMutation disease CLINVAR Clinical application of exome sequencing in undiagnosed genetic conditions. 22581936 2012
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		0.120 GeneticVariation disease 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 		0.120 GeneticVariation disease 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 		0.120 CausalMutation disease 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 		0.120 GeneticVariation disease 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 		0.120 CausalMutation disease 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 		0.120 GeneticVariation disease CLINVAR The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria. 21671391 2011
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		0.120 GeneticVariation disease CLINVAR Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy. 21533127 2011