Gene: TCF4 ×
Source: ALL
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 AlteredExpression disease BEFREE Although validation in additional patients is required, our findings suggest that the dysmorphic features and severe intellectual disability characteristic of PTHS are partially rescued by overexpression of those short TCF4 transcripts encoding a nuclear localization signal, a transcription activation domain, and the basic helix-loop-helix domain. 27179618 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 GeneticVariation disease BEFREE Pitt-Hopkins syndrome is characterized by mental retardation, hyperventilation, and dysmorphic features due to TCF4 mutations. 23248353 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