TCF4, transcription factor 4, 6925

N. diseases: 378; N. variants: 111
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 		0.120 CausalMutation disease CLINVAR Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. 17436254 2007
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation disease CLINVAR Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). 17436255 2007
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation disease CLINVAR Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. 17478476 2007
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation disease CLINVAR Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. 17436254 2007
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation disease CLINVAR Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). 17436255 2007
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation disease CLINVAR Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. 17478476 2007
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation disease CLINVAR Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. 18728071 2008
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation disease CLINVAR Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome. 18627065 2008
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation disease CLINVAR A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family. 18081026 2008
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation disease CLINVAR A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family. 18081026 2008
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation disease CLINVAR Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome. 18627065 2008
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation disease CLINVAR Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. 18728071 2008
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation disease CLINVAR Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. 19235238 2009
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation disease CLINVAR Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations. 19938247 2009
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation disease CLINVAR Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations. 19938247 2009
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation disease CLINVAR Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. 19235238 2009
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation disease CLINVAR E2-2 protein and Fuchs's corneal dystrophy. 20825314 2010
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation disease CLINVAR E2-2 protein and Fuchs's corneal dystrophy. 20825314 2010
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation disease CLINVAR Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy. 21533127 2011
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation disease CLINVAR The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria. 21671391 2011
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation disease CLINVAR Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy. 21533127 2011
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation disease CLINVAR The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria. 21671391 2011
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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