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 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 E2-2 protein and Fuchs's corneal dystrophy. 20825314

2010
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR E2-2 protein and Fuchs's corneal dystrophy. 20825314

2010
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. 19235238

2009
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations. 19938247

2009
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations. 19938247

2009
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. 19235238

2009
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. 18728071

2008
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome. 18627065

2008
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family. 18081026

2008
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family. 18081026

2008
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome. 18627065

2008
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. 18728071

2008
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation 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
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). 17436255

2007
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. 17478476

2007
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation 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
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). 17436255

2007
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 CausalMutation CLINVAR Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. 17478476

2007