Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR E2-2 protein and Fuchs's corneal dystrophy. 20825314

2010
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Development, cognition, and behaviour in Pitt-Hopkins syndrome. 22712893

2012
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Development, cognition, and behaviour in Pitt-Hopkins syndrome. 22712893

2012
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome. 22678594

2012