TCF4, transcription factor 4, 6925

N. diseases: 378; N. variants: 111
Disease: Muscle hypotonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555710171
rs1555710171
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4. 28807867 2017
dbSNP: rs1555710171
rs1555710171
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system. 27072915 2016
dbSNP: rs1555710171
rs1555710171
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Association of TCF4 polymorphisms and Fuchs' endothelial dystrophy: a meta-analysis. 26087656 2015
dbSNP: rs1555710171
rs1555710171
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome. 22335494 2013
dbSNP: rs1555710171
rs1555710171
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 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
dbSNP: rs1555710171
rs1555710171
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy. 23185296 2012
dbSNP: rs1555710171
rs1555710171
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome. 22678594 2012
dbSNP: rs1555710171
rs1555710171
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Clinical application of exome sequencing in undiagnosed genetic conditions. 22581936 2012
dbSNP: rs1555710171
rs1555710171
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. 22045651 2012
dbSNP: rs1555710171
rs1555710171
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Development, cognition, and behaviour in Pitt-Hopkins syndrome. 22712893 2012
dbSNP: rs1555710171
rs1555710171
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria. 21671391 2011
dbSNP: rs1555710171
rs1555710171
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy. 21533127 2011
dbSNP: rs1555710171
rs1555710171
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus. 21245398 2011
dbSNP: rs1555710171
rs1555710171
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR E2-2 protein and Fuchs's corneal dystrophy. 20825314 2010
dbSNP: rs1555710171
rs1555710171
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. 19235238 2009
dbSNP: rs1555710171
rs1555710171
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations. 19938247 2009
dbSNP: rs1555710171
rs1555710171
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. 18728071 2008
dbSNP: rs1555710171
rs1555710171
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome. 18627065 2008
dbSNP: rs1555710171
rs1555710171
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family. 18081026 2008
dbSNP: rs1555710171
rs1555710171
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. 17478476 2007
dbSNP: rs1555710171
rs1555710171
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). 17436255 2007
dbSNP: rs1555710171
rs1555710171
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 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