TCF4, transcription factor 4, 6925

N. diseases: 378; N. variants: 111
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9960767
rs9960767
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0036341
Disease:
Schizophrenia
0.880 GeneticVariation BEFREE Here, we replicated the four European GWAS hits, miR-137-rs1625579 and three of its validated target gene loci SNPs (ZNF804a-rs1344706, CACNA1C-rs4765905 and TCF4-rs9960767) by genotyping in 2074 samples (schizophrenia cases-1005; controls-1069) from South Indian Population. 29599094 2018
dbSNP: rs9960767
rs9960767
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0036341
Disease:
Schizophrenia
0.880 GeneticVariation BEFREE These results imply that PPI might be modulated by four genotypes - COMT rs4680 (primarily in males), GRIK3 rs1027599, TCF4 rs9960767, and PRODH rs385440 - indicating a role of these gene variations in the development of early information processing deficits in schizophrenia. 29287625 2018
dbSNP: rs9960767
rs9960767
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0036341
Disease:
Schizophrenia
0.880 GeneticVariation BEFREE The analyses on the 28 individual SNPs previously associated with schizophrenia found that two SNPs in TCF4 returned a significant association with the SPEQ Paranoia dimension, rs17512836 (p-value = 2.57×10⁻⁴) and rs9960767 (p-value = 6.23×10⁻⁴). 24718684 2014
dbSNP: rs9960767
rs9960767
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0036341
Disease:
Schizophrenia
0.880 GeneticVariation BEFREE Single nucleotide polymorphisms in TCF4 gene have been consistently associated with schizophrenia in genome wide association studies, including the C allele of rs9960767. 24275585 2014
dbSNP: rs9960767
rs9960767
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0036341
Disease:
Schizophrenia
0.880 GeneticVariation BEFREE P50 suppression was significantly decreased in carriers of schizophrenia risk alleles of the TCF4 polymorphisms rs9960767, rs10401120rs, rs17597926, and 17512836 (P < 0.0002-0.00005). 22451930 2012
dbSNP: rs9960767
rs9960767
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0036341
Disease:
Schizophrenia
0.880 GeneticVariation BEFREE We therefore investigated the impact of the schizophrenia susceptibility gene TCF4 (rs9960767) on sensorimotor gating of the ASR in healthy humans and in patients with a schizophrenia spectrum disorder. 21543597 2011
dbSNP: rs9960767
rs9960767
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0036341
Disease:
Schizophrenia
0.880 GeneticVariation BEFREE As measured by prepulse inhibition, the schizophrenia risk allele C of TCF4 rs9960767 reduces sensorimotor gating. 21932083 2011
dbSNP: rs9960767
rs9960767
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0036341
Disease:
Schizophrenia
0.880 GeneticVariation BEFREE Thus, we hypothesized that the disease-associated C allele of the rs9960767 polymorphism of the TCF4 gene led to impaired VDM functioning in schizophrenia patients. 21228604 2011
dbSNP: rs9960767
rs9960767
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0036341
Disease:
Schizophrenia
0.880 GeneticVariation GWASDB Common variants at VRK2 and TCF4 conferring risk of schizophrenia. 21791550 2011
dbSNP: rs9960767
rs9960767
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0036341
Disease:
Schizophrenia
C 0.880 GeneticVariation GWASDB Common variants conferring risk of schizophrenia. 19571808 2009
dbSNP: rs9960767
rs9960767
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0036341
Disease:
Schizophrenia
C 0.880 GeneticVariation GWASCAT Common variants conferring risk of schizophrenia. 19571808 2009
dbSNP: rs121909120
rs121909120
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C1970431
Disease:
PITT-HOPKINS SYNDROME
0.810 GeneticVariation BEFREE Here, we generated two novel mouse models of PTHS, one that mimics the most common pathogenic <i>TCF4</i> point mutation (human R580W, mouse R579W) and one that deletes three pathogenic arginines, and explored phenotypes of these lines alongside models of pan-cellular or CNS-specific heterozygous <i>Tcf4</i> disruption. 29222403 2018
dbSNP: rs121909120
rs121909120
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C1970431
Disease:
PITT-HOPKINS SYNDROME
0.810 GeneticVariation UNIPROT De novo mutations in moderate or severe intellectual disability. 25356899 2014
dbSNP: rs17512836
rs17512836
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0036341
Disease:
Schizophrenia
0.810 GeneticVariation BEFREE The analyses on the 28 individual SNPs previously associated with schizophrenia found that two SNPs in TCF4 returned a significant association with the SPEQ Paranoia dimension, rs17512836 (p-value = 2.57×10⁻⁴) and rs9960767 (p-value = 6.23×10⁻⁴). 24718684 2014
dbSNP: rs121909120
rs121909120
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C1970431
Disease:
PITT-HOPKINS SYNDROME
0.810 GeneticVariation UNIPROT Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome. 22777675 2012
dbSNP: rs121909120
rs121909120
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C1970431
Disease:
PITT-HOPKINS SYNDROME
0.810 GeneticVariation UNIPROT Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. 22045651 2012
dbSNP: rs17512836
rs17512836
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0036341
Disease:
Schizophrenia
C 0.810 GeneticVariation GWASDB Genome-wide association study identifies five new schizophrenia loci. 21926974 2011
dbSNP: rs17512836
rs17512836
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0036341
Disease:
Schizophrenia
C 0.810 GeneticVariation GWASCAT Genome-wide association study identifies five new schizophrenia loci. 21926974 2011
dbSNP: rs121909120
rs121909120
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C1970431
Disease:
PITT-HOPKINS SYNDROME
0.810 GeneticVariation UNIPROT Two percent of patients suspected of having Angelman syndrome have TCF4 mutations. 20184619 2010
dbSNP: rs121909120
rs121909120
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C1970431
Disease:
PITT-HOPKINS SYNDROME
0.810 GeneticVariation UNIPROT Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. 19235238 2009
dbSNP: rs121909120
rs121909120
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C1970431
Disease:
PITT-HOPKINS SYNDROME
0.810 GeneticVariation UNIPROT Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. 18728071 2008
dbSNP: rs121909120
rs121909120
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C1970431
Disease:
PITT-HOPKINS SYNDROME
0.810 GeneticVariation UNIPROT Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). 17436255 2007
dbSNP: rs121909120
rs121909120
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C1970431
Disease:
PITT-HOPKINS SYNDROME
0.810 GeneticVariation UNIPROT 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
dbSNP: rs121909120
rs121909120
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C1970431
Disease:
PITT-HOPKINS SYNDROME
A 0.810 CausalMutation CLINVAR
dbSNP: rs613872
rs613872
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0016781
Disease:
Fuchs Endothelial Dystrophy
0.800 GeneticVariation BEFREE Only one of the 54 patients with FECD harboured rs613872 (1.9%). 31554942 2019