TCF4, transcription factor 4, 6925

N. diseases: 378; N. variants: 111
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.100 Biomarker phenotype HPO
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.030 GeneticVariation phenotype BEFREE The current study examined the interactive effects of TCF4 and AKT1 variants with gender, family history of psychiatric disorders and ethnicity on the AAO of schizophrenia. 27305091 2016
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.030 Biomarker phenotype BEFREE Our novel findings indicate that TCF4-dependent transcription directs the proper formation of prefrontal cortical minicolumns by regulating the expression of genes involved in early spontaneous neuronal activity, and thus our results provides insights into potential pathophysiological mechanisms of TCF4-associated psychiatric disorders. 28289282 2018
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.030 Biomarker phenotype BEFREE We sequenced BCAs in patients with autism or related NDDs, revealing disruption of 33 loci in four general categories: (1) genes previously associated with abnormal neurodevelopment (e.g., AUTS2, FOXP1, and CDKL5), (2) single-gene contributors to microdeletion syndromes (MBD5, SATB2, EHMT1, and SNURF-SNRPN), (3) novel risk loci (e.g., CHD8, KIRREL3, and ZNF507), and (4) genes associated with later-onset psychiatric disorders (e.g., TCF4, ZNF804A, PDE10A, GRIN2B, and ANK3). 22521361 2012
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
0.100 Biomarker phenotype HPO
CUI: C4022766
Disease: Abnormal large intestine physiology
Abnormal large intestine physiology
0.100 Biomarker phenotype HPO
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology
0.100 Biomarker disease HPO
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
0.300 Biomarker phenotype CTD_human Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. 18728071 2008
CUI: C1854882
Disease: Absent speech
Absent speech
0.100 CausalMutation phenotype CLINVAR
CUI: C1854882
Disease: Absent speech
Absent speech
0.100 Biomarker phenotype HPO
CUI: C0266011
Disease: Accessory nipple
Accessory nipple
0.100 Biomarker disease HPO
CUI: C0266011
Disease: Accessory nipple
Accessory nipple
0.100 CausalMutation disease CLINVAR
CUI: C0221347
Disease: Acrocyanosis
Acrocyanosis
0.100 Biomarker phenotype HPO
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.010 Biomarker disease BEFREE This identified 52 somatic non-synonymous mutations in 32 genes, many of which were novel, including the transcriptional coactivators CREBBP and NCOR1, the transcription factors ERG, SPI1, TCF4 and TCF7L2, components of the Ras signalling pathway, histone genes, genes involved in histone modification (CREBBP and CTCF), and genes previously shown to be targets of recurring DNA copy number alteration in ALL. 21390130 2011
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.010 Biomarker group BEFREE IHC revealed nuclear TCF4 in all adenocarcinoma samples, whereas only 36 % depicted nuclear LEF1 and nuclear β-catenin signals. 23224985 2013
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
0.100 Biomarker disease HPO
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.010 AlteredExpression disease BEFREE Additionally, we generated a LEF1/TCF4 as well as an AXIN2 signature, the latter as representative of WNT/β-catenin activity, following a bioinformatics approach with a gene expression dataset of cerebral metastases in lung adenocarcinoma. 23224985 2013
CUI: C0001430
Disease: Adenoma
Adenoma
0.030 Biomarker group BEFREE The TCF4-binding regions significantly correlate with Wnt-responsive gene expression profiles derived from primary human adenomas and often behave as beta-catenin/TCF4-dependent enhancers in transient reporter assays. 18268006 2008
CUI: C0001430
Disease: Adenoma
Adenoma
0.030 Biomarker group BEFREE Knockout of TCF-4 suppresses growth and maintenance of crypt stem cells, whereas knockout of TCF-1 leads to adenomas. 19749792 2009
CUI: C0001430
Disease: Adenoma
Adenoma
0.030 AlteredExpression group BEFREE Levels of β-catenin, cMyc, and ITF2 were increased in areas of human colon adenomas and carcinomas, compared with nontumor areas of the same tissues. 24846398 2014
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.060 AlteredExpression disease BEFREE The activation of the pathway was mainly due to the mutation of adenomatous polyposis coli (APC) or beta-catenin, and Tcf-4 was highly expressed in these cell lines with upregulated signaling. 12460462 2002
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.060 GeneticVariation disease BEFREE Expression of APC N1026S in SW480 and DLD-1 cells did not diminish beta-catenin/Tcf-4-mediated transcription as effectively as APC wild-type. 18166348 2008
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.060 Biomarker disease BEFREE A proportion of APC wild-type colon carcinomas and melanomas also contains constitutive nuclear Tcf-4/beta-catenin complexes as a result of dominant mutations in the N terminus of beta-catenin that render it insensitive to downregulation by APC, GSK3 beta, and Axin/Conductin. 10549354 2000
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.060 AlteredExpression disease BEFREE Human cancers with beta-catenin regulatory defects had elevated ITF-2 expression, and ITF-2 was repressed by restoring wild-type APC function or inhibiting TCF activity. 12086873 2002
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.060 AlteredExpression disease BEFREE In colon carcinoma cells, loss of APC leads to the accumulation of betacatenin in the nucleus, where it binds to and activates the Tcf-4 transcription factor (reviewed in [1] [2]). 10021369 1999