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: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
0.350 Biomarker group BEFREE Haploinsufficiency of TCF4 was found to cause Pitt-Hopkins syndrome (PTHS), a severe neurodevelopmental disorder. 30830316 2019
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
0.350 GeneticVariation group BEFREE In humans, loss of function of Tcf4 leads to the rare neurodevelopmental disorder Pitt-Hopkins syndrome, which is characterized by intellectual disability, developmental delay and autistic behavior. 29933371 2018
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
0.350 GeneticVariation group BEFREE These data demonstrate that TCF4 binding sites are found in a large number of neuronal genes that include many genetic risk factors for common neurodevelopmental disorders. 29228394 2018
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
0.350 Biomarker group CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
0.350 Biomarker group 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: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
0.350 Biomarker group BEFREE It has been hypothesized that TCF4 affects normal brain development and TCF4 has been related to different forms of neurodevelopmental disorders. 21228604 2011