TCF4, transcription factor 4, 6925

N. diseases: 378; N. variants: 111
Disease: PITT-HOPKINS SYNDROME ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1568303352
rs1568303352
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C1970431
Disease:
PITT-HOPKINS SYNDROME 		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: rs1568303352
rs1568303352
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C1970431
Disease:
PITT-HOPKINS SYNDROME 		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: rs1568303352
rs1568303352
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C1970431
Disease:
PITT-HOPKINS SYNDROME 		A 0.700 GeneticVariation CLINVAR Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome. 22777675 2012
dbSNP: rs1568303352
rs1568303352
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C1970431
Disease:
PITT-HOPKINS SYNDROME 		A 0.700 GeneticVariation CLINVAR Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. 19235238 2009