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: rs796053418
rs796053418
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C1970431
Disease:
PITT-HOPKINS SYNDROME 		A 0.700 CausalMutation CLINVAR Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. 22045651 2012