TBX4, T-box transcription factor 4, 9496

N. diseases: 127; N. variants: 12
Disease: Pierre Robin sequence with pectus excavatum and rib and scapular anomalies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs781496033
rs781496033
Entrez Id: 9496
Gene Symbol: TBX4
TBX4
CUI: C1865783
Disease:
Pierre Robin sequence with pectus excavatum and rib and scapular anomalies 		0.010 GeneticVariation BEFREE A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome. 24038782 2013