SOX9, SRY-box transcription factor 9, 6662

N. diseases: 466; N. variants: 25
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: rs2229989
rs2229989
Entrez Id: 6662;400618
Gene Symbol: SOX9;SOX9-AS1
SOX9;SOX9-AS1
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