Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation. 28965976

2018
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations. 25983619

2015
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia. 19921652

2009
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father. 17352389

2007
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Differentiating campomelic dysplasia from Cumming syndrome. 15754354

2005
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR The phenotype of survivors of campomelic dysplasia. 12161603

2002
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Acampomelic campomelic dysplasia with SOX9 mutation. 10951468

2000
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization. 9452059

1998
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Acampomelic campomelic dysplasia: further radiographic variations. 9066880

1997
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. 7485151

1995
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR A clinical and genetic study of campomelic dysplasia. 7666392

1995