SKI, SKI proto-oncogene, 6497

N. diseases: 255; N. variants: 22
Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907306
rs387907306
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations. 27146836 2016
dbSNP: rs387907306
rs387907306
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations. 27146836 2016
dbSNP: rs387907306
rs387907306
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome. 24736733 2015
dbSNP: rs387907306
rs387907306
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome. 24736733 2015
dbSNP: rs387907306
rs387907306
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. 23103230 2012
dbSNP: rs387907306
rs387907306
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. 23023332 2012
dbSNP: rs387907306
rs387907306
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. 23023332 2012
dbSNP: rs387907306
rs387907306
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. 23103230 2012
dbSNP: rs387907306
rs387907306
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. 15884042 2005
dbSNP: rs387907306
rs387907306
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. 15884042 2005