SKI, SKI proto-oncogene, 6497

N. diseases: 255; N. variants: 22
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs377599
rs377599
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1692580
rs1692580
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C1956346
Disease:
Coronary Artery Disease 		T 0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
dbSNP: rs863223722
rs863223722
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C1836996
Disease:
Disproportionate tall stature 		A 0.700 GeneticVariation CLINVAR
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 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 		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 		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 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 		T 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 		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 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: rs4648819
rs4648819
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C0429087
Disease:
Electrocardiogram: P-R interval 		G 0.700 GeneticVariation GWASCAT PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity. 30046033 2018
dbSNP: rs387907306
rs387907306
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C0000772
Disease:
Multiple congenital anomalies 		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: C0000772
Disease:
Multiple congenital anomalies 		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: C0000772
Disease:
Multiple congenital anomalies 		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: C0000772
Disease:
Multiple congenital anomalies 		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: C0000772
Disease:
Multiple congenital anomalies 		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: C0000772
Disease:
Multiple congenital anomalies 		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: C0000772
Disease:
Multiple congenital anomalies 		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: C0000772
Disease:
Multiple congenital anomalies 		T 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: C0000772
Disease:
Multiple congenital anomalies 		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: C0000772
Disease:
Multiple congenital anomalies 		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: C0026827
Disease:
Muscle hypotonia 		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