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: rs397514589
rs397514589
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C1321551
Disease:
Shprintzen-Goldberg syndrome
0.800 GeneticVariation UNIPROT The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome. 24736733 2015
dbSNP: rs397514590
rs397514590
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C1321551
Disease:
Shprintzen-Goldberg syndrome
0.800 GeneticVariation UNIPROT The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome. 24736733 2015
dbSNP: rs397514590
rs397514590
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C1321551
Disease:
Shprintzen-Goldberg syndrome
T 0.800 CausalMutation CLINVAR The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome. 24736733 2015
dbSNP: rs397514589
rs397514589
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C1321551
Disease:
Shprintzen-Goldberg syndrome
0.800 GeneticVariation UNIPROT De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review. 24357594 2014
dbSNP: rs397514590
rs397514590
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C1321551
Disease:
Shprintzen-Goldberg syndrome
T 0.800 CausalMutation CLINVAR De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review. 24357594 2014
dbSNP: rs397514590
rs397514590
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C1321551
Disease:
Shprintzen-Goldberg syndrome
0.800 GeneticVariation UNIPROT De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review. 24357594 2014
dbSNP: rs397514589
rs397514589
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C1321551
Disease:
Shprintzen-Goldberg syndrome
0.800 GeneticVariation UNIPROT Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. 23023332 2012
dbSNP: rs397514589
rs397514589
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C1321551
Disease:
Shprintzen-Goldberg syndrome
0.800 GeneticVariation UNIPROT In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. 23103230 2012
dbSNP: rs397514590
rs397514590
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C1321551
Disease:
Shprintzen-Goldberg syndrome
0.800 GeneticVariation UNIPROT Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. 23023332 2012
dbSNP: rs397514590
rs397514590
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C1321551
Disease:
Shprintzen-Goldberg syndrome
T 0.800 CausalMutation CLINVAR In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. 23103230 2012
dbSNP: rs397514590
rs397514590
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C1321551
Disease:
Shprintzen-Goldberg syndrome
0.800 GeneticVariation UNIPROT In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. 23103230 2012
dbSNP: rs397514590
rs397514590
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C1321551
Disease:
Shprintzen-Goldberg syndrome
T 0.800 CausalMutation CLINVAR Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. 23023332 2012
dbSNP: rs397514589
rs397514589
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C1321551
Disease:
Shprintzen-Goldberg syndrome
A 0.800 GeneticVariation CLINVAR
dbSNP: rs397514589
rs397514589
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C1321551
Disease:
Shprintzen-Goldberg syndrome
A 0.800 CausalMutation CLINVAR
dbSNP: rs397514589
rs397514589
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C1321551
Disease:
Shprintzen-Goldberg syndrome
G 0.800 GeneticVariation CLINVAR
dbSNP: rs869312901
rs869312901
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C1321551
Disease:
Shprintzen-Goldberg syndrome
C 0.800 CausalMutation CLINVAR
dbSNP: rs869312901
rs869312901
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C1321551
Disease:
Shprintzen-Goldberg syndrome
0.800 GeneticVariation UNIPROT
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: rs76154380
rs76154380
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C0042834
Disease:
Vital capacity
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs76875252
rs76875252
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs76875252
rs76875252
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C0427460
Disease:
Red cell distribution width determination
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: rs260508
rs260508
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C0871470
Disease:
Systolic Pressure
T 0.700 GeneticVariation GWASCAT Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 30224653 2018
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: rs61776614
rs61776614
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C4049938
Disease:
Physical Activity Measurement
C 0.700 GeneticVariation GWASCAT GWAS identifies 14 loci for device-measured physical activity and sleep duration. 30531941 2018