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 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 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: 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 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 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 		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 		0.800 GeneticVariation UNIPROT In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. 23103230 2012
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: 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: rs11576356
rs11576356
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C3828530
Disease:
Platelet Component Distribution Width Measurement 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs1553189986
rs1553189986
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C1321551
Disease:
Shprintzen-Goldberg syndrome 		A 0.700 CausalMutation CLINVAR Direct interaction of Ski with either Smad3 or Smad4 is necessary and sufficient for Ski-mediated repression of transforming growth factor-beta signaling. 12857746 2003
dbSNP: rs1553189986
rs1553189986
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C1321551
Disease:
Shprintzen-Goldberg syndrome 		A 0.700 CausalMutation CLINVAR Structural mechanism of Smad4 recognition by the nuclear oncoprotein Ski: insights on Ski-mediated repression of TGF-beta signaling. 12419246 2002
dbSNP: rs387907303
rs387907303
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C1321551
Disease:
Shprintzen-Goldberg syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs387907305
rs387907305
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C1321551
Disease:
Shprintzen-Goldberg syndrome 		A 0.700 CausalMutation CLINVAR
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: 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: 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: 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: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. 15884042 2005