SKI, SKI proto-oncogene, 6497

N. diseases: 255; N. variants: 22
Disease: Shprintzen-Goldberg syndrome ×
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: 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 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: 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