SKI, SKI proto-oncogene, 6497

N. diseases: 255; N. variants: 22
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0.740 GeneticVariation disease UNIPROT As the majority of the known mutations are located in the R-SMAD binding domain of SKI, our study further emphasizes the importance of TGFβ signaling in the pathogenesis of SGS. 24736733 2015
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0.740 GeneticVariation disease CLINVAR Morpholino-induced silencing of SKI paralogs in zebrafish recapitulated abnormalities seen in humans with SGS. 23023332 2012
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0.740 GeneticVariation disease UNIPROT Morpholino-induced silencing of SKI paralogs in zebrafish recapitulated abnormalities seen in humans with SGS. 23023332 2012
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0.740 GeneticVariation disease UNIPROT We describe two additional patients with exon 1 SKI mutations and review the clinical features and literature of Shprintzen-Goldberg syndrome. 24357594 2014
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0.740 GeneticVariation disease CLINVAR The interaction between SKI and Smad2/3 and Smad 4 regulates TGF-β signaling, and the pattern of anomalies in Ski-deficient mice corresponds to the clinical manifestations of SGS. 23103230 2012
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0.740 GeneticVariation disease BEFREE We describe two additional patients with exon 1 SKI mutations and review the clinical features and literature of Shprintzen-Goldberg syndrome. 24357594 2014
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0.740 GeneticVariation disease CLINVAR As the majority of the known mutations are located in the R-SMAD binding domain of SKI, our study further emphasizes the importance of TGFβ signaling in the pathogenesis of SGS. 24736733 2015
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0.740 GeneticVariation disease UNIPROT The interaction between SKI and Smad2/3 and Smad 4 regulates TGF-β signaling, and the pattern of anomalies in Ski-deficient mice corresponds to the clinical manifestations of SGS. 23103230 2012
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		0.310 GeneticVariation disease BEFREE Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. 23023332 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.120 GeneticVariation group BEFREE A de novo mutation in DHD domain of SKI causing spina bifida with no craniofacial malformation or intellectual disability. 30883014 2019
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		0.100 GeneticVariation phenotype GWASCAT PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity. 30046033 2018
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 30224653 2018
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		0.100 GeneticVariation phenotype CLINVAR
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.100 GeneticVariation phenotype GWASCAT GWAS identifies 14 loci for device-measured physical activity and sleep duration. 30531941 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 GeneticVariation group BEFREE Experimental animals treated with SKI-606 developed tumors of a significantly smaller volume and a significant decrease (50%) in experimental skeletal lesion area. 20423991 2010
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.040 GeneticVariation disease BEFREE The dual Src/Abl kinase inhibitor bosutinib (SKI-606) targets the tyrosine kinase brc-abl, the key enzyme in the development of chronic myeloid leukemia (CML). 23098112 2012
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 GeneticVariation disease BEFREE SGS gene-mapping in a pedigree identified a 0.5 Mb genome-wide significant region at <i>12q15</i> This region segregated through 32 meioses to 8 breast cancer cases with extreme PC3 tumors (<i>P</i> = 2.6 × 10<sup>-8</sup>).<b>Conclusions:</b> PC analysis of PAM50 gene expression revealed multiple independent, quantitative measures of tumor diversity. 29650789 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 GeneticVariation disease BEFREE SGS gene-mapping in a pedigree identified a 0.5 Mb genome-wide significant region at <i>12q15</i> This region segregated through 32 meioses to 8 breast cancer cases with extreme PC3 tumors (<i>P</i> = 2.6 × 10<sup>-8</sup>).<b>Conclusions:</b> PC analysis of PAM50 gene expression revealed multiple independent, quantitative measures of tumor diversity. 29650789 2018
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 GeneticVariation group BEFREE A de novo mutation in DHD domain of SKI causing spina bifida with no craniofacial malformation or intellectual disability. 30883014 2019
CUI: C0011175
Disease: Dehydration
Dehydration 		0.010 GeneticVariation phenotype BEFREE We designed a study to compare rapid intravenous rehydration based on 0.9% normal saline (NS) or on NS + glucose 2.5% serum (SGS 2.5%) in patients with dehydration secondary to acute gastroenteritis. 28463940 2018