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: C1842870
Disease: Chromosome 1p36 Deletion Syndrome
Chromosome 1p36 Deletion Syndrome 		0.320 Biomarker disease BEFREE Thus, SKI may contribute to some of the phenotypes common in 1p36 deletion syndrome, and particularly to facial clefting. 11731796 2002
CUI: C1842870
Disease: Chromosome 1p36 Deletion Syndrome
Chromosome 1p36 Deletion Syndrome 		0.320 ChromosomalRearrangement disease ORPHANET Ski proto-oncogene -/- mice have phenotypes that resemble some of the features observed in patients with 1p36 deletion syndrome. 12376748 2002
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: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		0.310 Biomarker disease CTD_human Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. 23023332 2012
CUI: C0011999
Disease: Diastematomyelia
Diastematomyelia 		0.300 Biomarker disease CTD_human Mice lacking the ski proto-oncogene have defects in neurulation, craniofacial, patterning, and skeletal muscle development. 9284043 1997
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.300 Biomarker group CTD_human Mice lacking the ski proto-oncogene have defects in neurulation, craniofacial, patterning, and skeletal muscle development. 9284043 1997
CUI: C0027806
Disease: Neurenteric Cyst
Neurenteric Cyst 		0.300 Biomarker disease CTD_human Mice lacking the ski proto-oncogene have defects in neurulation, craniofacial, patterning, and skeletal muscle development. 9284043 1997
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome 		0.300 Biomarker disease CTD_human Mice lacking the ski proto-oncogene have defects in neurulation, craniofacial, patterning, and skeletal muscle development. 9284043 1997
CUI: C0151491
Disease: Congenital musculoskeletal anomalies
Congenital musculoskeletal anomalies 		0.300 Biomarker group CTD_human Mice lacking the ski proto-oncogene have defects in neurulation, craniofacial, patterning, and skeletal muscle development. 9284043 1997
CUI: C0152234
Disease: Iniencephaly
Iniencephaly 		0.300 Biomarker disease CTD_human Mice lacking the ski proto-oncogene have defects in neurulation, craniofacial, patterning, and skeletal muscle development. 9284043 1997
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis 		0.300 Biomarker disease CTD_human Mice lacking the ski proto-oncogene have defects in neurulation, craniofacial, patterning, and skeletal muscle development. 9284043 1997
CUI: C0266453
Disease: Exencephaly
Exencephaly 		0.300 Biomarker disease CTD_human Mice lacking the ski proto-oncogene have defects in neurulation, craniofacial, patterning, and skeletal muscle development. 9284043 1997
CUI: C0344479
Disease: Spinal Cord Myelodysplasia
Spinal Cord Myelodysplasia 		0.300 Biomarker disease CTD_human Mice lacking the ski proto-oncogene have defects in neurulation, craniofacial, patterning, and skeletal muscle development. 9284043 1997
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.300 Biomarker group CTD_human Mice lacking the ski proto-oncogene have defects in neurulation, craniofacial, patterning, and skeletal muscle development. 9284043 1997
CUI: C0702169
Disease: Acrania
Acrania 		0.300 Biomarker disease CTD_human Mice lacking the ski proto-oncogene have defects in neurulation, craniofacial, patterning, and skeletal muscle development. 9284043 1997
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.300 Biomarker disease GENOMICS_ENGLAND
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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.120 Biomarker group BEFREE We found that DNA methylation at birth differentiated ADHD trajectories across multiple genomic locations, including probes annotated to SKI (involved in neural tube development), ZNF544 (previously implicated in ADHD), ST3GAL3 (linked to intellectual disability) and PEX2 (related to perixosomal processes). 27217153 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.120 Biomarker group HPO
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.110 Biomarker disease BEFREE Additionally, the immunohistochemical staining-index (SI) score for SKI was significantly higher in AIP than NP, although there was no significant difference between AIP and PDA. 29534839 2018
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker phenotype BEFREE Other genes deleted in a subset of the patients likely play a contributory role in the phenotypes, including GABRD and seizures, PRKCZ and neurologic features, and SKI and dysmorphic and neurologic features. 20635359 2010
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.110 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker phenotype HPO
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019