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: 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: C0036572
Disease: Seizures
Seizures
0.110 Biomarker phenotype HPO