SKI, SKI proto-oncogene, 6497

N. diseases: 255; N. variants: 22
Disease: Spina Bifida ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.010 GeneticVariation disease BEFREE A de novo mutation in DHD domain of SKI causing spina bifida with no craniofacial malformation or intellectual disability. 30883014 2019