PUF60, poly(U) binding splicing factor 60, 22827

N. diseases: 188; N. variants: 24
Disease: Dwarfism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 GeneticVariation disease BEFREE Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature. 27804958 2016
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 Biomarker disease HPO