PUS7, pseudouridine synthase 7, 54517

N. diseases: 26; N. variants: 0
Disease: Dwarfism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.400 Biomarker disease GENOMICS_ENGLAND Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. 30526862 2018
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.400 Biomarker disease HPO