PUS7, pseudouridine synthase 7, 54517

N. diseases: 26; N. variants: 0
Disease: Short stature ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0349588
Disease: Short stature
Short stature 		0.400 Biomarker phenotype GENOMICS_ENGLAND Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. 30526862 2018
CUI: C0349588
Disease: Short stature
Short stature 		0.400 Biomarker phenotype HPO