PUS7, pseudouridine synthase 7, 54517

N. diseases: 26; N. variants: 0
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 GeneticVariation group BEFREE We describe two families in which two different homozygous PUS7 mutations (missense and frameshift deletion) segregate with a phenotype comprising intellectual disability and progressive microcephaly. 30778726 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker group BEFREE In this study, we establish Pseudouridine synthase 7 (PUS7), a nuclear protein involved in stem cell development and intellectual disabilities, as a novel interactor of SIRT1. 31451225 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker group GENOMICS_ENGLAND Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. 30526862 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 GeneticVariation group BEFREE Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. 30526862 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker group HPO