Gene: PUS7 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54517
Gene Symbol: PUS7
PUS7 		0.410 GeneticVariation disease 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
Entrez Id: 54517
Gene Symbol: PUS7
PUS7 		0.410 Biomarker disease GENOMICS_ENGLAND Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. 30526862 2018
Entrez Id: 54517
Gene Symbol: PUS7
PUS7 		0.410 Biomarker disease HPO