PUM1, pumilio RNA binding family member 1, 9698

N. diseases: 60; N. variants: 5
Disease: Developmental Disabilities ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		0.020 Biomarker group BEFREE PUM1 has been very recently reported as responsible for a new form of developmental disorder named PADDAS syndrome. 30903679 2019
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		0.020 GeneticVariation group BEFREE We identified eleven individuals with either PUM1 deletions or de novo missense variants who suffer a developmental syndrome (Pumilio1-associated developmental disability, ataxia, and seizure; PADDAS). 29474920 2018