Gene: PUM1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9698
Gene Symbol: PUM1
PUM1 		0.310 Biomarker phenotype GENOMICS_ENGLAND PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy. 31859446 2020
Entrez Id: 9698
Gene Symbol: PUM1
PUM1 		0.310 GeneticVariation phenotype BEFREE A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. 29474920 2018