PUM1, pumilio RNA binding family member 1, 9698

N. diseases: 60; N. variants: 5
Disease: Cerebellar Ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.020 GeneticVariation phenotype BEFREE Our findings support the pathogenic role of PUM1 mutations in cerebellar ataxia and emphasize the importance of considering PUM1 mutations as a possible etiology of cerebellar ataxia. 31422002 2019
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.020 GeneticVariation phenotype BEFREE A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. 29474920 2018