PUM1, pumilio RNA binding family member 1, 9698

N. diseases: 60; N. variants: 5
Disease: SPINOCEREBELLAR ATAXIA 47 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4693672
Disease: SPINOCEREBELLAR ATAXIA 47
SPINOCEREBELLAR ATAXIA 47 		0.600 GeneticVariation disease UNIPROT A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. 29474920 2018
CUI: C4693672
Disease: SPINOCEREBELLAR ATAXIA 47
SPINOCEREBELLAR ATAXIA 47 		0.600 GeneticVariation disease CLINVAR A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. 29474920 2018
CUI: C4693672
Disease: SPINOCEREBELLAR ATAXIA 47
SPINOCEREBELLAR ATAXIA 47 		0.600 Biomarker disease GENOMICS_ENGLAND