PUM1, pumilio RNA binding family member 1, 9698

N. diseases: 60; N. variants: 5
Disease: SPINOCEREBELLAR ATAXIA 47 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs771145682
rs771145682
Entrez Id: 9698
Gene Symbol: PUM1
PUM1
CUI: C4693672
Disease:
SPINOCEREBELLAR ATAXIA 47 		0.800 GeneticVariation UNIPROT A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. 29474920 2018
dbSNP: rs771145682
rs771145682
Entrez Id: 9698
Gene Symbol: PUM1
PUM1
CUI: C4693672
Disease:
SPINOCEREBELLAR ATAXIA 47 		A 0.800 GeneticVariation CLINVAR A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. 29474920 2018
dbSNP: rs1557539450
rs1557539450
Entrez Id: 9698
Gene Symbol: PUM1
PUM1
CUI: C4693672
Disease:
SPINOCEREBELLAR ATAXIA 47 		A 0.700 GeneticVariation CLINVAR A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. 29474920 2018
dbSNP: rs1557541619
rs1557541619
Entrez Id: 9698;692234
Gene Symbol: PUM1;SNORD103A
PUM1;SNORD103A
CUI: C4693672
Disease:
SPINOCEREBELLAR ATAXIA 47 		A 0.700 GeneticVariation CLINVAR A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. 29474920 2018