PUM1, pumilio RNA binding family member 1, 9698

N. diseases: 13; N. variants: 4
Source: CURATED ×
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: rs4642942
rs4642942
Entrez Id: 9698
Gene Symbol: PUM1
PUM1
CUI: C0424574
Disease:
Duration of sleep 		C 0.700 GeneticVariation GWASCAT Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways. 30804565 2019
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