Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs768686147
rs768686147
UBR1
0.700 GeneticVariation UNIPROT Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation. 26149651

2015
dbSNP: rs768686147
rs768686147
UBR1
0.700 GeneticVariation UNIPROT Mutations in the human UBR1 gene and the associated phenotypic spectrum. 24599544

2014
dbSNP: rs768686147
rs768686147
UBR1
0.700 GeneticVariation UNIPROT Johanson-Blizzard syndrome. 22072859

2011
dbSNP: rs768686147
rs768686147
UBR1
0.700 GeneticVariation UNIPROT Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome. 21931868

2011
dbSNP: rs768686147
rs768686147
UBR1
0.700 GeneticVariation UNIPROT Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). 16311597

2005