Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B
0.700 CausalMutation disease CLINVAR Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay. 22609145 2012
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B
0.700 CausalMutation disease CLINVAR Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism. 19238151 2010
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B
0.700 CausalMutation disease CLINVAR Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. 17704778 2007
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B
0.700 GeneticVariation disease UNIPROT Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. 17704778 2007
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B
0.700 Biomarker disease GENOMICS_ENGLAND Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. 17704778 2007
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B
0.700 Biomarker disease CTD_human