Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 CausalMutation 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
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 CausalMutation 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
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 CausalMutation CLINVAR Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. 17704778

2007