Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.300 GermlineCausalMutation ORPHANET 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: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.300 GermlineCausalMutation ORPHANET Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. 17704778

2007