Gene: CD47 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 961
Gene Symbol: CD47
CD47 		0.020 GeneticVariation group BEFREE All known neurological CDG have an autosomal recessive inheritance except for IAP-CDG, an X-linked pure mental retardation syndrome. 23622397 2013
Entrez Id: 961
Gene Symbol: CD47
CD47 		0.020 Biomarker group BEFREE Indeed, mutations in the subunit paralogs N33/Tusc3 and IAP do not yield the pleiotropic phenotypes typical for CDG type I but specifically result in nonsyndromic mental retardation, suggesting that the oxidoreductase activity of these subunits is required for glycosylation of a subset of proteins essential for brain development. 21614585 2011