CELF2, CUGBP Elav-like family member 2, 10659

N. diseases: 58; N. variants: 22
Disease: Shprintzen-Goldberg syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0.010 GeneticVariation disease BEFREE We did not find BRUNOL3 mutations in 92 DiGeorge syndrome-like patients without chromosomal deletions and in 8 parents with congenital heart defect children. 12110949 2002