CEP55, centrosomal protein 55, 55165

N. diseases: 134; N. variants: 4
Disease: Fetal Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015929
Disease: Fetal Diseases
Fetal Diseases 		0.010 GeneticVariation group BEFREE Here we identified a novel homozygous founder frameshift variant in CEP55, present at low frequency in the Amish community, in two siblings presenting with a lethal foetal disorder. 30622327 2019