CEP55, centrosomal protein 55, 55165

N. diseases: 134; N. variants: 4
Disease: Meckel-Gruber syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.300 GermlineCausalMutation disease ORPHANET A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy. 28295209 2017