CEP290, centrosomal protein 290, 80184

N. diseases: 196; N. variants: 100
Disease: Occipital Encephalocele ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		0.100 GeneticVariation disease CLINVAR
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		0.100 CausalMutation disease CLINVAR