CEP55, centrosomal protein 55, 55165

N. diseases: 134; N. variants: 4
Disease: Renal hepatic pancreatic dysplasia Dandy Walker cyst ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2673885
Disease: Renal hepatic pancreatic dysplasia Dandy Walker cyst
Renal hepatic pancreatic dysplasia Dandy Walker cyst 		0.310 Biomarker disease GENOMICS_ENGLAND A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy. 28295209 2017
CUI: C2673885
Disease: Renal hepatic pancreatic dysplasia Dandy Walker cyst
Renal hepatic pancreatic dysplasia Dandy Walker cyst 		0.310 GeneticVariation disease BEFREE A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy. 28295209 2017