CEP290, centrosomal protein 290, 80184

N. diseases: 196; N. variants: 100
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022679
Disease: Cystic kidney
Cystic kidney
0.210 Biomarker disease BEFREE Cep290(gt/gt) mice die at mid-gestation, and the occasional Cep290(gt/gt) mouse that survives shows hydrocephalus and severely cystic kidneys. 25859007 2015
CUI: C0022679
Disease: Cystic kidney
Cystic kidney
0.210 Biomarker disease MGD