CEP83, centrosomal protein 83, 51134

N. diseases: 15; N. variants: 15
Disease: NEPHRONOPHTHISIS 18 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3890591
Disease: NEPHRONOPHTHISIS 18
NEPHRONOPHTHISIS 18 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. 24882706 2014
CUI: C3890591
Disease: NEPHRONOPHTHISIS 18
NEPHRONOPHTHISIS 18 		0.700 GeneticVariation disease UNIPROT Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. 24882706 2014
CUI: C3890591
Disease: NEPHRONOPHTHISIS 18
NEPHRONOPHTHISIS 18 		0.700 CausalMutation disease CLINVAR
CUI: C3890591
Disease: NEPHRONOPHTHISIS 18
NEPHRONOPHTHISIS 18 		0.700 Biomarker disease CTD_human
CUI: C3890591
Disease: NEPHRONOPHTHISIS 18
NEPHRONOPHTHISIS 18 		0.700 Biomarker disease GENOMICS_ENGLAND