CEP83, centrosomal protein 83, 51134

N. diseases: 15; N. variants: 15
Disease: NEPHRONOPHTHISIS 18 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777487
rs587777487
Entrez Id: 51134
Gene Symbol: CEP83
CEP83
CUI: C3890591
Disease:
NEPHRONOPHTHISIS 18 		0.800 GeneticVariation UNIPROT Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. 24882706 2014
dbSNP: rs587777487
rs587777487
Entrez Id: 51134
Gene Symbol: CEP83
CEP83
CUI: C3890591
Disease:
NEPHRONOPHTHISIS 18 		G 0.800 CausalMutation CLINVAR