CEP55, centrosomal protein 55, 55165

N. diseases: 134; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10748604
rs10748604
Entrez Id: 55165
Gene Symbol: CEP55
CEP55
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs201430235
rs201430235
Entrez Id: 55165
Gene Symbol: CEP55
CEP55
CUI: C1856053
Disease:
Hydranencephaly with Renal Aplasia-Dysplasia 		A 0.700 CausalMutation CLINVAR A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis. 28264986 2017
dbSNP: rs1169095680
rs1169095680
Entrez Id: 55165
Gene Symbol: CEP55
CEP55
CUI: C1856053
Disease:
Hydranencephaly with Renal Aplasia-Dysplasia 		GA 0.700 CausalMutation CLINVAR
dbSNP: rs141458677
rs141458677
Entrez Id: 55165
Gene Symbol: CEP55
CEP55
CUI: C1856053
Disease:
Hydranencephaly with Renal Aplasia-Dysplasia 		T 0.700 CausalMutation CLINVAR