CENPJ, centromere protein J, 55835

N. diseases: 150; N. variants: 24
Disease: Microcephaly, Primary Autosomal Recessive, 6 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434311
rs121434311
Entrez Id: 55835;56163
Gene Symbol: CENPJ;RNF17
CENPJ;RNF17
CUI: C1842109
Disease:
Microcephaly, Primary Autosomal Recessive, 6 		0.800 GeneticVariation UNIPROT The human microcephaly protein STIL interacts with CPAP and is required for procentriole formation. 22020124 2011
dbSNP: rs121434311
rs121434311
Entrez Id: 55835;56163
Gene Symbol: CENPJ;RNF17
CENPJ;RNF17
CUI: C1842109
Disease:
Microcephaly, Primary Autosomal Recessive, 6 		0.800 GeneticVariation UNIPROT A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. 15793586 2005
dbSNP: rs121434311
rs121434311
Entrez Id: 55835;56163
Gene Symbol: CENPJ;RNF17
CENPJ;RNF17
CUI: C1842109
Disease:
Microcephaly, Primary Autosomal Recessive, 6 		A 0.800 CausalMutation CLINVAR