CEP63, centrosomal protein 63, 80254

N. diseases: 44; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs6775611
rs6775611
Entrez Id: 2047;80254;339855
Gene Symbol: EPHB1;CEP63;KY
EPHB1;CEP63;KY
CUI: C0042834
Disease:
Vital capacity 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs9851441
rs9851441
Entrez Id: 2047;80254
Gene Symbol: EPHB1;CEP63
EPHB1;CEP63
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1085307110
rs1085307110
Entrez Id: 2047;80254;339855
Gene Symbol: EPHB1;CEP63;KY
EPHB1;CEP63;KY
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary 		CATGTCGATAGATACAGCACATGTCGATA 0.700 CausalMutation CLINVAR Progressive hereditary spastic paraplegia caused by a homozygous KY mutation. 28488683 2017
dbSNP: rs1085307110
rs1085307110
Entrez Id: 2047;80254;339855
Gene Symbol: EPHB1;CEP63;KY
EPHB1;CEP63;KY
CUI: C0037771
Disease:
Paraparesis, Spastic 		CATGTCGATAGATACAGCACATGTCGATA 0.700 CausalMutation CLINVAR Progressive hereditary spastic paraplegia caused by a homozygous KY mutation. 28488683 2017
dbSNP: rs1085307110
rs1085307110
Entrez Id: 2047;80254;339855
Gene Symbol: EPHB1;CEP63;KY
EPHB1;CEP63;KY
CUI: C0037772
Disease:
Spastic Paraplegia 		CATGTCGATAGATACAGCACATGTCGATA 0.700 CausalMutation CLINVAR Progressive hereditary spastic paraplegia caused by a homozygous KY mutation. 28488683 2017
dbSNP: rs6772896
rs6772896
Entrez Id: 25847;80254
Gene Symbol: ANAPC13;CEP63
ANAPC13;CEP63
CUI: C0037369
Disease:
Smoking 		T 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. 28443625 2017
dbSNP: rs6772896
rs6772896
Entrez Id: 25847;80254
Gene Symbol: ANAPC13;CEP63
ANAPC13;CEP63
CUI: C1519383
Disease:
Smoking Behaviors 		T 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. 28443625 2017
dbSNP: rs6772896
rs6772896
Entrez Id: 25847;80254
Gene Symbol: ANAPC13;CEP63
ANAPC13;CEP63
CUI: C4049938
Disease:
Physical Activity Measurement 		T 0.700 GeneticVariation GWASCAT Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. 28448500 2017
dbSNP: rs775009958
rs775009958
Entrez Id: 2047;80254
Gene Symbol: EPHB1;CEP63
EPHB1;CEP63
CUI: C0205682
Disease:
Waist-Hip Ratio 		T 0.700 GeneticVariation GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196 2017
dbSNP: rs1266747910
rs1266747910
Entrez Id: 80254
Gene Symbol: CEP63
CEP63
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination. 26158450 2015
dbSNP: rs1266747910
rs1266747910
Entrez Id: 80254
Gene Symbol: CEP63
CEP63
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405 2015
dbSNP: rs1266747910
rs1266747910
Entrez Id: 80254
Gene Symbol: CEP63
CEP63
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family. 26400686 2015
dbSNP: rs763001827
rs763001827
Entrez Id: 80254
Gene Symbol: CEP63
CEP63
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination. 26158450 2015
dbSNP: rs763001827
rs763001827
Entrez Id: 80254
Gene Symbol: CEP63
CEP63
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family. 26400686 2015
dbSNP: rs763001827
rs763001827
Entrez Id: 80254
Gene Symbol: CEP63
CEP63
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405 2015
dbSNP: rs1266747910
rs1266747910
Entrez Id: 80254
Gene Symbol: CEP63
CEP63
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Genetic heterogeneity in Pakistani microcephaly families. 22775483 2013
dbSNP: rs1266747910
rs1266747910
Entrez Id: 80254
Gene Symbol: CEP63
CEP63
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Cep63 and cep152 cooperate to ensure centriole duplication. 23936128 2013
dbSNP: rs763001827
rs763001827
Entrez Id: 80254
Gene Symbol: CEP63
CEP63
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Genetic heterogeneity in Pakistani microcephaly families. 22775483 2013
dbSNP: rs763001827
rs763001827
Entrez Id: 80254
Gene Symbol: CEP63
CEP63
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Cep63 and cep152 cooperate to ensure centriole duplication. 23936128 2013
dbSNP: rs1266747910
rs1266747910
Entrez Id: 80254
Gene Symbol: CEP63
CEP63
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR A primary microcephaly protein complex forms a ring around parental centrioles. 21983783 2011
dbSNP: rs1266747910
rs1266747910
Entrez Id: 80254
Gene Symbol: CEP63
CEP63
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Cep63 recruits Cdk1 to the centrosome: implications for regulation of mitotic entry, centrosome amplification, and genome maintenance. 21406398 2011
dbSNP: rs746387482
rs746387482
Entrez Id: 80254
Gene Symbol: CEP63
CEP63
CUI: C3553582
Disease:
SECKEL SYNDROME 6 		CTTAA 0.700 GeneticVariation CLINVAR A primary microcephaly protein complex forms a ring around parental centrioles. 21983783 2011
dbSNP: rs763001827
rs763001827
Entrez Id: 80254
Gene Symbol: CEP63
CEP63
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR A primary microcephaly protein complex forms a ring around parental centrioles. 21983783 2011
dbSNP: rs763001827
rs763001827
Entrez Id: 80254
Gene Symbol: CEP63
CEP63
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Cep63 recruits Cdk1 to the centrosome: implications for regulation of mitotic entry, centrosome amplification, and genome maintenance. 21406398 2011
dbSNP: rs1266747910
rs1266747910
Entrez Id: 80254
Gene Symbol: CEP63
CEP63
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. 20598275 2010