CENPE, centromere protein E, 1062

N. diseases: 78; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2720460
rs2720460
Entrez Id: 1062
Gene Symbol: CENPE
CENPE
CUI: C1336708
Disease:
Testicular Germ Cell Tumor 		G 0.800 GeneticVariation GWASCAT Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor. 28604732 2017
dbSNP: rs2720460
rs2720460
Entrez Id: 1062
Gene Symbol: CENPE
CENPE
CUI: C1336708
Disease:
Testicular Germ Cell Tumor 		A 0.800 GeneticVariation GWASCAT Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor. 28604728 2017
dbSNP: rs2720460
rs2720460
Entrez Id: 1062
Gene Symbol: CENPE
CENPE
CUI: C1336708
Disease:
Testicular Germ Cell Tumor 		A 0.800 GeneticVariation GWASCAT Two new loci and gene sets related to sex determination and cancer progression are associated with susceptibility to testicular germ cell tumor. 25877299 2015
dbSNP: rs141488085
rs141488085
Entrez Id: 1062
Gene Symbol: CENPE
CENPE
CUI: C4015080
Disease:
MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. 24748105 2014
dbSNP: rs144716013
rs144716013
Entrez Id: 1062
Gene Symbol: CENPE
CENPE
CUI: C4015080
Disease:
MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. 24748105 2014
dbSNP: rs2720460
rs2720460
Entrez Id: 1062
Gene Symbol: CENPE
CENPE
CUI: C1336708
Disease:
Testicular Germ Cell Tumor 		A 0.800 GeneticVariation GWASDB Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. 23666240 2013
dbSNP: rs141488085
rs141488085
Entrez Id: 1062
Gene Symbol: CENPE
CENPE
CUI: C4015080
Disease:
MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE 		C 0.800 CausalMutation CLINVAR
dbSNP: rs144716013
rs144716013
Entrez Id: 1062
Gene Symbol: CENPE
CENPE
CUI: C4015080
Disease:
MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE 		T 0.800 GeneticVariation CLINVAR
dbSNP: rs144716013
rs144716013
Entrez Id: 1062
Gene Symbol: CENPE
CENPE
CUI: C4015080
Disease:
MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE 		T 0.800 CausalMutation CLINVAR
dbSNP: rs13114629
rs13114629
Entrez Id: 1062
Gene Symbol: CENPE
CENPE
CUI: C0021704
Disease:
Intelligence 		0.700 GeneticVariation GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
dbSNP: rs2720460
rs2720460
Entrez Id: 1062
Gene Symbol: CENPE
CENPE
CUI: C0039590
Disease:
Testicular Neoplasms 		A 0.700 GeneticVariation GWASCAT Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. 23666240 2013
dbSNP: rs111853599
rs111853599
Entrez Id: 1062
Gene Symbol: CENPE
CENPE
CUI: C0006826
Disease:
Malignant Neoplasms 		0.010 GeneticVariation BEFREE Y63H point mutation found to be associated with cancer using SIFT, Polyphen, PhD-SNP, MutPred, CanPredict and Dr. Cancer tools. 22974711 2013
dbSNP: rs111853599
rs111853599
Entrez Id: 1062
Gene Symbol: CENPE
CENPE
CUI: C1306459
Disease:
Primary malignant neoplasm 		0.010 GeneticVariation BEFREE Y63H point mutation found to be associated with cancer using SIFT, Polyphen, PhD-SNP, MutPred, CanPredict and Dr. Cancer tools. 22974711 2013