CENPE, centromere protein E, 1062

N. diseases: 78; N. variants: 5
Disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4015080
Disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease UNIPROT Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. 24748105 2014
CUI: C4015080
Disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 CausalMutation disease CLINVAR
CUI: C4015080
Disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease CTD_human
CUI: C4015080
Disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4015080
Disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease CLINVAR