CENPE, centromere protein E, 1062

N. diseases: 78; N. variants: 5
Disease: Seckel syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.510 GeneticVariation disease BEFREE Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. 24748105 2014
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.510 GermlineCausalMutation disease ORPHANET Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. 24748105 2014
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.510 Biomarker disease GENOMICS_ENGLAND