CENPE, centromere protein E, 1062

N. diseases: 78; N. variants: 5
Disease: Microcephalic Osteodysplastic Primordial Dwarfism, Type II ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432246
Disease: Microcephalic Osteodysplastic Primordial Dwarfism, Type II
Microcephalic Osteodysplastic Primordial Dwarfism, Type II 		0.010 Biomarker disease BEFREE Our cellular analysis shows that a pathogenic defect in CENP-E, a kinetochore-core protein, largely phenocopies PCNT-mutated microcephalic osteodysplastic primordial dwarfism-type II patient cells. 24748105 2014