COPB2, COPI coat complex subunit beta 2, 9276

N. diseases: 59; N. variants: 1
Disease: Autosomal Recessive Primary Microcephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.300 GermlineCausalMutation disease ORPHANET Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly. 29036432 2017