COPB2, COPI coat complex subunit beta 2, 9276

N. diseases: 59; N. variants: 1
Disease: Microcephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.310 GeneticVariation disease BEFREE Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly. 29036432 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.310 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.310 Biomarker disease MGD