Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 92667
Gene Symbol: MGME1
MGME1
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia. 28711739

2017