Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly
0.300 Biomarker disease CTD_human A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. 26005865 2015
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly
0.300 Biomarker disease CTD_human Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome. 26005868 2015