Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
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