Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84879
Gene Symbol: MFSD2A
MFSD2A
0.300 Biomarker phenotype CTD_human A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. 26005865 2015
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
0.300 Biomarker phenotype CTD_human GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. 23933820 2013
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
0.300 Biomarker phenotype CTD_human Ataxia caused by mutations in the alpha-tocopherol transfer protein gene. 10896705 2000