Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310646
Disease: LISSENCEPHALY 8
LISSENCEPHALY 8
0.600 GeneticVariation disease UNIPROT Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly. 27773428 2016
CUI: C4310646
Disease: LISSENCEPHALY 8
LISSENCEPHALY 8
0.600 CausalMutation disease CLINVAR
CUI: C4310646
Disease: LISSENCEPHALY 8
LISSENCEPHALY 8
0.600 Biomarker disease GENOMICS_ENGLAND