Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment
0.300 Biomarker phenotype GENOMICS_ENGLAND Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment. 30929742 2019