Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
PERIVENTRICULAR NODULAR HETEROTOPIA 8
0.400 GeneticVariation disease UNIPROT Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation. 28868155 2016
PERIVENTRICULAR NODULAR HETEROTOPIA 8
0.400 CausalMutation disease CLINVAR