Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures
0.110 GeneticVariation phenotype BEFREE Recently, two research groups reported that mutations in RMND1 were associated with encephalopathy, elevated lactate, hypotonia, and in some patients seizures or myoclonia in individuals from two consanguineous families. 26395190 2016
CUI: C0036572
Disease: Seizures
Seizures
0.110 Biomarker phenotype HPO