Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1838604
Disease: EPILEPSY, CHILDHOOD ABSENCE, 1
EPILEPSY, CHILDHOOD ABSENCE, 1
0.300 GeneticVariation disease ORPHANET A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. 16718694 2006