Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2673700
Disease: Brisk reflexes
Brisk reflexes
0.100 GeneticVariation phenotype CLINVAR First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy. 9452087 1998