Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0749379
Disease: Thoracolumbar scoliosis
Thoracolumbar scoliosis 		0.100 GeneticVariation CLINVAR First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy. 9452087

1998