Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome
0.010 AlteredExpression disease BEFREE In addition, preliminary studies using antisense expression indicate that down-regulation of either Rab7 or Rab9 proteins induces severe cell vacuolation that resembles the phenotype seen in fibroblasts from patients with Chediak-Higashi syndrome. 9126495 1997