Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1956097
Disease: Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn Syndrome
0.030 Biomarker disease BEFREE Case subjects with der(4) have the Wolf-Hirschhorn syndrome, whereas case subjects with der(8) show a milder spectrum of dysmorphic features. 12058347 2002
CUI: C1956097
Disease: Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn Syndrome
0.030 GeneticVariation disease BEFREE The t(4;14) translocation occurs frequently in multiple myeloma (MM) and results in the simultaneous dysregulated expression of 2 potential oncogenes, FGFR3 (fibroblast growth factor receptor 3) from der(14) and multiple myeloma SET domain protein/Wolf-Hirschhorn syndrome candidate gene 1 from der(4). 11157491 2001
CUI: C1956097
Disease: Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn Syndrome
0.030 GeneticVariation disease BEFREE These chromosome rearrangements include a marker derived from chromosome 3(cen-q11), an interstitial deletion of chromosome 13 [del(13)(q14q22)], an unbalanced translocation [46,XY, -4, +der(4)t(4;8)(p 15.2;p21.1)] leading to Wolf-Hirschhorn syndrome, and a partial inverted duplication in conjunction with a partial deletion of chromosome 5p [46,XX, -5, +der(5)(:p13-p15.1::p15.1-qter)] which is responsible for the manifestation of the cri-du-chat syndrome. 8938060 1997