Disease: Wolf-Hirschhorn Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1956097
Disease: Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn Syndrome 		0.900 Biomarker disease MGD Whsc1-deficient mice showed growth retardation and various WHS-like midline defects, including congenital cardiovascular anomalies. 19483677 2009
CUI: C1956097
Disease: Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn Syndrome 		0.900 Biomarker disease BEFREE The microduplication did not involve WHSC1 and WHSC2 which are considered in the critical region for WHS and trisomy 4p. 21815251 2011
CUI: C1956097
Disease: Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn Syndrome 		0.900 Biomarker disease BEFREE The nature of the protein motifs, the expression pattern and its mapping to the critical region led us to propose WHSC1 as a good candidate gene to be responsible for many of the phenotypic features of WHS. 9618163 1998
CUI: C1956097
Disease: Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn Syndrome 		0.900 Biomarker disease BEFREE The WHS critical region (WHSCR) has been narrowed down and NSD2 falls within this 200 kb region. 31382906 2019