Disease: CHARGE Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.220 Biomarker disease BEFREE The deletion encompasses only 2 genes: CHD2, which is part of a gene family already involved in CHARGE syndrome, and RGMA which exerts a negative control on axon growth. 22178256 2012
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.220 Biomarker disease MGD These data suggest that haploinsufficiency for CHD2 could result in a complex of abnormal human phenotypes that includes scoliosis and possibly features similar to CHARGE syndrome. 18386809 2008
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.220 Biomarker disease BEFREE These data suggest that haploinsufficiency for CHD2 could result in a complex of abnormal human phenotypes that includes scoliosis and possibly features similar to CHARGE syndrome. 18386809 2008