Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency
0.120 GeneticVariation disease BEFREE She was clinically diagnosed with typical CHARGE syndrome with severe combined immunodeficiency (T-, B+, NK-); however, CHD7 mutation was not detected. 27875026 2017
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency
0.120 GeneticVariation disease BEFREE We describe four patients with mutations in CHD7, who had clinical features of CHARGE syndrome and who had T-B + NK + SCID (two patients) or clinical features consistent with Omenn syndrome (two patients). 18505430 2008
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency
0.120 GeneticVariation disease LHGDN Immunodeficiency in patients with DiGeorge syndrome is well recognized--CHARGE syndrome should now be added to the causes of T-B + NK + SCID, and mutations in the CHD7 gene may be associated with Omenn-like syndrome. 18505430 2008
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency
0.120 Biomarker disease HPO