Disease: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310653
Disease: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME
LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME 		0.700 GeneticVariation disease UNIPROT Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. 27427983 2016
CUI: C4310653
Disease: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME
LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME 		0.700 Biomarker disease GENOMICS_ENGLAND Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. 27427983 2016
CUI: C4310653
Disease: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME
LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME 		0.700 CausalMutation disease CLINVAR
CUI: C4310653
Disease: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME
LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME 		0.700 Biomarker disease CTD_human