Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748212
Disease: IMMUNODEFICIENCY 57
IMMUNODEFICIENCY 57
0.400 Biomarker disease GENOMICS_ENGLAND Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation. 30026316 2018
CUI: C4748212
Disease: IMMUNODEFICIENCY 57
IMMUNODEFICIENCY 57
0.400 GeneticVariation disease CLINVAR