Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554686
Disease: IMMUNODEFICIENCY 11
IMMUNODEFICIENCY 11
0.700 Biomarker disease GENOMICS_ENGLAND Germline CARD11 Mutation in a Patient with Severe Congenital B Cell Lymphocytosis. 25352053 2015
CUI: C3554686
Disease: IMMUNODEFICIENCY 11
IMMUNODEFICIENCY 11
0.700 GermlineCausalMutation disease ORPHANET Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency. 23561803 2013
CUI: C3554686
Disease: IMMUNODEFICIENCY 11
IMMUNODEFICIENCY 11
0.700 GermlineCausalMutation disease ORPHANET Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects. 23374270 2013
CUI: C3554686
Disease: IMMUNODEFICIENCY 11
IMMUNODEFICIENCY 11
0.700 CausalMutation disease CLINVAR
CUI: C3554686
Disease: IMMUNODEFICIENCY 11
IMMUNODEFICIENCY 11
0.700 GeneticVariation disease CLINVAR
CUI: C3554686
Disease: IMMUNODEFICIENCY 11
IMMUNODEFICIENCY 11
0.700 Biomarker disease CTD_human