Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553512
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY 		0.700 Biomarker disease GENOMICS_ENGLAND Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years. 27302973 2017
CUI: C3553512
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY 		0.700 CausalMutation disease CLINVAR Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. 28473463 2017
CUI: C3553512
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY 		0.700 Biomarker disease GENOMICS_ENGLAND Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. 28473463 2017
CUI: C3553512
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY 		0.700 Biomarker disease GENOMICS_ENGLAND Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years. 27302973 2017
CUI: C3553512
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY 		0.700 Biomarker disease GENOMICS_ENGLAND LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis. 27057999 2016
CUI: C3553512
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY 		0.700 GermlineCausalMutation disease ORPHANET Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA. 25468195 2015
CUI: C3553512
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY 		0.700 Biomarker disease GENOMICS_ENGLAND Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype. 25479458 2015
CUI: C3553512
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY 		0.700 GermlineCausalMutation disease ORPHANET Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. 22608502 2012
CUI: C3553512
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY 		0.700 Biomarker disease GENOMICS_ENGLAND LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency. 22721650 2012
CUI: C3553512
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY 		0.700 Biomarker disease GENOMICS_ENGLAND Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. 22608502 2012
CUI: C3553512
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY 		0.700 GeneticVariation disease UNIPROT Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. 22608502 2012
CUI: C3553512
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY 		0.700 Biomarker disease CTD_human
CUI: C3553512
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY 		0.700 GeneticVariation disease CLINVAR