RAG1, recombination activating 1, 5896

N. diseases: 209; N. variants: 59
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		0.800 GermlineCausalMutation disease ORPHANET
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.700 Biomarker disease HPO
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.700 GeneticVariation disease CLINVAR
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1832322
Disease: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive 		0.700 Biomarker disease CTD_human
CUI: C1832322
Disease: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1835931
Disease: ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY
ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY 		0.700 GeneticVariation disease CLINVAR
CUI: C1835931
Disease: ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY
ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY 		0.700 GermlineCausalMutation disease ORPHANET
CUI: C1835931
Disease: ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY
ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1835931
Disease: ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY
ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY 		0.700 CausalMutation disease CLINVAR
CUI: C1835931
Disease: ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY
ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY 		0.700 Biomarker disease CTD_human
CUI: C2673536
Disease: Combined Cellular And Humoral Immune Defects With Granulomas
Combined Cellular And Humoral Immune Defects With Granulomas 		0.700 Biomarker disease CTD_human
CUI: C2673536
Disease: Combined Cellular And Humoral Immune Defects With Granulomas
Combined Cellular And Humoral Immune Defects With Granulomas 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1867362
Disease: SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE
SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C1867362
Disease: SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE
SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE 		0.400 CausalMutation disease CLINVAR
CUI: C2931884
Disease: Reticuloendotheliosis, familial, with eosinophilia
Reticuloendotheliosis, familial, with eosinophilia 		0.300 Biomarker disease CTD_human
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		0.200 GeneticVariation group CLINVAR
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.150 Biomarker disease HPO
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.130 Biomarker group HPO
CUI: C0243026
Disease: Sepsis
Sepsis 		0.120 Biomarker disease HPO
CUI: C0011606
Disease: Exfoliative dermatitis
Exfoliative dermatitis 		0.110 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.110 Biomarker disease HPO
CUI: C0032285
Disease: Pneumonia
Pneumonia 		0.110 Biomarker disease HPO
CUI: C0401151
Disease: Chronic diarrhea
Chronic diarrhea 		0.110 Biomarker disease HPO
CUI: C0002170
Disease: Alopecia
Alopecia 		0.100 Biomarker disease HPO