RAG2 (recombination activating 2)

Gene

• Entrez ID: 5897
• Gene name: Recombination activating 2
• Gene symbol: RAG2
• Synonyms (NCBI Gene): RAG-2
• Chromosome: 11
• Chromosome location: 11p12
• Summary: This gene encodes a protein that is involved in the initiation of V(D)J recombination during B and T cell development. This protein forms a complex with the product of the adjacent recombination activating gene 1, and this complex can form double-strand b

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1288430	hsa-miR-142-5p	CLIP-seq
MIRT1288431	hsa-miR-154	CLIP-seq
MIRT1288432	hsa-miR-186	CLIP-seq
MIRT1288433	hsa-miR-299-3p	CLIP-seq
MIRT1288434	hsa-miR-3133	CLIP-seq
MIRT1288435	hsa-miR-3185	CLIP-seq
MIRT1288436	hsa-miR-340	CLIP-seq
MIRT1288437	hsa-miR-383	CLIP-seq
MIRT1288438	hsa-miR-410	CLIP-seq
MIRT1288439	hsa-miR-4276	CLIP-seq
MIRT1288440	hsa-miR-4648	CLIP-seq
MIRT1288441	hsa-miR-4654	CLIP-seq
MIRT1288442	hsa-miR-4769-5p	CLIP-seq
MIRT2085492	hsa-miR-1225-5p	CLIP-seq
MIRT2085493	hsa-miR-4314	CLIP-seq
MIRT2085494	hsa-miR-4455	CLIP-seq
MIRT2085495	hsa-miR-4477b	CLIP-seq
MIRT2085496	hsa-miR-496	CLIP-seq
MIRT2085497	hsa-miR-555	CLIP-seq
MIRT2085498	hsa-miR-609	CLIP-seq
MIRT1288436	hsa-miR-340	CLIP-seq
MIRT2607216	hsa-miR-513a-3p	CLIP-seq
MIRT2607216	hsa-miR-513a-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HMGA1	Unknown	15713121
LEF1	Unknown	12244173
MYB	Unknown	12044781
PAX5	Unknown	11094072;12044781

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002313	Process	Mature B cell differentiation involved in immune response	IEA
GO:0002326	Process	B cell lineage commitment	IEA
GO:0002331	Process	Pre-B cell allelic exclusion	IEA
GO:0002331	Process	Pre-B cell allelic exclusion	ISS
GO:0002358	Process	B cell homeostatic proliferation	IEA
GO:0002360	Process	T cell lineage commitment	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003682	Function	Chromatin binding	ISS
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IEA
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	ISS
GO:0005547	Function	Phosphatidylinositol-3,4,5-trisphosphate binding	IEA
GO:0005547	Function	Phosphatidylinositol-3,4,5-trisphosphate binding	ISS
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006310	Process	DNA recombination	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	ISS
GO:0030183	Process	B cell differentiation	IEA
GO:0030183	Process	B cell differentiation	ISS
GO:0030217	Process	T cell differentiation	IEA
GO:0033077	Process	T cell differentiation in thymus	IEA
GO:0033077	Process	T cell differentiation in thymus	ISS
GO:0033085	Process	Negative regulation of T cell differentiation in thymus	IEA
GO:0033151	Process	V(D)J recombination	IBA
GO:0033151	Process	V(D)J recombination	IEA
GO:0033151	Process	V(D)J recombination	ISS
GO:0035091	Function	Phosphatidylinositol binding	IEA
GO:0035091	Function	Phosphatidylinositol binding	ISS
GO:0035265	Process	Organ growth	IEA
GO:0042742	Process	Defense response to bacterium	IEA
GO:0043325	Function	Phosphatidylinositol-3,4-bisphosphate binding	IEA
GO:0043325	Function	Phosphatidylinositol-3,4-bisphosphate binding	ISS
GO:0043565	Function	Sequence-specific DNA binding	IBA
GO:0046622	Process	Positive regulation of organ growth	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0080025	Function	Phosphatidylinositol-3,5-bisphosphate binding	IEA
GO:0080025	Function	Phosphatidylinositol-3,5-bisphosphate binding	ISS
GO:0097519	Component	DNA recombinase complex	IBA
GO:0140002	Function	Histone H3K4me3 reader activity	IEA
GO:0140002	Function	Histone H3K4me3 reader activity	ISS
GO:1904155	Process	DN2 thymocyte differentiation	IEA

Other IDs

• MIM: 179616
• HGNC: 9832
• e!Ensembl: ENSG00000175097

Protein

• UniProt ID: P55895
• Protein name: V(D)J recombination-activating protein 2 (RAG-2)
• Protein function: Core component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase during V(D)J recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T-cell receptor genes in developing B and T-lymph
• PDB: 8T4R
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03089	RAG2	51 → 389	Recombination activating protein 2	Family
  PF13341	RAG2_PHD	414 → 491	RAG2 PHD domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Cells of the B- and T-lymphocyte lineages.
• Sequence:

  MSLQMVTVSNNIALIQPGFSLMNFDGQVFFFGQKGWPKRSCPTGVFHLDVKHNHVKLKPT
  IFSKDSCYLPPLRYPATCTFKGSLESEKHQYIIHGGKTPNNEVSDKIYVMSIVCKNNKKV
  TFRCTEKDLVGDVPEARYGHSINVVYSRGKSMGVLFGGRSYMPSTHRTTEKWNSVADCLP
  CVFLVDFEFGCATSYILPELQDGLSFHVSIAKNDTIYILGGHSLANNIRPANLYRIRVDL
  PLGSPAVNCTVLPGGISVSSAILTQTNNDEFVIVGGYQLENQKRMICNIISLEDNKIEIR
  EMETPDWTPDIKHSKIWFGSNMGNGTVFLGIPGDNKQVVSEGFYFYMLKCAEDDTNEEQT
  TFTNSQTSTEDPGDSTPFEDSEEFCFSAEANSFDGDDEFDTYNEDDEEDESETGYWITCC
  PTCDVDINTWVPFYSTELNKPAMIYCSHGDGHWVHAQCMDLAERTLIHLSAGSNKYYCNE
  HVEIARALHTPQRVLPLKKPPMKSLRKKGSGKILTPAKKSFLRRLFD

• Sequence length: 527

Pathways

KEGG:

FoxO signaling pathway
Primary immunodeficiency

Reactome:

MAPK6/MAPK4 signaling

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency	Likely pathogenic; Pathogenic	rs1064793251, rs148508754, rs193922573, rs1204766339	RCV000681583 RCV000681571 RCV000681592 RCV000681600	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Combined immunodeficiency with skin granulomas	Pathogenic; Likely pathogenic	rs1851074701, rs121917894, rs1406618487, rs2133312873, rs2133311139, rs1470797202, rs2133313100, rs1851074524, rs2133313784, rs1315729938, rs764485070, rs1440633758, rs2133316487, rs2133313716, rs370666759, rs2133314424, rs755941834, rs756676209, rs754975137, rs2133314621, rs2133313582, rs1564997121, rs2133312509, rs1342428152, rs1851081720, rs756192655, rs1224542443, rs786205616, rs2494799758, rs2494801025, rs2494794434, rs2494786655, rs2494791063, rs2494787994, rs2494788127, rs2494799074, rs193922574, rs121917895, rs36001797, rs121918574, rs121918575, rs750849852, rs2494791806, rs2494799242, rs2494795418, rs1174918583, rs1397294905, rs2494788679, rs756694972, rs1336686317, rs2494799990, rs2494789497, rs1434109608, rs746734641, rs762054841, rs2494791448, rs1564995465, rs2494790291, rs2494797251, rs773710101, rs2494788285, rs2494798134, rs2494793071, rs2494792018, rs2494800686, rs2494791825, rs2494794279, rs2494800701, rs1064793250, rs909264507, rs148508754, rs193922572, rs193922573, rs748727021, rs1204766339, rs1564995627, rs765298019, rs1564997563, rs879541124, rs768567592, rs1590713653, rs147155709, rs1335036396, rs1851096223, rs1851098227, rs1434362838, rs1164927451, rs1851062418, rs1851080959	RCV001313623 RCV001331314 RCV001379226 RCV001379080 RCV001381106 RCV001389164 RCV001389866 RCV001389166 RCV001380349 RCV001386499 RCV001869833 RCV001943182 RCV001872560 RCV001998712 RCV001950680 RCV002002843 RCV001949224 RCV001953825 RCV002022809 RCV001999973 RCV002040484 RCV001957944 RCV001950972 RCV002030270 RCV001982896 RCV001963293 RCV002043766 RCV003061066 RCV003058303 RCV001852070 RCV002577362 RCV002847102 RCV002851216 RCV002835369 RCV002894152 RCV002866079 RCV002898572 RCV003013237 RCV003031080 RCV001049147 RCV001851843 RCV001043887 RCV000014019 RCV000014020 RCV003472565 RCV003472566 RCV003472567 RCV003463446 RCV003463447 RCV003463448 RCV003463449 RCV003471783 RCV003463450 RCV003785398 RCV003790464 RCV003786917 RCV003791901 RCV003793654 RCV003801195 RCV003796928 RCV003794767 RCV003809722 RCV003810005 RCV003815428 RCV003815564 RCV003807527 RCV004574683 RCV004574684 RCV004574685 RCV004574686 RCV004574687 RCV004574688 RCV004574689 RCV001865427 RCV002496885 RCV005042098 RCV001389165 RCV005042099 RCV001059752 RCV000547792 RCV000681600 RCV001389163 RCV001042148 RCV000681575 RCV001219165 RCV001220628 RCV000645685 RCV000806149 RCV005225063 RCV001046638 RCV001041863 RCV001063030 RCV003473774 RCV001224669 RCV001205818 RCV001203140	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Common variable immunodeficiency	Pathogenic	rs121918575, rs1590715754	RCV001027616 RCV001027617	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Histiocytic medullary reticulosis	Pathogenic; Likely pathogenic	rs1851074524, rs1315729938, rs764485070, rs2494794434, rs121917894, rs121917895, rs121917896, rs36001797, rs121917897, rs121918575, rs750849852, rs2494788679, rs756694972, rs909264507, rs148508754, rs193922572, rs193922573, rs193922574, rs748727021, rs1204766339, rs1564995611, rs1564995627, rs1564995662, rs773710101, rs754413772, rs765298019, rs1564997121, rs768567592, rs1590713653, rs147155709, rs1335036396, rs1434362838	RCV002499812 RCV001826170 RCV002503333 RCV005045007 RCV000014011 RCV000014012 RCV000014013 RCV000014014 RCV000014018 RCV005042040 RCV005047611 RCV005047612 RCV005047613 RCV002496885 RCV005042098 RCV000030396 RCV005042099 RCV001831615 RCV001834778 RCV000681600 RCV000681599 RCV000681598 RCV001331311 RCV000681594 RCV000681593 RCV000681587 RCV000681581 RCV000681572 RCV001835894 RCV001104242 RCV005610823 RCV001832439 RCV002491690	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inborn error of immunity	Pathogenic; Likely pathogenic	rs121917894, rs121917895, rs121917896, rs121917897, rs121918574, rs121918575, rs1064793251, rs909264507, rs148508754, rs193922572, rs193922573, rs1204766339, rs1564995611, rs1564995627, rs1564995660, rs1564995662, rs773710101, rs754413772, rs765298019, rs1479328926, rs1564997121, rs1564997563	RCV000681586 RCV000681574 RCV000681589 RCV000681573 RCV000681578 RCV000681597 RCV000681583 RCV000681576 RCV000681571 RCV000681591 RCV000681592 RCV000681600 RCV000681599 RCV000681598 RCV000681596 RCV000681595 RCV000681594 RCV000681593 RCV000681587 RCV000681584 RCV000681581 RCV000681575 RCV000681572	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RAG2-related disorder	Pathogenic; Likely pathogenic	rs148508754, rs193922572	RCV004755751 RCV003407371 RCV003420026	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Recombinase activating gene 2 deficiency	Pathogenic; Likely pathogenic	rs1851074524, rs1440633758, rs754975137, rs2494801025, rs121917894, rs121917895, rs121917896, rs36001797, rs121917897, rs121918574, rs121918575, rs1064793251, rs909264507, rs148508754, rs193922572, rs193922573, rs193922574, rs1204766339, rs1564995611, rs1564995627, rs1564995660, rs1564995662, rs773710101, rs754413772, rs765298019, rs1479328926, rs1564997121, rs1564997563, rs879541124, rs1590713653, rs1164927451	RCV003399209 RCV003401875 RCV005635371 RCV003991484 RCV000681586 RCV000681574 RCV000681589 RCV003398500 RCV000681573 RCV000681578 RCV000681597 RCV000681583 RCV000681576 RCV000681571 RCV000681591 RCV000681592 RCV003325303 RCV000681600 RCV000681599 RCV000681598 RCV000681596 RCV003991476 RCV000681594 RCV000681593 RCV000681587 RCV000681584 RCV000681581 RCV000681575 RCV000681572 RCV003403398 RCV003492174 RCV005633963	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe combined immunodeficiency disease	Likely pathogenic; Pathogenic	rs764485070, rs1224542443, rs121917896, rs121918575, rs1064793250, rs909264507, rs148508754, rs193922574, rs1590713653, rs1335036396	RCV005432805 RCV006262341 RCV005237374 RCV001731284 RCV005431692 RCV003226307 RCV000030395 RCV001731320 RCV005056255 RCV005902013 RCV005912480	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	Pathogenic; Likely pathogenic	rs1851074701, rs121917894, rs1406618487, rs2133312873, rs2133311139, rs1470797202, rs2133313100, rs1851074524, rs2133313784, rs1315729938, rs2133315462, rs764485070, rs1440633758, rs2133316487, rs2133313716, rs370666759, rs2133314424, rs755941834, rs756676209, rs754975137, rs2133314621, rs2133313582, rs1564997121, rs2133312509, rs1342428152, rs1851081720, rs756192655, rs1224542443, rs786205616, rs2494799758, rs2494801025, rs2494794434, rs2494786655, rs2494791063, rs2494787994, rs2494788127, rs2494799074, rs193922574, rs121917895, rs36001797, rs121917897, rs121918575, rs750849852, rs2494791806, rs2494795418, rs2494788679, rs756694972, rs2494799990, rs2494789497, rs1434109608, rs746734641, rs762054841, rs2494791448, rs1564995465, rs2494790291, rs2494797251, rs773710101, rs2494788285, rs2494798134, rs1064793250, rs909264507, rs148508754, rs193922572, rs193922573, rs748727021, rs1204766339, rs1564995627, rs1564995660, rs765298019, rs879541124, rs768567592, rs1590713653, rs147155709, rs1335036396, rs1851096223, rs1851098227, rs1434362838, rs1164927451, rs1851062418, rs1851080959	RCV001313623 RCV003227962 RCV001379226 RCV001379080 RCV001381106 RCV001389164 RCV001389866 RCV001389166 RCV001380349 RCV001386499 RCV001580771 RCV001824243 RCV001943182 RCV001872560 RCV001998712 RCV001950680 RCV002002843 RCV001949224 RCV001953825 RCV002022809 RCV001999973 RCV002040484 RCV001957944 RCV001950972 RCV002030270 RCV001982896 RCV001963293 RCV002043766 RCV003061066 RCV003058303 RCV001852070 RCV002577362 RCV002847102 RCV002851216 RCV002835369 RCV002894152 RCV002866079 RCV002898572 RCV003013237 RCV003031080 RCV000681586 RCV000681574 RCV001043887 RCV000681573 RCV000821298 RCV005047611 RCV003779085 RCV003779086 RCV005047612 RCV005047613 RCV003785398 RCV003790464 RCV003786917 RCV003791901 RCV003793654 RCV003801195 RCV003796928 RCV003794767 RCV003809722 RCV003810005 RCV003815428 RCV003815564 RCV003807527 RCV001865427 RCV000681576 RCV005042098 RCV001389165 RCV005042099 RCV001059752 RCV000547792 RCV001378887 RCV001389163 RCV002283492 RCV000681587 RCV000681572 RCV001220628 RCV000645685 RCV000806149 RCV005225063 RCV001046638 RCV001041863 RCV001063030 RCV001220928 RCV001224669 RCV001205818 RCV001203140	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe combined immunodeficiency, B cell-negative	Pathogenic; Likely pathogenic	rs121917894, rs2133313409, rs121917897, rs1564995662	RCV000014010 RCV000014015 RCV000014017 RCV004527390	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ARTHRITIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED IMMUNODEFICIENCY WITH GRANULOMATOSIS	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EOSINOPHILIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunodeficiency 104	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NON-ALCOHOLIC FATTY LIVER DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONALCOHOLIC STEATOHEPATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OMENN SYNDROME	—	Disgenet, GWAS catalog, HPO, Orphanet Disgenet, GWAS catalog, HPO, Orphanet Disgenet, GWAS catalog, HPO, Orphanet Disgenet, GWAS catalog, HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALLA DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE COMBINED IMMUNODEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE COMBINED IMMUNODEFICIENCY DUE TO COMPLETE RAG1/2 DEFICIENCY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE COMBINED IMMUNODEFICIENCY DUE TO COMPLETE RECOMBINATION-ACTIVATING GENE 1 AND/OR RECOMBINATION-ACTIVATING GENE 2 DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Hypogammaglobulinemia	Common Variable Immunodeficiency	BEFREE	26186701		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	27198500		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	23157682		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	BEFREE	18682256		★☆☆☆☆ Found in Text Mining only
alpha^+^ Thalassemia	alpha Thalassemia	BEFREE	18682256		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	21345177, 24911596, 30692571		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Angioimmunoblastic Lymphadenopathy	Angioimmunoblastic T-cell lymphoma	BEFREE	8518181		★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	23389499		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	29599138		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	16257179		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	19404965	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	20128425	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	1283330		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	29599138		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	19458910, 26515615, 31388879		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	24290284, 26186701, 30307608, 31388879, 34664192	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia	BEFREE	26515615		★☆☆☆☆ Found in Text Mining only
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Marrow Neoplasms	Bone Marrow Neoplasms	BEFREE	19342998		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20199238, 23032975		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	20530793, 21406718		★☆☆☆☆ Found in Text Mining only
Chronic rhinosinusitis with nasal polyps	Rhinosinusitis With Nasal Polyps	BEFREE	23157682		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	12488427, 20706984, 20720211, 21482794, 22520466, 22675442, 23754421, 24500617, 24792912, 24927559, 28198364, 29186109, 31105710		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	19558322		★☆☆☆☆ Found in Text Mining only
Combined Cellular And Humoral Immune Defects With Granulomas	Combined Cellular And Humoral Immune Defects With Granulomas	CLINVAR_DG	10891502, 11133745, 11313270, 15025726, 16111638, 16960852, 17572155, 18033247, 18442948, 18701881, 19458910, 24290284, 25707801, 26186701, 26692406		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Combined Cellular And Humoral Immune Defects With Granulomas	Combined Cellular And Humoral Immune Defects With Granulomas	ORPHANET_DG	18463379		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Combined Cellular And Humoral Immune Defects With Granulomas	Combined Cellular And Humoral Immune Defects With Granulomas	UNIPROT_DG	18463379		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Combined Cellular And Humoral Immune Defects With Granulomas	Combined Cellular And Humoral Immune Defects With Granulomas	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Combined immunodeficiency	Severe combined immunodeficiency disease	BEFREE	10613743, 31058115		★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency with granulomatosis	Combined Cellular And Humoral Immune Defects With Granulomas	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	26186701		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	26186701	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital hypoplasia of thymus	Congenital Hypoplasia Of Thymus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conjunctivitis	Conjunctivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23911681		★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	29267980		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	23192693		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	23192693		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	26470788		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	17476358		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eosinophilia	Eosinophilia	CTD_human_DG	27315767		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eosinophilia	Eosinophilia	Pubtator	31885011, 9630231	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eosinophilia	Eosinophilia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eosinophilia, Tropical	Eosinophilia	CTD_human_DG	27315767		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	21407224		★☆☆☆☆ Found in Text Mining only
Exanthema	Exanthema	Pubtator	31885011	Associate	★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	17000688, 24021673, 29112072		★☆☆☆☆ Found in Text Mining only
Granulomatous Disease Chronic	Granulomatous disease	Pubtator	33954879	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	11313270, 20128425	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	1337849, 1450411		★☆☆☆☆ Found in Text Mining only
Hypogammaglobulinemia	Hypogammaglobulinemia	BEFREE	31058115		★☆☆☆☆ Found in Text Mining only
Hypoproteinemia	Hypoproteinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	31388879	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	10386866, 11283864, 12000715, 16257179, 17657734, 18033247, 18923163, 19041307, 20012395, 20036656, 20089696, 20570860, 20951970, 21135097, 22327211, 22449947, 22569301, 22897578, 23070116, 23382683, 23872144, 23917725, 23975040, 24569833, 24758938, 24911596, 25427612, 25707801, 26013832, 27657746, 28193233, 29397577, 29476695, 30206106, 31138877, 31554700, 9448299		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	23027534, 23754421		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	18682256		★☆☆☆☆ Found in Text Mining only
Intestinal Cancer	Intestinal Cancer	BEFREE	28198364		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	26888021		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	8518181		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	12145704		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	15578097, 17192390, 18684865, 21593192, 24336127		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	34982829	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	17192390, 19342998		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	12115231, 17608810	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	12115231, 17608810		★☆☆☆☆ Found in Text Mining only
Lymphadenitis	Lymphadenitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	11279609, 15578097, 20570860, 25934172		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	9536544		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23032975		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	20553613		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22035283		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17475920, 17511028, 22737248		★☆☆☆☆ Found in Text Mining only
Mastoiditis	Mastoiditis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	25310409		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	20596026		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	18682256		★☆☆☆☆ Found in Text Mining only
Microvascular Angina	Microvascular Angina	BEFREE	18682256		★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	24244446		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	19965677		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	23975040		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16618770, 1832998, 18684865, 21135097, 23821038, 24376772, 25224625, 25427612, 25456735, 26928703, 28499450, 30720218, 7494341		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	BEFREE	25310409		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	CTD_human_DG	24211274		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	21135097		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	CTD_human_DG	24211274		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Omenn Syndrome	Omenn Syndrome	BEFREE	10226883, 11213808, 11313270, 11520796, 15025726, 15870023, 16061569, 16276422, 16630949, 16960852, 17176792, 17476358, 20234091, 20547828, 22723555, 26186701, 26476733, 29241731, 30307608, 30872621		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Omenn Syndrome	Omenn Syndrome	CLINVAR_DG	10891502, 11133745, 11313270, 12200379, 15025726, 16960852, 19470080, 21131235, 21624848, 22841008, 23243423, 25707801, 26186701, 26457731		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Omenn Syndrome	Omenn Syndrome	GENOMICS_ENGLAND_DG	9630231		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Omenn Syndrome	Omenn Syndrome	UNIPROT_DG	9630231		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Omenn Syndrome	Omenn Syndrome	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Omenn syndrome	Omenn Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Otitis Media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	20553613		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	22836854		★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	Pubtator	32926429	Associate	★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	15827121, 21593192		★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	CLINVAR_DG	10891502, 11133745, 11313270, 12200379, 15025726, 16960852, 18463379, 19470080, 21131235, 21624848, 22841008, 23243423, 26457731		★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	28552805		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22035283		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28904861		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23911681		★☆☆☆☆ Found in Text Mining only
Reticuloendotheliosis, familial, with eosinophilia	Reticuloendotheliosis With Eosinophilia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	23821038, 28499450		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	19404965		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	20031388, 22318521		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	10226883, 10777560, 11313270, 11359901, 15025726, 15770702, 15845893, 16061569, 16960852, 19458910, 20128425, 20234091, 20603253, 22295088, 22569301, 23389499, 24799706, 26186701, 26476733, 26856578, 26956263, 27118081, 27496741, 28266921, 28552805, 30105620, 30307608, 30872621, 31134127, 8189068		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	10606976, 10777560, 11313270, 11359901, 11520796, 16276422, 19912631, 20128425, 22295088, 24290284, 26186701, 28266921, 29051008, 29772310, 30307608, 31885011, 32265901, 32691468, 32754152, 33954879, 35303369, 36279417, 36786340, 9630231	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	CLINVAR_DG	11213808, 11971977, 17572155, 18463379, 18768869, 20956421, 25869295, 27484032		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	LHGDN	12200379, 17075247, 17476358		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe combined immunodeficiency due to complete RAG1/2 deficiency	Severe combined immunodeficiency disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive	Severe combined immunodeficiency disease	CLINVAR_DG	10891502, 11133745, 11313270, 15025726, 16111638, 16960852, 17572155, 18033247, 18442948, 18701881, 19458910, 21624848, 23243423, 24290284, 25707801, 26186701, 26692406		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive	Severe combined immunodeficiency disease	UNIPROT_DG	8810255		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive	Severe combined immunodeficiency disease	ORPHANET_DG	8810255		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive	Severe combined immunodeficiency disease	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sezary Syndrome	Sezary Syndrome	BEFREE	22897578		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary syndrome	Pubtator	27039262	Associate	★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	BEFREE	22449947		★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	Pubtator	26186701	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	10891502	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	28904861		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	21909078	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Typhlitis	Typhlitis	BEFREE	23027534		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	19666230, 21482794		★☆☆☆☆ Found in Text Mining only
Vasculitis Leukocytoclastic Cutaneous	Vasculitis	Pubtator	26186701	Associate	★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom macroglobulinemia	Pubtator	27301862	Associate	★☆☆☆☆ Found in Text Mining only