TNFRSF13B (TNF receptor superfamily member 13B)

Gene

• Entrez ID: 23495
• Gene name: TNF receptor superfamily member 13B
• Gene symbol: TNFRSF13B
• Synonyms (NCBI Gene): CD267, CVID, CVID2, IGAD2, RYZN, TACI, TNFRSF14B
• Chromosome: 17
• Chromosome location: 17p11.2
• Summary: The protein encoded by this gene is a lymphocyte-specific member of the tumor necrosis factor (TNF) receptor superfamily. It interacts with calcium-modulator and cyclophilin ligand (CAML). The protein induces activation of the transcription factors NFAT,

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34557412	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, pathogenic, likely-pathogenic, risk-factor	Missense variant, coding sequence variant
rs72553875	->T	Pathogenic-likely-pathogenic, pathogenic, uncertain-significance	Frameshift variant, coding sequence variant
rs72553876	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs72553877	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs72553879	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs72553882	G>C,T	Pathogenic	Stop gained, coding sequence variant
rs72553883	G>A,T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, likely-benign, pathogenic	Missense variant, coding sequence variant
rs72553885	G>A,C,T	Pathogenic, uncertain-significance	Synonymous variant, stop gained, missense variant, coding sequence variant
rs104894649	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, pathogenic	Missense variant, coding sequence variant
rs104894650	G>A,C,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs121908379	GG>CC,TT	Pathogenic	Coding sequence variant, stop gained, missense variant
rs143027621	A>C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs150101848	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs769165409	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1016142312	C>A,T	Pathogenic	Splice donor variant
rs1265262160	CTTGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1303637368	->TC	Pathogenic	Coding sequence variant, frameshift variant
rs1555550717	G>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT037200	hsa-miR-877-3p	CLASH	23622248
MIRT625335	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT625334	hsa-miR-181a-2-3p	HITS-CLIP	23824327
MIRT625333	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT661879	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT625332	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT625331	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT625330	hsa-miR-1254	HITS-CLIP	23824327
MIRT625329	hsa-miR-3116	HITS-CLIP	23824327
MIRT625328	hsa-miR-661	HITS-CLIP	23824327
MIRT625327	hsa-miR-4284	HITS-CLIP	23824327
MIRT625326	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT625325	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT625324	hsa-miR-8057	HITS-CLIP	23824327
MIRT625335	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT625334	hsa-miR-181a-2-3p	HITS-CLIP	23824327
MIRT625333	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT625332	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT625331	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT625330	hsa-miR-1254	HITS-CLIP	23824327
MIRT625329	hsa-miR-3116	HITS-CLIP	23824327
MIRT625328	hsa-miR-661	HITS-CLIP	23824327
MIRT625327	hsa-miR-4284	HITS-CLIP	23824327
MIRT625326	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT625325	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT625324	hsa-miR-8057	HITS-CLIP	23824327
MIRT625335	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT625334	hsa-miR-181a-2-3p	HITS-CLIP	23824327
MIRT625333	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT661879	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT625332	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT625331	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT625330	hsa-miR-1254	HITS-CLIP	23824327
MIRT625329	hsa-miR-3116	HITS-CLIP	23824327
MIRT625328	hsa-miR-661	HITS-CLIP	23824327
MIRT625327	hsa-miR-4284	HITS-CLIP	23824327
MIRT625326	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT625325	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT625324	hsa-miR-8057	HITS-CLIP	23824327
MIRT625335	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT625334	hsa-miR-181a-2-3p	HITS-CLIP	23824327
MIRT625333	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT625332	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT625331	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT625330	hsa-miR-1254	HITS-CLIP	23824327
MIRT625329	hsa-miR-3116	HITS-CLIP	23824327
MIRT625328	hsa-miR-661	HITS-CLIP	23824327
MIRT625327	hsa-miR-4284	HITS-CLIP	23824327
MIRT625326	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT625325	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT625324	hsa-miR-8057	HITS-CLIP	23824327
MIRT1442960	hsa-miR-125a-5p	CLIP-seq
MIRT1442961	hsa-miR-125b	CLIP-seq
MIRT1442962	hsa-miR-1470	CLIP-seq
MIRT1442963	hsa-miR-3183	CLIP-seq
MIRT1442964	hsa-miR-3675-3p	CLIP-seq
MIRT1442965	hsa-miR-4287	CLIP-seq
MIRT1442966	hsa-miR-4319	CLIP-seq
MIRT1442967	hsa-miR-4446-5p	CLIP-seq
MIRT1442968	hsa-miR-4469	CLIP-seq
MIRT1442969	hsa-miR-4667-3p	CLIP-seq
MIRT1442970	hsa-miR-4685-3p	CLIP-seq
MIRT1442971	hsa-miR-4723-3p	CLIP-seq
MIRT1442972	hsa-miR-4732-3p	CLIP-seq
MIRT1442973	hsa-miR-4755-5p	CLIP-seq
MIRT1442974	hsa-miR-642a	CLIP-seq
MIRT1442975	hsa-miR-670	CLIP-seq
MIRT2132561	hsa-miR-3120-5p	CLIP-seq
MIRT1442963	hsa-miR-3183	CLIP-seq
MIRT1442968	hsa-miR-4469	CLIP-seq
MIRT1442971	hsa-miR-4723-3p	CLIP-seq
MIRT2132562	hsa-miR-593	CLIP-seq
MIRT1442974	hsa-miR-642a	CLIP-seq
MIRT2132561	hsa-miR-3120-5p	CLIP-seq
MIRT1442963	hsa-miR-3183	CLIP-seq
MIRT1442965	hsa-miR-4287	CLIP-seq
MIRT1442968	hsa-miR-4469	CLIP-seq
MIRT1442970	hsa-miR-4685-3p	CLIP-seq
MIRT1442971	hsa-miR-4723-3p	CLIP-seq
MIRT2132562	hsa-miR-593	CLIP-seq
MIRT1442974	hsa-miR-642a	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001782	Process	B cell homeostasis	IBA
GO:0002244	Process	Hematopoietic progenitor cell differentiation	IBA
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0005515	Function	Protein binding	IPI	10801128, 10880535, 10956646, 20676093, 25416956, 25910212, 32296183
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9311921
GO:0007166	Process	Cell surface receptor signaling pathway	TAS	9311921
GO:0016020	Component	Membrane	IEA
GO:0030889	Process	Negative regulation of B cell proliferation	IBA
GO:0038023	Function	Signaling receptor activity	TAS	9311921

Other IDs

• MIM: 604907
• HGNC: 18153
• e!Ensembl: ENSG00000240505

Protein

• UniProt ID: O14836
• Protein name: Tumor necrosis factor receptor superfamily member 13B (Transmembrane activator and CAML interactor) (CD antigen CD267)
• Protein function: Receptor for TNFSF13/APRIL and TNFSF13B/TALL1/BAFF/BLYS that binds both ligands with similar high affinity. Mediates calcineurin-dependent activation of NF-AT, as well as activation of NF-kappa-B and AP-1. Involved in the stimulation of B- and T
• PDB: 1XU1, 1XUT
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09305	TACI-CRD2	32 → 68	TACI, cysteine-rich domain	Domain
  PF09305	TACI-CRD2	69 → 107	TACI, cysteine-rich domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in spleen, thymus, small intestine and peripheral blood leukocytes. Expressed in resting B-cells and activated T-cells, but not in resting T-cells.
• Sequence:

  MSGLGRSRRGGRSRVDQEERFPQGLWTGVAMRSCPEEQYWDPLLGTCMSCKTICNHQSQR
  TCAAFCRSLSCRKEQGKFYDHLLRDCISCASICGQHPKQCAYFCENKLRSPVNLPPELRR
  QRSGEVENNSDNSGRYQGLEHRGSEASPALPGLKLSADQVALVYSTLGLCLCAVLCCFLV
  AVACFLKKRGDPCSCQPRSRPRQSPAKSSQDHAMEAGSPVSTSPEPVETCSFCFPECRAP
  TQESAVTPGTPDPTCAGRWGCHTRTTVLQPCPHIPDSGLGIVCVPAQEGGPGA

• Sequence length: 293

Pathways

KEGG:

Cytokine-cytokine receptor interaction
Intestinal immune network for IgA production
Primary immunodeficiency

Reactome:

TNFs bind their physiological receptors

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
Common variable immunodeficiency	Likely pathogenic; Pathogenic	rs72553883, rs760885614	RCV001199863 RCV003493823	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunodeficiency, common variable, 1	Pathogenic	rs104894650	RCV002283472	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunodeficiency, common variable, 2	Pathogenic; Likely pathogenic	rs1286642936, rs756955033, rs1383649750, rs2087501902, rs72553878, rs1016142312, rs1286673507, rs760885614, rs72553882, rs774955611, rs72553883, rs121908379, rs104894650, rs1406728306, rs1179744489, rs1555550717, rs72553885, rs1265262160, rs1303637368, rs144718007, rs759649059, rs1293048695	RCV001384166 RCV001809180 RCV001945527 RCV001935071 RCV001946976 RCV001958606 RCV001886081 RCV002002029 RCV000185537 RCV002765802 RCV000005625 RCV000005630 RCV000005631 RCV000702330 RCV003614269 RCV003614277 RCV000648133 RCV000813899 RCV000814655 RCV000801536 RCV000801740 RCV001043041 RCV001057949 RCV001212531 RCV001267804	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Immunoglobulin A deficiency 2	Likely pathogenic; Pathogenic	rs1016142312, rs72553882, rs72553883, rs144718007	RCV002492126 RCV000185538 RCV000005626 RCV001254048	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TNFRSF13B-related disorder	Pathogenic; Likely pathogenic	rs72553878, rs1434385525, rs2508206711, rs1265262160	RCV003941225 RCV003404696 RCV003391570 RCV003908104	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMINO ACID METABOLISM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN INJURIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Common Variable Immune Deficiency, Dominant	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMMON VARIABLE IMMUNODEFICIENCY PHENOTYPE DUE TO HOMOZYGOUS TACI DEFICIENCY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF PHARYNX	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPER-IGM IMMUNODEFICIENCY SYNDROME, TYPE 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyper-IgM syndrome type 2	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IgAD1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immune deficiency, familial variable	Conflicting classifications of pathogenicity; risk factor	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE MYELOMA	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe SARS-CoV-2 infection, susceptibility to	Conflicting classifications of pathogenicity; risk factor	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TONSILLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER RESPIRATORY TRACT DISORDER	—	GWAS catalog	★★☆☆☆ 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	10194166, 16007086, 16007087, 16264328, 16899196, 17464555, 17492055, 18981294, 19210517, 19605846, 19629655, 20156508, 20889194, 21458042, 21514638, 21724465, 21850030, 22076597, 24809296		★☆☆☆☆ Found in Text Mining only
Acquired Hypogammaglobulinemia	Common Variable Immunodeficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	Pubtator	18981294, 22697072, 23225259	Associate	★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	18978466		★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic Autoimmune	Autoimmune hemolytic anemia	Pubtator	33838017	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Antibody Deficiency Syndrome	Antibody Deficiency Syndrome	BEFREE	18978466, 18981294, 20805886, 27123465		★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	33483588	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	17467261, 17603288, 21850030		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	12594954, 16007087, 21850030, 22697072, 23219764, 24051380, 24747700, 25505277, 25533501, 26100089, 27123465, 29599028, 3957001		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	17556024, 22697072, 23956760, 24051372, 34441032, 34686572	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases of the Nervous System	Autoimmune nervous system disorder	Pubtator	18981294, 24051380	Associate	★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25750171		★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	BEFREE	24747700		★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	24740199	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24740199		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	17467261		★☆☆☆☆ Found in Text Mining only
Christ-Siemens-Touraine syndrome	Hypohidrotic Ectodermal Dysplasia, X-Linked	BEFREE	21724465		★☆☆☆☆ Found in Text Mining only
Chronic granulomatous disease	Granulomatous Disease	BEFREE	23773925		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	24100449, 25950010		★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Pain	Chronic pain	Pubtator	28221285	Associate	★☆☆☆☆ Found in Text Mining only
Combined Cellular And Humoral Immune Defects With Granulomas	Combined cellular and humoral immune defects with granulomas	Pubtator	21514638	Associate	★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	10194166, 16007086, 16007087, 16264328, 16630947, 16838132, 16899196, 17173844, 17464555, 17467261, 17492055, 17917015, 18204790, 18254984, 18978466, 18981294, 19210517, 19494827, 19605846, 19629655, 20156508, 20442656, 20889194, 21458042, 21514638, 21547394, 21724465, 21815909, 21850030, 21905497, 22076597, 22627058, 22699762, 22884984, 23026770, 24051380, 24809296, 26100089, 26122175, 29867916, 31681716, 3957001		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Common Variable Immunodeficiency	Common Variable Immunodeficiency	ORPHANET_DG	16007086		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Common variable immunodeficiency	Common Variable Immunodeficiency	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Common Variable Immunodeficiency	Common Variable Immunodeficiency	LHGDN	16007087, 17392797, 17392798, 17983875		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	17556024, 17983875, 18254984, 18981294, 19210517, 19775471, 20652909, 21514638, 21815909, 21905497, 22697072, 23237420, 23956760, 24051372, 24051380, 26100089, 26122175, 27016798, 27123465, 29867916, 33838017, 33859323, 34441032, 35354034, 35570134, 36072607	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Common Variable Immunodeficiency	Common Variable Immunodeficiency	GENOMICS_ENGLAND_DG	29114388		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Common Variable Immunodeficiency	Common Variable Immunodeficiency	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Conjunctivitis	Conjunctivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	BEFREE	31004231		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	34822764	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	28951327	Associate	★☆☆☆☆ Found in Text Mining only
Dysgammaglobulinemia	Dysfibrinogenemia	Pubtator	19210517, 19903677	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	24740199		★☆☆☆☆ Found in Text Mining only
Evans syndrome	Evans Syndrome	BEFREE	31396497		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30564626		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30564626		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	24376672		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	31088610	Associate	★☆☆☆☆ Found in Text Mining only
Granulomatous Disease Chronic	Granulomatous disease	Pubtator	23773925	Inhibit	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	33926416	Inhibit	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	23955597	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	16960154, 19291294	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	23956760	Associate	★☆☆☆☆ Found in Text Mining only
Hypogammaglobulinemia	Hypogammaglobulinemia	BEFREE	10194166, 22627058, 22697072, 25454804, 31396497		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	34073225	Associate	★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	31088610		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immune System Diseases	Immune system disease	Pubtator	17983875, 28834165, 33710309, 33726816, 33838017, 38547930	Associate	★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	24889407, 28834165		★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	HPO_DG			★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY, COMMON VARIABLE, 2	Common Variable Immunodeficiency	CLINVAR_DG	16007086, 16007087, 17392797, 17392798, 18981294, 19605846, 19779048, 20156508, 20889194, 21419480, 21458042, 22697072, 22884984, 22983507, 23237420, 24051380, 26046366, 26100089, 27123465		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IMMUNODEFICIENCY, COMMON VARIABLE, 2	Common Variable Immunodeficiency	GENOMICS_ENGLAND_DG	16007086, 29114388		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IMMUNODEFICIENCY, COMMON VARIABLE, 2	Common Variable Immunodeficiency	UNIPROT_DG	16007086		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Immunoglobulin A deficiency (disorder)	Immunoglobulin A deficiency	BEFREE	15963052, 16007086, 16899196, 17917015, 19392801		★☆☆☆☆ Found in Text Mining only
Immunoglobulin A deficiency (disorder)	Immunoglobulin A deficiency	LHGDN	16007086, 17392797, 17392798		★☆☆☆☆ Found in Text Mining only
Immunoglobulin a deficiency 2	Immunoglobulin A Deficiency	UNIPROT_DG	16007086		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunoglobulin a deficiency 2	Immunoglobulin A Deficiency	CLINVAR_DG	18981294		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunoglobulin a deficiency 2	Immunoglobulin A Deficiency	GENOMICS_ENGLAND_DG	29114388		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunoglobulin a deficiency 2	Immunoglobulin A Deficiency	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunoglobulin Deficiency, Late-Onset	Immunoglobulin Deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	19775471		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	16618819		★☆☆☆☆ Found in Text Mining only
Kabuki make-up syndrome	Kabuki Syndrome	BEFREE	29532571		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	29907458		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	14504101, 21687682	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	21687682		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	28844943		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Discoid	Discoid lupus erythematosus	Pubtator	24315762	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	35053379, 37675114	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	28844943		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	17464555, 17500077, 24315762, 26027434, 26424128, 28383107, 28844943, 30467093		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	20890272, 29907458		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	28844943		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	10048433, 18843286, 19291294, 22524835		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	19291294, 38547930	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	29619656		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19291294, 25950010, 31400636, 3957001		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	31004231		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	25750171		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	23418049	Associate	★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	25950010		★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	GWASCAT_DG	30737484		★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	22110251		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	14512299		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	Pubtator	14512299, 15827134, 16825497, 17550853, 17692805, 23955597, 24449210, 30135465, 33751038, 37980341, 38035078	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	BEFREE	15827134, 17550853, 17823926, 30135465		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	Pubtator	19291294	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	GWASCAT_DG	23955597, 27363682		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	GWASDB_DG	23955597		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	CTD_human_DG	23955597		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	19291294, 25750171, 28433201		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	33838017	Associate	★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Immunoglobulin A deficiency	Immunoglobulin A Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Paraproteinemias	Paraproteinemia	GWASCAT_DG	30737484		★☆☆☆☆ Found in Text Mining only
Primary central nervous system lymphoma	Central Nervous System Lymphoma	BEFREE	28521029, 30564626		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	22166983		★☆☆☆☆ Found in Text Mining only
Recurrent bronchitis	Bronchitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Recurrent sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	16630947		★☆☆☆☆ Found in Text Mining only
Rubinstein-Taybi Syndrome	Rubinstein-Taybi Syndrome	BEFREE	31396497		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	23956760	Associate	★☆☆☆☆ Found in Text Mining only
Selective immunoglobulin A deficiency	Selective Immunoglobulin A Deficiency	BEFREE	19210517, 19494827		★☆☆☆☆ Found in Text Mining only
Selective immunoglobulin A deficiency	Selective Immunoglobulin A Deficiency	GENOMICS_ENGLAND_DG	29114388		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	25454804, 30142533		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	32201227	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	22166983		★☆☆☆☆ Found in Text Mining only
Smith-Magenis syndrome	Smith-Magenis Syndrome	BEFREE	21514638, 26100089		★☆☆☆☆ Found in Text Mining only
Splenomegaly	Splenomegaly	Pubtator	17556024, 17983875, 34441032	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	22166983		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33134377	Associate	★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	BEFREE	16239971		★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	32991402	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	19291294		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	19291294	Stimulate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31400636		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	33665679	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom`s Macroglobulinemia	BEFREE	19291294		★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom macroglobulinemia	Pubtator	19291294	Associate	★☆☆☆☆ Found in Text Mining only
X-linked agammaglobulinemia	Agammaglobulinemia, X-Linked	BEFREE	10194166		★☆☆☆☆ Found in Text Mining only
Young Syndrome	Young syndrome	Pubtator	19775471	Associate	★☆☆☆☆ Found in Text Mining only