CARD11 (caspase recruitment domain family member 11)

Gene

• Entrez ID: 84433
• Gene name: Caspase recruitment domain family member 11
• Gene symbol: CARD11
• Synonyms (NCBI Gene): BENTA, BIMP3, CARMA1, IMD11, IMD11A, PPBL
• Chromosome: 7
• Chromosome location: 7p22.2
• Summary: The protein encoded by this gene belongs to the membrane-associated guanylate kinase (MAGUK) family, a class of proteins that functions as molecular scaffolds for the assembly of multiprotein complexes at specialized regions of the plasma membrane. This p

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs144358235	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs145474800	G>A,T	Pathogenic, uncertain-significance	Synonymous variant, coding sequence variant, missense variant
rs200456391	G>A	Likely-pathogenic, uncertain-significance	Intron variant
rs201780608	G>A	Not-provided, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs397514686	G>A	Pathogenic	Coding sequence variant, stop gained
rs750407488	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs771790639	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs794729673	C>T	Pathogenic	Coding sequence variant, missense variant
rs1064795307	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1554271741	G>A	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020564	hsa-miR-155-5p	Reporter assay;Other	20584899
MIRT041621	hsa-miR-146b-5p	CLASH	23622248
MIRT038232	hsa-miR-330-5p	CLASH	23622248
MIRT020564	hsa-miR-155-5p	Microarray	23807165
MIRT441006	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT441006	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT732127	hsa-miR-539-5p	Luciferase reporter assay, qRT-PCR, Western blot	26206083
MIRT732127	hsa-miR-539-5p	Luciferase reporter assay, qRT-PCR, Western blot	26206083
MIRT735678	hsa-miR-181a-5p	Luciferase reporter assay, Western blotting, qRT-PCR, Flow cytometry	31662757
MIRT2193477	hsa-miR-4265	CLIP-seq
MIRT2193478	hsa-miR-4296	CLIP-seq
MIRT2193479	hsa-miR-4322	CLIP-seq
MIRT2193480	hsa-miR-4417	CLIP-seq
MIRT2193481	hsa-miR-4640-5p	CLIP-seq
MIRT2193482	hsa-miR-4660	CLIP-seq
MIRT2193483	hsa-miR-4661-3p	CLIP-seq
MIRT2193484	hsa-miR-4726-5p	CLIP-seq
MIRT2193485	hsa-miR-486-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001772	Component	Immunological synapse	IBA
GO:0001772	Component	Immunological synapse	IEA
GO:0002376	Process	Immune system process	IEA
GO:0004385	Function	GMP kinase activity	NAS	11278692
GO:0005515	Function	Protein binding	IPI	12154360, 16809782, 17287217, 17948050, 19118383, 19444310, 19706536, 19815501, 21157432, 22528498, 27777308, 31296852
GO:0005737	Component	Cytoplasm	IDA	12154360
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	12154360
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007249	Process	Canonical NF-kappaB signal transduction	IMP	28628108
GO:0016020	Component	Membrane	IEA
GO:0030183	Process	B cell differentiation	IEA
GO:0030890	Process	Positive regulation of B cell proliferation	IEA
GO:0031295	Process	T cell costimulation	IDA	17287217
GO:0032449	Component	CBM complex	IDA	24074955, 28628108
GO:0032743	Process	Positive regulation of interleukin-2 production	IEA
GO:0032743	Process	Positive regulation of interleukin-2 production	IEA
GO:0032743	Process	Positive regulation of interleukin-2 production	IMP	12154360
GO:0035739	Process	CD4-positive, alpha-beta T cell proliferation	IEA
GO:0038202	Process	TORC1 signaling	IMP	28628108
GO:0042100	Process	B cell proliferation	IEA
GO:0042110	Process	T cell activation	IEA
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IBA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IMP	12154360
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	ISS
GO:0045061	Process	Thymic T cell selection	IEA
GO:0045121	Component	Membrane raft	IDA	12154360, 17287217
GO:0045121	Component	Membrane raft	IEA
GO:0045577	Process	Regulation of B cell differentiation	IEA
GO:0045580	Process	Regulation of T cell differentiation	IEA
GO:0046037	Process	GMP metabolic process	IEA
GO:0046649	Process	Lymphocyte activation	IEA
GO:0046710	Process	GDP metabolic process	IEA
GO:0048872	Process	Homeostasis of number of cells	IEA
GO:0050700	Function	CARD domain binding	IPI	11278692
GO:0050776	Process	Regulation of immune response	IEA
GO:0050862	Process	Positive regulation of T cell receptor signaling pathway	IBA
GO:0050862	Process	Positive regulation of T cell receptor signaling pathway	IEA
GO:0050862	Process	Positive regulation of T cell receptor signaling pathway	IMP	12154360
GO:0050862	Process	Positive regulation of T cell receptor signaling pathway	ISS
GO:0050870	Process	Positive regulation of T cell activation	IEA
GO:0050870	Process	Positive regulation of T cell activation	IEA
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IDA	24074955
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IMP	12154360
GO:0051260	Process	Protein homooligomerization	IDA	24074955, 31296852
GO:0070062	Component	Extracellular exosome	HDA	18570454
GO:2000563	Process	Positive regulation of CD4-positive, alpha-beta T cell proliferation	IEA

Other IDs

• MIM: 607210
• HGNC: 16393
• e!Ensembl: ENSG00000198286

Protein

• UniProt ID: Q9BXL7
• Protein name: Caspase recruitment domain-containing protein 11 (CARD-containing MAGUK protein 1) (Carma 1)
• Protein function: Adapter protein that plays a key role in adaptive immune response by transducing the activation of NF-kappa-B downstream of T-cell receptor (TCR) and B-cell receptor (BCR) engagement (PubMed:11278692, PubMed:11356195, PubMed:12356734). Transduce
• PDB: 4JUP, 4LWD
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00619	CARD	23 → 109	Caspase recruitment domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in adult peripheral blood leukocytes, thymus, spleen and liver. Also found in promyelocytic leukemia HL-60 cells, chronic myelogenous leukemia K-562 cells, Burkitt's lymphoma Raji cells and colorectal adenocarcinoma SW480 cell
• Sequence:

  MPGGGPEMDDYMETLKDEEDALWENVECNRHMLSRYINPAKLTPYLRQCKVIDEQDEDEV
  LNAPMLPSKINRAGRLLDILHTKGQRGYVVFLESLEFYYPELYKLVTGKEPTRRFSTIVV
  EEGHEGLTHFLMNEVIKLQQQMKAKDLQRCELLARLRQLEDEKKQMTLTRVELLTFQERY
  YKMKEERDSYNDELVKVKDDNYNLAMRYAQLSEEKNMAVMRSRDLQLEIDQLKHRLNKME
  EECKLERNQSLKLKNDIENRPKKEQVLELERENEMLKTKNQELQSIIQAGKRSLPDSDKA
  ILDILEHDRKEALEDRQELVNRIYNLQEEARQAEELRDKYLEEKEDLELKCSTLGKDCEM
  YKHRMNTVMLQLEEVERERDQAFHSRDEAQTQYSQCLIEKDKYRKQIRELEEKNDEMRIE
  MVRREACIVNLESKLRRLSKDSNNLDQSLPRNLPVTIISQDFGDASPRTNGQEADDSSTS
  EESPEDSKYFLPYHPPQRRMNLKGIQLQRAKSPISLKRTSDFQAKGHEEEGTDASPSSCG
  SLPITNSFTKMQPPRSRSSIMSITAEPPGNDSIVRRYKEDAPHRSTVEEDNDSGGFDALD
  LDDDSHERYSFGPSSIHSSSSSHQSEGLDAYDLEQVNLMFRKFSLERPFRPSVTSVGHVR
  GPGPSVQHTTLNGDSLTSQLTLLGGNARGSFVHSVKPGSLAEKAGLREGHQLLLLEGCIR
  GERQSVPLDTCTKEEAHWTIQRCSGPVTLHYKVNHEGYRKLVKDMEDGLITSGDSFYIRL
  NLNISSQLDACTMSLKCDDVVHVRDTMYQDRHEWLCARVDPFTDHDLDMGTIPSYSRAQQ
  LLLVKLQRLMHRGSREEVDGTHHTLRALRNTLQPEEALSTSDPRVSPRLSRASFLFGQLL
  QFVSRSENKYKRMNSNERVRIISGSPLGSLARSSLDATKLLTEKQEELDPESELGKNLSL
  IPYSLVRAFYCERRRPVLFTPTVLAKTLVQRLLNSGGAMEFTICKSDIVTRDEFLRRQKT
  ETIIYSREKNPNAFECIAPANIEAVAAKNKHCLLEAGIGCTRDLIKSNIYPIVLFIRVCE
  KNIKRFRKLLPRPETEEEFLRVCRLKEKELEALPCLYATVEPDMWGSVEELLRVVKDKIG
  EEQRKTIWVDEDQL

• Sequence length: 1154

Pathways

KEGG:

NF-kappa B signaling pathway
T cell receptor signaling pathway
B cell receptor signaling pathway

Reactome:

Activation of NF-kappaB in B cells
Downstream TCR signaling
FCERI mediated NF-kB activation
CLEC7A (Dectin-1) 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
Asthma	Pathogenic	rs387907352	RCV002243689	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BENTA disease	Pathogenic; Likely pathogenic	rs542412710, rs2115044716, rs2115075086, rs1404170214, rs1423056320, rs145474800, rs2115075051, rs1780191273, rs2115046344, rs2115035271, rs2115070994, rs571517554, rs794729673, rs2535026065, rs762770988, rs750486472, rs1779626148, rs2535021241, rs950016126, rs771051299, rs2115087153, rs765680532, rs1554271741, rs387907351, rs387907352	RCV001383097 RCV001381722 RCV001382589 RCV001380670 RCV001619931 RCV001542760 RCV002035356 RCV002009770 RCV002046236 RCV001890182 RCV002279914 RCV000162028 RCV000185616 RCV002791598 RCV002913091 RCV003782356 RCV003787452 RCV003792474 RCV003791419 RCV003795045 RCV003808768 RCV003807288 RCV000528697 RCV000651145 RCV000651149 RCV000041968 RCV000041969	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Immunodeficiency 11b with atopic dermatitis	Likely pathogenic; Pathogenic	rs1423056320, rs2115093887, rs2115094112, rs2535127927, rs2115038523, rs145474800	RCV003224811 RCV001543391 RCV001543387 RCV002286323 RCV002286326 RCV003482923 RCV002285361	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteopenia	Pathogenic	rs387907352	RCV002243689	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe combined immunodeficiency due to CARD11 deficiency	Pathogenic; Likely pathogenic	rs542412710, rs2115044716, rs2115075086, rs1404170214, rs1423056320, rs2115075051, rs1780191273, rs2115046344, rs2115035271, rs571517554, rs794729673, rs2535026065, rs762770988, rs750486472, rs1779626148, rs2535021241, rs950016126, rs771051299, rs2115087153, rs145474800, rs765680532, rs1554271741, rs387907352, rs397514686	RCV001383097 RCV001381722 RCV001382589 RCV001380670 RCV003224811 RCV002035356 RCV002009770 RCV002046236 RCV001890182 RCV001850281 RCV001390618 RCV002791598 RCV002913091 RCV003782356 RCV003787452 RCV003792474 RCV003791419 RCV003795045 RCV003808768 RCV003807288 RCV000528697 RCV000651145 RCV000651149 RCV001057931 RCV000041970	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Splenomegaly	Pathogenic	rs387907352	RCV002243689	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN ANEURYSM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARD11-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CID DUE TO CARD11 DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED IMMUNODEFICIENCY DUE TO CARD11 DEFICIENCY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF CARDIOVASCULAR SYSTEM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, ATOPIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemophagocytosis	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 11	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 11A	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA-LYMPHOMA, ADULT T-CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOMA, LARGE B-CELL, DIFFUSE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT EPITHELIAL TUMOR OF OVARY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasm	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL VASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEZARY SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ 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	21905497		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	18323416, 21266526, 22397314, 23632891, 26884334, 27915469, 30474008		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	CTD_human_DG	26437031		★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	Pubtator	35651609	Associate	★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	30592273		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28826773		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	36405754	Associate	★☆☆☆☆ Found in Text Mining only
B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY	B-Cell Expansion With NFKB And T-Cell Anergy	UNIPROT_DG	23129749, 28628108		★☆☆☆☆ Found in Text Mining only
B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY	B-Cell Expansion With NFKB And T-Cell Anergy	ORPHANET_DG	23129749, 25352053, 25930198		★☆☆☆☆ Found in Text Mining only
B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY	B-Cell Expansion With NFKB And T-Cell Anergy	GENOMICS_ENGLAND_DG	25352053, 28747751		★☆☆☆☆ Found in Text Mining only
B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY	B-Cell Expansion With NFKB And T-Cell Anergy	BEFREE	28824638		★☆☆☆☆ Found in Text Mining only
B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY	B-Cell Expansion With NFKB And T-Cell Anergy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY	B-Cell Expansion With NFKB And T-Cell Anergy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	15598810, 24375035, 26277595, 27071417, 29382759, 31049936		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	LHGDN	18323416		★☆☆☆☆ Found in Text Mining only
BENTA disease	B-Cell Expansion With NFKB And T-Cell Anergy	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	24740199	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32473470	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	26212909	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	30445744, 35651609	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24740199		★☆☆☆☆ Found in Text Mining only
Chagas Cardiomyopathy	Chagas cardiomyopathy	Pubtator	29438387	Associate	★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	22138691		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	23690290, 30508305		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	35651609	Associate	★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	22138691		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28675510, 29188362	Associate	★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	BEFREE	23374270, 28826773		★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG	25352053		★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	21905497		★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	21905497, 33859323, 35651609	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	22138691		★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	27421022, 28628108, 30619304, 35651609	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic 1	Atopic dermatitis	Pubtator	30619304	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	23042114, 27421022, 28628108, 31087793		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis, Atopic	Dermatitis	CTD_human_DG	23042114, 28628108		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis, Atopic	Dermatitis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	16572121, 17043017, 18323416, 20544211, 20799731, 20947507, 21266526, 21324920, 22397314, 22808296, 23632891, 24060900, 24327543, 26668357, 26776161, 26884334, 26884335, 27070702, 27915469, 29734251, 30127060, 30474008, 31662757		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	CTD_human_DG	25049379, 26192916		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	23042114, 27421022, 28628108, 31087793		★☆☆☆☆ Found in Text Mining only
Eczema, Infantile	Eczema	CTD_human_DG	23042114, 28628108		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	29928437		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	24740199		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	39849652	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30071522		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glomerulonephritis	Glomerulonephritis	Pubtator	37562721	Associate	★☆☆☆☆ Found in Text Mining only
Granulomatous Slack Skin	Granulomatous Slack Skin	CTD_human_DG	26192916		★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	28628108, 30170123, 30619304	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	30170123, 35651609	Associate	★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY 11	Immunodeficiency	ORPHANET_DG	23374270, 23561803		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 11	Immunodeficiency	GENOMICS_ENGLAND_DG	25352053		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 11	Immunodeficiency	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 11	Immunodeficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS	Immunodeficiency 11b with atopic dermatitis	GENOMICS_ENGLAND_DG	25352053, 28628108		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS	Immunodeficiency 11b with atopic dermatitis	UNIPROT_DG	28628108		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS	Immunodeficiency 11b with atopic dermatitis	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	24375035		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30008619		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	GWASCAT_DG	29531279		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	24386384	Associate	★☆☆☆☆ Found in Text Mining only
Lymphocytosis	Lymphocytosis	BEFREE	12685827, 25352053		★☆☆☆☆ Found in Text Mining only
Lymphocytosis	Lymphocytosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	16177990, 16484591, 25991819, 26540570, 26884334, 26884335, 32473470, 33399078, 33581493, 37623434	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	16484591, 17043017, 20054396, 20668237, 23149938, 26540570, 26776161, 26884334, 30360939		★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	35734168	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	26256760, 29222279		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	30283447		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	30283447		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	CTD_human_DG	26192916		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	26277595		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	32473470	Associate	★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	27224912		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	26206083		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23129749, 24060900, 27915469, 31220210		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	27224912, 27864294		★☆☆☆☆ Found in Text Mining only
Marginal Zone B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	12685827		★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	28675510, 29188362		★☆☆☆☆ Found in Text Mining only
Mediastinal (Thymic) Large B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	25275047		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	35962880	Associate	★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse	Mitral valve prolapse	Pubtator	37180137	Associate	★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	28682481, 30022982		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	24092328		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	30479356	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	18323416, 28664939, 28675510, 30071522, 31092922		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	31554683		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	Pubtator	30619304	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	30170123	Associate	★☆☆☆☆ Found in Text Mining only
Omenn Syndrome	Omenn Syndrome	BEFREE	26289640		★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	22138691		★☆☆☆☆ Found in Text Mining only
Persistent Polyclonal B-Cell Lymphocytosis	Persistent Polyclonal B-Cell Lymphocytosis	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Persistent polyclonal B-cell lymphocytosis	Persistent Polyclonal B-Cell Lymphocytosis	Orphanet			★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	25384343		★☆☆☆☆ Found in Text Mining only
Primary central nervous system lymphoma	Central Nervous System Lymphoma	BEFREE	20544211		★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	25087226, 30283447, 30619304		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	27421022	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	27421022, 28301668		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	22138691		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	22138691		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	23561803, 30170123		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	30170123	Associate	★☆☆☆☆ Found in Text Mining only
Severe combined immunodeficiency due to CARD11 deficiency	Severe combined immunodeficiency disease	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sezary Syndrome	Sezary Syndrome	CTD_human_DG	26551667, 26551670		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sezary Syndrome	Sezary syndrome	Pubtator	26551667, 26551670	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	26212909		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35936362	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	26206083		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	26206083		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner syndrome	Pubtator	30530863	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	34370778	Associate	★☆☆☆☆ Found in Text Mining only
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic syndrome	Pubtator	35003060	Associate	★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom macroglobulinemia	Pubtator	30402490	Associate	★☆☆☆☆ Found in Text Mining only