CARD9 (caspase recruitment domain family member 9)

Gene

• Entrez ID: 64170
• Gene name: Caspase recruitment domain family member 9
• Gene symbol: CARD9
• Synonyms (NCBI Gene): CANDF2, IMD103, hCARD9
• Chromosome: 9
• Chromosome location: 9q34.3
• Summary: The protein encoded by this gene is a member of the CARD protein family, which is defined by the presence of a characteristic caspase-associated recruitment domain (CARD). CARD is a protein interaction domain known to participate in activation or suppress

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918338	G>A	Pathogenic	Coding sequence variant, stop gained
rs149712114	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs398122362	C>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs398122363	G>A	Pathogenic	Stop gained, coding sequence variant
rs398122364	G>A	Pathogenic	Missense variant, coding sequence variant
rs746470735	TCTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs774391206	G>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs921151054	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1379376784	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1564367364	->C	Pathogenic	Frameshift variant, coding sequence variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001819	Process	Positive regulation of cytokine production	IEA
GO:0001819	Process	Positive regulation of cytokine production	IMP	24231284, 25057046
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002446	Process	Neutrophil mediated immunity	IEA
GO:0002446	Process	Neutrophil mediated immunity	IMP	26679537
GO:0005515	Function	Protein binding	IPI	22267217, 25416956, 26871637, 29892012, 31515488, 32296183, 32814053, 36217029
GO:0005737	Component	Cytoplasm	IDA	26488816
GO:0005737	Component	Cytoplasm	IDA	11053425
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0007254	Process	JNK cascade	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009620	Process	Response to fungus	IEA
GO:0010604	Process	Positive regulation of macromolecule metabolic process	IEA
GO:0016064	Process	Immunoglobulin mediated immune response	IEA
GO:0016064	Process	Immunoglobulin mediated immune response	IMP	33548172
GO:0032449	Component	CBM complex	IBA
GO:0032449	Component	CBM complex	IEA
GO:0032494	Process	Response to peptidoglycan	IEA
GO:0032495	Process	Response to muramyl dipeptide	IEA
GO:0032663	Process	Regulation of interleukin-2 production	IEA
GO:0032675	Process	Regulation of interleukin-6 production	IEA
GO:0032680	Process	Regulation of tumor necrosis factor production	IEA
GO:0032722	Process	Positive regulation of chemokine production	IEA
GO:0032725	Process	Positive regulation of granulocyte macrophage colony-stimulating factor production	IMP	26961233
GO:0032740	Process	Positive regulation of interleukin-17 production	IMP	26961233
GO:0032755	Process	Positive regulation of interleukin-6 production	IEA
GO:0032755	Process	Positive regulation of interleukin-6 production	IMP	25702837, 26679537, 26961233, 29080677, 33558980
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IEA
GO:0032874	Process	Positive regulation of stress-activated MAPK cascade	IDA	17187069
GO:0032874	Process	Positive regulation of stress-activated MAPK cascade	IEA
GO:0032874	Process	Positive regulation of stress-activated MAPK cascade	ISS
GO:0032991	Component	Protein-containing complex	IDA	22267217
GO:0035591	Function	Signaling adaptor activity	IDA	11053425
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0042803	Function	Protein homodimerization activity	IPI	11053425
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	IDA	18223652, 18287044
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	11053425
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEP	11053425
GO:0043330	Process	Response to exogenous dsRNA	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0045089	Process	Positive regulation of innate immune response	IEA
GO:0046330	Process	Positive regulation of JNK cascade	IDA	17187069
GO:0046330	Process	Positive regulation of JNK cascade	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048874	Process	Host-mediated modulation of intestinal microbiota composition	IEA
GO:0048874	Process	Host-mediated modulation of intestinal microbiota composition	IMP	33548172
GO:0050700	Function	CARD domain binding	IEA
GO:0050700	Function	CARD domain binding	IPI	11053425, 26488816, 31296852
GO:0050776	Process	Regulation of immune response	IBA
GO:0050830	Process	Defense response to Gram-positive bacterium	IEA
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IDA	26488816, 31296852
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IMP	25057046, 25702837, 29080677, 33558980
GO:0051260	Process	Protein homooligomerization	IDA	31296852
GO:0051403	Process	Stress-activated MAPK cascade	IEA
GO:0051607	Process	Defense response to virus	IEA
GO:0060907	Process	Positive regulation of macrophage cytokine production	IEA
GO:0061760	Process	Antifungal innate immune response	IDA	26488816
GO:0061760	Process	Antifungal innate immune response	IEA
GO:0061760	Process	Antifungal innate immune response	IMP	24231284, 25057046, 25702837, 26679537, 26961233, 29080677, 33548172, 33558980
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	ISS
GO:0097190	Process	Apoptotic signaling pathway	IMP	22267217
GO:1900017	Process	Positive regulation of cytokine production involved in inflammatory response	IEA
GO:1900017	Process	Positive regulation of cytokine production involved in inflammatory response	ISS
GO:1904044	Process	Response to aldosterone	IEA
GO:2000318	Process	Positive regulation of T-helper 17 type immune response	IEA
GO:2000318	Process	Positive regulation of T-helper 17 type immune response	IMP	24231284, 29080677

Other IDs

• MIM: 607212
• HGNC: 16391
• e!Ensembl: ENSG00000187796

Protein

• UniProt ID: Q9H257
• Protein name: Caspase recruitment domain-containing protein 9 (hCARD9)
• Protein function: Adapter protein that plays a key role in innate immune response against fungi by forming signaling complexes downstream of C-type lectin receptors (PubMed:26961233, PubMed:33558980). CARD9-mediated signals are essential for antifungal immunity a
• PDB: 6E25, 6E26, 6E27, 6E28, 6N2M, 6N2P, 9AVM, 9AVN
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00619	CARD	11 → 97	Caspase recruitment domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expression is restricted to several populations of phagocytes, such as macrophages, monocytes, and dendritic cells (PubMed:33548172). Highly expressed in spleen (PubMed:11053425). Also detected in liver, placenta, lung, peripheral bloo
• Sequence:

  MSDYENDDECWSVLEGFRVTLTSVIDPSRITPYLRQCKVLNPDDEEQVLSDPNLVIRKRK
  VGVLLDILQRTGHKGYVAFLESLELYYPQLYKKVTGKEPARVFSMIIDASGESGLTQLLM
  TEVMKLQKKVQDLTALLSSKDDFIKELRVKDSLLRKHQERVQRLKEECEAGSRELKRCKE
  ENYDLAMRLAHQSEEKGAALMRNRDLQLEIDQLKHSLMKAEDDCKVERKHTLKLRHAMEQ
  RPSQELLWELQQEKALLQARVQELEASVQEGKLDRSSPYIQVLEEDWRQALRDHQEQANT
  IFSLRKDLRQGEARRLRCMEEKEMFELQCLALRKDSKMYKDRIEAILLQMEEVAIERDQA
  IATREELHAQHARGLQEKDALRKQVRELGEKADELQLQVFQCEAQLLAVEGRLRRQQLET
  LVLSSDLEDGSPRRSQELSLPQDLEDTQLSDKGCLAGGGSPKQPFAALHQEQVLRNPHDA
  GLSSGEPPEKERRRLKESFENYRRKRALRKMQKGWRQGEEDRENTTGSDNTDTEGS

• Sequence length: 536

Pathways

KEGG:

NOD-like receptor signaling pathway
C-type lectin receptor signaling pathway
Tuberculosis
Herpes simplex virus 1 infection

Reactome:

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
Inherited Immunodeficiency Diseases	Pathogenic	rs1379376784	RCV001027549	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Predisposition to invasive fungal disease due to CARD9 deficiency	Likely pathogenic; Pathogenic	rs1272762412, rs2131443924, rs2131441761, rs753050033, rs121918338, rs766530086, rs768845190, rs766061901, rs1260364391, rs2538658638, rs2538669014, rs921094576, rs2538665837, rs1310355874, rs2538654287, rs746470735, rs1564367364, rs1833240016, rs398122363	RCV002015707 RCV001962015 RCV002037820 RCV002271346 RCV000003575 RCV002572152 RCV002816643 RCV002834586 RCV002890759 RCV002958124 RCV003037503 RCV003022379 RCV003501765 RCV003607635 RCV003608457 RCV000697296 RCV000687133 RCV001037926 RCV000074440	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANKYLOSING SPONDYLITIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARD9-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LEFT-SIDED ULCERATIVE COLITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLITIS, ULCERATIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMMON VARIABLE IMMUNODEFICIENCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEEP DERMATOPHYTOSIS	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATOMYCOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATOPHYTOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARGE ARTERY STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute pancreatitis	Pancreatitis	BEFREE	26893103, 27957800		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	20463747, 21743469, 24334645, 26590821		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis	Ankylosing Spondylitis	CTD_human_DG	21743469		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26301688, 26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety	Anxiety disorder	Pubtator	38098267	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	30867470		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	30867470		★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1	Autoimmune Diseases	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	Autoimmune Diseases	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28763100, 29777223, 30127791, 31594855		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	36782298	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome	Autoimmune lymphoproliferative disorder	Pubtator	24131138	Inhibit	★☆☆☆☆ Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome	Autoimmune lymphoproliferative disorder	Pubtator	24131138	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	25790941, 28158919		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24018495	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24018495	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	31008530		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	21944129	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	GWASCAT_DG	26301688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	21425313	Associate	★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	25702837, 27158904, 28399013, 29659908, 30231984, 30231985, 30850233, 31594855, 31650020		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	18439550, 21425313, 24068945	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	30231984, 30231985, 31008530		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30231985, 31650020		★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	GWASCAT_DG	26301688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital leukocyte adherence deficiency	Congenital Leukocyte Adherence Deficiency	BEFREE	27913461		★☆☆☆☆ Found in Text Mining only
Conjugated hyperbilirubinemia	Conjugated hyperbilirubinemia	BEFREE	24465786		★☆☆☆☆ Found in Text Mining only
Constipation	Constipation	Pubtator	38098267	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	18439550, 30008619, 30818349, 30850233		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	18439550, 24068945, 30818349	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASDB_DG	21102463		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	21102463, 26192919, 26301688, 26974007, 28067908		★☆☆☆☆ Found in Text Mining only
Deep seated dermatophytosis	Deep dermatophytosis	GENOMICS_ENGLAND_DG	24131138		★☆☆☆☆ Found in Text Mining only
Deep seated dermatophytosis	Deep dermatophytosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	38098267	Associate	★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	30082320		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	37958977	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Exanthema	Exanthema	Pubtator	34234782	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	24018495		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	37062285, 37685869	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	33912135	Associate	★☆☆☆☆ Found in Text Mining only
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant	STAT3 Deficiency	BEFREE	20674321		★☆☆☆☆ Found in Text Mining only
Hypereosinophilia	Hypereosinophilia	HPO_DG			★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	GWASCAT_DG	25305756		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA Glomerulonephritis	Glomerulonephritis	CTD_human_DG	25305756		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	29100328		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immune System Diseases	Immune system disease	Pubtator	36003392	Associate	★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	31595308		★☆☆☆☆ 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	19915667, 22419656, 26488816, 26722558, 27158904, 28399013, 28586167, 29073062, 30850233, 30906296, 31594855, 31696662		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	19915667, 21983784, 26722558, 27802154, 29073062	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	CTD_human_DG	21983784		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASDB_DG	23128233		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	23128233, 26192919, 28067908		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	38098267	Associate	★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	28842327	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	24465786	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	22949850		★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	36532052	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	16177990	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of lung	Lung Cancer	BEFREE	31008530		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28586167, 29881386, 30127791, 31650020		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	30231984, 30231985, 31008530		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	29575791		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	37958977	Associate	★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	16512826		★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	36248888	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30872079, 31008530, 31306536		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	26900039, 29575791		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	37958977	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis	Osteoarthritis	Pubtator	38098267	Associate	★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	BEFREE	26941346, 31719149		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	34734468	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	27957800		★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	26521038, 29307770		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	26301688, 26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal fibrosis	Renal fibrosis	BEFREE	22949850		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	26498133		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	31594855		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	28640392		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	31306536		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	18439550, 21425313, 24068945		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	20228799, 21297633, 26192919, 26301688, 26974007, 28067908		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASDB_DG	20228799, 21297633		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	CTD_human_DG	20228799		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic syndrome	Pubtator	36782298	Associate	★☆☆☆☆ Found in Text Mining only