NLRC4 (NLR family CARD domain containing 4)

Gene

• Entrez ID: 58484
• Gene name: NLR family CARD domain containing 4
• Gene symbol: NLRC4
• Synonyms (NCBI Gene): AIFEC, CARD12, CLAN, CLAN1, CLANA, CLANB, CLANC, CLAND, CLR2.1, FCAS4, IPAF
• Chromosome: 2
• Chromosome location: 2p22.3
• Summary: This gene encodes a member of the caspase recruitment domain-containing NLR family. Family members play essential roles in innate immune response to a wide range of pathogenic organisms, tissue damage and other cellular stresses. Mutations in this gene re

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777840	T>A	Pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs587781260	A>G	Pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs606231460	T>G	Pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs1057518687	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs1064795274	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs1573493407	G>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs1573494025	G>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017182	hsa-miR-335-5p	Microarray	18185580

Transcription factors

Transcription factor	Regulation	Reference
TP53	Activation	15580302

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	TAS	15882992
GO:0002218	Process	Activation of innate immune response	IEA
GO:0002218	Process	Activation of innate immune response	ISS
GO:0002221	Process	Pattern recognition receptor signaling pathway	NAS	21918512
GO:0002376	Process	Immune system process	IEA
GO:0005515	Function	Protein binding	IPI	11374873, 11390368, 11472070, 15107016, 17418785, 21918512, 22801494
GO:0005524	Function	ATP binding	IDA	15882992
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	24803432
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0006915	Process	Apoptotic process	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0006954	Process	Inflammatory response	ISS
GO:0010954	Process	Positive regulation of protein processing	IGI	15882992
GO:0016045	Process	Detection of bacterium	IBA
GO:0016045	Process	Detection of bacterium	IDA	15107016
GO:0016045	Process	Detection of bacterium	IEA
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IEA
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IGI	15882992
GO:0032731	Process	Positive regulation of interleukin-1 beta production	NAS	21918512
GO:0042742	Process	Defense response to bacterium	IBA
GO:0042742	Process	Defense response to bacterium	IDA	15107016
GO:0042742	Process	Defense response to bacterium	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	11374873, 11390368, 15882992
GO:0042803	Function	Protein homodimerization activity	IDA	15107016
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IDA	12646168
GO:0045087	Process	Innate immune response	IEA
GO:0046456	Process	Icosanoid biosynthetic process	NAS	22902502
GO:0050729	Process	Positive regulation of inflammatory response	NAS	21918512
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IDA	12646168
GO:0051260	Process	Protein homooligomerization	IEA
GO:0051260	Process	Protein homooligomerization	ISS
GO:0061133	Function	Endopeptidase activator activity	IGI	15882992
GO:0061702	Component	Canonical inflammasome complex	IEA
GO:0061702	Component	Canonical inflammasome complex	NAS	25879286
GO:0070269	Process	Pyroptotic inflammatory response	IEA
GO:0070269	Process	Pyroptotic inflammatory response	ISS
GO:0070269	Process	Pyroptotic inflammatory response	NAS	26121197
GO:0072557	Component	IPAF inflammasome complex	IEA
GO:0072557	Component	IPAF inflammasome complex	ISS
GO:0089720	Function	Caspase binding	IPI	15882992

Other IDs

• MIM: 606831
• HGNC: 16412
• e!Ensembl: ENSG00000091106

Protein

• UniProt ID: Q9NPP4
• Protein name: NLR family CARD domain-containing protein 4 (CARD, LRR, and NACHT-containing protein) (CED-4-like protein Clan) (Caspase recruitment domain-containing protein 12) (Ice protease-activating factor) (Ipaf)
• Protein function: Key component of inflammasomes that indirectly senses specific proteins from pathogenic bacteria and fungi and responds by assembling an inflammasome complex that promotes caspase-1 activation, cytokine production and macrophage pyroptosis (PubM
• PDB: 6K8J, 6MKS, 6N1I, 8FVU, 8FW2, 8FW9
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00619	CARD	1 → 87	Caspase recruitment domain	Domain
  PF05729	NACHT	163 → 316	NACHT domain	Domain
  PF17889	NLRC4_HD	465 → 579	NLRC4 helical domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Isoform 2 is expressed ubiquitously, although highly expressed in lung and spleen. Isoform 1 is highly expressed in lung, followed by leukocytes especially monocytes, lymph node, colon, brain, prostate, placenta, spleen, bone marrow an
• Sequence:

  MNFIKDNSRALIQRMGMTVIKQITDDLFVWNVLNREEVNIICCEKVEQDAARGIIHMILK
  KGSESCNLFLKSLKEWNYPLFQDLNGQSLFHQTSEGDLDDLAQDLKDLYHTPSFLNFYPL
  GEDIDIIFNLKSTFTEPVLWRKDQHHHRVEQLTLNGLLQALQSPCIIEGESGKGKSTLLQ
  RIAMLWGSGKCKALTKFKFVFFLRLSRAQGGLFETLCDQLLDIPGTIRKQTFMAMLLKLR
  QRVLFLLDGYNEFKPQNCPEIEALIKENHRFKNMVIVTTTTECLRHIRQFGALTAEVGDM
  TEDSAQALIREVLIKELAEGLLLQIQKSRCLRNLMKTPLFVVITCAIQMGESEFHSHTQT
  TLFHTFYDLLIQKNKHKHKGVAASDFIRSLDHCGDLALEGVFSHKFDFELQDVSSVNEDV
  LLTTGLLCKYTAQRFKPKYKFFHKSFQEYTAGRRLSSLLTSHEPEEVTKGNGYLQKMVSI
  SDITSTYSSLLRYTCGSSVEATRAVMKHLAAVYQHGCLLGLSIAKRPLWRQESLQSVKNT
  TEQEILKAININSFVECGIHLYQESTSKSALSQEFEAFFQGKSLYINSGNIPDYLFDFFE
  HLPNCASALDFIKLDFYGGAMASWEKAAEDTGGIHMEEAPETYIPSRAVSLFFNWKQEFR
  TLEVTLRDFSKLNKQDIRYLGKIFSSATSLRLQIKRCAGVAGSLSLVLSTCKNIYSLMVE
  ASPLTIEDERHITSVTNLKTLSIHDLQNQRLPGGLTDSLGNLKNLTKLIMDNIKMNEEDA
  IKLAEGLKNLKKMCLFHLTHLSDIGEGMDYIVKSLSSEPCDLEEIQLVSCCLSANAVKIL
  AQNLHNLVKLSILDLSENYLEKDGNEALHELIDRMNVLEQLTALMLPWGCDVQGSLSSLL
  KHLEEVPQLVKLGLKNWRLTDTEIRILGAFFGKNPLKNFQQLNLAGNRVSSDGWLAFMGV
  FENLKQLVFFDFSTKEFLPDPALVRKLSQVLSKLTFLQEARLVGWQFDDDDLSVITGAFK
  LVTA

• Sequence length: 1024

Pathways

KEGG:

NOD-like receptor signaling pathway
Shigellosis
Salmonella infection
Legionellosis
Yersinia infection

Reactome:

TP53 Regulates Transcription of Caspase Activators and Caspases
The IPAF inflammasome

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
Autoinflammatory syndrome	Likely pathogenic	rs1553347334, rs774546369	RCV002262078 RCV002262087	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cold autoinflammatory syndrome 4	Pathogenic; Likely pathogenic	rs2148942588, rs587781260, rs587777840, rs606231460, rs2466760157	RCV001730172 RCV001857479 RCV001382868 RCV000148929 RCV005227784	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome	Pathogenic; Likely pathogenic	rs587781260, rs587777840, rs606231460, rs2466760157, rs1687057544, rs2466764015, rs1057518687	RCV000144517 RCV000144518 RCV001227277 RCV005227784 RCV003126395 RCV004560171 RCV000414888 RCV001270834	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4)	Pathogenic	rs587781260	RCV000132764	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Atopic eczema	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYOPYRIN-ASSOCIATED PERIODIC SYNDROMES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENTEROCOLITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL COLD URTICARIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NLRC4-related disorder	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	25747584		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthralgia	Arthralgia	Pubtator	34248956, 34783940	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	25385754		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	31870725	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	30619348	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	36194479, 37659984	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	31133717		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	31133717	Stimulate	★☆☆☆☆ Found in Text Mining only
Asymmetric Septal Hypertrophy	Septal Hypertrophy	BEFREE	23763294		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	32276737	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	35773312	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	32802832	Associate	★☆☆☆☆ Found in Text Mining only
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS	Autoinflammation With Arthritis And Dyskeratosis	BEFREE	28387826		★☆☆☆☆ Found in Text Mining only
AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS	Autoinflammation With Enterocolitis	UNIPROT_DG	25217959, 25217960		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS	Autoinflammation With Enterocolitis	ORPHANET_DG	25217959, 25217960		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS	Autoinflammation With Enterocolitis	GENOMICS_ENGLAND_DG	25385754, 27876626		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS	Autoinflammation With Enterocolitis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS	Autoinflammation With Enterocolitis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoinflammatory disorder	Autoinflammatory Disease	GENOMICS_ENGLAND_DG	27876626		★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	BEFREE	29778503, 31732958		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	30787463		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36920176	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	33923185	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	38167983	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	38167983	Stimulate	★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	30836997	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	31216943		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	Pubtator	25922834	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome	Neurological, Cutaneous And Articular Syndrome	BEFREE	27788288		★☆☆☆☆ Found in Text Mining only
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome	Neurological, Cutaneous And Articular Syndrome	ORPHANET_DG	27788288		★☆☆☆☆ Found in Text Mining only
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome	Neurological, Cutaneous And Articular Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	22318495		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	30227886	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	33793617, 34783940	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31044438		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26378020	Inhibit	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	25217959	Associate	★☆☆☆☆ Found in Text Mining only
Conjunctivitis	Conjunctivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corneal Ulcer	Corneal ulcer	Pubtator	23750216	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary stenosis	Pubtator	32276737	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	17435760		★☆☆☆☆ Found in Text Mining only
Cryopyrin-Associated Periodic Syndromes	Cryopyrin-Associated Periodic Syndromes	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Fibrosis	Cystic Fibrosis	BEFREE	26972847		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	33848452	Associate	★☆☆☆☆ Found in Text Mining only
Deficiency of mevalonate kinase	Deficiency Of Mevalonate Kinase	BEFREE	20179743		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	25385754		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	27706238		★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	30227886, 34783940	Associate	★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Enterocolitis	Enterocolitis	BEFREE	25217960, 30319625		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Enterocolitis	Enterocolitis	CTD_human_DG	25217960		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Enterocolitis	Enterocolitis	Pubtator	25217960, 30319625, 34248956, 34492165, 34783940	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Enterocolitis	Enterocolitis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exanthema	Exanthema	Pubtator	34783940	Associate	★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial Cold Autoinflammatory Syndrome 1	Cold Autoinflammatory Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4	Cold Autoinflammatory Syndrome	UNIPROT_DG	25385754		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4	Cold Autoinflammatory Syndrome	GENOMICS_ENGLAND_DG	25385754, 27876626		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4	Cold Autoinflammatory Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial cold urticaria	Cold urticaria	BEFREE	25385754, 31597739		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cold urticaria	Cold urticaria	ORPHANET_DG	25385754		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cold urticaria	Cold urticaria	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	29171506		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	31133717		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	31133717, 35216164	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36199426	Stimulate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	32802832	Associate	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	32802832	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	31732958		★☆☆☆☆ Found in Text Mining only
Hereditary Autoinflammatory Diseases	Autoinflammatory Disease	CTD_human_DG	25217959, 25217960		★☆☆☆☆ Found in Text Mining only
Hereditary Autoinflammatory Diseases	Autoinflammatory Disease	BEFREE	25385754		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	31676687		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	32802832	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	35486341	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	30195027		★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	BEFREE	28961278		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	15196924	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28011505		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	31044438		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	31751447	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	37864090	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	22235789		★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	34925545	Associate	★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis, Hemophagocytic	Lymphohistiocytosis	BEFREE	28403691, 29695416, 30557712		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrophage Activation Syndrome	Macrophage Activation Syndrome	BEFREE	25217959, 26196376, 29778503, 30319625		★☆☆☆☆ Found in Text Mining only
Macrophage Activation Syndrome	Macrophage Activation Syndrome	CTD_human_DG	25217959		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25879280, 31133717		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	15107016	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30078841		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muckle-Wells Syndrome	Muckle-Wells Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	20015095	Stimulate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	29721174		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	37837870	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	30658261		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	25586466		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21118981, 30518876		★☆☆☆☆ Found in Text Mining only
NLRC4-related familial cold autoinflammatory syndrome	Cold Autoinflammatory Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30824190, 31044438		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	30518876		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	31848028		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	31848028		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32264916, 35860692	Associate	★☆☆☆☆ Found in Text Mining only
Pseudopapilledema	Pseudopapilledema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	31952466	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Eosinophilia	Pulmonary Eosinophilia	BEFREE	28528200		★☆☆☆☆ Found in Text Mining only
Retrobulbar Neuritis	Retrobulbar Neuritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	36250055	Stimulate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	27175981		★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	38167983	Associate	★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	Pubtator	36194479	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	29915579, 32802832	Associate	★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	Pubtator	34248956	Associate	★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	Pubtator	34783940	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uveitis Posterior	Uveitis	Pubtator	32707200	Associate	★☆☆☆☆ Found in Text Mining only
X-Linked Lymphoproliferative Disorder	Lymphoproliferative Syndrome, X-Linked	BEFREE	30557712		★☆☆☆☆ Found in Text Mining only