NCF2 (neutrophil cytosolic factor 2)

Gene

• Entrez ID: 4688
• Gene name: Neutrophil cytosolic factor 2
• Gene symbol: NCF2
• Synonyms (NCBI Gene): NCF-2, NOXA2, P67-PHOX, P67PHOX
• Chromosome: 1
• Chromosome location: 1q25.3
• Summary: This gene encodes neutrophil cytosolic factor 2, the 67-kilodalton cytosolic subunit of the multi-protein NADPH oxidase complex found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome.

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs115365142	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, intron variant, coding sequence variant
rs119103274	G>A	Pathogenic	Missense variant, intron variant, coding sequence variant
rs119103275	C>T	Pathogenic	Missense variant, coding sequence variant
rs119103276	G>A,C,T	Pathogenic, benign	Stop gained, missense variant, coding sequence variant
rs137854508	G>A	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs137878529	T>C,G	Pathogenic	Missense variant, intron variant, coding sequence variant
rs143889676	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs147415774	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs267606912	T>A	Pathogenic	Intron variant, missense variant, coding sequence variant
rs374402066	G>A	Pathogenic	Coding sequence variant, stop gained
rs755796920	G>A,T	Pathogenic	Missense variant, intron variant, coding sequence variant, stop gained
rs766745748	G>A	Likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs777621636	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs796065030	->CT	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs796065031	CTTAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs796065032	C>G,T	Pathogenic	Splice donor variant
rs796065033	TTCTTGTCC>-	Pathogenic, likely-pathogenic	Coding sequence variant, inframe deletion
rs990043411	C>T	Pathogenic	Splice donor variant
rs1064794299	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1290169467	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1472146831	TCCTT>-	Pathogenic	Coding sequence variant, stop gained
rs1558092897	C>G	Likely-pathogenic	Splice donor variant
rs1558098982	T>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1572151178	G>A	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022884	hsa-miR-124-3p	Microarray	18668037
MIRT2578685	hsa-miR-136	CLIP-seq
MIRT2578686	hsa-miR-3622a-3p	CLIP-seq
MIRT2578687	hsa-miR-3622b-3p	CLIP-seq
MIRT2578688	hsa-miR-4691-5p	CLIP-seq
MIRT2578689	hsa-miR-4764-3p	CLIP-seq
MIRT2578685	hsa-miR-136	CLIP-seq
MIRT2578686	hsa-miR-3622a-3p	CLIP-seq
MIRT2578687	hsa-miR-3622b-3p	CLIP-seq
MIRT2578688	hsa-miR-4691-5p	CLIP-seq
MIRT2578689	hsa-miR-4764-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
IRF1	Activation	10570299
IRF8	Activation	10570299
MED15	Unknown	20025940
PLAGL2	Activation	17462995;20025940
SPI1	Activation	10570299
SPI1	Unknown	20025940

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0005515	Function	Protein binding	IPI	7938008, 8280052, 9365277, 11483497, 11733522, 12887891, 15591124, 15657040, 16297854, 16782902, 19129478, 21516116, 22203994, 25416956, 25910212, 26871637, 31515488, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	8280052
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	NAS	27048830
GO:0006801	Process	Superoxide metabolic process	TAS	7938008
GO:0006909	Process	Phagocytosis	IEA
GO:0006968	Process	Cellular defense response	TAS	1692159
GO:0009055	Function	Electron transfer activity	TAS	1692159
GO:0016020	Component	Membrane	IDA	8280052
GO:0016175	Function	Superoxide-generating NAD(P)H oxidase activity	IEA
GO:0016176	Function	Superoxide-generating NADPH oxidase activator activity	IBA
GO:0016176	Function	Superoxide-generating NADPH oxidase activator activity	IEA
GO:0016176	Function	Superoxide-generating NADPH oxidase activator activity	IMP	8280052
GO:0031267	Function	Small GTPase binding	IEA
GO:0032010	Component	Phagolysosome	TAS
GO:0042554	Process	Superoxide anion generation	IBA
GO:0042554	Process	Superoxide anion generation	IDA	38355798
GO:0042554	Process	Superoxide anion generation	IEA
GO:0042554	Process	Superoxide anion generation	IMP	8280052
GO:0042554	Process	Superoxide anion generation	TAS	7938008
GO:0043020	Component	NADPH oxidase complex	IDA	8280052, 38355798
GO:0043020	Component	NADPH oxidase complex	IEA
GO:0043020	Component	NADPH oxidase complex	NAS	24598074
GO:0043020	Component	NADPH oxidase complex	TAS	7938008
GO:0045087	Process	Innate immune response	TAS	7938008
GO:0045730	Process	Respiratory burst	IEA
GO:0045730	Process	Respiratory burst	NAS	27048830
GO:0045730	Process	Respiratory burst	TAS	7938008

Other IDs

• MIM: 608515
• HGNC: 7661
• e!Ensembl: ENSG00000116701

Protein

• UniProt ID: P19878
• Protein name: Neutrophil cytosol factor 2 (NCF-2) (67 kDa neutrophil oxidase factor) (NADPH oxidase activator 2) (Neutrophil NADPH oxidase factor 2) (p67-phox)
• Protein function: Subunit of the phagocyte NADPH oxidase complex that mediates the transfer of electrons from cytosolic NADPH to O2 to produce the superoxide anion (O2(-)) (PubMed:12207919, PubMed:38355798). In the activated complex, electrons are first transferr
• PDB: 1E96, 1HH8, 1K4U, 1OEY, 1WM5, 2DMO, 8WEJ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13181	TPR_8	37 → 69	Tetratricopeptide repeat	Repeat
  PF00018	SH3_1	246 → 291	SH3 domain	Domain
  PF00564	PB1	351 → 429	PB1 domain	Domain
  PF00018	SH3_1	463 → 508	SH3 domain	Domain

• Sequence:

  MSLVEAISLWNEGVLAADKKDWKGALDAFSAVQDPHSRICFNIGCMYTILKNMTEAEKAF
  TRSINRDKHLAVAYFQRGMLYYQTEKYDLAIKDLKEALIQLRGNQLIDYKILGLQFKLFA
  CEVLYNIAFMYAKKEEWKKAEEQLALATSMKSEPRHSKIDKAMECVWKQKLYEPVVIPVG
  KLFRPNERQVAQLAKKDYLGKATVVASVVDQDSFSGFAPLQPQAAEPPPRPKTPEIFRAL
  EGEAHRVLFGFVPETKEELQVMPGNIVFVLKKGNDNWATVMFNGQKGLVPCNYLEPVELR
  IHPQQQPQEESSPQSDIPAPPSSKAPGRPQLSPGQKQKEEPKEVKLSVPMPYTLKVHYKY
  TVVMKTQPGLPYSQVRDMVSKKLELRLEHTKLSYRPRDSNELVPLSEDSMKDAWGQVKNY
  CLTLWCENTVGDQGFPDEPKESEKADANNQTTEPQLKKGSQVEALFSYEATQPEDLEFQE
  GDIILVLSKVNEEWLEGECKGKVGIFPKVFVEDCATTDLESTRREV

• Sequence length: 526

Pathways

KEGG:

Phagosome
Osteoclast differentiation
Neutrophil extracellular trap formation
Leukocyte transendothelial migration
Prion disease
Leishmaniasis
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy
Lipid and atherosclerosis
Fluid shear stress and atherosclerosis

Reactome:

ROS and RNS production in phagocytes
Cross-presentation of particulate exogenous antigens (phagosomes)
Detoxification of Reactive Oxygen Species
VEGFA-VEGFR2 Pathway
RHO GTPases Activate NADPH Oxidases

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
Chronic granulomatous disease	Likely pathogenic; Pathogenic	rs2102875639, rs2527964515, rs2527963676, rs2527910800, rs752901695, rs749606885, rs2527946248, rs137854508	RCV002223034 RCV003155833 RCV003226674 RCV003331828 RCV005240820 RCV004701817 RCV003988500 RCV004586536	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colon adenocarcinoma	Pathogenic	rs763317358	RCV005922455	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer	Likely pathogenic; Pathogenic	rs137854508	RCV005890408	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Likely pathogenic; Pathogenic	rs759285400, rs774932046, rs763317358, rs2102898304, rs2102887348, rs2102934288, rs2102942512, rs2102903043, rs2102934597, rs1349405769, rs2102890652, rs796065030, rs374402066, rs796065031, rs796065032, rs119103276, rs796065033, rs119103274, rs2527930575, rs764314608, rs2528039666, rs2527964515, rs2527963676, rs2527910800, rs1672642650, rs2528040305, rs756393096, rs2527911236, rs2527964072, rs752901695, rs2527911315, rs2528021760, rs898012170, rs2527976811, rs1672328940, rs2527930725, rs2528021632, rs749606885, rs771126735, rs2527964759, rs990043411, rs1064794299, rs1558098982, rs1290169467, rs1558092897, rs777621636, rs766745748, rs1472146831, rs1572151178, rs137854508, rs1352107832, rs750782115	RCV001378719 RCV001390471 RCV001784717 RCV001978022 RCV001966085 RCV001987692 RCV001909878 RCV002043024 RCV001972801 RCV001888511 RCV001914597 RCV000002327 RCV000002329 RCV000002330 RCV000002331 RCV000002332 RCV000002333 RCV000002334 RCV002664194 RCV002648228 RCV002671990 RCV003497976 RCV003603153 RCV003497992 RCV003498252 RCV003498798 RCV003498140 RCV003499910 RCV003499911 RCV003499912 RCV003499379 RCV003499427 RCV003603318 RCV003603385 RCV003604740 RCV003604981 RCV003605052 RCV003603767 RCV003881640 RCV003989907 RCV001861411 RCV001865445 RCV000690026 RCV000695278 RCV000694265 RCV000702612 RCV002535792 RCV000814529 RCV000816923 RCV000059369 RCV001065930 RCV002558732	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NCF2-related disorder	Likely pathogenic	rs1672324636	RCV003403065	★★★★☆ 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
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISORDER OF MUSCULOSKELETAL SYSTEM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental and epileptic encephalopathy, 28	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE II	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOSITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyloidosis	Amyloidosis	BEFREE	26923013		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	8645957		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	20083677		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	20842512		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	17897462, 33145364	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	20083677		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	34122426, 34925641	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	35790963, 36863715	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	26272171		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	34708124, 34971477	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Chronic Granulomatous Disease	Granulomatous disease	BEFREE	10498624, 19624736		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	21119665	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36680322, 38287833	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	21944129, 34528699, 34708124	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	GWASCAT_DG	26546613		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic granulomatous disease	Granulomatous Disease	BEFREE	10498624, 10914676, 10973811, 11499676, 15577746, 16937026, 18625437, 19953534, 22138397, 22514628, 23264412, 23306776, 2393022, 24081483, 26210446, 27220316, 27222152, 27666509, 28035544, 28471497, 30506560, 7803798, 7903171, 8280052, 8781442, 8879195, 9057660, 9070911, 9129047		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chronic granulomatous disease	Granulomatous Disease	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	39647286	Stimulate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	27540973	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21944129		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	LHGDN	16293794		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	31245869		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	31245869	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Restenosis	Coronary restenosis	Pubtator	35144391	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	29454792	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	37038746	Associate	★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	19279361	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	30943218		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	31442911		★☆☆☆☆ Found in Text Mining only
Friedreich Ataxia	Friedreich Ataxia	BEFREE	27078885		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	28011901	Inhibit	★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	28011901	Associate	★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	19423540	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30972186		★☆☆☆☆ Found in Text Mining only
Granulomatosis	Granulomatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Granulomatous Disease Chronic	Granulomatous disease	Pubtator	10233905, 10498624, 10627478, 10706888, 11262407, 1332032, 19953534, 22514628, 22924696, 23264412, 23306776, 29073922, 30506560, 33717137, 33746979, 34971477, 7795241, 7803798, 7903171, 8280052, 8286749, 8639802, 8781442, 8879195, 9057660, 9129047	Associate	★☆☆☆☆ Found in Text Mining only
Granulomatous Disease Chronic	Granulomatous disease	Pubtator	33717137, 7803798, 8182143, 8286749	Inhibit	★☆☆☆☆ Found in Text Mining only
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II	Granulomatous Disease	CLINVAR_DG	10498624, 10598813, 18625437, 19624736, 20167518, 25937994		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II	Granulomatous Disease	UNIPROT_DG	10498624, 10598813, 11112388, 16937026, 18625437, 19624736, 20167518, 23910690, 8286749, 9070911		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II	Granulomatous Disease	GENOMICS_ENGLAND_DG	10498624		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II	Granulomatous Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Granulomatous Disease, Chronic, X-Linked	Granulomatous Disease	BEFREE	10233905, 30506560		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	18387435	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	31245869		★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	31245869	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	29463833	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31730933		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory abnormality of the eye	Inflammatory abnormality of the eye	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	21900546		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	21900546, 39273699	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	33174039	Associate	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	21900546		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	28471497, 29913457		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	22514628	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	22203994, 28471497		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	22046141, 22203994, 23740754, 24163247, 25795782, 26606652, 29070082, 34971477, 38442270	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	22203994, 28471497		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	19838195, 26502338, 26606652, 27399966, 28714469, 30573655		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	20842512, 22046141, 22203994, 24163247, 25795782, 26272171, 28471497		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	22203994, 28471497		★☆☆☆☆ Found in Text Mining only
Lymphadenitis	Lymphadenitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29483646		★☆☆☆☆ Found in Text Mining only
Mediastinal lymphadenopathy	Mediastinal lymphadenopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	22904171	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	31796056	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	37775746	Stimulate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	34490057	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy Central Core	Central core myopathy	Pubtator	36035208	Associate	★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	GWASCAT_DG	30573655		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	27056885	Stimulate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	27765769, 37063877	Associate	★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	37063877	Associate	★☆☆☆☆ Found in Text Mining only
Peroxisome Biogenesis Disorder, Complementation Group D	Zellweger Syndrome	BEFREE	30506560		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	22904171, 27056885	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	34122426	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	12833524		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	26546613, 30573655		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	38166692	Associate	★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	29070082	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	34971930	Inhibit	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	30943218		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29483646		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	GWASCAT_DG	30573655		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	34589136	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	21119665	Associate	★☆☆☆☆ Found in Text Mining only