NCF1 (neutrophil cytosolic factor 1)

Gene

• Entrez ID: 653361
• Gene name: Neutrophil cytosolic factor 1
• Gene symbol: NCF1
• Synonyms (NCBI Gene): CGD1, NCF-1, NCF-47K, NCF1A, NOXO2, SH3PXD1A, p47-phox, p47phox
• Chromosome: 7
• Chromosome location: 7q11.23
• Summary: The protein encoded by this gene is a 47 kDa cytosolic subunit of neutrophil NADPH oxidase. This oxidase is a multicomponent enzyme that is activated to produce superoxide anion. Mutations in this gene have been associated with chronic granulomatous disea

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs4029402	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs119103270	G>A	Pathogenic	Missense variant, coding sequence variant
rs119103271	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs119103272	T>A	Pathogenic	Coding sequence variant, stop gained
rs119103273	G>A	Pathogenic	Missense variant, coding sequence variant
rs145360423	G>A	Pathogenic	Stop gained, coding sequence variant
rs782800778	C>T	Pathogenic	Coding sequence variant, missense variant
rs886041799	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1057519503	G>A	Pathogenic	3 prime UTR variant
rs1307080411	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563003964	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1584370623	->CGAG	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1176351	hsa-miR-1908	CLIP-seq
MIRT1176352	hsa-miR-4461	CLIP-seq
MIRT1176353	hsa-miR-663	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HBP1	Repression	15024088;18258815

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001878	Process	Response to yeast	IEA
GO:0001909	Process	Leukocyte mediated cytotoxicity	IEA
GO:0002679	Process	Respiratory burst involved in defense response	IEA
GO:0005515	Function	Protein binding	IPI	8280052, 11094157, 11733522, 12681507, 12732142, 15657040, 16297854, 16326715, 16330715, 16375898, 16782902, 17803994, 19129478, 25825872, 25910212, 27040869, 30630949, 32296183, 32814053
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	2550933, 8280052, 26514923
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS	2848318
GO:0005886	Component	Plasma membrane	IDA	26514923
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	27048830
GO:0006612	Process	Protein targeting to membrane	IDA	12356722
GO:0006691	Process	Leukotriene metabolic process	IEA
GO:0006801	Process	Superoxide metabolic process	TAS	7938008
GO:0006954	Process	Inflammatory response	IEA
GO:0006968	Process	Cellular defense response	IEA
GO:0006968	Process	Cellular defense response	TAS	2848318
GO:0008289	Function	Lipid binding	IEA
GO:0009055	Function	Electron transfer activity	TAS	2848318
GO:0009617	Process	Response to bacterium	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	IDA	12356722
GO:0016020	Component	Membrane	IDA	8280052
GO:0016020	Component	Membrane	IEA
GO:0016175	Function	Superoxide-generating NAD(P)H oxidase activity	IMP	26514923
GO:0016176	Function	Superoxide-generating NADPH oxidase activator activity	IBA
GO:0016176	Function	Superoxide-generating NADPH oxidase activator activity	IEA
GO:0017124	Function	SH3 domain binding	IPI	7938008
GO:0030425	Component	Dendrite	IEA
GO:0032010	Component	Phagolysosome	TAS
GO:0035091	Function	Phosphatidylinositol binding	IDA	12356722
GO:0035091	Function	Phosphatidylinositol binding	IEA
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	2547247
GO:0042554	Process	Superoxide anion generation	TAS	7938008
GO:0042742	Process	Defense response to bacterium	IEA
GO:0043020	Component	NADPH oxidase complex	IBA
GO:0043020	Component	NADPH oxidase complex	IDA	2550933, 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:0043025	Component	Neuronal cell body	IEA
GO:0043325	Function	Phosphatidylinositol-3,4-bisphosphate binding	IDA	12356722
GO:0045087	Process	Innate immune response	TAS	7938008
GO:0045730	Process	Respiratory burst	IBA
GO:0045730	Process	Respiratory burst	IEA
GO:0045730	Process	Respiratory burst	IEA
GO:0045730	Process	Respiratory burst	NAS	27048830
GO:0045730	Process	Respiratory burst	TAS	7938008
GO:0050665	Process	Hydrogen peroxide biosynthetic process	IEA
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050830	Process	Defense response to Gram-positive bacterium	IEA
GO:0050832	Process	Defense response to fungus	IEA
GO:0060264	Process	Regulation of respiratory burst involved in inflammatory response	IEA
GO:0070946	Process	Neutrophil-mediated killing of gram-positive bacterium	IEA
GO:0070947	Process	Neutrophil-mediated killing of fungus	IEA
GO:0071333	Process	Cellular response to glucose stimulus	IEA
GO:0071394	Process	Cellular response to testosterone stimulus	IEA
GO:0072593	Process	Reactive oxygen species metabolic process	IEA
GO:1903409	Process	Reactive oxygen species biosynthetic process	IEA

Other IDs

• MIM: 608512
• HGNC: 7660
• e!Ensembl: ENSG00000158517

Protein

• UniProt ID: P14598
• Protein name: Neutrophil cytosol factor 1 (NCF-1) (47 kDa autosomal chronic granulomatous disease protein) (47 kDa neutrophil oxidase factor) (NCF-47K) (Neutrophil NADPH oxidase factor 1) (Nox organizer 2) (Nox-organizing protein 2) (SH3 and PX domain-containing protei
• 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:2547247, PubMed:2550933, PubMed:38355798). In the activated complex, electrons are
• PDB: 1GD5, 1K4U, 1KQ6, 1NG2, 1O7K, 1OV3, 1UEC, 1W70, 1WLP, 7YXW, 8WEJ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00787	PX	30 → 121	PX domain	Domain
  PF00018	SH3_1	162 → 207	SH3 domain	Domain
  PF00018	SH3_1	232 → 277	SH3 domain	Domain
  PF16621	NECFESHC	282 → 330	SH3 terminal domain of 2nd SH3 on Neutrophil cytosol factor 1	Disordered
  PF08944	p47_phox_C	358 → 390	NADPH oxidase subunit p47Phox, C terminal domain	Disordered

• Tissue specificity: TISSUE SPECIFICITY: Detected in peripheral blood monocytes and neutrophils (at protein level). {ECO:0000269|PubMed:2547247, ECO:0000269|PubMed:2550933}.
• Sequence:

  MGDTFIRHIALLGFEKRFVPSQHYVYMFLVKWQDLSEKVVYRRFTEIYEFHKTLKEMFPI
  EAGAINPENRIIPHLPAPKWFDGQRAAENRQGTLTEYCSTLMSLPTKISRCPHLLDFFKV
  RPDDLKLPTDNQTKKPETYLMPKDGKSTATDITGPIILQTYRAIANYEKTSGSEMALSTG
  DVVEVVEKSESGWWFCQMKAKRGWIPASFLEPLDSPDETEDPEPNYAGEPYVAIKAYTAV
  EGDEVSLLEGEAVEVIHKLLDGWWVIRKDDVTGYFPSMYLQKSGQDVSQAQRQIKRGAPP
  RRSSIRNAHSIHQRSRKRLSQDAYRRNSVRFLQQRRRQARPGPQSPGSPLEEERQTQRSK
  PQPAVPPRPSADLILNRCSESTKRKLASAV

• Sequence length: 390

Pathways

KEGG:

Chemokine signaling pathway
Phagosome
Osteoclast differentiation
Neutrophil extracellular trap formation
Fc gamma R-mediated phagocytosis
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	rs145360423	RCV002298619	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1	Pathogenic; Likely pathogenic	rs4029402, rs1563003964, rs119103270, rs1307080411, rs119103271, rs119103272, rs119103273, rs145360423, rs782800778, rs1584370623	RCV000002337 RCV000002338 RCV000002339 RCV000002340 RCV000002341 RCV000002342 RCV000002343 RCV000763595 RCV001283823 RCV004760786	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Granulomatous disease, chronic, X-linked	Pathogenic	rs4029402	RCV002283438	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic cardiomyopathy 4	Pathogenic	rs1057519503	RCV000416494	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AORTIC ANEURYSM, ABDOMINAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERTROPHIC CARDIOMYOPATHY TYPE 4	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE I	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCHOLESTEROLEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRACRANIAL ANEURYSM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SICCA SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SJOGREN'S SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SJOGRENS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WILLIAMS SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	30570341		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	BEFREE	30570341		★☆☆☆☆ Found in Text Mining only
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	12225397		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	31254567		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	29867918		★☆☆☆☆ Found in Text Mining only
Androgen Insensitivity Syndrome	Androgen insensitivity syndrome	Pubtator	30506560	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	17654682		★☆☆☆☆ Found in Text Mining only
Aneurysm, Anterior Cerebral Artery	Intracranial Aneurysm	CTD_human_DG	19381132		★☆☆☆☆ Found in Text Mining only
Aneurysm, Anterior Communicating Artery	Intracranial Aneurysm	CTD_human_DG	19381132		★☆☆☆☆ Found in Text Mining only
Aneurysm, Basilar Artery	Intracranial Aneurysm	CTD_human_DG	19381132		★☆☆☆☆ Found in Text Mining only
Aneurysm, Middle Cerebral Artery	Cerebral Artery Aneurysm	CTD_human_DG	19381132		★☆☆☆☆ Found in Text Mining only
Aneurysm, Posterior Cerebral Artery	Cerebral Artery Aneurysm	CTD_human_DG	19381132		★☆☆☆☆ Found in Text Mining only
Aneurysm, Posterior Communicating Artery	Posterior communicating artery aneurysm	CTD_human_DG	19381132		★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid syndrome	Pubtator	37243946	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	CTD_human_DG	16864727		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	27912196		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	8645957		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	20041773, 26054376		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	12869136, 15310853, 16724810, 17897462, 18576344, 19052348, 19066175, 20686129, 20861446, 21275845, 21728841, 23911657, 25689796, 25867281, 28467721, 29127146		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	17897462	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	28135245, 31705128, 33892719	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	20041773, 26054376		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	23916928	Stimulate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	12869136, 18780954, 19077231, 21275845, 22865047, 28135245, 28467721, 29526808		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	19077231, 28135245, 33892719, 33903979, 34708124, 36263058	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Chronic Granulomatous Disease	Granulomatous disease	BEFREE	10706888, 11698128, 2547247, 30963593		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	28482291		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	22139798		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	30260475		★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	11213802		★☆☆☆☆ Found in Text Mining only
Brain Aneurysm	Brain Aneurysm	CTD_human_DG	19381132		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34708124	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	23386289		★☆☆☆☆ Found in Text Mining only
Cerebral Aneurysm	Cerebral Aneurysm	CTD_human_DG	19381132		★☆☆☆☆ Found in Text Mining only
Chronic granulomatous disease	Granulomatous Disease	BEFREE	10081502, 10452961, 10627478, 10706888, 10772875, 10910929, 11166463, 11213802, 11920901, 12176908, 12589359, 1313715, 1325210, 14499268, 15179325, 15626894, 16123991, 16847341, 16937026, 16972229, 18625437, 18780954, 19329991, 19663600, 20407811, 20445581, 20511543, 20861446, 22138397, 23306776, 23386289, 23393912, 23489116, 23688784, 23826567, 23910690, 2393022, 24081483, 24276928, 25239440, 26340429, 26460255, 27222152, 27666509, 27699571, 28224353, 28287132, 29411231, 29947158, 30506560, 31349119, 31773990, 7541496, 7606005, 7678602, 7803798, 7938008, 8147881, 8182143, 8395049, 8975873, 9054662, 9116268, 9329953, 9342375, 9433384, 9856484		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chronic granulomatous disease	Granulomatous Disease	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chronic granulomatous disease	Granulomatous Disease	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chronic Kidney Diseases	Kidney Disease	BEFREE	28396118		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	23975181		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	11696587, 27044504, 28191009, 29867918		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28191009		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25613817	Associate	★☆☆☆☆ Found in Text Mining only
Complement Component 6 Deficiency	Complement component deficiency	Pubtator	1325210	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	23553616		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	15290662		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	29454792	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	17122966		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	15777779, 29195137		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	15777779, 29195137, 29490306		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes Mellitus	CTD_human_DG	23723366		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	21813271	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	31118934		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	22780425		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	17665974		★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	19279361	Associate	★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	LHGDN	18523147		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	18523147	Associate	★☆☆☆☆ Found in Text Mining only
Ectodermal dysplasia, hypohidrotic, with immune deficiency	Ectodermal Dysplasia	BEFREE	18523147		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Enthesitis	Enthesitis	BEFREE	30045841		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	16532385	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Hypertrophic Cardiomyopathy Type 4	Hypertrophic cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver Disease	Fatty Liver	BEFREE	31705800		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	31442911		★☆☆☆☆ Found in Text Mining only
Giant Intracranial Aneurysm	Giant Intracranial Aneurysm	CTD_human_DG	19381132		★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Granulomatosis	Granulomatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Granulomatous Disease Chronic	Granulomatous disease	Pubtator	10233905, 10627478, 10706888, 11133775, 11166463, 11698128, 12176908, 1313715, 1325210, 1332032, 18780954, 20133696, 22924696, 23306776, 23393912, 23688784, 28287132, 30506560, 30651282, 30963593, 31773990, 33717137, 33746979, 33892719, 34804071, 35842407, 36165847, 7606005, 7678602, 7803798, 8163676, 9129047, 9329953	Associate	★☆☆☆☆ Found in Text Mining only
Granulomatous Disease Chronic	Granulomatous disease	Pubtator	30651282, 8182143	Inhibit	★☆☆☆☆ Found in Text Mining only
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I	Granulomatous Disease	GENOMICS_ENGLAND_DG	10706888, 11133775		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I	Granulomatous Disease	UNIPROT_DG	11133775, 23910690		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I	Granulomatous Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I	Granulomatous Disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III	Granulomatous Disease	CLINVAR_DG	24446915		★☆☆☆☆ Found in Text Mining only
Granulomatous Disease, Chronic, X-Linked	Granulomatous Disease	BEFREE	10233905, 19329991, 23393912, 27699571, 30506560, 9851826		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Headache	Headache	Pubtator	33892719	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	23553616		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	24376854	Inhibit	★☆☆☆☆ Found in Text Mining only
Hyper-IgM Immunodeficiency Syndrome, Type 1	Hyper-IgM Immunodeficiency Syndrome	BEFREE	11213802		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	CTD_human_DG	14871415		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperglycemia	Hyperglycemia	BEFREE	31671427		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	16532385, 23340515	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	16331104, 17324946, 19018797		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	16532385, 22049077, 22319452, 23340515, 23467347		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoxia	Hypoxia	Pubtator	33892719	Associate	★☆☆☆☆ Found in Text Mining only
IgA Deficiency	Selective immunoglobulin a deficiency	Pubtator	18780954	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	35482138	Associate	★☆☆☆☆ 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	15626894		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	CTD_human_DG	19381132		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Calculi	Kidney stone	BEFREE	24165691		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	24787605		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	CTD_human_DG	19420110		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	28287132	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	30570341		★☆☆☆☆ Found in Text Mining only
Libman-Sacks Disease	Nonbacterial verrucal endocardiosis	CTD_human_DG	28135245		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	28224353		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Discoid	Discoid lupus erythematosus	Pubtator	23393912	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	28135245, 31705128, 33892719, 38442270	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	24787605, 28135245, 28515366, 28606963, 31303528, 31704719, 31705128		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	CTD_human_DG	28135245		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphadenitis	Lymphadenitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	24376854		★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	23682737		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19431059		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28191009		★☆☆☆☆ Found in Text Mining only
Mediastinal lymphadenopathy	Mediastinal lymphadenopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse	Mitral valve prolapse	Pubtator	37180137	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	15310853, 19077231		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	LHGDN	19077231		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	22366799	Associate	★☆☆☆☆ Found in Text Mining only
Mycotic Aneurysm, Intracranial	Mycotic Aneurysm, Intracranial	CTD_human_DG	19381132		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	23975181		★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorders	Myeloproliferative disorder	Pubtator	23975181	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19431059, 21506107, 23167961, 28191009		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	24165691		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	29660503, 29693586		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	17242275, 31298704		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	27765769	Associate	★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	BEFREE	9433384		★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	27829407		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	27829407		★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peroxisome Biogenesis Disorder, Complementation Group D	Zellweger Syndrome	BEFREE	19329991, 23393912, 27699571, 30506560		★☆☆☆☆ Found in Text Mining only
Phenylketonurias	Phenylketonuria	BEFREE	25256805		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	31298704		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	31298704	Stimulate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	23682737		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	27555763	Associate	★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	29183727		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	23393912	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	12833524, 28135245		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	16724810, 17122966, 21728841, 26683156, 29183727		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcopenia	Sarcopenia	Pubtator	40081680	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	31705128	Associate	★☆☆☆☆ Found in Text Mining only
Selective immunoglobulin A deficiency	Selective Immunoglobulin A Deficiency	BEFREE	18780954		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	22547702, 30465301		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	11213802		★☆☆☆☆ Found in Text Mining only
Sicca Syndrome	Sjogren`s Syndrome	CTD_human_DG	28135245		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	28135245, 31705128, 33892719	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sjogren`s Syndrome	Sjogren`s Syndrome	CTD_human_DG	28135245		★☆☆☆☆ Found in Text Mining only
SVEINSSON CHORIORETINAL ATROPHY	Sveinsson Chorioretinal Atrophy	BEFREE	26319153		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	31705128		★☆☆☆☆ Found in Text Mining only
Van der Woude syndrome	Van Der Woude Syndrome	BEFREE	31026554		★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams Syndrome	BEFREE	11827466, 16532385, 22319452, 23340515, 24126171		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Williams Syndrome	Williams syndrome	Pubtator	16532385, 23340515, 24126171, 34804071	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked agammaglobulinemia	Agammaglobulinemia, X-Linked	BEFREE	11213802		★☆☆☆☆ Found in Text Mining only
X-Linked Lymphoproliferative Disorder	Lymphoproliferative Syndrome, X-Linked	BEFREE	11213802		★☆☆☆☆ Found in Text Mining only
ZAP70 deficiency	ZAP70 Deficiency	BEFREE	11213802		★☆☆☆☆ Found in Text Mining only