NFKBIA (NFKB inhibitor alpha)

Gene

• Entrez ID: 4792
• Gene name: NFKB inhibitor alpha
• Gene symbol: NFKBIA
• Synonyms (NCBI Gene): EDAID2, IKBA, MAD-3, NFKBI
• Chromosome: 14
• Chromosome location: 14q13.2
• Summary: This gene encodes a member of the NF-kappa-B inhibitor family, which contain multiple ankrin repeat domains. The encoded protein interacts with REL dimers to inhibit NF-kappa-B/REL complexes which are involved in inflammatory responses. The encoded protei

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28933100	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs121913664	C>T	Pathogenic	Stop gained, coding sequence variant
rs121913665	C>A	Pathogenic	Stop gained, coding sequence variant
rs142195196	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs886041411	G>A	Pathogenic	Coding sequence variant, stop gained
rs1555342918	C>T	Pathogenic	Stop gained, coding sequence variant
rs1566591073	A>C,T	Pathogenic	Coding sequence variant, missense variant
rs1566591076	G>T	Pathogenic	Coding sequence variant, missense variant
rs1566591082	G>A,C	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs1566591086	T>C	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003202	kshv-miR-K12-1-5p	Luciferase reporter assay, Western blot	20081837
MIRT003202	kshv-miR-K12-1-5p	Luciferase reporter assay, Western blot	20081837
MIRT006695	hsa-miR-30e-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	22156201
MIRT006695	hsa-miR-30e-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	22156201
MIRT017719	hsa-miR-335-5p	Microarray	18185580
MIRT030500	hsa-miR-24-3p	Microarray	19748357
MIRT052129	hsa-let-7b-5p	CLASH	23622248
MIRT437422	hsa-miR-196a-5p	BxPC-3 and SW1990"	24504166
MIRT437422	hsa-miR-196a-5p	BxPC-3 and SW1990"	24504166
MIRT438759	hsa-miR-126-3p	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	23285182
MIRT438759	hsa-miR-126-3p	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	23285182
MIRT440119	ebv-miR-BART7-3p	HITS-CLIP	22473208
MIRT440119	ebv-miR-BART7-3p	HITS-CLIP	22473208
MIRT437422	hsa-miR-196a-5p	BxPC-3 and SW1990"	24504166
MIRT736434	hsa-miR-491-3p	qRT-PCR, Flow cytometry	33679688
MIRT736434	hsa-miR-491-3p	qRT-PCR, Flow cytometry	33679688
MIRT437422	hsa-miR-196a-5p	Luciferase reporter assay	35655924
MIRT1183481	hsa-miR-1283	CLIP-seq
MIRT1183482	hsa-miR-129-5p	CLIP-seq
MIRT1183483	hsa-miR-140-3p	CLIP-seq
MIRT1183484	hsa-miR-141	CLIP-seq
MIRT1183485	hsa-miR-196a	CLIP-seq
MIRT1183486	hsa-miR-196b	CLIP-seq
MIRT1183487	hsa-miR-200a	CLIP-seq
MIRT1183488	hsa-miR-2116	CLIP-seq
MIRT1183489	hsa-miR-300	CLIP-seq
MIRT1183490	hsa-miR-3064-5p	CLIP-seq
MIRT1183491	hsa-miR-3065-5p	CLIP-seq
MIRT1183492	hsa-miR-323-3p	CLIP-seq
MIRT1183493	hsa-miR-3616-3p	CLIP-seq
MIRT1183494	hsa-miR-3662	CLIP-seq
MIRT1183495	hsa-miR-381	CLIP-seq
MIRT1183496	hsa-miR-3924	CLIP-seq
MIRT1183497	hsa-miR-4420	CLIP-seq
MIRT1183498	hsa-miR-4446-3p	CLIP-seq
MIRT1183499	hsa-miR-4459	CLIP-seq
MIRT1183500	hsa-miR-4656	CLIP-seq
MIRT1183501	hsa-miR-4666-3p	CLIP-seq
MIRT1183502	hsa-miR-4666-5p	CLIP-seq
MIRT1183503	hsa-miR-4677-5p	CLIP-seq
MIRT1183504	hsa-miR-4687-3p	CLIP-seq
MIRT1183505	hsa-miR-4698	CLIP-seq
MIRT1183506	hsa-miR-4700-3p	CLIP-seq
MIRT1183507	hsa-miR-4716-5p	CLIP-seq
MIRT1183508	hsa-miR-4719	CLIP-seq
MIRT1183509	hsa-miR-4721	CLIP-seq
MIRT1183510	hsa-miR-4724-5p	CLIP-seq
MIRT1183511	hsa-miR-4779	CLIP-seq
MIRT1183512	hsa-miR-4804-3p	CLIP-seq
MIRT1183513	hsa-miR-483-3p	CLIP-seq
MIRT1183514	hsa-miR-499-3p	CLIP-seq
MIRT1183515	hsa-miR-499a-3p	CLIP-seq
MIRT1183516	hsa-miR-5095	CLIP-seq
MIRT1183517	hsa-miR-5096	CLIP-seq
MIRT1183518	hsa-miR-513a-5p	CLIP-seq
MIRT1183519	hsa-miR-513b	CLIP-seq
MIRT1183520	hsa-miR-548c-3p	CLIP-seq
MIRT1183521	hsa-miR-548k	CLIP-seq
MIRT1183522	hsa-miR-548n	CLIP-seq
MIRT1183523	hsa-miR-548t	CLIP-seq
MIRT1183524	hsa-miR-802	CLIP-seq
MIRT1183484	hsa-miR-141	CLIP-seq
MIRT1183485	hsa-miR-196a	CLIP-seq
MIRT1183486	hsa-miR-196b	CLIP-seq
MIRT1183487	hsa-miR-200a	CLIP-seq
MIRT1183490	hsa-miR-3064-5p	CLIP-seq
MIRT1183496	hsa-miR-3924	CLIP-seq
MIRT1183497	hsa-miR-4420	CLIP-seq
MIRT1183499	hsa-miR-4459	CLIP-seq
MIRT1183502	hsa-miR-4666-5p	CLIP-seq
MIRT1183504	hsa-miR-4687-3p	CLIP-seq
MIRT1183506	hsa-miR-4700-3p	CLIP-seq
MIRT1183510	hsa-miR-4724-5p	CLIP-seq
MIRT1183511	hsa-miR-4779	CLIP-seq
MIRT1183512	hsa-miR-4804-3p	CLIP-seq
MIRT1183513	hsa-miR-483-3p	CLIP-seq
MIRT1183514	hsa-miR-499-3p	CLIP-seq
MIRT1183515	hsa-miR-499a-3p	CLIP-seq
MIRT1183516	hsa-miR-5095	CLIP-seq
MIRT1183517	hsa-miR-5096	CLIP-seq
MIRT1183518	hsa-miR-513a-5p	CLIP-seq
MIRT2053177	hsa-miR-615-5p	CLIP-seq
MIRT1183524	hsa-miR-802	CLIP-seq
MIRT1183481	hsa-miR-1283	CLIP-seq
MIRT1183492	hsa-miR-323-3p	CLIP-seq
MIRT1183496	hsa-miR-3924	CLIP-seq
MIRT1183499	hsa-miR-4459	CLIP-seq
MIRT1183506	hsa-miR-4700-3p	CLIP-seq
MIRT2282473	hsa-miR-4704-3p	CLIP-seq
MIRT1183511	hsa-miR-4779	CLIP-seq
MIRT1183516	hsa-miR-5095	CLIP-seq
MIRT1183518	hsa-miR-513a-5p	CLIP-seq
MIRT2053177	hsa-miR-615-5p	CLIP-seq
MIRT2282474	hsa-miR-668	CLIP-seq
MIRT2282473	hsa-miR-4704-3p	CLIP-seq
MIRT1183518	hsa-miR-513a-5p	CLIP-seq
MIRT2053177	hsa-miR-615-5p	CLIP-seq
MIRT2282474	hsa-miR-668	CLIP-seq
MIRT2282473	hsa-miR-4704-3p	CLIP-seq
MIRT1183518	hsa-miR-513a-5p	CLIP-seq
MIRT2053177	hsa-miR-615-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NFKB1	Activation	12885753
NFKB1	Repression	11744993
NFKB1	Unknown	10454561;15499023;17876798
PPARA	Activation	14976045
PPARA	Unknown	11981037
RELA	Activation	12885753
RELA	Repression	11744993
RELA	Unknown	15499023;17876798

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	16938301
GO:0002376	Process	Immune system process	IEA
GO:0005515	Function	Protein binding	IPI	9452483, 9520446, 9865693, 10498867, 10733566, 12482991, 12486103, 12656673, 12730857, 14685242, 14743216, 15601829, 15799966, 16126728, 16195219, 16286467, 16319058, 16365431, 16683270, 16951195, 17003112, 17301240, 17318178, 17612295, 18045535, 18539148, 18632959, 18922877, 190083
GO:0005634	Component	Nucleus	IDA	7679069, 16648481
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	1493333
GO:0005737	Component	Cytoplasm	IDA	3140380
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	34721373
GO:0006606	Process	Protein import into nucleus	IDA	32290222
GO:0006606	Process	Protein import into nucleus	IEA
GO:0006954	Process	Inflammatory response	IDA	10748004
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007249	Process	Canonical NF-kappaB signal transduction	IDA	1406630, 12048232, 34721373
GO:0007249	Process	Canonical NF-kappaB signal transduction	IDA	1493333, 25038658
GO:0008139	Function	Nuclear localization sequence binding	IPI	1493333
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010745	Process	Negative regulation of macrophage derived foam cell differentiation	IMP	16938301
GO:0010888	Process	Negative regulation of lipid storage	IMP	16938301
GO:0019899	Function	Enzyme binding	IPI	16648481
GO:0023019	Process	Signal transduction involved in regulation of gene expression	IDA	1406630, 34721373
GO:0023019	Process	Signal transduction involved in regulation of gene expression	IDA	25038658
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	9859996
GO:0031663	Process	Lipopolysaccharide-mediated signaling pathway	IEA
GO:0032088	Process	Negative regulation of NF-kappaB transcription factor activity	IDA	11931770
GO:0032375	Process	Negative regulation of cholesterol transport	IMP	16938301
GO:0032495	Process	Response to muramyl dipeptide	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IDA	25038658
GO:0033256	Component	I-kappaB/NF-kappaB complex	IMP	16938301
GO:0034142	Process	Toll-like receptor 4 signaling pathway	IDA	25355951
GO:0034142	Process	Toll-like receptor 4 signaling pathway	IDA	7479976
GO:0034142	Process	Toll-like receptor 4 signaling pathway	IEA
GO:0035994	Process	Response to muscle stretch	IEA
GO:0038061	Process	Non-canonical NF-kappaB signal transduction	IDA	8413223, 12048232
GO:0038061	Process	Non-canonical NF-kappaB signal transduction	IDA	1493333, 25038658
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042308	Process	Negative regulation of protein import into nucleus	IMP	16938301
GO:0042802	Function	Identical protein binding	IPI	16951195
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IBA
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IDA	1493333, 25038658
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IEA
GO:0043330	Process	Response to exogenous dsRNA	IEA
GO:0045638	Process	Negative regulation of myeloid cell differentiation	IEA
GO:0045746	Process	Negative regulation of Notch signaling pathway	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	23729669
GO:0050729	Process	Positive regulation of inflammatory response	IDA	25038658
GO:0050853	Process	B cell receptor signaling pathway	IEA
GO:0051059	Function	NF-kappaB binding	IBA
GO:0051059	Function	NF-kappaB binding	IDA	7628694, 7796813, 7878466, 11931770
GO:0051059	Function	NF-kappaB binding	IPI	7739562, 10353611
GO:0060261	Process	Positive regulation of transcription initiation by RNA polymerase II	IEA
GO:0070417	Process	Cellular response to cold	NAS	16750872
GO:0070427	Process	Nucleotide-binding oligomerization domain containing 1 signaling pathway	IEA
GO:0070431	Process	Nucleotide-binding oligomerization domain containing 2 signaling pathway	IEA
GO:0070498	Process	Interleukin-1-mediated signaling pathway	IMP	26020802
GO:0071345	Process	Cellular response to cytokine stimulus	IEA
GO:0071356	Process	Cellular response to tumor necrosis factor	IEA
GO:0140311	Function	Protein sequestering activity	IBA
GO:0140311	Function	Protein sequestering activity	IDA	1493333, 7628694, 7796813
GO:0140311	Function	Protein sequestering activity	IMP	16938301
GO:0140311	Function	Protein sequestering activity	TAS	9865694
GO:0140416	Function	Transcription regulator inhibitor activity	IEA
GO:0140416	Function	Transcription regulator inhibitor activity	IMP	16938301
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	IDA	16968406
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	IDA	16968406

Other IDs

• MIM: 164008
• HGNC: 7797
• e!Ensembl: ENSG00000100906

Protein

• UniProt ID: P25963
• Protein name: NF-kappa-B inhibitor alpha (I-kappa-B-alpha) (IkB-alpha) (IkappaBalpha) (Major histocompatibility complex enhancer-binding protein MAD3)
• Protein function: Inhibits the activity of dimeric NF-kappa-B/REL complexes by trapping REL (RELA/p65 and NFKB1/p50) dimers in the cytoplasm by masking their nuclear localization signals (PubMed:1493333, PubMed:36651806, PubMed:7479976). On cellular stimulation b
• PDB: 1IKN, 1NFI, 6TTU, 6Y1J
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00023	Ank	111 → 142	Ankyrin repeat	Repeat
  PF00023	Ank	143 → 175	Ankyrin repeat	Repeat
  PF00023	Ank	182 → 213	Ankyrin repeat	Repeat
  PF00023	Ank	216 → 248	Ankyrin repeat	Repeat

• Sequence:

  MFQAAERPQEWAMEGPRDGLKKERLLDDRHDSGLDSMKDEEYEQMVKELQEIRLEPQEVP
  RGSEPWKQQLTEDGDSFLHLAIIHEEKALTMEVIRQVKGDLAFLNFQNNLQQTPLHLAVI
  TNQPEIAEALLGAGCDPELRDFRGNTPLHLACEQGCLASVGVLTQSCTTPHLHSILKATN
  YNGHTCLHLASIHGYLGIVELLVSLGADVNAQEPCNGRTALHLAVDLQNPDLVSLLLKCG
  ADVNRVTYQGYSPYQLTWGRPSTRIQQQLGQLTLENLQMLPESEDEESYDTESEFTEFTE
  DELPYDDCVFGGQRLTL

• Sequence length: 317

Pathways

KEGG:

cAMP signaling pathway
Chemokine signaling pathway
NF-kappa B signaling pathway
Apoptosis
Osteoclast differentiation
Toll-like receptor signaling pathway
NOD-like receptor signaling pathway
RIG-I-like receptor signaling pathway
Cytosolic DNA-sensing pathway
C-type lectin receptor signaling pathway
IL-17 signaling pathway
Th1 and Th2 cell differentiation
Th17 cell differentiation
T cell receptor signaling pathway
B cell receptor signaling pathway
TNF signaling pathway
Neurotrophin signaling pathway
Adipocytokine signaling pathway
Relaxin signaling pathway
Insulin resistance
Alcoholic liver disease
Epithelial cell signaling in Helicobacter pylori infection
Pathogenic Escherichia coli infection
Shigellosis
Salmonella infection
Legionellosis
Yersinia infection
Leishmaniasis
Chagas disease
Toxoplasmosis
Hepatitis C
Hepatitis B
Measles
Human cytomegalovirus infection
Influenza A
Human T-cell leukemia virus 1 infection
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
Coronavirus disease - COVID-19
Pathways in cancer
Viral carcinogenesis
Chemical carcinogenesis - reactive oxygen species
Prostate cancer
Chronic myeloid leukemia
Small cell lung cancer
PD-L1 expression and PD-1 checkpoint pathway in cancer
Lipid and atherosclerosis

Reactome:

Activation of NF-kappaB in B cells
RIP-mediated NFkB activation via ZBP1
Downstream TCR signaling
NF-kB is activated and signals survival
FCERI mediated NF-kB activation
TAK1 activates NFkB by phosphorylation and activation of IKKs complex
SUMOylation of immune response proteins
IkBA variant leads to EDA-ID
CLEC7A (Dectin-1) signaling
Ub-specific processing proteases
Interleukin-1 signaling
TRAF6 mediated NF-kB activation

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Ectodermal dysplasia and immunodeficiency 2	Pathogenic	rs886041411, rs2502188897, rs2502188602, rs28933100, rs121913665, rs1566591076, rs1566591086, rs1566591082	RCV005090329 RCV003325300 RCV003330336 RCV000015040 RCV000015042 RCV000721149 RCV000721150 RCV000721151 RCV000721152

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Conflicting classifications of pathogenicity; Benign; Likely benign	rs371120371, rs2233418	RCV005911116 RCV005893260
Adrenocortical carcinoma, hereditary	Benign; Likely benign	rs2233418	RCV005893263
Cervical cancer	Benign; Likely benign	rs2233418	RCV005893264
Cholangiocarcinoma	Benign	rs2233417	RCV005921520
Clear cell carcinoma of kidney	Benign; Likely benign	rs2233418	RCV005893265
Colon adenocarcinoma	Benign; Likely benign	rs2233418	RCV005893259
Colorectal cancer	Benign; Likely benign	rs2233418	RCV005893266
Familial cancer of breast	Benign; Likely benign	rs2233418	RCV005893258
Gastric cancer	Benign; Likely benign	rs2233418	RCV005893268
Inherited Immunodeficiency Diseases	Conflicting classifications of pathogenicity	rs121913664	RCV001027609
Lung cancer	Benign; Likely benign	rs2233418	RCV005893272
Malignant tumor of esophagus	Benign; Likely benign	rs2233418	RCV005893261
Melanoma	Benign; Likely benign	rs2233418	RCV005893271
NFKBIA-related disorder	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance; Benign	rs772630322, rs757465465, rs751513869, rs2502189029, rs779399614, rs148656104, rs746328671, rs146132589, rs763076696	RCV003893250 RCV003903473 RCV003418399 RCV003419111 RCV004731556 RCV003972336 RCV003962108 RCV003902982 RCV003918691
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs2233418	RCV005893262
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs2233418	RCV005893269
Prostate cancer	Likely benign	rs2138831226	RCV001523782
Sarcoma	Benign; Likely benign	rs2233418	RCV005893267
Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance	rs2052769679	RCV001250482
Uterine carcinosarcoma	Benign; Likely benign	rs2233418	RCV005893270
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs2233418	RCV005893273

Associations from Text Mining
Disease Name	Relationship Type	References
Acquired Immunodeficiency Syndrome	Associate	17942396
Acute Kidney Injury	Associate	26477820, 30429237
Acute Kidney Injury	Inhibit	30429237
Adenocarcinoma	Inhibit	23439505
Adenocarcinoma of Lung	Associate	23439505
Alzheimer Disease	Stimulate	31984950
Alzheimer Disease	Associate	37759083
Amyotrophic lateral sclerosis 1	Associate	12437573
Aneurysm Ruptured	Associate	33990177
Angina Stable	Associate	26075620
Arthritis Infectious	Associate	20740673
Arthritis Juvenile	Associate	37445800, 38001449
Arthritis Psoriatic	Associate	20953189, 22298274, 30176044, 31815120
Arthritis Psoriatic	Inhibit	39991156
Arthritis Rheumatoid	Associate	30897288, 31338093, 32584515, 32723749, 32972460
Asthma	Associate	23126502, 27420950
Atherosclerosis	Associate	28672844, 29512862, 33282009, 7775482
Autoimmune Diseases	Associate	32231389
Bacterial Infections	Associate	14523047
Barrett Esophagus	Associate	17403674
Behcet Syndrome	Associate	20164548, 25367031, 36333776
Brain Neoplasms	Inhibit	36007522
Breast Neoplasms	Associate	10373501, 18483177, 23892407, 25670016, 34197030, 35441810, 35999846, 37377974, 37584152, 40715365, 8995233, 9681829
Breast Neoplasms	Inhibit	22939885
Cachexia	Associate	19857958
Carcinogenesis	Associate	20132559, 21175304, 22509384, 23439505, 24707489
Carcinoid Tumor	Associate	29422640
Carcinoma Hepatocellular	Associate	14760757, 16024612, 19331697, 19797428, 22590978, 23457512, 24578542, 25223483, 31746344, 36169173
Carcinoma Large Cell	Associate	30793508
Carcinoma Mucoepidermoid	Associate	27682876
Carcinoma Non Small Cell Lung	Associate	26104294, 27224551
Carcinoma Ovarian Epithelial	Associate	19500386
Carcinoma Renal Cell	Associate	10491412, 34133712, 9694722
Carcinoma Small Cell	Associate	30414472
Chemical and Drug Induced Liver Injury	Associate	29093318
Cholangiocarcinoma	Associate	29620225
Colitis Ulcerative	Inhibit	23285182
Colitis Ulcerative	Associate	24971461
Colitis Ulcerative	Stimulate	24971461
Colonic Neoplasms	Associate	18032824
Colorectal Neoplasms	Associate	12901803, 15188000, 15770215, 19172851, 23451189, 31802830
Common Cold	Associate	33851594
Communicable Diseases	Associate	25344230
Coronary Artery Disease	Associate	26075620
Coronavirus Infections	Associate	25344230
COVID 19	Associate	33260035, 35777990, 35855804, 37569398
Crohn Disease	Associate	10517905, 34629811
Cystic Fibrosis	Associate	10433940, 15516493
Dendritic Cell Sarcoma Follicular	Associate	26564005
Diabetes Gestational	Associate	33019392, 35046894
Diabetes Mellitus Type 2	Inhibit	18633101, 25511473
Drug Related Side Effects and Adverse Reactions	Associate	10784420, 10849002, 18636537
Dysgammaglobulinemia	Associate	36292785
Dyskinesia Drug Induced	Inhibit	9516441
Ectodermal Dysplasia	Associate	14523047, 15337789, 18412279, 18523147, 20652730, 36292785
Ectodermal Dysplasia 1 Anhidrotic	Associate	14523047
Ectodermal Dysplasia Anhidrotic with Immunodeficiency Osteopetrosis and Lymphedema	Associate	14523047
Ectodermal dysplasia hypohidrotic with immune deficiency	Associate	18412279, 28629746
Endometriosis	Stimulate	31551156
Epstein Barr Virus Infections	Associate	30974373
Esophageal Squamous Cell Carcinoma	Associate	16680372, 24324738, 29379981, 35417037, 35913453, 36466860
Esophageal Squamous Cell Carcinoma	Inhibit	24324738
Familial cylindromatosis	Stimulate	32901872
Familial Mediterranean Fever	Associate	18577712
Fibrosis	Associate	30836660
Gingivitis	Associate	33851594
Glaucoma	Stimulate	19816602
Glioblastoma	Associate	19725919, 21175304, 24330732, 25215581, 36007522, 36430394
Glioma	Associate	10638962, 12518988, 27052952, 37343523
Glomerulonephritis IGA	Associate	39696012
Hearing Loss	Associate	37062025
Heart Failure	Associate	37334672
Hepatitis B	Associate	25223483, 29093318
Hepatitis B Chronic	Associate	29093318
Hepatitis C	Associate	33785040
Hereditary leiomyomatosis and renal cell cancer	Associate	10556199, 12000717
Herpesviridae Infections	Associate	8622650
Hirschsprung Disease	Inhibit	39199380
Histiocytosis Sinus	Associate	33407333
HIV Infections	Associate	15270850, 29170390, 7853483
Hodgkin Disease	Associate	10556199, 10637284, 19223558, 19648161
HTLV I Infections	Associate	8764027
Hyper IgM Immunodeficiency Syndrome	Associate	36292785
Hyperoxia	Inhibit	14617515
Hypoxia	Associate	14534291, 17114296, 20157762, 23799118, 9892650
Immune System Diseases	Associate	37197664
Immunologic Deficiency Syndromes	Associate	15337789, 18412279
Infarction Anterior Cerebral Artery	Stimulate	39394477
Infections	Inhibit	20980497
Infections	Associate	33602138, 37803001
Infertility Male	Associate	34580317
Inflammation	Associate	10433940, 11000127, 12762338, 15051615, 15994321, 16230348, 16455661, 16489115, 17062574, 18424438, 20043958, 20132559, 21784969, 22363678, 22545589, 23937116, 24248593, 24500711, 24521217, 24707489, 24759787, 24971461, 25063733, 26053099, 27111539, 27371733, 27814644, 28245546, 28380444, 29093318, 29512862, 30429237, 31849975, 32401747, 33282009, 33717140, 33851594, 33998855, 34153045, 34853340, 35628240, 36169173, 37569398
Inflammation	Inhibit	9516441
Inflammatory Bowel Diseases	Associate	34978330, 9616307
Insulin Resistance	Associate	19798070
Iron Overload	Inhibit	25500022
Ischemic Stroke	Stimulate	39394477
Klatskin Tumor	Associate	15655831
Leukemia	Associate	10090947, 12393936
Leukemia Lymphocytic Chronic B Cell	Associate	23515408
Leukemia Lymphoma Adult T Cell	Associate	10090947
Leukemia Myeloid Acute	Associate	23669290, 32349161, 35289472
Light Fixation Seizure Syndrome	Associate	15337789
Lung Neoplasms	Associate	18636537, 30396235, 33863364, 36912495
Lupus Nephritis	Associate	18285351
Lymphoma	Associate	15979856, 22393418
Lymphoma B Cell	Associate	23555990, 32961552
Lymphoma B Cell Marginal Zone	Associate	16648871
Lymphoma Large B Cell Diffuse	Associate	11748286, 19104039, 22393418, 32817282, 34763718
Lymphoma Mantle Cell	Associate	32961552
Lymphoma Primary Effusion	Associate	11830587
Lymphoma T Cell Cutaneous	Associate	16219794
Magnesium Deficiency	Inhibit	33210606
Malformations of Cortical Development Group I	Associate	10224136, 15004016
Melanoma	Associate	11775058
Melanoma	Inhibit	15016307, 17141217
Meningioma	Associate	37515398
Mental Disorders	Associate	33161109
Mitral Valve Insufficiency	Associate	34139044
Mouth Neoplasms	Associate	22509384, 25951128
Multiple Myeloma	Associate	10216101, 11872748, 12393461, 29441489, 30387821, 31964975, 32977994
Muscle Neoplasms	Associate	19816602
Myelodysplastic Syndromes	Associate	35289472
Myocardial Infarction	Associate	37334672
Nasopharyngeal Carcinoma	Associate	26161396, 27647909, 28098136, 28380444, 37062025
Neoplasm Metastasis	Associate	22509384, 34454403
Neoplasms	Associate	10491412, 11171586, 15256061, 19107816, 19857958, 21175304, 21281788, 22259056, 24047462, 24707489, 26053616, 26295305, 27052952, 27682876, 30274235, 30821613, 33863364, 36007522, 37967237, 39513319, 9694722
Neoplasms	Inhibit	10637284, 23439505, 24367615, 25093192, 29382334, 37343523
Neoplasms	Stimulate	28545028
Neoplasms Glandular and Epithelial	Associate	16489115
Neoplasms Squamous Cell	Associate	35756488
Nephritis Interstitial	Associate	18285351
Nephrotic Syndrome	Associate	15882260
Neuroblastoma	Associate	23422506, 38282862
Obesity	Inhibit	18633101
Osteoarthritis	Associate	26191174, 31364869, 38401067
Osteoarthritis Hip	Associate	29980729
Osteoporosis	Associate	35791093
Osteosarcoma	Associate	36438897, 39190380
Ovarian Neoplasms	Associate	18667446, 20969748, 25659662
Ovarian Neoplasms	Inhibit	25659662
Pain	Associate	33848569
Pancreatic Neoplasms	Associate	12824895, 17050666, 24504166, 25238288, 28724890, 39513319
Parkinson Disease	Associate	33161109
Parkinson Disease Secondary	Associate	32401747
Peptic Ulcer	Associate	33851594
Periodontitis	Associate	33851594
Personality Disorders	Associate	28724890
Plaque Atherosclerotic	Associate	10339475
Polycystic Ovary Syndrome	Inhibit	32140727
Pre Eclampsia	Associate	33397161
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	30116272
Prostatic Neoplasms	Associate	12393936, 12771931, 26068031, 26907477, 28208611
Psoriasis	Associate	20953189, 22298274, 30176044
Pulmonary Arterial Hypertension	Associate	36690956
Pulmonary Disease Chronic Obstructive	Inhibit	19717478
Pulmonary Disease Chronic Obstructive	Associate	22363678, 26617776
red meat allergy	Associate	33804792
Respiratory Sounds	Associate	25326706
Respiratory Tract Infections	Associate	26688820
Sarcoidosis	Inhibit	21177920
Severe Acute Respiratory Syndrome	Associate	25344230
Shock Septic	Associate	10477696
Sjogren's Syndrome	Associate	26380323
Skin Diseases	Associate	20164548
Squamous Cell Carcinoma of Head and Neck	Associate	16818647, 20695076, 22509384, 22641218, 25951128
Stomach Neoplasms	Associate	11310828, 19857958, 20132559, 23402362, 23870553, 28670959, 30097586, 31556767, 32021099, 39505541
Stroke	Associate	21114618
Stroke	Stimulate	39394477
Subarachnoid Hemorrhage	Associate	33990177
T cell immunodeficiency primary	Associate	14523047
Thymoma	Associate	9842922
Triple Negative Breast Neoplasms	Associate	34197030
Tuberculosis Multidrug Resistant	Associate	15655831
Uterine Cervical Neoplasms	Associate	28545028
Vibrio vulnificus infection	Inhibit	16011519
Virus Diseases	Inhibit	12050393
Virus Diseases	Associate	35838554
Vitreoretinopathy Proliferative	Associate	33509158
Waldenstrom Macroglobulinemia	Associate	22931316