RELA (RELA proto-oncogene, NF-kB subunit)

Gene

• Entrez ID: 5970
• Gene name: RELA proto-oncogene, NF-kB subunit
• Gene symbol: RELA
• Synonyms: AIF3BL3, CMCU, NFKB3, p65
• Chromosome: 11
• Chromosome location: 11q13.1
• Summary: NF-kappa-B is a ubiquitous transcription factor involved in several biological processes. It is held in the cytoplasm in an inactive state by specific inhibitors. Upon degradation of the inhibitor, NF-kappa-B moves to the nucleus and activates transcripti

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1565191003	C>T	Pathogenic	Splice donor variant
rs1590931704	T>G	Likely-pathogenic	Splice acceptor variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002616	hsa-miR-124-3p	Luciferase reporter assay, Microarray	15685193
MIRT002531	hsa-miR-373-3p	Microarray	15685193
MIRT002531	hsa-miR-373-3p	Microarray;Other	15685193
MIRT002616	hsa-miR-124-3p	Microarray;Other	15685193
MIRT025722	hsa-miR-7-5p	Sequencing	20371350
MIRT025722	hsa-miR-7-5p	Microarray	17612493
MIRT025722	hsa-miR-7-5p	Microarray	19073608
MIRT027888	hsa-miR-96-5p	Sequencing	20371350
MIRT044799	hsa-miR-320a	CLASH	23622248
MIRT044799	hsa-miR-320a	CLASH	23622248
MIRT044156	hsa-miR-30e-5p	CLASH	23622248
MIRT043112	hsa-miR-324-5p	CLASH	23622248
MIRT025722	hsa-miR-7-5p	qRT-PCR, Western blot	25232110
MIRT025722	hsa-miR-7-5p	qRT-PCR, Western blot	25232110
MIRT025722	hsa-miR-7-5p	qRT-PCR, Western blot	25232110
MIRT025722	hsa-miR-7-5p	qRT-PCR, Western blot	25232110
MIRT642962	hsa-miR-3125	HITS-CLIP	23824327
MIRT642961	hsa-miR-3916	HITS-CLIP	23824327
MIRT642960	hsa-miR-6859-5p	HITS-CLIP	23824327
MIRT642959	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT383563	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT642958	hsa-miR-877-5p	HITS-CLIP	23824327
MIRT642956	hsa-miR-6866-5p	HITS-CLIP	23824327
MIRT642957	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT642955	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT642954	hsa-miR-1303	HITS-CLIP	23824327
MIRT642962	hsa-miR-3125	HITS-CLIP	23824327
MIRT642961	hsa-miR-3916	HITS-CLIP	23824327
MIRT642960	hsa-miR-6859-5p	HITS-CLIP	23824327
MIRT642959	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT383563	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT642958	hsa-miR-877-5p	HITS-CLIP	23824327
MIRT642956	hsa-miR-6866-5p	HITS-CLIP	23824327
MIRT642957	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT642955	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT642954	hsa-miR-1303	HITS-CLIP	23824327
MIRT559980	hsa-miR-4534	PAR-CLIP	20371350
MIRT559979	hsa-miR-8082	PAR-CLIP	20371350
MIRT559978	hsa-miR-3134	PAR-CLIP	20371350
MIRT025722	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT559977	hsa-miR-6077	PAR-CLIP	20371350
MIRT559975	hsa-miR-3161	PAR-CLIP	20371350
MIRT559976	hsa-miR-599	PAR-CLIP	20371350
MIRT559974	hsa-miR-1261	PAR-CLIP	20371350
MIRT559980	hsa-miR-4534	PAR-CLIP	20371350
MIRT559979	hsa-miR-8082	PAR-CLIP	20371350
MIRT559978	hsa-miR-3134	PAR-CLIP	20371350
MIRT025722	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT559977	hsa-miR-6077	PAR-CLIP	20371350
MIRT559975	hsa-miR-3161	PAR-CLIP	20371350
MIRT559976	hsa-miR-599	PAR-CLIP	20371350
MIRT559974	hsa-miR-1261	PAR-CLIP	20371350
MIRT025722	hsa-miR-7-5p	ChIP-seq, Immunofluorescence, Immunohistochemistry, In situ hybridization, Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	26261179
MIRT025722	hsa-miR-7-5p	ChIP-seq, Immunofluorescence, Immunohistochemistry, In situ hybridization, Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	26261179
MIRT025722	hsa-miR-7-5p	ChIP-seq, Immunofluorescence, Immunohistochemistry, In situ hybridization, Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	26261179
MIRT025722	hsa-miR-7-5p	ChIP-seq, Immunofluorescence, Immunohistochemistry, In situ hybridization, Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	26261179
MIRT025722	hsa-miR-7-5p	qRT-PCR, Western blot	25814668
MIRT737051	hsa-miR-375	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR	31802830
MIRT737051	hsa-miR-375	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR	31802830
MIRT737051	hsa-miR-375	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR	31802830
MIRT642962	hsa-miR-3125	HITS-CLIP	23824327
MIRT642961	hsa-miR-3916	HITS-CLIP	23824327
MIRT642960	hsa-miR-6859-5p	HITS-CLIP	23824327
MIRT642959	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT383563	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT642958	hsa-miR-877-5p	HITS-CLIP	23824327
MIRT642956	hsa-miR-6866-5p	HITS-CLIP	23824327
MIRT642957	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT642955	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT642954	hsa-miR-1303	HITS-CLIP	23824327
MIRT642962	hsa-miR-3125	HITS-CLIP	23824327
MIRT642961	hsa-miR-3916	HITS-CLIP	23824327
MIRT642960	hsa-miR-6859-5p	HITS-CLIP	23824327
MIRT642959	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT383563	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT642958	hsa-miR-877-5p	HITS-CLIP	23824327
MIRT642956	hsa-miR-6866-5p	HITS-CLIP	23824327
MIRT642957	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT642955	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT642954	hsa-miR-1303	HITS-CLIP	23824327
MIRT559980	hsa-miR-4534	PAR-CLIP	20371350
MIRT559979	hsa-miR-8082	PAR-CLIP	20371350
MIRT559978	hsa-miR-3134	PAR-CLIP	20371350
MIRT025722	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT559977	hsa-miR-6077	PAR-CLIP	20371350
MIRT559975	hsa-miR-3161	PAR-CLIP	20371350
MIRT559976	hsa-miR-599	PAR-CLIP	20371350
MIRT559974	hsa-miR-1261	PAR-CLIP	20371350
MIRT559980	hsa-miR-4534	PAR-CLIP	20371350
MIRT559979	hsa-miR-8082	PAR-CLIP	20371350
MIRT559978	hsa-miR-3134	PAR-CLIP	20371350
MIRT025722	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT559977	hsa-miR-6077	PAR-CLIP	20371350
MIRT559975	hsa-miR-3161	PAR-CLIP	20371350
MIRT559976	hsa-miR-599	PAR-CLIP	20371350
MIRT559974	hsa-miR-1261	PAR-CLIP	20371350
MIRT025722	hsa-miR-7-5p	Luciferase reporter assay, Western blotting, qRT-PCR, Immunohistochemistry (IHC), Flow cytometry	35510522
MIRT756464	hsa-miR-182-5p	qRT-PCR	38796528
MIRT1300046	hsa-miR-1253	CLIP-seq
MIRT1300047	hsa-miR-1276	CLIP-seq
MIRT1300048	hsa-miR-182	CLIP-seq
MIRT1300049	hsa-miR-302a	CLIP-seq
MIRT1300050	hsa-miR-302b	CLIP-seq
MIRT1300051	hsa-miR-302c	CLIP-seq
MIRT1300052	hsa-miR-302d	CLIP-seq
MIRT1300053	hsa-miR-302e	CLIP-seq
MIRT1300054	hsa-miR-3691-3p	CLIP-seq
MIRT1300055	hsa-miR-372	CLIP-seq
MIRT1300056	hsa-miR-373	CLIP-seq
MIRT1300057	hsa-miR-4419a	CLIP-seq
MIRT1300058	hsa-miR-4453	CLIP-seq
MIRT1300059	hsa-miR-4510	CLIP-seq
MIRT1300060	hsa-miR-451b	CLIP-seq
MIRT1300061	hsa-miR-4538	CLIP-seq
MIRT1300062	hsa-miR-4676-5p	CLIP-seq
MIRT1300063	hsa-miR-520a-3p	CLIP-seq
MIRT1300064	hsa-miR-520b	CLIP-seq
MIRT1300065	hsa-miR-520c-3p	CLIP-seq
MIRT1300066	hsa-miR-520d-3p	CLIP-seq
MIRT1300067	hsa-miR-520e	CLIP-seq
MIRT1300068	hsa-miR-520f	CLIP-seq
MIRT1300069	hsa-miR-575	CLIP-seq
MIRT1300070	hsa-miR-580	CLIP-seq
MIRT1300048	hsa-miR-182	CLIP-seq
MIRT1300071	hsa-miR-320e	CLIP-seq
MIRT1300058	hsa-miR-4453	CLIP-seq
MIRT1300061	hsa-miR-4538	CLIP-seq
MIRT1300062	hsa-miR-4676-5p	CLIP-seq
MIRT1300069	hsa-miR-575	CLIP-seq
MIRT1300072	hsa-miR-7	CLIP-seq
MIRT2089206	hsa-miR-1275	CLIP-seq
MIRT1300047	hsa-miR-1276	CLIP-seq
MIRT1300048	hsa-miR-182	CLIP-seq
MIRT1300054	hsa-miR-3691-3p	CLIP-seq
MIRT2089207	hsa-miR-4311	CLIP-seq
MIRT1300058	hsa-miR-4453	CLIP-seq
MIRT1300060	hsa-miR-451b	CLIP-seq
MIRT1300061	hsa-miR-4538	CLIP-seq
MIRT2089208	hsa-miR-4665-5p	CLIP-seq
MIRT1300062	hsa-miR-4676-5p	CLIP-seq
MIRT1300069	hsa-miR-575	CLIP-seq
MIRT2089209	hsa-miR-596	CLIP-seq
MIRT1300072	hsa-miR-7	CLIP-seq
MIRT2089210	hsa-miR-759	CLIP-seq
MIRT2089206	hsa-miR-1275	CLIP-seq
MIRT2089208	hsa-miR-4665-5p	CLIP-seq
MIRT1300072	hsa-miR-7	CLIP-seq
MIRT2610567	hsa-miR-135a	CLIP-seq
MIRT2610568	hsa-miR-135b	CLIP-seq
MIRT2610569	hsa-miR-186	CLIP-seq
MIRT2610570	hsa-miR-3163	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
APEX1	Activation	17045925
AR	Repression	18386814
ATF2	Activation	21350211
BCL3	Unknown	7896265
EP300	Unknown	21146504
ETV3	Repression	18025162
FHL2	Unknown	18752053
GATA3	Unknown	19686049
HDAC9	Repression	15964798
HOXA9	Repression	18068911
HSF1	Unknown	18689673
NFKBIA	Activation	9500973
NFKBIA	Repression	11278471;18606063;20173029
NFKBIA	Unknown	15713458;17148610
NR1H4	Activation	21364590
NR1I2	Repression	22248096
PARP1	Unknown	16026317
PGR	Repression	8626413
RUNX1	Unknown	19686049
SP1	Activation	20538607;11964305;9151857
SP1	Unknown	8450395
SP3	Activation	20538607
SP4	Activation	20538607
TNFAIP3	Repression	19124729
TNFAIP3	Unknown	24039598
TP53	Unknown	15988033
TRIM22	Unknown	21651891
USF1	Unknown	19686049

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	17350185
GO:0000785	Component	Chromatin	IDA	21343296, 26268439
GO:0000785	Component	Chromatin	IGI	23729669
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	IDA	17350185
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	7959007, 23811396, 24955228, 25411248
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IMP	18045535
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	1406630, 17350185, 21343177, 23729669
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS	21329555
GO:0000979	Function	RNA polymerase II core promoter sequence-specific DNA binding	IDA	21343296
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	3091258
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001225	Function	RNA polymerase II transcription coactivator binding	IPI	23811396
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	17350185
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	1406630, 17350185, 23811396, 26435691
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	26268439
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS	21329555
GO:0001889	Process	Liver development	IEA
GO:0001942	Process	Hair follicle development	IEA
GO:0002223	Process	Stimulatory C-type lectin receptor signaling pathway	TAS
GO:0003677	Function	DNA binding	IDA	15790681, 18073330, 23091055
GO:0003677	Function	DNA binding	IMP	18212740
GO:0003682	Function	Chromatin binding	IDA	19058135
GO:0003700	Function	DNA-binding transcription factor activity	IDA	12048232
GO:0003700	Function	DNA-binding transcription factor activity	IMP	9425125
GO:0005515	Function	Protein binding	IPI	1493333, 7651415, 8246997, 9865693, 10498867, 11387332, 11526476, 11591705, 11931769, 12628924, 12842894, 14600157, 14624448, 14685242, 15029197, 15125834, 15140884, 15152190, 15355351, 15601829, 15799966, 15917220, 16291753, 16452207, 16683270, 16951195, 17000776, 17003112, 1715778
GO:0005634	Component	Nucleus	IDA	3140380, 15790681, 17350185, 18045535, 18212740, 19058135, 21097510, 21343177, 21343296, 21474709, 21830064, 22065573, 25411248
GO:0005634	Component	Nucleus	IGI	25327529
GO:0005634	Component	Nucleus	IMP	9425125
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IDA	12048232
GO:0005730	Component	Nucleolus	IDA	21343177
GO:0005737	Component	Cytoplasm	IDA	3140380, 15790681, 21097510, 21343177, 21830064, 25411248, 27736973
GO:0005737	Component	Cytoplasm	IGI	23729669
GO:0005829	Component	Cytosol	IDA	21474709, 25327529
GO:0005829	Component	Cytosol	TAS
GO:0006117	Process	Acetaldehyde metabolic process	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006351	Process	Transcription, DNA-templated	IEA
GO:0006355	Process	Regulation of transcription, DNA-templated	IMP	23178297
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006954	Process	Inflammatory response	IBA	21873635
GO:0006954	Process	Inflammatory response	IDA	12924514
GO:0006968	Process	Cellular defense response	NAS	8717528
GO:0007249	Process	I-kappaB kinase/NF-kappaB signaling	IBA	21873635
GO:0007568	Process	Aging	IEA
GO:0008134	Function	Transcription factor binding	IPI	10849440
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	23091055
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0010033	Process	Response to organic substance	IDA	10747850
GO:0010224	Process	Response to UV-B	IDA	15616591
GO:0014040	Process	Positive regulation of Schwann cell differentiation	IEA
GO:0016032	Process	Viral process	IEA
GO:0019221	Process	Cytokine-mediated signaling pathway	IDA	15876188
GO:0019899	Function	Enzyme binding	IPI	23811396
GO:0019901	Function	Protein kinase binding	IPI	10521409, 15465828
GO:0031293	Process	Membrane protein intracellular domain proteolysis	TAS
GO:0031490	Function	Chromatin DNA binding	IDA	25411248
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	12748188
GO:0032481	Process	Positive regulation of type I interferon production	TAS
GO:0032495	Process	Response to muramyl dipeptide	IEA
GO:0032570	Process	Response to progesterone	IEA
GO:0032735	Process	Positive regulation of interleukin-12 production	IEA
GO:0032757	Process	Positive regulation of interleukin-8 production	IGI	21343296
GO:0032868	Process	Response to insulin	IEA
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IDA	21343177, 25411248
GO:0033234	Process	Negative regulation of protein sumoylation	IEA
GO:0033554	Process	Cellular response to stress	IBA	21873635
GO:0033590	Process	Response to cobalamin	IEA
GO:0033613	Function	Activating transcription factor binding	IPI	15489227
GO:0034097	Process	Response to cytokine	IBA	21873635
GO:0035525	Component	NF-kappaB p50/p65 complex	IDA	18045535
GO:0035729	Process	Cellular response to hepatocyte growth factor stimulus	IEA
GO:0035924	Process	Cellular response to vascular endothelial growth factor stimulus	IMP	23878390
GO:0035994	Process	Response to muscle stretch	IEA
GO:0038061	Process	NIK/NF-kappaB signaling	IBA	21873635
GO:0038095	Process	Fc-epsilon receptor signaling pathway	TAS
GO:0042177	Process	Negative regulation of protein catabolic process	IEA
GO:0042277	Function	Peptide binding	IPI	18045535
GO:0042301	Function	Phosphate ion binding	IDA	10521409
GO:0042493	Process	Response to drug	IEA
GO:0042802	Function	Identical protein binding	IDA	9437432
GO:0042802	Function	Identical protein binding	IPI	8246997, 10498867
GO:0042803	Function	Protein homodimerization activity	IDA	18045535, 18212740
GO:0042805	Function	Actinin binding	IPI	25411248
GO:0042826	Function	Histone deacetylase binding	IPI	17785205
GO:0043066	Process	Negative regulation of apoptotic process	IDA	10747850, 23091055
GO:0043066	Process	Negative regulation of apoptotic process	TAS
GO:0043123	Process	Positive regulation of I-kappaB kinase/NF-kappaB signaling	IEP	12761501
GO:0043200	Process	Response to amino acid	IEA
GO:0043278	Process	Response to morphine	IEA
GO:0043620	Process	Regulation of DNA-templated transcription in response to stress	IMP	26649771
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045087	Process	Innate immune response	IBA	21873635
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IDA	17350185
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	17350185, 18073330
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IMP	9425125
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	1406630, 17350185, 23091055, 23811396, 26435691
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	21343296, 21518763
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	10660609, 21310825, 25762865
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS	21329555
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	IEA
GO:0047485	Function	Protein N-terminus binding	IPI	7739562
GO:0050727	Process	Regulation of inflammatory response	ISS
GO:0050852	Process	T cell receptor signaling pathway	TAS
GO:0050862	Process	Positive regulation of T cell receptor signaling pathway	IMP	18045535
GO:0051059	Function	NF-kappaB binding	IPI	8441377
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IDA	15790681
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IGI	18045535
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IMP	18045535
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	TAS
GO:0051591	Process	Response to cAMP	IEA
GO:0051607	Process	Defense response to virus	NAS	8717528
GO:0070301	Process	Cellular response to hydrogen peroxide	IDA	21830064
GO:0070431	Process	Nucleotide-binding oligomerization domain containing 2 signaling pathway	IDA	12527755
GO:0070491	Function	Repressing transcription factor binding	IPI	10660609
GO:0070498	Process	Interleukin-1-mediated signaling pathway	IGI	25327529
GO:0070498	Process	Interleukin-1-mediated signaling pathway	TAS
GO:0070555	Process	Response to interleukin-1	IGI	15489227
GO:0071222	Process	Cellular response to lipopolysaccharide	IMP	25762865
GO:0071223	Process	Cellular response to lipoteichoic acid	IMP	26649771
GO:0071224	Process	Cellular response to peptidoglycan	IMP	24955228
GO:0071316	Process	Cellular response to nicotine	IMP	22357537
GO:0071347	Process	Cellular response to interleukin-1	IDA	18073330
GO:0071354	Process	Cellular response to interleukin-6	IMP	22357537
GO:0071356	Process	Cellular response to tumor necrosis factor	IDA	18073330, 23091055
GO:0071356	Process	Cellular response to tumor necrosis factor	IMP	18045535, 23878390
GO:0071532	Function	Ankyrin repeat binding	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099527	Process	Postsynapse to nucleus signaling pathway	IEA
GO:1901222	Process	Regulation of NIK/NF-kappaB signaling	IGI	21343177
GO:1901223	Process	Negative regulation of NIK/NF-kappaB signaling	IMP	18212740
GO:1901224	Process	Positive regulation of NIK/NF-kappaB signaling	IDA	21343177
GO:1901224	Process	Positive regulation of NIK/NF-kappaB signaling	IMP	23178297
GO:1901522	Process	Positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus	IMP	24955228
GO:1902004	Process	Positive regulation of amyloid-beta formation	ISS	21329555
GO:1902894	Process	Negative regulation of pri-miRNA transcription by RNA polymerase II	IMP	23878390
GO:1902895	Process	Positive regulation of pri-miRNA transcription by RNA polymerase II	IMP	23619365, 26268439
GO:1904385	Process	Cellular response to angiotensin	IMP	22357537
GO:1904996	Process	Positive regulation of leukocyte adhesion to vascular endothelial cell	IMP	25515214
GO:2000630	Process	Positive regulation of miRNA metabolic process	IMP	22357537
GO:2001237	Process	Negative regulation of extrinsic apoptotic signaling pathway	IMP	21310825

Other IDs

• MIM: 164014
• HGNC: 9955
• e!Ensembl: ENSG00000173039

Protein

• UniProt ID: Q04206
• Protein name: Transcription factor p65 (Nuclear factor NF-kappa-B p65 subunit) (Nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)
• Protein function: NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammati
• PDB: 1NFI, 2LSP, 2O61, 3GUT, 3QXY, 3RC0, 4KV1, 4KV4, 5U4K, 5URN, 6NV2, 6QHL, 6QHM, 6YOW, 6YOX, 6YOY, 6YP2, 6YP3, 6YP8, 6YPL, 6YPY, 6YQ2, 7BI3, 7BIQ, 7BIW, 7BIY, 7BJB, 7BJF, 7BJL, 7BJW, 7BKH, 7LET, 7LEU, 7LF4, 7NJ9, 7NJB, 7NK3, 7NK5, 7NLA, 7NLE, 7NM1, 7NM3, 7NM9, 7NMH, 7NQP, 7NR7, 7NSV, 7NV4, 7NVI, 7NWS, 7NXS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00554	RHD_DNA_bind	21 → 186	Rel homology DNA-binding domain	Domain
  PF16179	RHD_dimer	195 → 292	Rel homology dimerisation domain	Domain

• Sequence:

  MDELFPLIFPAEPAQASGPYVEIIEQPKQRGMRFRYKCEGRSAGSIPGERSTDTTKTHPT
  IKINGYTGPGTVRISLVTKDPPHRPHPHELVGKDCRDGFYEAELCPDRCIHSFQNLGIQC
  VKKRDLEQAISQRIQTNNNPFQVPIEEQRGDYDLNAVRLCFQVTVRDPSGRPLRLPPVLS
  HPIFDNRAPNTAELKICRVNRNSGSCLGGDEIFLLCDKVQKEDIEVYFTGPGWEARGSFS
  QADVHRQVAIVFRTPPYADPSLQAPVRVSMQLRRPSDRELSEPMEFQYLPDTDDRHRIEE
  KRKRTYETFKSIMKKSPFSGPTDPRPPPRRIAVPSRSSASVPKPAPQPYPFTSSLSTINY
  DEFPTMVFPSGQISQASALAPAPPQVLPQAPAPAPAPAMVSALAQAPAPVPVLAPGPPQA
  VAPPAPKPTQAGEGTLSEALLQLQFDDEDLGALLGNSTDPAVFTDLASVDNSEFQQLLNQ
  GIPVAPHTTEPMLMEYPEAITRLVTGAQRPPDPAPAPLGAPGLPNGLLSGDEDFSSIADM
  DFSALLSQISS

• Sequence length: 551

Pathways

KEGG:

Antifolate resistance
MAPK signaling pathway
Ras signaling pathway
cAMP signaling pathway
Chemokine signaling pathway
NF-kappa B signaling pathway
HIF-1 signaling pathway
Sphingolipid signaling pathway
Mitophagy - animal
PI3K-Akt signaling pathway
Apoptosis
Longevity regulating pathway
Cellular senescence
Osteoclast differentiation
Neutrophil extracellular trap formation
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
Prolactin signaling pathway
Adipocytokine signaling pathway
Relaxin signaling pathway
Insulin resistance
Non-alcoholic fatty liver disease
AGE-RAGE signaling pathway in diabetic complications
Alcoholic liver disease
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Cocaine addiction
Epithelial cell signaling in Helicobacter pylori infection
Pathogenic Escherichia coli infection
Shigellosis
Salmonella infection
Pertussis
Legionellosis
Yersinia infection
Leishmaniasis
Chagas disease
Toxoplasmosis
Amoebiasis
Tuberculosis
Hepatitis C
Hepatitis B
Measles
Human cytomegalovirus infection
Influenza A
Human papillomavirus infection
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
Transcriptional misregulation in cancer
Viral carcinogenesis
Chemical carcinogenesis - receptor activation
Chemical carcinogenesis - reactive oxygen species
Pancreatic cancer
Prostate cancer
Chronic myeloid leukemia
Acute myeloid leukemia
Small cell lung cancer
PD-L1 expression and PD-1 checkpoint pathway in cancer
Inflammatory bowel disease
Diabetic cardiomyopathy
Lipid and atherosclerosis
Fluid shear stress and atherosclerosis

Reactome:

Activation of NF-kappaB in B cells
RIP-mediated NFkB activation via ZBP1
Regulated proteolysis of p75NTR
Downstream TCR signaling
NF-kB is activated and signals survival
Senescence-Associated Secretory Phenotype (SASP)
FCERI mediated NF-kB activation
DEx/H-box helicases activate type I IFN and inflammatory cytokines production
PKMTs methylate histone lysines
TAK1 activates NFkB by phosphorylation and activation of IKKs complex
Interleukin-1 processing
SUMOylation of immune response proteins
IkBA variant leads to EDA-ID
Dectin-1 mediated noncanonical NF-kB signaling
CLEC7A (Dectin-1) signaling
CD209 (DC-SIGN) signaling
CLEC7A/inflammasome pathway
The NLRP3 inflammasome
Transcriptional Regulation by VENTX
Interleukin-1 signaling
TRAF6 mediated NF-kB activation
Purinergic signaling in leishmaniasis infection

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	20154269
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs10520699, rs11852999, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	20154269
Cholestasis	Cholestasis, Extrahepatic, Cholestasis	rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039	30026087, 28789951, 20626112
Colonic neoplasms	Malignant tumor of colon, Colonic Neoplasms	rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483	20715105
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	23500658
Ependymoma	Ependymoma	rs1555165565, rs1555993293	24553141
Hypertension	Hypertensive disease	rs13306026, rs13333226	27659729, 19018797
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	20154269
Migraine	Migraine Disorders	rs794727411
Papillary renal carcinoma	Papillary Renal Cell Carcinoma	rs5030823, rs2137087134, rs121913668, rs121913669, rs121913670, rs121913671, rs121913673, rs121913243, rs786202724	18089796
Renal carcinoma	Renal Cell Carcinoma, Conventional (Clear Cell) Renal Cell Carcinoma, Sarcomatoid Renal Cell Carcinoma, Collecting Duct Carcinoma of the Kidney	rs121913668, rs121913670, rs121913243, rs786202724	18089796
Schizophrenia	Schizophrenia, Schizophrenia, Childhood	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	21593732, 26508570

Unknown
Disease name	Disease term	dbSNP ID	References
Alcoholic liver cirrhosis	Liver Cirrhosis, Alcoholic		23274713
Barrett epithelium	Barrett Epithelium		15387324
Barrett esophagus	Barrett Esophagus	rs41341748	15387324
Biliary cirrhosis	Biliary cirrhosis, Biliary Cirrhosis, Primary, 1, Primary biliary cirrhosis		30026087
Brain neoplasms	Brain Neoplasms, Malignant neoplasm of brain, Benign neoplasm of brain, unspecified, Brain Tumor, Primary, Recurrent Brain Neoplasm, Primary malignant neoplasm of brain	rs1800720, rs587781720	20932960
Mammary neoplasms	Mammary Neoplasms, Human, Mammary Neoplasms		20154269
Intracranial neoplasm	Neoplasms, Intracranial		20932960
Cerebral ischemia	Brain Ischemia		18628779
Chromophobe carcinoma	Chromophobe Renal Cell Carcinoma	rs137853247	18089796
Colitis	Colitis		23810507
Cystitis	Cystitis		22099998
Diabetic cardiomyopathy	Diabetic Angiopathies, Microangiopathy, Diabetic		25381014
Diabetic nephropathy	Diabetic Nephropathy		17900838
Glomerulosclerosis	Nodular glomerulosclerosis		17900838
Kidney failure	Kidney Failure, Chronic		19420110
Liver neoplasms	Liver neoplasms
Lung neoplasms	Lung Neoplasms
Oral ulcer	Oral Ulcer
Ovarian neoplasm	ovarian neoplasm
Rela fusion-positive ependymoma	RELA fusion-positive ependymoma		28895660
Biliary cholangitis	Secondary Biliary Cholangitis		30026087
Skin cancer	Malignant neoplasm of skin		23069812
Skin neoplasms	Skin Neoplasms		23069812
Spinal cord neoplasms	Spinal Cord Neoplasms
Supratentorial neoplasm	Supratentorial Neoplasms
Ulcerative colitis	Ulcerative Colitis		15955209