NFKBIA (NFKB inhibitor alpha)

Gene

• Entrez ID: 4792
• Gene name: NFKB inhibitor alpha
• Gene symbol: NFKBIA
• Synonyms: 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:0005515	Function	Protein binding	IPI	9452483, 9520446, 9865693, 10498867, 10733566, 12482991, 12486103, 12730857, 14685242, 14743216, 15601829, 15799966, 16126728, 16195219, 16286467, 16319058, 16365431, 16683270, 16951195, 17003112, 17301240, 17318178, 17612295, 18045535, 18539148, 18632959, 18922877, 19008357, 191969
GO:0005634	Component	Nucleus	IDA	7679069, 16648481
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	3140380
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0006606	Process	Protein import into nucleus	IEA
GO:0006915	Process	Apoptotic process	TAS	10747850
GO:0007249	Process	I-kappaB kinase/NF-kappaB signaling	IDA	25038658
GO:0007253	Process	Cytoplasmic sequestering of NF-kappaB	IMP	16938301
GO:0008134	Function	Transcription factor binding	TAS	10928981
GO:0008139	Function	Nuclear localization sequence binding	IPI	1493333
GO:0010745	Process	Negative regulation of macrophage derived foam cell differentiation	IMP	16938301
GO:0010875	Process	Positive regulation of cholesterol efflux	IMP	16938301
GO:0010888	Process	Negative regulation of lipid storage	IMP	16938301
GO:0016032	Process	Viral process	IEA
GO:0016579	Process	Protein deubiquitination	TAS
GO:0019899	Function	Enzyme binding	IPI	16648481
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:0032270	Process	Positive regulation of cellular protein metabolic process	IMP	16938301
GO:0032495	Process	Response to muramyl dipeptide	IEA
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IDA	25038658
GO:0033256	Component	I-kappaB/NF-kappaB complex	TAS	16938301
GO:0034142	Process	Toll-like receptor 4 signaling pathway	IEA
GO:0035994	Process	Response to muscle stretch	IEA
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042802	Function	Identical protein binding	IPI	16951195
GO:0042994	Process	Cytoplasmic sequestering of transcription factor	IDA	1493333
GO:0043066	Process	Negative regulation of apoptotic process	TAS
GO:0043330	Process	Response to exogenous dsRNA	IEA
GO:0043392	Process	Negative regulation of DNA binding	NAS	3140380
GO:0045638	Process	Negative regulation of myeloid cell differentiation	IEA
GO:0045746	Process	Negative regulation of Notch signaling pathway	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	19245366, 23729669
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	16938301
GO:0050729	Process	Positive regulation of inflammatory response	IDA	25038658
GO:0051059	Function	NF-kappaB binding	IDA	11931770
GO:0051059	Function	NF-kappaB binding	IPI	7739562
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	TAS
GO:1901222	Process	Regulation of NIK/NF-kappaB signaling	NAS	3140380

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
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	16298037
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	16298037
Ectodermal dysplasia	Ectodermal dysplasia, hypohidrotic, with immune deficiency, Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant	rs74315309, rs121908116, rs1558814967, rs121908450, rs121908452, rs121908453, rs797044435, rs121908454, rs121908455, rs121908456, rs797044436, rs797044437, rs137853324, rs137853325, rs137853326, rs137853327, rs137853328, rs137853329, rs1569556603, rs2147483647, rs137853330, rs28933100, rs121913665, rs387907197, rs386134238, rs386134240, rs782540538, rs398122913, rs398122377, rs179363867, rs1565766888, rs747806672, rs879255553, rs886039564, rs886041005, rs766500689, rs886041411, rs782178147, rs1057519508, rs1057524917, rs139455627, rs1060499610, rs1553445945, rs1553448320, rs557166582, rs1569151872, rs1555916009, rs1566591076, rs1566591086, rs1566591082, rs1558814135, rs773885029, rs1590674994, rs1575653629, rs1575647025, rs781890406, rs749688157	18412279, 14523047, 18412279, 23239958
Hypohidrotic ectodermal dysplasia	Anhydrotic Ectodermal Dysplasias	rs104894415, rs28937872, rs104894416
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	16298037
Nasopharyngeal carcinoma	Malignant neoplasm of nasopharynx, Nasopharyngeal carcinoma	rs200046052	27647909
Pancreatic cancer	Malignant neoplasm of pancreas	rs118203998, rs180177143, rs587776417, rs587776527, rs864622498, rs876659571, rs587778587, rs886039619, rs745533713, rs1555460431, rs200612497	15861417
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	20953190

Unknown
Disease name	Disease term	dbSNP ID	References
Anhidrosis	Anhidrosis
Mammary neoplasms	Mammary Neoplasms, Human, Mammary Neoplasms		16298037
Cardiovascular diseases	Cardiovascular Diseases		30595370
Cerebral ischemia	Brain Ischemia		18628779
Classical hodgkin lymphoma	Mixed Cellularity Hodgkin Lymphoma, Lymphocyte Rich Classical Hodgkin Lymphoma, Nodular Lymphocyte Predominant Hodgkin Lymphoma		19223558
Frontal bossing	Frontal bossing
Giant cell glioblastoma	Giant Cell Glioblastoma		25215581
Gliosarcoma	gliosarcoma		25215581
Hodgkin disease	Hodgkin Disease		19223558
Hodgkin lymphoma	Adult Hodgkin Lymphoma	rs387906223, rs56391007, rs121913527, rs747694886	19223558
Hodgkin lymphoma, lymphocyte depletion	Hodgkin lymphoma, lymphocyte depletion		19223558
Hyper-igm immunodeficiency, with hypohidrotic ectodermal dysplasia	Hypohidrotic ectodermal dysplasia with immunodeficiency
Hypodontia	Hypodontia
Hypohidrosis	Hypohidrosis
Liver carcinoma	Liver carcinoma		22022477
Myocardial ischemia	Myocardial Ischemia		16214533
Nasopharyngeal cancer	Cancer of Nasopharynx		27647909
Palmoplantar pustules	Pustulosis of Palms and Soles		20953190
Pancreatic neoplasm	Pancreatic Neoplasm		15861417
Peg-shaped teeth	Peg-shaped teeth