CHUK (component of inhibitor of nuclear factor kappa B kinase complex)

Gene

• Entrez ID: 1147
• Gene name: Component of inhibitor of nuclear factor kappa B kinase complex
• Gene symbol: CHUK
• Synonyms: BPS2, IKBKA, IKK-1, IKK-alpha, IKK1, IKKA, NFKBIKA, TCF16
• Chromosome: 10
• Chromosome location: 10q24.31
• Summary: This gene encodes a member of the serine/threonine protein kinase family. The encoded protein, a component of a cytokine-activated protein complex that is an inhibitor of the essential transcription factor NF-kappa-B complex, phosphorylates sites that tri

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs267606736	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005552	hsa-miR-15a-5p	Luciferase reporter assay, qRT-PCR, Western blot	20711193
MIRT005552	hsa-miR-15a-5p	Luciferase reporter assay, qRT-PCR, Western blot	20711193
MIRT005552	hsa-miR-15a-5p	Luciferase reporter assay, qRT-PCR, Western blot	20711193
MIRT005552	hsa-miR-15a-5p	Luciferase reporter assay, qRT-PCR, Western blot	20711193
MIRT005554	hsa-miR-16-5p	Luciferase reporter assay, qRT-PCR, Western blot	20711193
MIRT005554	hsa-miR-16-5p	Luciferase reporter assay, qRT-PCR, Western blot	20711193
MIRT005555	hsa-miR-223-3p	Luciferase reporter assay, qRT-PCR, Western blot	20711193
MIRT005555	hsa-miR-223-3p	Luciferase reporter assay, qRT-PCR, Western blot	20711193
MIRT007041	hsa-miR-23b-3p	Luciferase reporter assay	22660635
MIRT007169	hsa-miR-195-5p	Luciferase reporter assay	23487264
MIRT007169	hsa-miR-195-5p	Luciferase reporter assay	23487264
MIRT005555	hsa-miR-223-3p	Luciferase reporter assay, Western blotting, Immunofluorescence, qRT-PCR	33688203
MIRT892923	hsa-miR-1303	CLIP-seq
MIRT892924	hsa-miR-15a	CLIP-seq
MIRT892925	hsa-miR-15b	CLIP-seq
MIRT892926	hsa-miR-16	CLIP-seq
MIRT892927	hsa-miR-195	CLIP-seq
MIRT892928	hsa-miR-3121-3p	CLIP-seq
MIRT892929	hsa-miR-3188	CLIP-seq
MIRT892930	hsa-miR-3662	CLIP-seq
MIRT892931	hsa-miR-377	CLIP-seq
MIRT892932	hsa-miR-424	CLIP-seq
MIRT892933	hsa-miR-4452	CLIP-seq
MIRT892934	hsa-miR-4536	CLIP-seq
MIRT892935	hsa-miR-4799-5p	CLIP-seq
MIRT892936	hsa-miR-497	CLIP-seq
MIRT892937	hsa-miR-545	CLIP-seq
MIRT892938	hsa-miR-548p	CLIP-seq
MIRT892939	hsa-miR-877	CLIP-seq
MIRT892940	hsa-miR-888	CLIP-seq
MIRT1964660	hsa-miR-2110	CLIP-seq
MIRT1964661	hsa-miR-3144-5p	CLIP-seq
MIRT1964662	hsa-miR-3150a-3p	CLIP-seq
MIRT1964663	hsa-miR-3191	CLIP-seq
MIRT1964664	hsa-miR-4260	CLIP-seq
MIRT1964665	hsa-miR-4464	CLIP-seq
MIRT1964666	hsa-miR-4652-5p	CLIP-seq
MIRT1964667	hsa-miR-4659a-3p	CLIP-seq
MIRT1964668	hsa-miR-4659b-3p	CLIP-seq
MIRT1964669	hsa-miR-4748	CLIP-seq
MIRT1964670	hsa-miR-513a-3p	CLIP-seq
MIRT1964671	hsa-miR-587	CLIP-seq
MIRT892924	hsa-miR-15a	CLIP-seq
MIRT892925	hsa-miR-15b	CLIP-seq
MIRT892926	hsa-miR-16	CLIP-seq
MIRT892927	hsa-miR-195	CLIP-seq
MIRT1964660	hsa-miR-2110	CLIP-seq
MIRT1964661	hsa-miR-3144-5p	CLIP-seq
MIRT1964662	hsa-miR-3150a-3p	CLIP-seq
MIRT1964663	hsa-miR-3191	CLIP-seq
MIRT2200783	hsa-miR-323-3p	CLIP-seq
MIRT892932	hsa-miR-424	CLIP-seq
MIRT1964664	hsa-miR-4260	CLIP-seq
MIRT1964665	hsa-miR-4464	CLIP-seq
MIRT2200784	hsa-miR-4468	CLIP-seq
MIRT2200785	hsa-miR-4504	CLIP-seq
MIRT1964666	hsa-miR-4652-5p	CLIP-seq
MIRT1964667	hsa-miR-4659a-3p	CLIP-seq
MIRT1964668	hsa-miR-4659b-3p	CLIP-seq
MIRT2200786	hsa-miR-4731-3p	CLIP-seq
MIRT1964669	hsa-miR-4748	CLIP-seq
MIRT2200787	hsa-miR-4801	CLIP-seq
MIRT892936	hsa-miR-497	CLIP-seq
MIRT892937	hsa-miR-545	CLIP-seq
MIRT892938	hsa-miR-548p	CLIP-seq
MIRT2200788	hsa-miR-549	CLIP-seq
MIRT1964671	hsa-miR-587	CLIP-seq
MIRT2386093	hsa-miR-3154	CLIP-seq
MIRT2386094	hsa-miR-374c	CLIP-seq
MIRT2386095	hsa-miR-376c	CLIP-seq
MIRT2386096	hsa-miR-4678	CLIP-seq
MIRT2386097	hsa-miR-655	CLIP-seq
MIRT1964664	hsa-miR-4260	CLIP-seq
MIRT2447063	hsa-miR-4272	CLIP-seq
MIRT2503492	hsa-miR-1244	CLIP-seq
MIRT2503493	hsa-miR-2113	CLIP-seq
MIRT2503494	hsa-miR-3117-5p	CLIP-seq
MIRT2386093	hsa-miR-3154	CLIP-seq
MIRT2503495	hsa-miR-3189-3p	CLIP-seq
MIRT2200783	hsa-miR-323-3p	CLIP-seq
MIRT2386094	hsa-miR-374c	CLIP-seq
MIRT2386095	hsa-miR-376c	CLIP-seq
MIRT2503496	hsa-miR-382	CLIP-seq
MIRT2503497	hsa-miR-3942-3p	CLIP-seq
MIRT1964664	hsa-miR-4260	CLIP-seq
MIRT2503498	hsa-miR-448	CLIP-seq
MIRT2386096	hsa-miR-4678	CLIP-seq
MIRT2503499	hsa-miR-4760-5p	CLIP-seq
MIRT2503500	hsa-miR-486-3p	CLIP-seq
MIRT2503501	hsa-miR-548n	CLIP-seq
MIRT2503502	hsa-miR-590-3p	CLIP-seq
MIRT2386097	hsa-miR-655	CLIP-seq
MIRT2503503	hsa-miR-935	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ETS1	Activation	15469934
TP53	Repression	15469934

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002223	Process	Stimulatory C-type lectin receptor signaling pathway	TAS
GO:0002479	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	TAS
GO:0002756	Process	MyD88-independent toll-like receptor signaling pathway	TAS
GO:0003009	Process	Skeletal muscle contraction	IEA
GO:0004672	Function	Protein kinase activity	IDA	20434986
GO:0004674	Function	Protein serine/threonine kinase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	8246997, 9520446, 9751060, 10521409, 10733566, 11297557, 11971985, 12482991, 12486103, 12730857, 14743216, 15125834, 15601829, 15749833, 16126728, 16129692, 16286467, 16319058, 16498412, 16938294, 17363973, 17568778, 17620599, 18266467, 18268325, 18579519, 18922877, 19666608, 198753
GO:0005524	Function	ATP binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	30341167
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006468	Process	Protein phosphorylation	IDA	20434986
GO:0006954	Process	Inflammatory response	TAS	18626576
GO:0006955	Process	Immune response	TAS	9346484
GO:0007249	Process	I-kappaB kinase/NF-kappaB signaling	IMP	26514923
GO:0007249	Process	I-kappaB kinase/NF-kappaB signaling	TAS	18626576
GO:0007252	Process	I-kappaB phosphorylation	TAS	9252186
GO:0007266	Process	Rho protein signal transduction	IEA
GO:0008384	Function	IkappaB kinase activity	IBA	21873635
GO:0008384	Function	IkappaB kinase activity	TAS	18626576
GO:0008385	Component	IkappaB kinase complex	IBA	21873635
GO:0008385	Component	IkappaB kinase complex	TAS	18626576
GO:0009615	Process	Response to virus	TAS	18626576
GO:0009636	Process	Response to toxic substance	IEA
GO:0009653	Process	Anatomical structure morphogenesis	TAS	10747982
GO:0009898	Component	Cytoplasmic side of plasma membrane	ISS
GO:0010034	Process	Response to acetate	IEA
GO:0010803	Process	Regulation of tumor necrosis factor-mediated signaling pathway	TAS
GO:0018105	Process	Peptidyl-serine phosphorylation	IBA	21873635
GO:0032088	Process	Negative regulation of NF-kappaB transcription factor activity	IMP	11536016
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0032727	Process	Positive regulation of interferon-alpha production	IMP	24784232
GO:0033194	Process	Response to hydroperoxide	IEA
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IBA	21873635
GO:0034614	Process	Cellular response to reactive oxygen species	IMP	26514923
GO:0035631	Component	CD40 receptor complex	ISS
GO:0035666	Process	TRIF-dependent toll-like receptor signaling pathway	TAS
GO:0038061	Process	NIK/NF-kappaB signaling	IMP	26514923
GO:0038061	Process	NIK/NF-kappaB signaling	TAS
GO:0038095	Process	Fc-epsilon receptor signaling pathway	TAS
GO:0042493	Process	Response to drug	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	23091055
GO:0043123	Process	Positive regulation of I-kappaB kinase/NF-kappaB signaling	IMP	23487264
GO:0043123	Process	Positive regulation of I-kappaB kinase/NF-kappaB signaling	TAS
GO:0043200	Process	Response to amino acid	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045087	Process	Innate immune response	TAS	18626576
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IMP	26514923
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA	21873635
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	23091055
GO:0046982	Function	Protein heterodimerization activity	IDA	23091055
GO:0050852	Process	T cell receptor signaling pathway	TAS
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IBA	21873635
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	TAS	18626576
GO:0051146	Process	Striated muscle cell differentiation	IEA
GO:0051403	Process	Stress-activated MAPK cascade	TAS
GO:0061847	Process	Response to cholecystokinin	IEA
GO:0070498	Process	Interleukin-1-mediated signaling pathway	TAS
GO:0071276	Process	Cellular response to cadmium ion	IMP	26514923
GO:0071356	Process	Cellular response to tumor necrosis factor	IDA	23091055
GO:0097110	Function	Scaffold protein binding	IDA	23776175
GO:0098586	Process	Cellular response to virus	IMP	24784232
GO:1990459	Function	Transferrin receptor binding	IPI	23016877

Other IDs

• MIM: 600664
• HGNC: 1974
• e!Ensembl: ENSG00000213341

Protein

• UniProt ID: O15111
• Protein name: Inhibitor of nuclear factor kappa-B kinase subunit alpha (I-kappa-B kinase alpha) (IKK-A) (IKK-alpha) (IkBKA) (IkappaB kinase) (EC 2.7.11.10) (Conserved helix-loop-helix ubiquitous kinase) (I-kappa-B kinase 1) (IKK-1) (IKK1) (Nuclear factor NF-kappa-B inh
• Protein function: Serine kinase that plays an essential role in the NF-kappa-B signaling pathway which is activated by multiple stimuli such as inflammatory cytokines, bacterial or viral products, DNA damages or other cellular stresses (PubMed:18626576, PubMed:92
• PDB: 3BRT, 5EBZ, 5TQW, 5TQX, 5TQY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	15 → 298	Protein kinase domain	Domain
  PF18397	IKBKB_SDD	386 → 659	IQBAL scaffold dimerization domain	Domain
  PF12179	IKKbetaNEMObind	707 → 743	I-kappa-kinase-beta NEMO binding domain	Domain

• Sequence:

  MERPPGLRPGAGGPWEMRERLGTGGFGNVCLYQHRELDLKIAIKSCRLELSTKNRERWCH
  EIQIMKKLNHANVVKACDVPEELNILIHDVPLLAMEYCSGGDLRKLLNKPENCCGLKESQ
  ILSLLSDIGSGIRYLHENKIIHRDLKPENIVLQDVGGKIIHKIIDLGYAKDVDQGSLCTS
  FVGTLQYLAPELFENKPYTATVDYWSFGTMVFECIAGYRPFLHHLQPFTWHEKIKKKDPK
  CIFACEEMSGEVRFSSHLPQPNSLCSLVVEPMENWLQLMLNWDPQQRGGPVDLTLKQPRC
  FVLMDHILNLKIVHILNMTSAKIISFLLPPDESLHSLQSRIERETGINTGSQELLSETGI
  SLDPRKPASQCVLDGVRGCDSYMVYLFDKSKTVYEGPFASRSLSDCVNYIVQDSKIQLPI
  IQLRKVWAEAVHYVSGLKEDYSRLFQGQRAAMLSLLRYNANLTKMKNTLISASQQLKAKL
  EFFHKSIQLDLERYSEQMTYGISSEKMLKAWKEMEEKAIHYAEVGVIGYLEDQIMSLHAE
  IMELQKSPYGRRQGDLMESLEQRAIDLYKQLKHRPSDHSYSDSTEMVKIIVHTVQSQDRV
  LKELFGHLSKLLGCKQKIIDLLPKVEVALSNIKEADNTVMFMQGKRQKEIWHLLKIACTQ
  SSARSLVGSSLEGAVTPQTSAWLPPTSAEHDHSLSCVVTPQDGETSAQMIEENLNCLGHL
  STIIHEANEEQGNSMMNLDWSWLTE

• Sequence length: 745

Pathways

KEGG:

Antifolate resistance
MAPK signaling pathway
Ras signaling pathway
Chemokine signaling pathway
NF-kappa B signaling pathway
FoxO signaling pathway
mTOR signaling pathway
PI3K-Akt 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
Adipocytokine signaling pathway
Alcoholic liver disease
Alzheimer disease
Epithelial cell signaling in Helicobacter pylori infection
Pathogenic Escherichia coli infection
Shigellosis
Salmonella infection
Yersinia infection
Chagas disease
Toxoplasmosis
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
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
Lipid and atherosclerosis
Fluid shear stress and atherosclerosis

Reactome:

Activation of NF-kappaB in B cells
ER-Phagosome pathway
NOD1/2 Signaling Pathway
TICAM1, RIP1-mediated IKK complex recruitment
RIP-mediated NFkB activation via ZBP1
AKT phosphorylates targets in the cytosol
Downstream TCR signaling
FCERI mediated NF-kB activation
TAK1 activates NFkB by phosphorylation and activation of IKKs complex
Regulation of TNFR1 signaling
TNFR1-induced NFkappaB signaling pathway
IKBKB deficiency causes SCID
IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR)
IkBA variant leads to EDA-ID
Dectin-1 mediated noncanonical NF-kB signaling
CLEC7A (Dectin-1) signaling
Constitutive Signaling by AKT1 E17K in Cancer
NIK-->noncanonical NF-kB signaling
MAP3K8 (TPL2)-dependent MAPK1/3 activation
Interleukin-1 signaling
TRAF6 mediated NF-kB activation
NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
IRAK1 recruits IKK complex
IKK complex recruitment mediated by RIP1
IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Cocoon syndrome	COCOON SYNDROME	rs267606736	20961246
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	30054458
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	20961246

Unknown
Disease name	Disease term	dbSNP ID	References
Bone disease	Bone Diseases, Developmental		10346820
Anotia	Congenital absence of external ear
Mandibular aplasia	Congenital absence of mandible
Congenital anomaly of limb	Limb Deformities, Congenital		20961246, 10195896, 10346820, 10195895
Congenital omphalocele	Congenital omphalocele
Embryopathy	Embryopathies		20961246, 10195895, 10195896, 10346820
Fetal diseases	Fetal Diseases		10195895, 20961246, 10346820, 10195896
Fetal encasement syndrome	Fetal encasement syndrome
Hypoplasia of lower limb	Hypoplasia of lower limb