Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID	1147
Gene name	Component of inhibitor of nuclear factor kappa B kinase complex
Gene symbol	CHUK
Synonyms (NCBI Gene)	BPS2IKBKAIKK-1IKK-alphaIKK1IKKANFKBIKATCF16
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

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

Show/Hide all (93)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005552	hsa-miR-15a-5p	Luciferase reporter assayqRT-PCRWestern blot	20711193
MIRT005552	hsa-miR-15a-5p	Luciferase reporter assayqRT-PCRWestern blot	20711193
MIRT005552	hsa-miR-15a-5p	Luciferase reporter assayqRT-PCRWestern blot	20711193
MIRT005552	hsa-miR-15a-5p	Luciferase reporter assayqRT-PCRWestern blot	20711193
MIRT005554	hsa-miR-16-5p	Luciferase reporter assayqRT-PCRWestern blot	20711193
MIRT005554	hsa-miR-16-5p	Luciferase reporter assayqRT-PCRWestern blot	20711193
MIRT005555	hsa-miR-223-3p	Luciferase reporter assayqRT-PCRWestern blot	20711193
MIRT005555	hsa-miR-223-3p	Luciferase reporter assayqRT-PCRWestern 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 assayWestern blottingImmunofluorescenceqRT-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

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Transcription factor	Regulation	Reference
ETS1	Activation	15469934
TP53	Repression	15469934

Show/Hide all (73)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0002221	Process	Pattern recognition receptor signaling pathway	IEA
GO:0003009	Process	Skeletal muscle contraction	IEA
GO:0004672	Function	Protein kinase activity	IDA	20434986
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	12656673
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	8246997, 9520446, 9751060, 10521409, 10733566, 11297557, 11971985, 12482991, 12486103, 12656673, 12730857, 14743216, 15125834, 15601829, 15749833, 16126728, 16129692, 16286467, 16319058, 16498412, 16938294, 17363973, 17568778, 18266467, 18268325, 18579519, 18922877, 19666608, 198753
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	30341167
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	9252186
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	34721373
GO:0006954	Process	Inflammatory response	IEA
GO:0006954	Process	Inflammatory response	TAS	18626576
GO:0006955	Process	Immune response	TAS	9346484
GO:0007249	Process	Canonical NF-kappaB signal transduction	IDA	1493333
GO:0007249	Process	Canonical NF-kappaB signal transduction	IDA	9244310, 9252186, 9346484, 20434986
GO:0007249	Process	Canonical NF-kappaB signal transduction	TAS	18626576
GO:0008384	Function	IkappaB kinase activity	IDA	9244310, 9252186, 9346484
GO:0008384	Function	IkappaB kinase activity	IEA
GO:0008384	Function	IkappaB kinase activity	TAS	9252186, 18626576
GO:0008385	Component	IkappaB kinase complex	IBA
GO:0008385	Component	IkappaB kinase complex	IEA
GO:0008385	Component	IkappaB kinase complex	IPI	20434986
GO:0008385	Component	IkappaB kinase complex	TAS	18626576
GO:0009410	Process	Response to xenobiotic stimulus	IEA
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:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0032088	Process	Negative regulation of NF-kappaB transcription factor activity	IMP	11536016
GO:0032727	Process	Positive regulation of interferon-alpha production	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
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IMP	12656673
GO:0034142	Process	Toll-like receptor 4 signaling pathway	IDA	7479976, 25355951
GO:0034142	Process	Toll-like receptor 4 signaling pathway	IDA	26189595
GO:0035631	Component	CD40 receptor complex	ISS
GO:0038061	Process	Non-canonical NF-kappaB signal transduction	IDA	12048232
GO:0038061	Process	Non-canonical NF-kappaB signal transduction	IDA	26189595
GO:0042803	Function	Protein homodimerization activity	IDA	23091055
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IBA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	12656673
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IMP	23487264
GO:0043200	Process	Response to amino acid	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0045087	Process	Innate immune response	TAS	18626576
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	23091055
GO:0046982	Function	Protein heterodimerization activity	IDA	23091055
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	TAS	18626576
GO:0051146	Process	Striated muscle cell differentiation	IEA
GO:0061847	Process	Response to cholecystokinin	IEA
GO:0071356	Process	Cellular response to tumor necrosis factor	IDA	23091055
GO:0097110	Function	Scaffold protein binding	IDA	23776175
GO:0097110	Function	Scaffold protein binding	IEA
GO:0098586	Process	Cellular response to virus	IEA
GO:0098586	Process	Cellular response to virus	IMP	24784232
GO:1990459	Function	Transferrin receptor binding	IEA
GO:1990459	Function	Transferrin receptor binding	IPI	23016877

MIM	HGNC	e!Ensembl
600664	1974	ENSG00000213341

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

Tissue specificity

TISSUE SPECIFICITY: Widely expressed.

Sequence

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

Sequence length

745

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Bartsocas-Papas syndrome 2	Pathogenic	rs2134229666	RCV001449668	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cocoon syndrome	Pathogenic	rs267606736	RCV000009502	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (22)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASES, DEVELOPMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHUK-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED IMMUNODEFICIENCY-HYPOGAMMAGLOBULINEMIA-SKELETAL ANOMALIES SYNDROME DUE TO IKBKA DEFICIENCY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF SKIN	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMB DEFORMITIES, CONGENITAL	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN ABNORMALITIES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (129)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	LHGDN	19050262		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29588349		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	29438366		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	29438366		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	Pubtator	39812688	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	23592772, 30463064		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	18367492		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases, Developmental	Bone Disease	CTD_human_DG	10346820		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	16357145, 23178494, 28006839		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15808510, 21575199, 23178494, 25377085, 28006839, 40650045	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	22149351, 26317791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	19331697, 27409165, 32265434	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21317297, 25736766, 30867890		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	27537390	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37847185	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	21170261	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	27049829		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	27537390		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	29620225	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	24215713		★★★★★ ★☆☆☆☆ Found in Text Mining only
COCOON SYNDROME	Cocoon Syndrome	ORPHANET_DG	20961246		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COCOON SYNDROME	Cocoon Syndrome	GENOMICS_ENGLAND_DG	20961246		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COCOON SYNDROME	Cocoon Syndrome	BEFREE	22197489, 25691407		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COCOON SYNDROME	Cocoon Syndrome	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COCOON SYNDROME	Cocoon Syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colonic Neoplasms	Colonic Neoplasms	BEFREE	22949302		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23041317		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	12771929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	12771929, 19513071, 35173303	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of external ear	Anotia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of mandible	Mandibular aplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	26215868		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	26215868, 34629811	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	10706733, 12507912, 12762338	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	LHGDN	18163512		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	31222033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	36139069	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	37223012	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	30054458		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	LHGDN	18633439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	18633439	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	BEFREE	22156202		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectodermal dysplasia hypohidrotic with immune deficiency	Ectodermal dysplasia	Pubtator	22156202	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1	Ectrodactyly	BEFREE	28513979		★★★★★ ★☆☆☆☆ Found in Text Mining only
Embryopathies	Embryopathy	CTD_human_DG	10195895, 10195896, 10346820, 20961246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	30259980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	27537390		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	39337357	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	23477746		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	20940109		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fetal Diseases	Fetal Diseases	CTD_human_DG	10195895, 10195896, 10346820, 20961246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fetal encasement syndrome	FETAL ENCASEMENT SYNDROME	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	39337357	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gingival Diseases	Gingival diseases	Pubtator	31743516	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23035900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23035900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	22093097	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hay-Wells syndrome	Hay-Wells syndrome	BEFREE	28513979		★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	23455325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	23455325	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	23708292	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogammaglobulinemia	Hypogammaglobulinemia	BEFREE	28513979		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of lower limb	Hypoplasia Of Lower Limb	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	35043517	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	29523099	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	22156202		★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	37223012	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	28006839		★★★★★ ★☆☆☆☆ Found in Text Mining only
Limb Deformities, Congenital	Congenital anomaly of limb	CTD_human_DG	10195895, 10195896, 10346820, 20961246		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver carcinoma	Liver carcinoma	BEFREE	21618535		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	30978214	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	LHGDN	18704119		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	17434128, 36823149	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	29588349, 30867890		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	22952582	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	18285351	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	23455325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16357145, 21575199, 23178494, 28006839		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	29702091		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	21317297, 25736766, 30867890		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	20207476, 21191633, 22496618, 25125658, 26094020, 27196761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	28881858, 28881859, 29959199		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11520600, 22149351, 22196886, 26317791, 27216153, 27537390, 28006839, 28646148, 29588349, 29706625, 31302002		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	16357145		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	22931929, 27744496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	35043517	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	22931929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CTD_human_DG	20961246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	19270264, 19934314, 21816815	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	23527154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	23826126		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA	Myeloproliferative Disorder with Eosinophilia	BEFREE	29445180		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30935640		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	36139069	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	24739462, 26317791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	24739462, 26739838	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21191633, 21317297, 22149351, 22196886, 23041317, 23487264, 23597566, 26317791, 27049829, 27196761, 28006839, 29159834, 29438366, 29588349, 30867890, 31302002 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephritis Interstitial	Interstitial nephritis	Pubtator	18285351	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	29159834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	23477746		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30867890, 31173238		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	28006839		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	33636333, 34737366	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	30463064		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	18829575		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	16036106	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	15166955	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	22149351, 24290756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Popliteal pterygium syndrome	Popliteal Pterygium Syndrome	BEFREE	25691407		★★★★★ ★☆☆☆☆ Found in Text Mining only
POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE	Bartsocas-Papas syndrome	BEFREE	25691407		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	20940109		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	20207476, 21191633, 22496618, 25125658, 26094020, 27196761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17616684, 18512729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21191633, 23894194, 25125658, 28208611, 33258506	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	30291224	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	39812688	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	12847684, 27936459		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	22149351, 24290756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	18604171		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	21174543, 22149351, 23597566, 24290756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	23455325, 28435450, 34060226, 35176168, 40650045	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	26317791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	23477746		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	39337357	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	28077500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30564555		★★★★★ ★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	29159834	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

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