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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	84181
Gene name	Chromodomain helicase DNA binding protein 6
Gene symbol	CHD6
Synonyms (NCBI Gene)	CHD-6CHD5RIGB
Chromosome	20
Chromosome location	20q12
Summary	This gene encodes a member of the SNF2/RAD54 helicase protein family. The encoded protein contains two chromodomains, a helicase domain, and an ATPase domain. Several multi-subunit protein complexes remodel chromatin to allow patterns of cell type-specifi

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miRTarBase ID	miRNA	Experiments	Reference
MIRT016929	hsa-miR-335-5p	Microarray	18185580
MIRT889230	hsa-miR-1265	CLIP-seq
MIRT889231	hsa-miR-1287	CLIP-seq
MIRT889232	hsa-miR-1296	CLIP-seq
MIRT889233	hsa-miR-1324	CLIP-seq
MIRT889234	hsa-miR-141	CLIP-seq
MIRT889235	hsa-miR-200a	CLIP-seq
MIRT889236	hsa-miR-200b	CLIP-seq
MIRT889237	hsa-miR-200c	CLIP-seq
MIRT889238	hsa-miR-221	CLIP-seq
MIRT889239	hsa-miR-222	CLIP-seq
MIRT889240	hsa-miR-2277-3p	CLIP-seq
MIRT889241	hsa-miR-2909	CLIP-seq
MIRT889242	hsa-miR-3065-5p	CLIP-seq
MIRT889243	hsa-miR-3135b	CLIP-seq
MIRT889244	hsa-miR-3143	CLIP-seq
MIRT889245	hsa-miR-3146	CLIP-seq
MIRT889246	hsa-miR-3154	CLIP-seq
MIRT889247	hsa-miR-3161	CLIP-seq
MIRT889248	hsa-miR-3609	CLIP-seq
MIRT889249	hsa-miR-3647-3p	CLIP-seq
MIRT889250	hsa-miR-369-3p	CLIP-seq
MIRT889251	hsa-miR-374a	CLIP-seq
MIRT889252	hsa-miR-374b	CLIP-seq
MIRT889253	hsa-miR-3920	CLIP-seq
MIRT889254	hsa-miR-3923	CLIP-seq
MIRT889255	hsa-miR-429	CLIP-seq
MIRT889256	hsa-miR-4310	CLIP-seq
MIRT889257	hsa-miR-4434	CLIP-seq
MIRT889258	hsa-miR-4436b-3p	CLIP-seq
MIRT889259	hsa-miR-4436b-5p	CLIP-seq
MIRT889260	hsa-miR-4475	CLIP-seq
MIRT889261	hsa-miR-4504	CLIP-seq
MIRT889262	hsa-miR-4516	CLIP-seq
MIRT889263	hsa-miR-451b	CLIP-seq
MIRT889264	hsa-miR-4522	CLIP-seq
MIRT889265	hsa-miR-4528	CLIP-seq
MIRT889266	hsa-miR-4531	CLIP-seq
MIRT889267	hsa-miR-4661-5p	CLIP-seq
MIRT889268	hsa-miR-4699-5p	CLIP-seq
MIRT889269	hsa-miR-4709-3p	CLIP-seq
MIRT889270	hsa-miR-4716-3p	CLIP-seq
MIRT889271	hsa-miR-4738-3p	CLIP-seq
MIRT889272	hsa-miR-4761-3p	CLIP-seq
MIRT889273	hsa-miR-4764-5p	CLIP-seq
MIRT889274	hsa-miR-4786-5p	CLIP-seq
MIRT889275	hsa-miR-4796-5p	CLIP-seq
MIRT889276	hsa-miR-493	CLIP-seq
MIRT889277	hsa-miR-498	CLIP-seq
MIRT889278	hsa-miR-514	CLIP-seq
MIRT889279	hsa-miR-514b-3p	CLIP-seq
MIRT889280	hsa-miR-539	CLIP-seq
MIRT889281	hsa-miR-542-3p	CLIP-seq
MIRT889282	hsa-miR-548aa	CLIP-seq
MIRT889283	hsa-miR-548ac	CLIP-seq
MIRT889284	hsa-miR-548ah	CLIP-seq
MIRT889285	hsa-miR-548d-3p	CLIP-seq
MIRT889286	hsa-miR-548t	CLIP-seq
MIRT889287	hsa-miR-548v	CLIP-seq
MIRT889288	hsa-miR-548z	CLIP-seq
MIRT889289	hsa-miR-549	CLIP-seq
MIRT889290	hsa-miR-579	CLIP-seq
MIRT889291	hsa-miR-582-3p	CLIP-seq
MIRT889292	hsa-miR-624	CLIP-seq
MIRT889293	hsa-miR-625	CLIP-seq
MIRT889294	hsa-miR-628-3p	CLIP-seq
MIRT889295	hsa-miR-769-5p	CLIP-seq
MIRT889296	hsa-miR-802	CLIP-seq
MIRT1963543	hsa-miR-103a	CLIP-seq
MIRT1963544	hsa-miR-103b	CLIP-seq
MIRT1963545	hsa-miR-107	CLIP-seq
MIRT1963546	hsa-miR-1278	CLIP-seq
MIRT889233	hsa-miR-1324	CLIP-seq
MIRT1963547	hsa-miR-1539	CLIP-seq
MIRT1963548	hsa-miR-15a	CLIP-seq
MIRT1963549	hsa-miR-15b	CLIP-seq
MIRT1963550	hsa-miR-16	CLIP-seq
MIRT1963551	hsa-miR-195	CLIP-seq
MIRT889240	hsa-miR-2277-3p	CLIP-seq
MIRT1963552	hsa-miR-2278	CLIP-seq
MIRT1963553	hsa-miR-3121-3p	CLIP-seq
MIRT1963554	hsa-miR-3133	CLIP-seq
MIRT889244	hsa-miR-3143	CLIP-seq
MIRT1963555	hsa-miR-3173-5p	CLIP-seq
MIRT1963556	hsa-miR-3193	CLIP-seq
MIRT1963557	hsa-miR-339-5p	CLIP-seq
MIRT1963558	hsa-miR-361-3p	CLIP-seq
MIRT1963559	hsa-miR-376a	CLIP-seq
MIRT1963560	hsa-miR-376b	CLIP-seq
MIRT889253	hsa-miR-3920	CLIP-seq
MIRT1963561	hsa-miR-3976	CLIP-seq
MIRT1963562	hsa-miR-424	CLIP-seq
MIRT889256	hsa-miR-4310	CLIP-seq
MIRT889257	hsa-miR-4434	CLIP-seq
MIRT889259	hsa-miR-4436b-5p	CLIP-seq
MIRT889261	hsa-miR-4504	CLIP-seq
MIRT889262	hsa-miR-4516	CLIP-seq
MIRT889263	hsa-miR-451b	CLIP-seq
MIRT889266	hsa-miR-4531	CLIP-seq
MIRT889267	hsa-miR-4661-5p	CLIP-seq
MIRT1963563	hsa-miR-4698	CLIP-seq
MIRT889268	hsa-miR-4699-5p	CLIP-seq
MIRT889269	hsa-miR-4709-3p	CLIP-seq
MIRT1963564	hsa-miR-4724-5p	CLIP-seq
MIRT1963565	hsa-miR-4742-3p	CLIP-seq
MIRT1963566	hsa-miR-4778-3p	CLIP-seq
MIRT1963567	hsa-miR-4802-3p	CLIP-seq
MIRT1963568	hsa-miR-497	CLIP-seq
MIRT889277	hsa-miR-498	CLIP-seq
MIRT1963569	hsa-miR-499a-5p	CLIP-seq
MIRT889278	hsa-miR-514	CLIP-seq
MIRT889279	hsa-miR-514b-3p	CLIP-seq
MIRT889281	hsa-miR-542-3p	CLIP-seq
MIRT1963570	hsa-miR-548a-3p	CLIP-seq
MIRT1963571	hsa-miR-548e	CLIP-seq
MIRT1963572	hsa-miR-548f	CLIP-seq
MIRT889290	hsa-miR-579	CLIP-seq
MIRT1963546	hsa-miR-1278	CLIP-seq
MIRT889233	hsa-miR-1324	CLIP-seq
MIRT2199956	hsa-miR-3682-5p	CLIP-seq
MIRT2199957	hsa-miR-3688-3p	CLIP-seq
MIRT889253	hsa-miR-3920	CLIP-seq
MIRT2199958	hsa-miR-4261	CLIP-seq
MIRT889256	hsa-miR-4310	CLIP-seq
MIRT2199959	hsa-miR-4330	CLIP-seq
MIRT889259	hsa-miR-4436b-5p	CLIP-seq
MIRT889261	hsa-miR-4504	CLIP-seq
MIRT889265	hsa-miR-4528	CLIP-seq
MIRT889268	hsa-miR-4699-5p	CLIP-seq
MIRT889269	hsa-miR-4709-3p	CLIP-seq
MIRT1963564	hsa-miR-4724-5p	CLIP-seq
MIRT1963569	hsa-miR-499a-5p	CLIP-seq
MIRT889281	hsa-miR-542-3p	CLIP-seq
MIRT1963570	hsa-miR-548a-3p	CLIP-seq
MIRT1963571	hsa-miR-548e	CLIP-seq
MIRT1963572	hsa-miR-548f	CLIP-seq
MIRT2199960	hsa-miR-550b	CLIP-seq
MIRT2199961	hsa-miR-7	CLIP-seq
MIRT2199962	hsa-miR-890	CLIP-seq
MIRT889259	hsa-miR-4436b-5p	CLIP-seq
MIRT2446996	hsa-miR-3185	CLIP-seq
MIRT2446997	hsa-miR-3915	CLIP-seq
MIRT2446998	hsa-miR-3928	CLIP-seq
MIRT2502669	hsa-miR-2110	CLIP-seq
MIRT2502670	hsa-miR-2682	CLIP-seq
MIRT2502671	hsa-miR-302a	CLIP-seq
MIRT2502672	hsa-miR-302b	CLIP-seq
MIRT2502673	hsa-miR-302c	CLIP-seq
MIRT2502674	hsa-miR-302d	CLIP-seq
MIRT2502675	hsa-miR-302e	CLIP-seq
MIRT889244	hsa-miR-3143	CLIP-seq
MIRT889246	hsa-miR-3154	CLIP-seq
MIRT2446996	hsa-miR-3185	CLIP-seq
MIRT2502676	hsa-miR-3673	CLIP-seq
MIRT2502677	hsa-miR-372	CLIP-seq
MIRT2502678	hsa-miR-373	CLIP-seq
MIRT2446997	hsa-miR-3915	CLIP-seq
MIRT2446998	hsa-miR-3928	CLIP-seq
MIRT2502679	hsa-miR-409-3p	CLIP-seq
MIRT2502680	hsa-miR-4264	CLIP-seq
MIRT2502681	hsa-miR-4271	CLIP-seq
MIRT2502682	hsa-miR-4277	CLIP-seq
MIRT2502683	hsa-miR-4423-3p	CLIP-seq
MIRT889257	hsa-miR-4434	CLIP-seq
MIRT889259	hsa-miR-4436b-5p	CLIP-seq
MIRT889260	hsa-miR-4475	CLIP-seq
MIRT2502684	hsa-miR-449c	CLIP-seq
MIRT889262	hsa-miR-4516	CLIP-seq
MIRT889266	hsa-miR-4531	CLIP-seq
MIRT2502685	hsa-miR-4662a-3p	CLIP-seq
MIRT889268	hsa-miR-4699-5p	CLIP-seq
MIRT889269	hsa-miR-4709-3p	CLIP-seq
MIRT2502686	hsa-miR-4725-3p	CLIP-seq
MIRT889274	hsa-miR-4786-5p	CLIP-seq
MIRT2502687	hsa-miR-4797-3p	CLIP-seq
MIRT1963567	hsa-miR-4802-3p	CLIP-seq
MIRT2502688	hsa-miR-488	CLIP-seq
MIRT889276	hsa-miR-493	CLIP-seq
MIRT2502689	hsa-miR-512-3p	CLIP-seq
MIRT2502690	hsa-miR-520a-3p	CLIP-seq
MIRT2502691	hsa-miR-520b	CLIP-seq
MIRT2502692	hsa-miR-520c-3p	CLIP-seq
MIRT2502693	hsa-miR-520d-3p	CLIP-seq
MIRT2502694	hsa-miR-520e	CLIP-seq
MIRT889295	hsa-miR-769-5p	CLIP-seq
MIRT2502695	hsa-miR-940	CLIP-seq
MIRT2502669	hsa-miR-2110	CLIP-seq
MIRT2502670	hsa-miR-2682	CLIP-seq
MIRT2502671	hsa-miR-302a	CLIP-seq
MIRT2502672	hsa-miR-302b	CLIP-seq
MIRT2502673	hsa-miR-302c	CLIP-seq
MIRT2502674	hsa-miR-302d	CLIP-seq
MIRT2502675	hsa-miR-302e	CLIP-seq
MIRT889244	hsa-miR-3143	CLIP-seq
MIRT889246	hsa-miR-3154	CLIP-seq
MIRT2446996	hsa-miR-3185	CLIP-seq
MIRT2502677	hsa-miR-372	CLIP-seq
MIRT2502678	hsa-miR-373	CLIP-seq
MIRT2446997	hsa-miR-3915	CLIP-seq
MIRT2446998	hsa-miR-3928	CLIP-seq
MIRT2502680	hsa-miR-4264	CLIP-seq
MIRT2502681	hsa-miR-4271	CLIP-seq
MIRT2502682	hsa-miR-4277	CLIP-seq
MIRT2502683	hsa-miR-4423-3p	CLIP-seq
MIRT889257	hsa-miR-4434	CLIP-seq
MIRT889260	hsa-miR-4475	CLIP-seq
MIRT2502684	hsa-miR-449c	CLIP-seq
MIRT889262	hsa-miR-4516	CLIP-seq
MIRT889266	hsa-miR-4531	CLIP-seq
MIRT2502686	hsa-miR-4725-3p	CLIP-seq
MIRT889274	hsa-miR-4786-5p	CLIP-seq
MIRT2502687	hsa-miR-4797-3p	CLIP-seq
MIRT1963567	hsa-miR-4802-3p	CLIP-seq
MIRT2502688	hsa-miR-488	CLIP-seq
MIRT889276	hsa-miR-493	CLIP-seq
MIRT2502689	hsa-miR-512-3p	CLIP-seq
MIRT2502690	hsa-miR-520a-3p	CLIP-seq
MIRT2502691	hsa-miR-520b	CLIP-seq
MIRT2502692	hsa-miR-520c-3p	CLIP-seq
MIRT2502693	hsa-miR-520d-3p	CLIP-seq
MIRT2502694	hsa-miR-520e	CLIP-seq
MIRT889295	hsa-miR-769-5p	CLIP-seq
MIRT2502695	hsa-miR-940	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000785	Component	Chromatin	IBA
GO:0001221	Function	Transcription coregulator binding	IPI	16314513
GO:0003677	Function	DNA binding	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IBA
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	17027977
GO:0005654	Component	Nucleoplasm	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IBA
GO:0008094	Function	ATP-dependent activity, acting on DNA	IDA	17027977
GO:0010468	Process	Regulation of gene expression	IBA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IBA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0042393	Function	Histone binding	IBA
GO:0045454	Process	Cell redox homeostasis	IMP	16314513
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	16314513
GO:0140658	Function	ATP-dependent chromatin remodeler activity	IBA

MIM	HGNC	e!Ensembl
616114	19057	ENSG00000124177

Q8TD26

Protein name

Chromodomain-helicase-DNA-binding protein 6 (CHD-6) (EC 3.6.4.-) (ATP-dependent helicase CHD6) (Radiation-induced gene B protein)

Protein function

ATP-dependent chromatin-remodeling factor (PubMed:17027977, PubMed:28533432). Regulates transcription by disrupting nucleosomes in a largely non-sliding manner which strongly increases the accessibility of chromatin; nucleosome disruption requir

PDB

2EPB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00385	Chromo	292 → 354	Chromo (CHRromatin Organisation MOdifier) domain	Domain
PF00385	Chromo	375 → 429	Chromo (CHRromatin Organisation MOdifier) domain	Domain
PF00176	SNF2_N	436 → 751	SNF2 family N-terminal domain	Family
PF00271	Helicase_C	783 → 897	Helicase conserved C-terminal domain	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed.

Sequence

MKMKIQKKEKQLSNLKVLNHSPMSDASVNFDYKSPSPFDCSTDQEEKIEDVASHCLPQKD
LYTAEEEAATLFPRKMTSHNGMEDSGGGGTGVKKKRKKKEPGDQEGAAKGSKDREPKPKR
KREPKEPKEPRKAKEPKKAKEHKEPKQKDGAKKARKPREASGTKEAKEKRSCTDSAARTK
SRKASKEQGPTPVEKKKKGKRKSETTVESLELDQGLTNPSLRSPEESTESTDSQKRRSGR
QVKRRKYNEDLDFKVVDDDGETIAVLGAGRTSALSASTLAWQAEEPPEDDANIIEKILAS
KTVQEVHPGEPPFDLELFYVKYRNFSYLHCKWATMEELEKDPRIAQKIKRFRNKQAQMKH
IFTEPDEDLFNPDYVEVDRILEVAHTKDAETGEEVTHYLVKWCSLPYEESTWELEEDVDP
AKVKEFESLQVLPEIKHVERPASDSWQKLEKSREYKNSNQLREYQLEGMNWLLFNWYNRK
NCILADEMGLGKTIQSITFLSEIFLRGIHGPFLIIAPLSTITNWEREFRTWTEMNAIVYH
GSQISRQMIQQYEMVYRDAQGNPLSGVFKFHVVITTFEMILADCPELKKIHWSCVIIDEA
HRLKNRNCKLLEGLKLMALEHKVLLTGTPLQNSVEELFSLLNFLEPSQFPSETAFLEEFG
DLKTEEQVKKLQSILKPMMLRRLKDDVEKNLAPKQETIIEVELTNIQKKYYRAILEKNFS
FLTKGANQHNMPNLINTMMELRKCCNHPYLINGAEEKILEDFRKTHSPDAPDFQLQAMIQ
AAGKLVLIDKLLPKLIAGGHKVLIFSQMVRCLDILEDYLIQRRYTYERIDGRVRGNLRQA
AIDRFCKPDSDRFVFLLCTRAGGLGINLTAADTCIIFDSDWNPQNDLQAQARCHRIGQSK
AVKVYRLITRNSYEREMFDKASLKLGLDKAVLQDINRKGGTNGVQQLSKMEVEDLLRKGA
YGALMDEEDEGSKFCEEDIDQILQRRTHTITIQSEGKGSTFAKASFVASGNRTDISLDDP
NFWQKWAKIAELDTEAKNEKESLVIDRPRVRKQTKHYNSFEEDELMEFSELDSDSDERPT
RSRRLNDKARRYLRAECFRVEKNLLIFGWGRWKDILTHGRFKWHLNEKDMEMICRALLVY
CVKHYKGDEKIKSFIWELITPTKDGQAQTLQNHSGLSAPVPRGRKGKKTKNQLLIPELKD
ADWLATCNPEVVLHDDGYKKHLKQHCNKVLLRVRMLYYLKAEILGEAAEKAFEGSPAREL
DVPLPDIDYMEIPVDWWDAEADKSLLIGVFKHGYERYNAMRADPALCFLEKVGMPDEKSL
SAEQGVTDGTSDIPERGNTDKEDNAEDKVDGLQKQTESSSDGGDGVFSEKKDDSRAAQDG
SDPDKSPWPVSSALTARLRRLVTVYQRCNRKELCRPEILGPGNQGYWVQEEMFRRTSEMD
LINKEAQKRWTRREQADFYRTVSSFGVVYDQEKKTFDWTQFRIISRLDKKSDESLEQYFY
SFVAMCRNVCRLPTWKDGGPPDTTIYVEPITEERAARTLYRIELLRKVREQVLKCPQLHE
RLQLCRPSLYLPVWWECGKHDRDLLIGTAKHGLNRTDCYIMNDPQLSFLDAYRNYAQHKR
SGTQAPGNLCCLYQTNSKLYESLTYSQMSRTSESLENEPENLVRVESRDDHLSLPDVTCE
NFISKVQDVISINHDESLLPESLESMMYGKKVLSQEPSSFQESPSTNTESRKDVITISIS
KDGNCQSGGPEAEIASGPTFMGSLEAGGVAQANIKNGKHLLMSISKEGELCCSEAGQRPE
NIGQLEAKCLASPSLNPGNESGFVDMCSLSVCDSKRNLSSDQQLIDLLENKSLESKLILS
QNHSDEEEEEEENEEENLAMAVGMGERPEVLHLTEPTTNISREKNQGFQDETKKGSLEVA
NQTPGLQRAFPAPAACQCHCKHMERWMHGLENDEFEIEKPKAYIPDLFKSKTNTIAMEGE
PTAIPSQPFKVKHELLKEPWKESAEGQNVFPTYPLEGSELKSEDMDFENKDDYDRDGNCH
SQDYPGKYSEEESKSSTSGITGDIGDELQEARAPTIAQLLQEKTLYSFSEWPKDRVIINR
LDNICHVVLKGKWPSSQQYEPSGTLPTPVLTSSAGSRTSLSEPEAAEHSFSNGAALAAQI
HKESFLAPVFTKDEQKHRRPYEFEVERDAKARGLEQFSATHGHTPIILNGWHGESAMDLS
CSSEGSPGATSPFPVSASTPKIGAISSLQGALGMDLSGILQAGLIHPVTGQIVNGSLRRD
DAATRRRRGRRKHVEGGMDLIFLKEQTLQAGILEVHEDPGQATLSTTHPEGPGPATSAPE
PATAASSQAEKSIPSKSLLDWLRQQADYSLEVPGFGANFSDKPKQRRPRCKEPGKLDVSS
LSGEERVPAIPKEPGLRGFLPENKFNHTLAEPILRDTGPRRRGRRPRSELLKAPSIVADS
PSGMGPLFMNGLIAGMDLVGLQNMRNMPGIPLTGLVGFPAGFATMPTGEEVKSTLSMLPM
MLPGMAAVPQMFGVGGLLSPPMATTCTSTAPASLSSTTKSGTAVTEKTAEDKPSSHDVKT
DTLAEDKPGPGPFSDQSEPAITTSSPVAFNPFLIPGVSPGLIYPSMFLSPGMGMALPAMQ
QARHSEIVGLESQKRKKKKTKGDNPNSHPEPAPSCEREPSGDENCAEPSAPLPAEREHGA
QAGEGALKDSNNDTN

Sequence length

2715

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 Unknown Diseases (15)

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.
Adult spinal cord ependymoma	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, TRANSITIONAL CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HALLERMANN-STREIFF SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HALLERMANNS SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (91)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	24276239		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	24243398		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	GWASCAT_DG	30306274		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	28608855, 31146125		★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	33621950	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CTD_human_DG	21822268		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	26625313		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18698156, 22569290		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18698156, 22569290	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24243398	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	19750230		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26517514, 29907144, 30043858	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35808817	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	26625313		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22186629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26943038	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	21822268	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	18953434, 21860208		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	30655677		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19750230, 22235338, 24243398, 26753653		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	21278247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19750230, 24694993	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	21278247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24243398	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	19207181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	26943038		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	33944996	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	21250965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	25631877	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33944996, 35468861	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	19207181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	22910690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	33944996	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	21860208		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	22855185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30015879		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35955624	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30015879		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	18698156, 24419087		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	18698156, 35955624	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hallermann's Syndrome	Hallermanns syndrome	Pubtator	34021162	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Melanoma	Hereditary cutaneous melanoma	BEFREE	21250965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	33944996	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	31146125		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	33944996	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	33944996	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	33944996	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	21636313		★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	33944996	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	24454811		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	24454811	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24529164, 25420499, 26287602, 26517514, 29907144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	22569290	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	30043858	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18953434, 22569290		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22186629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	18953434, 21860208		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	24276239		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24419087		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	19840376		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CTD_human_DG	21822268		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	26625313		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17289567, 18413720, 18698156, 22186629, 22960751, 23318260, 24419087, 26753653, 28400267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	30655677		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	21250965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15949564, 17289567, 18577749, 18953434, 19840376, 20950435, 21250965, 21636313, 21860208, 22186629, 22235338, 22294723, 22569290, 22910690, 22960751 View all (16 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	12592387, 17667943, 18577749, 18672103, 20950435, 22294723, 22960751, 23318260, 23948251, 24419087, 25247294, 26121086, 26245651, 26895110		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	CTD_human_DG	18577749, 26121086		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	Pubtator	20950435, 25825869	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	Pubtator	22294723, 22328561, 25247294, 26245651, 26895110, 33915956, 35768791, 35955624	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29861839		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28400267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	31792669	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	18953434, 21860208		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	18953434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	18953434	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	24276239		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	25631877	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21147910	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rectal Carcinoma	Rectal Carcinoma	BEFREE	26753653		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	26943038		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	33944996	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	33944996	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	27513190		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	19840376		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	19840376	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30043858	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	21822268		★★★★★ ★☆☆☆☆ Found in Text Mining only

CHD6 (chromodomain helicase DNA binding protein 6)