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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1107
Gene name	Chromodomain helicase DNA binding protein 3
Gene symbol	CHD3
Synonyms (NCBI Gene)	Mi-2aMi2-ALPHASNIBCPSZFH
Chromosome	17
Chromosome location	17p13.1
Summary	This gene encodes a member of the CHD family of proteins which are characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. This protein is one of the components of a histone deacetylase c

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SNP ID	Visualize variation	Clinical significance	Consequence
rs754919272	C>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, synonymous variant, missense variant, genic downstream transcript variant, downstream transcript variant
rs1064795892	C>T	Likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs1555611722	C>T	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1555612691	GATGATGCTGAC>-	Likely-pathogenic	Downstream transcript variant, genic downstream transcript variant, inframe deletion, coding sequence variant
rs1567844992	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1567855081	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1567855669	G>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1567855704	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1567856045	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1567856331	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1567859975	GGT>-	Uncertain-significance, likely-pathogenic	Inframe deletion, coding sequence variant
rs1567860075	CG>TC	Likely-pathogenic	Missense variant, coding sequence variant
rs1567860112	G>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1567860640	C>T	Likely-pathogenic	Missense variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs1567860891	T>C	Likely-pathogenic, pathogenic	Missense variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs1567860919	A>G	Likely-pathogenic	Missense variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs1567861468	C>T	Likely-pathogenic, pathogenic	Missense variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs1567861489	A>G	Likely-pathogenic	Missense variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs1567861501	G>A	Likely-pathogenic, pathogenic	Missense variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs1567861571	G>C	Uncertain-significance, likely-pathogenic	Missense variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs1567861894	T>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1567877108	G>T	Likely-pathogenic	Missense variant, synonymous variant, coding sequence variant, genic downstream transcript variant
rs1567878511	->GAAC	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant

169

Show/Hide all (169)

miRTarBase ID	miRNA	Experiments	Reference
MIRT032350	hsa-let-7b-5p	Proteomics	18668040
MIRT032350	hsa-let-7b-5p	CLASH	23622248
MIRT051081	hsa-miR-16-5p	CLASH	23622248
MIRT036514	hsa-miR-1226-3p	CLASH	23622248
MIRT036072	hsa-miR-1296-5p	CLASH	23622248
MIRT889109	hsa-miR-1262	CLIP-seq
MIRT889110	hsa-miR-2467-3p	CLIP-seq
MIRT889111	hsa-miR-28-5p	CLIP-seq
MIRT889112	hsa-miR-2861	CLIP-seq
MIRT889113	hsa-miR-3139	CLIP-seq
MIRT889114	hsa-miR-3150a-3p	CLIP-seq
MIRT889115	hsa-miR-3158-5p	CLIP-seq
MIRT889116	hsa-miR-3175	CLIP-seq
MIRT889117	hsa-miR-3179	CLIP-seq
MIRT889118	hsa-miR-3678-3p	CLIP-seq
MIRT889119	hsa-miR-4436b-3p	CLIP-seq
MIRT889120	hsa-miR-4469	CLIP-seq
MIRT889121	hsa-miR-4635	CLIP-seq
MIRT889122	hsa-miR-4650-5p	CLIP-seq
MIRT889123	hsa-miR-4691-5p	CLIP-seq
MIRT889124	hsa-miR-4701-3p	CLIP-seq
MIRT889125	hsa-miR-4709-3p	CLIP-seq
MIRT889126	hsa-miR-491-5p	CLIP-seq
MIRT889127	hsa-miR-558	CLIP-seq
MIRT889128	hsa-miR-617	CLIP-seq
MIRT889129	hsa-miR-661	CLIP-seq
MIRT889130	hsa-miR-708	CLIP-seq
MIRT889131	hsa-miR-939	CLIP-seq
MIRT889132	hsa-miR-1236	CLIP-seq
MIRT889133	hsa-miR-3183	CLIP-seq
MIRT889134	hsa-miR-330-3p	CLIP-seq
MIRT889135	hsa-miR-4303	CLIP-seq
MIRT889136	hsa-miR-4459	CLIP-seq
MIRT889137	hsa-miR-4649-3p	CLIP-seq
MIRT889138	hsa-miR-4667-3p	CLIP-seq
MIRT889139	hsa-miR-4672	CLIP-seq
MIRT889140	hsa-miR-4676-5p	CLIP-seq
MIRT889141	hsa-miR-4723-3p	CLIP-seq
MIRT889142	hsa-miR-4778-5p	CLIP-seq
MIRT889143	hsa-miR-575	CLIP-seq
MIRT889144	hsa-miR-887	CLIP-seq
MIRT889140	hsa-miR-4676-5p	CLIP-seq
MIRT889143	hsa-miR-575	CLIP-seq
MIRT889144	hsa-miR-887	CLIP-seq
MIRT1963466	hsa-let-7a	CLIP-seq
MIRT1963467	hsa-let-7b	CLIP-seq
MIRT1963468	hsa-let-7c	CLIP-seq
MIRT1963469	hsa-let-7d	CLIP-seq
MIRT1963470	hsa-let-7e	CLIP-seq
MIRT1963471	hsa-let-7f	CLIP-seq
MIRT1963472	hsa-let-7g	CLIP-seq
MIRT1963473	hsa-let-7i	CLIP-seq
MIRT889114	hsa-miR-3150a-3p	CLIP-seq
MIRT889116	hsa-miR-3175	CLIP-seq
MIRT1963474	hsa-miR-4458	CLIP-seq
MIRT889120	hsa-miR-4469	CLIP-seq
MIRT1963475	hsa-miR-4500	CLIP-seq
MIRT889123	hsa-miR-4691-5p	CLIP-seq
MIRT1963476	hsa-miR-4728-5p	CLIP-seq
MIRT889126	hsa-miR-491-5p	CLIP-seq
MIRT1963477	hsa-miR-890	CLIP-seq
MIRT889131	hsa-miR-939	CLIP-seq
MIRT1963478	hsa-miR-98	CLIP-seq
MIRT1963479	hsa-miR-3667-5p	CLIP-seq
MIRT1963480	hsa-miR-3929	CLIP-seq
MIRT1963481	hsa-miR-4281	CLIP-seq
MIRT1963482	hsa-miR-4419a	CLIP-seq
MIRT1963483	hsa-miR-4419b	CLIP-seq
MIRT889120	hsa-miR-4469	CLIP-seq
MIRT1963484	hsa-miR-4478	CLIP-seq
MIRT1963485	hsa-miR-4510	CLIP-seq
MIRT1963486	hsa-miR-4725-5p	CLIP-seq
MIRT1963487	hsa-miR-504	CLIP-seq
MIRT1963477	hsa-miR-890	CLIP-seq
MIRT2199909	hsa-miR-1184	CLIP-seq
MIRT2199910	hsa-miR-1205	CLIP-seq
MIRT2199911	hsa-miR-1245b-5p	CLIP-seq
MIRT2199912	hsa-miR-1321	CLIP-seq
MIRT2199913	hsa-miR-1909	CLIP-seq
MIRT889110	hsa-miR-2467-3p	CLIP-seq
MIRT889111	hsa-miR-28-5p	CLIP-seq
MIRT889113	hsa-miR-3139	CLIP-seq
MIRT2199914	hsa-miR-3142	CLIP-seq
MIRT889115	hsa-miR-3158-5p	CLIP-seq
MIRT2199915	hsa-miR-3160-3p	CLIP-seq
MIRT889116	hsa-miR-3175	CLIP-seq
MIRT2199916	hsa-miR-3184	CLIP-seq
MIRT2199917	hsa-miR-337-5p	CLIP-seq
MIRT889118	hsa-miR-3678-3p	CLIP-seq
MIRT2199918	hsa-miR-3713	CLIP-seq
MIRT2199919	hsa-miR-3936	CLIP-seq
MIRT2199920	hsa-miR-423-5p	CLIP-seq
MIRT1963481	hsa-miR-4281	CLIP-seq
MIRT1963482	hsa-miR-4419a	CLIP-seq
MIRT2199921	hsa-miR-4487	CLIP-seq
MIRT1963485	hsa-miR-4510	CLIP-seq
MIRT2199922	hsa-miR-4645-5p	CLIP-seq
MIRT889122	hsa-miR-4650-5p	CLIP-seq
MIRT2199923	hsa-miR-4651	CLIP-seq
MIRT2199924	hsa-miR-4673	CLIP-seq
MIRT1963476	hsa-miR-4728-5p	CLIP-seq
MIRT2199925	hsa-miR-4739	CLIP-seq
MIRT2199926	hsa-miR-4742-3p	CLIP-seq
MIRT2199927	hsa-miR-4756-5p	CLIP-seq
MIRT889126	hsa-miR-491-5p	CLIP-seq
MIRT2199928	hsa-miR-544	CLIP-seq
MIRT889127	hsa-miR-558	CLIP-seq
MIRT2199929	hsa-miR-608	CLIP-seq
MIRT889130	hsa-miR-708	CLIP-seq
MIRT2502633	hsa-miR-1224-5p	CLIP-seq
MIRT2199911	hsa-miR-1245b-5p	CLIP-seq
MIRT2199912	hsa-miR-1321	CLIP-seq
MIRT2502634	hsa-miR-1343	CLIP-seq
MIRT889110	hsa-miR-2467-3p	CLIP-seq
MIRT889111	hsa-miR-28-5p	CLIP-seq
MIRT2502635	hsa-miR-300	CLIP-seq
MIRT889113	hsa-miR-3139	CLIP-seq
MIRT2199914	hsa-miR-3142	CLIP-seq
MIRT2502636	hsa-miR-3150b-3p	CLIP-seq
MIRT889115	hsa-miR-3158-5p	CLIP-seq
MIRT2502637	hsa-miR-3192	CLIP-seq
MIRT889118	hsa-miR-3678-3p	CLIP-seq
MIRT2502638	hsa-miR-3689a-3p	CLIP-seq
MIRT2502639	hsa-miR-3689c	CLIP-seq
MIRT2199918	hsa-miR-3713	CLIP-seq
MIRT2502640	hsa-miR-381	CLIP-seq
MIRT2502641	hsa-miR-3915	CLIP-seq
MIRT2502642	hsa-miR-411	CLIP-seq
MIRT2502643	hsa-miR-4252	CLIP-seq
MIRT2502644	hsa-miR-4293	CLIP-seq
MIRT1963482	hsa-miR-4419a	CLIP-seq
MIRT2502645	hsa-miR-4446-5p	CLIP-seq
MIRT2502646	hsa-miR-4474-5p	CLIP-seq
MIRT1963485	hsa-miR-4510	CLIP-seq
MIRT2502647	hsa-miR-4525	CLIP-seq
MIRT2502648	hsa-miR-455-5p	CLIP-seq
MIRT889121	hsa-miR-4635	CLIP-seq
MIRT2502649	hsa-miR-4639-3p	CLIP-seq
MIRT2199922	hsa-miR-4645-5p	CLIP-seq
MIRT889122	hsa-miR-4650-5p	CLIP-seq
MIRT2502650	hsa-miR-4666-3p	CLIP-seq
MIRT889138	hsa-miR-4667-3p	CLIP-seq
MIRT2199924	hsa-miR-4673	CLIP-seq
MIRT2502651	hsa-miR-4689	CLIP-seq
MIRT2502652	hsa-miR-4707-5p	CLIP-seq
MIRT889125	hsa-miR-4709-3p	CLIP-seq
MIRT1963476	hsa-miR-4728-5p	CLIP-seq
MIRT2199925	hsa-miR-4739	CLIP-seq
MIRT2199926	hsa-miR-4742-3p	CLIP-seq
MIRT2502653	hsa-miR-4749-3p	CLIP-seq
MIRT2502654	hsa-miR-4755-5p	CLIP-seq
MIRT2199927	hsa-miR-4756-5p	CLIP-seq
MIRT2502655	hsa-miR-4764-5p	CLIP-seq
MIRT2502656	hsa-miR-4779	CLIP-seq
MIRT2502657	hsa-miR-4784	CLIP-seq
MIRT2502658	hsa-miR-4789-5p	CLIP-seq
MIRT889127	hsa-miR-558	CLIP-seq
MIRT2502659	hsa-miR-596	CLIP-seq
MIRT2502660	hsa-miR-665	CLIP-seq
MIRT889130	hsa-miR-708	CLIP-seq
MIRT889110	hsa-miR-2467-3p	CLIP-seq
MIRT889111	hsa-miR-28-5p	CLIP-seq
MIRT889113	hsa-miR-3139	CLIP-seq
MIRT889115	hsa-miR-3158-5p	CLIP-seq
MIRT889118	hsa-miR-3678-3p	CLIP-seq
MIRT889121	hsa-miR-4635	CLIP-seq
MIRT889125	hsa-miR-4709-3p	CLIP-seq
MIRT889127	hsa-miR-558	CLIP-seq
MIRT889130	hsa-miR-708	CLIP-seq

Show/Hide all (57)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	27068747
GO:0000166	Function	Nucleotide binding	IEA
GO:0000785	Component	Chromatin	IBA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	27068747
GO:0003677	Function	DNA binding	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	9326634
GO:0003682	Function	Chromatin binding	IBA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0004386	Function	Helicase activity	NAS	9688266
GO:0005515	Function	Protein binding	IPI	9804427, 12505151, 15383276, 16169070, 19703393, 20676135, 21642969, 21900206, 22720776, 26816381, 27068747, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	22720776, 28977666, 33283408
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	9688266
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IDA	17626165
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	17626165
GO:0005813	Component	Centrosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IBA
GO:0006338	Process	Chromatin remodeling	IDA	9790534
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006338	Process	Chromatin remodeling	IMP	30397230
GO:0006355	Process	Regulation of DNA-templated transcription	NAS	9688266
GO:0007051	Process	Spindle organization	IDA	17626165
GO:0007098	Process	Centrosome cycle	IDA	17626165
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	NAS	9688266
GO:0008270	Function	Zinc ion binding	TAS	7560064
GO:0016581	Component	NuRD complex	IBA
GO:0016581	Component	NuRD complex	IDA	17827154, 33283408
GO:0016581	Component	NuRD complex	IEA
GO:0016581	Component	NuRD complex	IPI	27068747
GO:0016581	Component	NuRD complex	NAS	16428440
GO:0016605	Component	PML body	IDA	27068747
GO:0016605	Component	PML body	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IBA
GO:0016887	Function	ATP hydrolysis activity	IDA	28977666
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0034451	Component	Centriolar satellite	IDA
GO:0042393	Function	Histone binding	IBA
GO:0042659	Process	Regulation of cell fate specification	NAS	22560079
GO:0045892	Process	Negative regulation of DNA-templated transcription	NAS	22560079
GO:0045893	Process	Positive regulation of DNA-templated transcription	NAS	19927129
GO:0046872	Function	Metal ion binding	IEA
GO:0140658	Function	ATP-dependent chromatin remodeler activity	IBA
GO:0140658	Function	ATP-dependent chromatin remodeler activity	IDA	28977666, 30397230
GO:2000736	Process	Regulation of stem cell differentiation	NAS	22560079

MIM	HGNC	e!Ensembl
602120	1918	ENSG00000170004

Q12873

Protein name

Chromodomain-helicase-DNA-binding protein 3 (CHD-3) (EC 3.6.4.-) (ATP-dependent helicase CHD3) (Mi-2 autoantigen 240 kDa protein) (Mi2-alpha) (Zinc finger helicase) (hZFH)

Protein function

ATP-dependent chromatin-remodeling factor that binds and distorts nucleosomal DNA (PubMed:28977666). Acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin (PubMed:16428440, PubMed:28977666,

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08073	CHDNT	148 → 201	CHDNT (NUC034) domain	Domain
PF00628	PHD	381 → 426	PHD-finger	Domain
PF00628	PHD	458 → 503	PHD-finger	Domain
PF00385	Chromo	631 → 683	Chromo (CHRromatin Organisation MOdifier) domain	Domain
PF00176	SNF2_N	739 → 1035	SNF2 family N-terminal domain	Family
PF00271	Helicase_C	1060 → 1174	Helicase conserved C-terminal domain	Family
PF06465	DUF1087	1295 → 1356	Domain of Unknown Function (DUF1087)	Domain
PF06461	DUF1086	1376 → 1517	Domain of Unknown Function (DUF1086)	Domain
PF08074	CHDCT2	1736 → 1862	CHDCT2 (NUC038) domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:28977666, ECO:0000269|PubMed:9688266}.

Sequence

MKAADTVILWARSKNDQLRISFPPGLCWGDRMPDKDDIRLLPSALGVKKRKRGPKKQKEN
KPGKPRKRKKRDSEEEFGSERDEYREKSESGGSEYGTGPGRKRRRKHREKKEKKTKRRKK
GEGDGGQKQVEQKSSATLLLTWGLEDVEHVFSEEDYHTLTNYKAFSQFMRPLIAKKNPKI
PMSKMMTILGAKWREFSANNPFKGSAAAVAAAAAAAAAAVAEQVSAAVSSATPIAPSGPP
ALPPPPAADIQPPPIRRAKTKEGKGPGHKRRSKSPRVPDGRKKLRGKKMAPLKIKLGLLG
GKRKKGGSYVFQSDEGPEPEAEESDLDSGSVHSASGRPDGPVRTKKLKRGRPGRKKKKVL
GCPAVAGEEEVDGYETDHQDYCEVCQQGGEIILCDTCPRAYHLVCLDPELDRAPEGKWSC
PHCEKEGVQWEAKEEEEEYEEEGEEEGEKEEEDDHMEYCRVCKDGGELLCCDACISSYHI
HCLNPPLPDIPNGEWLCPRCTCPVLKGRVQKILHWRWGEPPVAVPAPQQADGNPDVPPPR
PLQGRSEREFFVKWVGLSYWHCSWAKELQLEIFHLVMYRNYQRKNDMDEPPPLDYGSGED
DGKSDKRKVKDPHYAEMEEKYYRFGIKPEWMTVHRIINHSVDKKGNYHYLVKWRDLPYDQ
STWEEDEMNIPEYEEHKQSYWRHRELIMGEDPAQPRKYKKKKKELQGDGPPSSPTNDPTV
KYETQPRFITATGGTLHMYQLEGLNWLRFSWAQGTDTILADEMGLGKTIQTIVFLYSLYK
EGHTKGPFLVSAPLSTIINWEREFQMWAPKFYVVTYTGDKDSRAIIRENEFSFEDNAIKG
GKKAFKMKREAQVKFHVLLTSYELITIDQAALGSIRWACLVVDEAHRLKNNQSKFFRVLN
GYKIDHKLLLTGTPLQNNLEELFHLLNFLTPERFNNLEGFLEEFADISKEDQIKKLHDLL
GPHMLRRLKADVFKNMPAKTELIVRVELSPMQKKYYKYILTRNFEALNSRGGGNQVSLLN
IMMDLKKCCNHPYLFPVAAMESPKLPSGAYEGGALIKSSGKLMLLQKMLRKLKEQGHRVL
IFSQMTKMLDLLEDFLDYEGYKYERIDGGITGALRQEAIDRFNAPGAQQFCFLLSTRAGG
LGINLATADTVIIFDSDWNPHNDIQAFSRAHRIGQANKVMIYRFVTRASVEERITQVAKR
KMMLTHLVVRPGLGSKAGSMSKQELDDILKFGTEELFKDENEGENKEEDSSVIHYDNEAI
ARLLDRNQDATEDTDVQNMNEYLSSFKVAQYVVREEDKIEEIEREIIKQEENVDPDYWEK
LLRHHYEQQQEDLARNLGKGKRVRKQVNYNDAAQEDQDNQSEYSVGSEEEDEDFDERPEG
RRQSKRQLRNEKDKPLPPLLARVGGNIEVLGFNTRQRKAFLNAVMRWGMPPQDAFTTQWL
VRDLRGKTEKEFKAYVSLFMRHLCEPGADGSETFADGVPREGLSRQQVLTRIGVMSLVKK
KVQEFEHINGRWSMPELMPDPSADSKRSSRASSPTKTSPTTPEASATNSPCTSKPATPAP
SEKGEGIRTPLEKEEAENQEEKPEKNSRIGEKMETEADAPSPAPSLGERLEPRKIPLEDE
VPGVPGEMEPEPGYRGDREKSATESTPGERGEEKPLDGQEHRERPEGETGDLGKREDVKG
DRELRPGPRDEPRSNGRREEKTEKPRFMFNIADGGFTELHTLWQNEERAAISSGKLNEIW
HRRHDYWLLAGIVLHGYARWQDIQNDAQFAIINEPFKTEANKGNFLEMKNKFLARRFKLL
EQALVIEEQLRRAAYLNLSQEPAHPAMALHARFAEAECLAESHQHLSKESLAGNKPANAV
LHKVLNQLEELLSDMKADVTRLPATLSRIPPIAARLQMSERSILSRLASKGTEPHPTPAY
PPGPYATPPGYGAAFSAAPVGALAAAGANYSQMPAGSFITAATNGPPVLVKKEKEMVGAL
VSDGLDRKEPRAGEVICIDD

Sequence length

2000

Interactions

View interactions

	KEGG		Reactome
	ATP-dependent chromatin remodeling		HDACs deacetylate histones SUMOylation of chromatin organization proteins Regulation of TP53 Activity through Acetylation RNA Polymerase I Transcription Initiation Regulation of PTEN gene transcription

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 (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cervical cancer	Likely pathogenic; Pathogenic	rs1567863732	RCV005901431	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHD3-related disorder	Likely pathogenic; Pathogenic	rs2545032347, rs2544842904, rs2544958343, rs1064795892	RCV003392992 RCV003416996 RCV003899441 RCV004545775	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic; Pathogenic	rs1567860112	RCV002463725	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs1555611722, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489 View all (6 more)	RCV000714488 RCV000714483 RCV000714484 RCV000714485 RCV000714486 View all (16 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Marfanoid habitus and intellectual disability	Likely pathogenic; Pathogenic	rs754919272	RCV000850454	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic	rs1970772602	RCV005932258	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental abnormality	Likely pathogenic	rs1567855081	RCV001264633	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Snijders Blok-Campeau syndrome	Likely pathogenic; Pathogenic	rs2151569587, rs2151604078, rs1482536453, rs2151573039, rs867862540, rs2151609046, rs2151582175, rs2151608196, rs2151687226, rs2151667298, rs2151622456, rs2151542224, rs2544954683, rs1314577386, rs765578621 View all (43 more)	RCV004554861 RCV002464463 RCV001563621 RCV001580613 RCV001706953 View all (54 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (34)

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
Autism spectrum disorder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital ocular coloboma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, FAMILIAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEZARY SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (59)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	17489097, 34686734	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	30226505		★★★★★ ★☆☆☆☆ Found in Text Mining only
Apraxia of Phonation	Apraxia	BEFREE	31737996		★★★★★ ★☆☆☆☆ Found in Text Mining only
Apraxia of Phonation	Apraxia	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Apraxia of Phonation	Apraxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	29463886, 30397230, 31949314	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	35479077	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	39709005	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	37366052	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	33358638, 34535214, 39709005	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28649742		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	28055972	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30043858	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	39473409	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	GWASCAT_DG	26089329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital torticollis	Congenital Torticollis	BEFREE	23819832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	37086723	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	9688266	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33358638, 39709005, 40527848	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	39709005, 40527848	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	27572852	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	29463886		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperopia	Hyperopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Inflammatory Myopathies	Inflammatory Myopathy	BEFREE	30938432		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	29463886		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	BEFREE	30397230		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	30397230, 31949314, 33358638, 39709005	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ischemic stroke	Ischemic Stroke	GWASCAT_DG	26089329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	30043858	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	GENOMICS_ENGLAND_DG	29463886		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	BEFREE	30397230, 30770872, 31048695, 31737996		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28649742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	12673795		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28649742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36941558	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	39709005	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate cancer, familial	Prostate cancer	CTD_human_DG	29892016		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, HEREDITARY, 1	Prostate Cancer, Hereditary	CTD_human_DG	29892016		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	GWASCAT_DG	29892016		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	40527848	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	CTD_human_DG	26551667		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Situs Inversus	Situs inversus	Pubtator	39709005	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
SNIJDERS BLOK-CAMPEAU SYNDROME	SNIJDERS BLOK-CAMPEAU SYNDROME	CLINVAR_DG	29463886, 30397230		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SNIJDERS BLOK-CAMPEAU SYNDROME	SNIJDERS BLOK-CAMPEAU SYNDROME	UNIPROT_DG	29463886, 30397230		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SNIJDERS BLOK-CAMPEAU SYNDROME	SNIJDERS BLOK-CAMPEAU SYNDROME	GENOMICS_ENGLAND_DG	29463886		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spasms Infantile	Infantile spasms	Pubtator	40527848	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	BEFREE	30397230		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30043858	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	31949314	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CHD3 (chromodomain helicase DNA binding protein 3)