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	1663
Gene name	DEAD/H-box helicase 11
Gene symbol	DDX11
Synonyms (NCBI Gene)	CHL1CHLR1KRG2WABS
Chromosome	12
Chromosome location	12p11.21
Summary	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and m

Show/Hide all (11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs148856317	G>C	Pathogenic, likely-pathogenic	Splice acceptor variant
rs201968272	G>A	Pathogenic	Non coding transcript variant, missense variant, 5 prime UTR variant, coding sequence variant
rs368266910	G>A,C,T	Uncertain-significance, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs730880279	T>C	Pathogenic	Splice donor variant, intron variant, genic downstream transcript variant
rs730880280	AAG>-	Pathogenic	Coding sequence variant, 3 prime UTR variant, non coding transcript variant, genic downstream transcript variant, inframe deletion
rs745501673	G>A,T	Pathogenic	Splice donor variant, downstream transcript variant, intron variant, genic downstream transcript variant
rs776627170	C>T	Likely-pathogenic	Non coding transcript variant, stop gained, 3 prime UTR variant, genic downstream transcript variant, coding sequence variant
rs779058797	G>A	Likely-pathogenic	Downstream transcript variant, splice acceptor variant, non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs781413815	C>G,T	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, upstream transcript variant, missense variant, stop gained, coding sequence variant
rs1359896342	C>A,T	Likely-pathogenic	5 prime UTR variant, upstream transcript variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained, intron variant, missense variant
rs1565941025	T>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, 3 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant

133

Show/Hide all (133)

miRTarBase ID	miRNA	Experiments	Reference
MIRT043115	hsa-miR-324-5p	CLASH	23622248
MIRT040191	hsa-miR-615-3p	CLASH	23622248
MIRT037623	hsa-miR-744-5p	CLASH	23622248
MIRT461763	hsa-miR-3173-3p	PAR-CLIP	23592263
MIRT461761	hsa-miR-6891-5p	PAR-CLIP	23592263
MIRT461762	hsa-miR-510-5p	PAR-CLIP	23592263
MIRT461760	hsa-miR-4476	PAR-CLIP	23592263
MIRT461759	hsa-miR-6876-5p	PAR-CLIP	23592263
MIRT461758	hsa-miR-4779	PAR-CLIP	23592263
MIRT461757	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT461756	hsa-miR-873-5p	PAR-CLIP	23592263
MIRT461755	hsa-miR-3664-3p	PAR-CLIP	23592263
MIRT461754	hsa-miR-4533	PAR-CLIP	23592263
MIRT461753	hsa-miR-765	PAR-CLIP	23592263
MIRT461752	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT461751	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT461750	hsa-miR-4271	PAR-CLIP	23592263
MIRT461749	hsa-miR-4725-3p	PAR-CLIP	23592263
MIRT461748	hsa-miR-6780b-5p	PAR-CLIP	23592263
MIRT461747	hsa-miR-4504	PAR-CLIP	23592263
MIRT461763	hsa-miR-3173-3p	PAR-CLIP	23592263
MIRT461761	hsa-miR-6891-5p	PAR-CLIP	23592263
MIRT461762	hsa-miR-510-5p	PAR-CLIP	23592263
MIRT461760	hsa-miR-4476	PAR-CLIP	23592263
MIRT461759	hsa-miR-6876-5p	PAR-CLIP	23592263
MIRT461758	hsa-miR-4779	PAR-CLIP	23592263
MIRT461757	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT461756	hsa-miR-873-5p	PAR-CLIP	23592263
MIRT461755	hsa-miR-3664-3p	PAR-CLIP	23592263
MIRT461754	hsa-miR-4533	PAR-CLIP	23592263
MIRT461753	hsa-miR-765	PAR-CLIP	23592263
MIRT461752	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT461751	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT461750	hsa-miR-4271	PAR-CLIP	23592263
MIRT461749	hsa-miR-4725-3p	PAR-CLIP	23592263
MIRT461748	hsa-miR-6780b-5p	PAR-CLIP	23592263
MIRT461747	hsa-miR-4504	PAR-CLIP	23592263
MIRT929646	hsa-miR-125a-5p	CLIP-seq
MIRT929647	hsa-miR-125b	CLIP-seq
MIRT929648	hsa-miR-140-3p	CLIP-seq
MIRT929649	hsa-miR-1827	CLIP-seq
MIRT929650	hsa-miR-2355-3p	CLIP-seq
MIRT929651	hsa-miR-2392	CLIP-seq
MIRT929652	hsa-miR-2467-3p	CLIP-seq
MIRT929653	hsa-miR-2861	CLIP-seq
MIRT929654	hsa-miR-298	CLIP-seq
MIRT929655	hsa-miR-3157-5p	CLIP-seq
MIRT929656	hsa-miR-326	CLIP-seq
MIRT929657	hsa-miR-330-5p	CLIP-seq
MIRT929658	hsa-miR-3653	CLIP-seq
MIRT929659	hsa-miR-3688-3p	CLIP-seq
MIRT929660	hsa-miR-3978	CLIP-seq
MIRT929661	hsa-miR-4319	CLIP-seq
MIRT929662	hsa-miR-4436b-3p	CLIP-seq
MIRT929663	hsa-miR-4459	CLIP-seq
MIRT929664	hsa-miR-4646-3p	CLIP-seq
MIRT929665	hsa-miR-4667-5p	CLIP-seq
MIRT929666	hsa-miR-4691-3p	CLIP-seq
MIRT929667	hsa-miR-4700-5p	CLIP-seq
MIRT929668	hsa-miR-4722-5p	CLIP-seq
MIRT929669	hsa-miR-4732-3p	CLIP-seq
MIRT929670	hsa-miR-4768-5p	CLIP-seq
MIRT929671	hsa-miR-541	CLIP-seq
MIRT929672	hsa-miR-615-5p	CLIP-seq
MIRT929673	hsa-miR-637	CLIP-seq
MIRT929674	hsa-miR-665	CLIP-seq
MIRT929675	hsa-miR-670	CLIP-seq
MIRT929676	hsa-miR-760	CLIP-seq
MIRT1975254	hsa-miR-1909	CLIP-seq
MIRT1975255	hsa-miR-214	CLIP-seq
MIRT1975256	hsa-miR-3619-5p	CLIP-seq
MIRT1975257	hsa-miR-4291	CLIP-seq
MIRT1975258	hsa-miR-4688	CLIP-seq
MIRT1975259	hsa-miR-486-3p	CLIP-seq
MIRT1975260	hsa-miR-761	CLIP-seq
MIRT1975261	hsa-miR-922	CLIP-seq
MIRT2514558	hsa-miR-1207-5p	CLIP-seq
MIRT2514559	hsa-miR-1252	CLIP-seq
MIRT2514560	hsa-miR-1302	CLIP-seq
MIRT2514561	hsa-miR-138	CLIP-seq
MIRT2514562	hsa-miR-149	CLIP-seq
MIRT2514563	hsa-miR-1539	CLIP-seq
MIRT2514564	hsa-miR-1976	CLIP-seq
MIRT2514565	hsa-miR-22	CLIP-seq
MIRT2514566	hsa-miR-302f	CLIP-seq
MIRT2514567	hsa-miR-3064-3p	CLIP-seq
MIRT929655	hsa-miR-3157-5p	CLIP-seq
MIRT2514568	hsa-miR-3193	CLIP-seq
MIRT2514569	hsa-miR-337-5p	CLIP-seq
MIRT2514570	hsa-miR-4298	CLIP-seq
MIRT2514571	hsa-miR-4446-3p	CLIP-seq
MIRT2514572	hsa-miR-4462	CLIP-seq
MIRT2514573	hsa-miR-4485	CLIP-seq
MIRT2514574	hsa-miR-4514	CLIP-seq
MIRT2514575	hsa-miR-4642	CLIP-seq
MIRT2514576	hsa-miR-4645-5p	CLIP-seq
MIRT2514577	hsa-miR-4648	CLIP-seq
MIRT2514578	hsa-miR-4654	CLIP-seq
MIRT2514579	hsa-miR-4673	CLIP-seq
MIRT2514580	hsa-miR-4675	CLIP-seq
MIRT929666	hsa-miR-4691-3p	CLIP-seq
MIRT2514581	hsa-miR-4692	CLIP-seq
MIRT2514582	hsa-miR-4694-5p	CLIP-seq
MIRT2514583	hsa-miR-4741	CLIP-seq
MIRT2514584	hsa-miR-4763-3p	CLIP-seq
MIRT2514585	hsa-miR-4769-5p	CLIP-seq
MIRT2514586	hsa-miR-4786-5p	CLIP-seq
MIRT2514587	hsa-miR-602	CLIP-seq
MIRT2514588	hsa-miR-658	CLIP-seq
MIRT2514589	hsa-miR-671-5p	CLIP-seq
MIRT929676	hsa-miR-760	CLIP-seq
MIRT2514590	hsa-miR-940	CLIP-seq
MIRT2514558	hsa-miR-1207-5p	CLIP-seq
MIRT2514559	hsa-miR-1252	CLIP-seq
MIRT2514560	hsa-miR-1302	CLIP-seq
MIRT2514562	hsa-miR-149	CLIP-seq
MIRT929655	hsa-miR-3157-5p	CLIP-seq
MIRT2514570	hsa-miR-4298	CLIP-seq
MIRT2514571	hsa-miR-4446-3p	CLIP-seq
MIRT2514574	hsa-miR-4514	CLIP-seq
MIRT2514576	hsa-miR-4645-5p	CLIP-seq
MIRT2514577	hsa-miR-4648	CLIP-seq
MIRT2514578	hsa-miR-4654	CLIP-seq
MIRT2514579	hsa-miR-4673	CLIP-seq
MIRT2514580	hsa-miR-4675	CLIP-seq
MIRT929666	hsa-miR-4691-3p	CLIP-seq
MIRT2514581	hsa-miR-4692	CLIP-seq
MIRT2514583	hsa-miR-4741	CLIP-seq
MIRT2514584	hsa-miR-4763-3p	CLIP-seq
MIRT2514585	hsa-miR-4769-5p	CLIP-seq
MIRT2514589	hsa-miR-671-5p	CLIP-seq
MIRT929676	hsa-miR-760	CLIP-seq
MIRT2514590	hsa-miR-940	CLIP-seq

Show/Hide all (68)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000785	Component	Chromatin	IDA	17105772
GO:0000922	Component	Spindle pole	IDA	17105772
GO:0000922	Component	Spindle pole	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IDA	26503245
GO:0003677	Function	DNA binding	IEA
GO:0003678	Function	DNA helicase activity	IBA
GO:0003678	Function	DNA helicase activity	IDA	26503245
GO:0003678	Function	DNA helicase activity	IEA
GO:0003682	Function	Chromatin binding	IDA	26503245
GO:0003682	Function	Chromatin binding	IMP	20124417, 26089203, 27477908
GO:0003688	Function	DNA replication origin binding	IMP	27477908
GO:0003690	Function	Double-stranded DNA binding	IDA	9013641
GO:0003697	Function	Single-stranded DNA binding	IDA	9013641
GO:0003723	Function	RNA binding	IEA
GO:0003727	Function	Single-stranded RNA binding	IDA	27477908
GO:0004386	Function	Helicase activity	IDA	10648783, 18499658
GO:0004386	Function	Helicase activity	IEA
GO:0004386	Function	Helicase activity	TAS	8798685
GO:0005515	Function	Protein binding	IPI	17105772, 17189189, 18499658, 20124417, 26089203, 33961781, 34819669
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	17189189
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005730	Component	Nucleolus	IDA	9013641, 26089203
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	17105772
GO:0005813	Component	Centrosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006139	Process	Nucleobase-containing compound metabolic process	IEA
GO:0006260	Process	DNA replication	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IMP	23797032
GO:0007062	Process	Sister chromatid cohesion	IDA	17105772
GO:0008094	Function	ATP-dependent activity, acting on DNA	IDA	10648783, 26503245
GO:0008094	Function	ATP-dependent activity, acting on DNA	IMP	26089203
GO:0008186	Function	ATP-dependent activity, acting on RNA	IDA	27477908
GO:0016787	Function	Hydrolase activity	IEA
GO:0016818	Function	Hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030496	Component	Midbody	IDA	17105772
GO:0030496	Component	Midbody	IEA
GO:0030892	Component	Mitotic cohesin complex	IDA	17105772
GO:0031297	Process	Replication fork processing	IMP	26503245
GO:0032091	Process	Negative regulation of protein binding	IMP	26089203
GO:0034085	Process	Establishment of sister chromatid cohesion	IBA
GO:0035563	Process	Positive regulation of chromatin binding	IDA	26089203
GO:0043139	Function	5'-3' DNA helicase activity	IDA	18499658
GO:0045142	Function	Triplex DNA binding	IDA	26503245
GO:0045876	Process	Positive regulation of sister chromatid cohesion	IMP	18499658, 20124417, 27477908
GO:0046872	Function	Metal ion binding	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA
GO:0051880	Function	G-quadruplex DNA binding	IDA	26503245
GO:0070062	Component	Extracellular exosome	HDA	18570454
GO:0072711	Process	Cellular response to hydroxyurea	IMP	23797032, 26503245
GO:0072719	Process	Cellular response to cisplatin	IMP	23797032
GO:0140640	Function	Catalytic activity, acting on a nucleic acid	IDA	26503245
GO:1901838	Process	Positive regulation of transcription of nucleolar large rRNA by RNA polymerase I	IMP	26089203
GO:1904976	Process	Cellular response to bleomycin	IMP	23797032
GO:1990700	Process	Nucleolar chromatin organization	IMP	26089203
GO:2000781	Process	Positive regulation of double-strand break repair	IMP	23797032

MIM	HGNC	e!Ensembl
601150	2736	ENSG00000013573

Q96FC9

Protein name

ATP-dependent DNA helicase DDX11 (EC 5.6.2.3) (CHL1-related protein 1) (hCHLR1) (DEAD/H-box protein 11) (DNA 5'-3' helicase DDX11) (Keratinocyte growth factor-regulated gene 2 protein) (KRG-2)

Protein function

DNA-dependent ATPase and ATP-dependent DNA helicase that participates in various functions in genomic stability, including DNA replication, DNA repair and heterochromatin organization as well as in ribosomal RNA synthesis (PubMed:10648783, PubMe

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06733	DEAD_2	231 → 415	DEAD_2	Family
PF13307	Helicase_C_2	692 → 850	Helicase C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in melanoma cells. Not detected in epidermal melanocytes of normal skin (at protein level) (PubMed:23116066). Highly expressed in spleen, B-cells, thymus, testis, ovary, small intestine and pancreas (PubMed:9013641). Very low

Sequence

MANETQKVGAIHFPFPFTPYSIQEDFMAELYRVLEAGKIGIFESPTGTGKSLSLICGALS
WLRDFEQKKREEEARLLETGTGPLHDEKDESLCLSSSCEGAAGTPRPAGEPAWVTQFVQK
KEERDLVDRLKAEQARRKQREERLQQLQHRVQLKYAAKRLRQEEEERENLLRLSREMLET
GPEAERLEQLESGEEELVLAEYESDEEKKVASRVDEDEDDLEEEHITKIYYCSRTHSQLA
QFVHEVKKSPFGKDVRLVSLGSRQNLCVNEDVKSLGSVQLINDRCVDMQRSRHEKKKGAE
EEKPKRRRQEKQAACPFYNHEQMGLLRDEALAEVKDMEQLLALGKEARACPYYGSRLAIP
AAQLVVLPYQMLLHAATRQAAGIRLQDQVVIIDEAHNLIDTITGMHSVEVSGSQLCQAHS
QLLQYVERYGKRLKAKNLMYLKQILYLLEKFVAVLGGNIKQNPNTQSLSQTGTELKTIND
FLFQSQIDNINLFKVQRYCEKSMISRKLFGFTERYGAVFSSREQPKLAGFQQFLQSLQPR
TTEALAAPADESQASTLRPASPLMHIQGFLAALTTANQDGRVILSRQGSLSQSTLKFLLL
NPAVHFAQVVKECRAVVIAGGTMQPVSDFRQQLLACAGVEAERVVEFSCGHVIPPDNILP
LVICSGISNQPLEFTFQKRELPQMMDEVGRILCNLCGVVPGGVVCFFPSYEYLRQVHAHW
EKGGLLGRLAARKKIFQEPKSAHQVEQVLLAYSRCIQACGQERGQVTGALLLSVVGGKMS
EGINFSDNLGRCVVMVGMPFPNIRSAELQEKMAYLDQTLSPRPGTPREGSGGEPVHEGRQ
PVHRQGHQAPEGFCQRSAPGPAICPAPCPGQAAGLDPSPCGGQSYLWPRHCCCAEVSPGE
VGLFLMGNHTTAWRRALPLSCPLETVFVVGVVCGDPVTKVKPRRRVWSPECCQDPGTGVS
SRRRKWGNPE

Sequence length

970

Interactions

View interactions

	KEGG		Reactome
	Cell cycle		XBP1(S) activates chaperone genes

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 (7)

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	rs201968272	RCV005888878	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clear cell carcinoma of kidney	Pathogenic	rs148856317	RCV005891059	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DDX11-related condition	Pathogenic	rs148856317	RCV004758676	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glioma susceptibility 1	Likely pathogenic; Pathogenic	rs201968272	RCV005888877	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma	Pathogenic; Likely pathogenic	rs148856317, rs201968272	RCV005891060 RCV005888879	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine carcinosarcoma	Pathogenic	rs148856317	RCV005891061	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Warsaw breakage syndrome	Likely pathogenic; Pathogenic	rs1946792293, rs1944933634, rs1946656233, rs774867268, rs766120336, rs730880279, rs730880280, rs148856317, rs752448493, rs779058797, rs368266910, rs201968272, rs780059558, rs745501673, rs776627170 View all (3 more)	RCV001330070 RCV001333269 RCV001334282 RCV005005962 RCV002272904 View all (13 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (9)

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; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ 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
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (60)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	30216658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35169864	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	28496001, 32054332	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28496001, 29599483, 33592832, 34603293, 39849389	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	26503245	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cochlear Diseases	Cochlear diseases	Pubtator	30216658	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne syndrome	Pubtator	23935105	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coloboma of optic disc	Coloboma of optic disc	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31298324		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	23033317	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cornelia De Lange Syndrome	Cornelia De Lange Syndrome	BEFREE	20137776		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
De Lange Syndrome	De lange syndrome	Pubtator	20137776	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis Congenita	BEFREE	23935105		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis congenita	Pubtator	23935105	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	34281459	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	34866524	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	20137776, 30061412		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	20137776, 22102414	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	20137776, 30061412		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30984540	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	23033317	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	23033317	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	37041565	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	34299244	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32054332	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24487782		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23116066, 25057921, 29235570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	23116066	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	23116066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	23033317		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	Pubtator	23033317, 30216658	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmia Syndromic 6	Microphthalmia	Pubtator	23797032	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	37041565	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28332309, 28448604		★★★★★ ★☆☆☆☆ Found in Text Mining only
Roberts Syndrome	Roberts syndrome	Pubtator	20137776	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Roberts-SC phocomelia syndrome	Roberts-SC Phocomelia Syndrome	BEFREE	20137776		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	23033317		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Abnormalities	Skin abnormalities	Pubtator	23033317	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32054332, 32271422	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
WARSAW BREAKAGE SYNDROME	Warsaw Breakage Syndrome	GENOMICS_ENGLAND_DG	20137776, 25701697		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
WARSAW BREAKAGE SYNDROME	Warsaw Breakage Syndrome	ORPHANET_DG	20137776, 23033317		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
WARSAW BREAKAGE SYNDROME	Warsaw Breakage Syndrome	UNIPROT_DG	20137776, 23033317, 26089203		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
WARSAW BREAKAGE SYNDROME	Warsaw Breakage Syndrome	BEFREE	22102414, 23033317, 23161009, 23276657, 24487782, 25561740, 25701697, 28960803, 30061412, 30216658, 30303954, 30469382, 30924321		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Warsaw breakage syndrome	Warsaw Breakage Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
WARSAW BREAKAGE SYNDROME	Warsaw Breakage Syndrome	CLINVAR_DG	30216658		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
WARSAW BREAKAGE SYNDROME	Warsaw Breakage Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Williams Syndrome	Williams Syndrome	BEFREE	30216658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	23935105		★★★★★ ★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma pigmentosum	Pubtator	23935105	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

DDX11 (DEAD/H-box helicase 11)