DDX11 (DEAD/H-box helicase 11)

Gene

• Entrez ID: 1663
• Gene name: DEAD/H-box helicase 11
• Gene symbol: DDX11
• Synonyms (NCBI Gene): CHL1, CHLR1, KRG2, WABS
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	17105772
GO:0000922	Component	Spindle pole	IDA	17105772
GO:0001650	Component	Fibrillar center	IDA
GO:0003677	Function	DNA binding	IDA	26503245
GO:0003678	Function	DNA helicase activity	IBA	21873635
GO:0003678	Function	DNA helicase activity	IDA	18499658, 26503245
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:0003727	Function	Single-stranded RNA binding	IDA	27477908
GO:0004386	Function	Helicase activity	IDA	10648783, 18499658
GO:0005515	Function	Protein binding	IPI	17105772, 17189189, 18499658, 20124417, 26089203
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	17189189
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA	9013641, 26089203
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	17105772
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	Cellular response to DNA damage stimulus	IMP	23797032
GO:0007062	Process	Sister chromatid cohesion	IDA	17105772
GO:0007275	Process	Multicellular organism development	IEA
GO:0008094	Function	DNA-dependent ATPase activity	IDA	10648783, 18499658, 26503245
GO:0008094	Function	DNA-dependent ATPase activity	IMP	26089203
GO:0008186	Function	RNA-dependent ATPase activity	IDA	27477908
GO:0016032	Process	Viral process	IEA
GO:0030496	Component	Midbody	IDA	17105772
GO:0030892	Component	Mitotic cohesin complex	IDA	17105772
GO:0031297	Process	Replication fork processing	IMP	26503245
GO:0031390	Component	Ctf18 RFC-like complex	IDA	18499658
GO:0032079	Process	Positive regulation of endodeoxyribonuclease activity	IDA	18499658
GO:0032091	Process	Negative regulation of protein binding	IMP	26089203
GO:0032508	Process	DNA duplex unwinding	IBA	21873635
GO:0032508	Process	DNA duplex unwinding	IDA	10648783, 18499658, 26503245
GO:0034085	Process	Establishment of sister chromatid cohesion	IBA	21873635
GO:0035563	Process	Positive regulation of chromatin binding	IDA	26089203
GO:0036498	Process	IRE1-mediated unfolded protein response	TAS
GO:0044806	Process	G-quadruplex DNA unwinding	IDA	26503245
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: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: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

Other IDs

• MIM: 601150
• HGNC: 2736
• e!Ensembl: ENSG00000013573

Protein

• UniProt ID: 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

Pathways

KEGG:

Cell cycle

Reactome:

XBP1(S) activates chaperone genes

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775
Warsaw breakage syndrome	WARSAW BREAKAGE SYNDROME, Warsaw breakage syndrome	rs730880279, rs730880280, rs201968272, rs148856317, rs779058797, rs368266910, rs780059558, rs745501673, rs776627170	20137776, 25701697, 23033317, 26089203, 30216658

Unknown
Disease term	Disease name	Evidence	References	Source
Diabetes	Diabetes			GWAS
Androgenetic Alopecia	Androgenetic Alopecia			GWAS
Dementia	Dementia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	35237359
Breast Neoplasms	Associate	35169864
Carcinogenesis	Associate	28496001, 32054332
Carcinoma Hepatocellular	Associate	28496001, 29599483, 33592832, 34603293, 39849389
Chromosomal Instability	Associate	26503245
Chromosome Breakage	Associate	20137776, 23797032
Cochlear Diseases	Associate	30216658
Cockayne Syndrome	Associate	23935105
Congenital Abnormalities	Associate	23033317
De Lange Syndrome	Associate	20137776
Dyskeratosis Congenita	Associate	23935105
Esophageal Neoplasms	Stimulate	34281459
Esophageal Squamous Cell Carcinoma	Associate	34866524
Fanconi Anemia	Associate	20137776, 22102414
Genetic Diseases Inborn	Associate	22102414, 26474416
Glioma	Associate	30984540
Growth Disorders	Associate	23033317
Immunologic Deficiency Syndromes	Inhibit	22102414
Immunologic Deficiency Syndromes	Associate	22102414
Intellectual Disability	Associate	23033317
Leukemia Myeloid Acute	Associate	37041565
Lupus Erythematosus Systemic	Associate	34299244
Lymphatic Metastasis	Stimulate	32054332
Lymphedema Congenital Recessive	Associate	23033317
Melanoma	Associate	23116066
Microcephaly	Associate	23033317, 30216658
Microphthalmia Syndromic 6	Associate	23797032
Myelodysplastic Syndromes	Associate	37041565
Neoplasm Invasiveness	Stimulate	23116066
Neoplasms	Associate	34866524, 36474250, 37041565, 38478595
Roberts Syndrome	Associate	20137776
Skin Abnormalities	Associate	23033317
Stomach Neoplasms	Associate	32054332, 32271422
Xeroderma Pigmentosum	Associate	23935105