L3MBTL3 (L3MBTL histone methyl-lysine binding protein 3)

Gene

• Entrez ID: 84456
• Gene name: L3MBTL histone methyl-lysine binding protein 3
• Gene symbol: L3MBTL3
• Synonyms (NCBI Gene): MBT-1, MBT1
• Chromosome: 6
• Chromosome location: 6q23.1
• Summary: This gene encodes a member of the malignant brain tumor (MBT) family of chromatin interacting transcriptional repressors. Members of this family function as methyl-lysine readers, which recognize methylated lysine residues on histone protein tails, and ar

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1102952	hsa-miR-183	CLIP-seq
MIRT1102953	hsa-miR-203	CLIP-seq
MIRT1102954	hsa-miR-3163	CLIP-seq
MIRT1102955	hsa-miR-410	CLIP-seq
MIRT1102956	hsa-miR-4684-3p	CLIP-seq
MIRT1102957	hsa-miR-4698	CLIP-seq
MIRT1102958	hsa-miR-218	CLIP-seq
MIRT1102959	hsa-miR-3065-5p	CLIP-seq
MIRT1102960	hsa-miR-3122	CLIP-seq
MIRT1102961	hsa-miR-3153	CLIP-seq
MIRT1102962	hsa-miR-3913-5p	CLIP-seq
MIRT1102963	hsa-miR-421	CLIP-seq
MIRT1102964	hsa-miR-4272	CLIP-seq
MIRT1102965	hsa-miR-4275	CLIP-seq
MIRT1102966	hsa-miR-451	CLIP-seq
MIRT1102967	hsa-miR-4668-5p	CLIP-seq
MIRT1102957	hsa-miR-4698	CLIP-seq
MIRT1102968	hsa-miR-520d-5p	CLIP-seq
MIRT1102969	hsa-miR-524-5p	CLIP-seq
MIRT1102970	hsa-miR-636	CLIP-seq
MIRT2028172	hsa-miR-3126-3p	CLIP-seq
MIRT2028173	hsa-miR-3660	CLIP-seq
MIRT2028174	hsa-miR-4526	CLIP-seq
MIRT2259333	hsa-miR-1298	CLIP-seq
MIRT2259334	hsa-miR-1302	CLIP-seq
MIRT2259335	hsa-miR-3158-5p	CLIP-seq
MIRT2028173	hsa-miR-3660	CLIP-seq
MIRT2259336	hsa-miR-4298	CLIP-seq
MIRT2259337	hsa-miR-4418	CLIP-seq
MIRT2028174	hsa-miR-4526	CLIP-seq
MIRT2259338	hsa-miR-509-3-5p	CLIP-seq
MIRT2259339	hsa-miR-509-5p	CLIP-seq
MIRT2259340	hsa-miR-556-5p	CLIP-seq
MIRT2559617	hsa-miR-105	CLIP-seq
MIRT2559618	hsa-miR-106a	CLIP-seq
MIRT2559619	hsa-miR-106b	CLIP-seq
MIRT2559620	hsa-miR-10a	CLIP-seq
MIRT2559621	hsa-miR-10b	CLIP-seq
MIRT2559622	hsa-miR-1267	CLIP-seq
MIRT2559623	hsa-miR-1283	CLIP-seq
MIRT2559624	hsa-miR-1288	CLIP-seq
MIRT2559625	hsa-miR-132	CLIP-seq
MIRT2559626	hsa-miR-1324	CLIP-seq
MIRT2559627	hsa-miR-149	CLIP-seq
MIRT2559628	hsa-miR-17	CLIP-seq
MIRT2559629	hsa-miR-182	CLIP-seq
MIRT1102952	hsa-miR-183	CLIP-seq
MIRT2559630	hsa-miR-186	CLIP-seq
MIRT2559631	hsa-miR-1910	CLIP-seq
MIRT2559632	hsa-miR-193a-3p	CLIP-seq
MIRT2559633	hsa-miR-193b	CLIP-seq
MIRT1102953	hsa-miR-203	CLIP-seq
MIRT2559634	hsa-miR-20a	CLIP-seq
MIRT2559635	hsa-miR-20b	CLIP-seq
MIRT2559636	hsa-miR-212	CLIP-seq
MIRT2559637	hsa-miR-219-2-3p	CLIP-seq
MIRT2559638	hsa-miR-221	CLIP-seq
MIRT2559639	hsa-miR-222	CLIP-seq
MIRT2559640	hsa-miR-2277-3p	CLIP-seq
MIRT2559641	hsa-miR-2681	CLIP-seq
MIRT2559642	hsa-miR-2964a-3p	CLIP-seq
MIRT2559643	hsa-miR-299-5p	CLIP-seq
MIRT2559644	hsa-miR-3064-5p	CLIP-seq
MIRT2559645	hsa-miR-30a	CLIP-seq
MIRT2559646	hsa-miR-30b	CLIP-seq
MIRT2559647	hsa-miR-30c	CLIP-seq
MIRT2559648	hsa-miR-30d	CLIP-seq
MIRT2559649	hsa-miR-30e	CLIP-seq
MIRT2559650	hsa-miR-3121-3p	CLIP-seq
MIRT2028172	hsa-miR-3126-3p	CLIP-seq
MIRT2559651	hsa-miR-3133	CLIP-seq
MIRT2559652	hsa-miR-3152-5p	CLIP-seq
MIRT1102954	hsa-miR-3163	CLIP-seq
MIRT2559653	hsa-miR-3169	CLIP-seq
MIRT2559654	hsa-miR-3200-3p	CLIP-seq
MIRT2559655	hsa-miR-3591-5p	CLIP-seq
MIRT2559656	hsa-miR-3607-3p	CLIP-seq
MIRT2559657	hsa-miR-3609	CLIP-seq
MIRT2559658	hsa-miR-3647-3p	CLIP-seq
MIRT2559659	hsa-miR-3667-5p	CLIP-seq
MIRT2559660	hsa-miR-3670	CLIP-seq
MIRT2559661	hsa-miR-3672	CLIP-seq
MIRT2559662	hsa-miR-3686	CLIP-seq
MIRT2559663	hsa-miR-371b-5p	CLIP-seq
MIRT2559664	hsa-miR-374a	CLIP-seq
MIRT2559665	hsa-miR-374b	CLIP-seq
MIRT2559666	hsa-miR-409-3p	CLIP-seq
MIRT1102955	hsa-miR-410	CLIP-seq
MIRT2559667	hsa-miR-425	CLIP-seq
MIRT2559668	hsa-miR-4252	CLIP-seq
MIRT2559669	hsa-miR-4255	CLIP-seq
MIRT2559670	hsa-miR-4423-3p	CLIP-seq
MIRT2559671	hsa-miR-4452	CLIP-seq
MIRT2559672	hsa-miR-4470	CLIP-seq
MIRT2559673	hsa-miR-4474-5p	CLIP-seq
MIRT2559674	hsa-miR-4499	CLIP-seq
MIRT2559675	hsa-miR-4652-3p	CLIP-seq
MIRT2559676	hsa-miR-4655-5p	CLIP-seq
MIRT2559677	hsa-miR-4662a-5p	CLIP-seq
MIRT2559678	hsa-miR-4676-5p	CLIP-seq
MIRT1102956	hsa-miR-4684-3p	CLIP-seq
MIRT1102957	hsa-miR-4698	CLIP-seq
MIRT2559679	hsa-miR-4704-5p	CLIP-seq
MIRT2559680	hsa-miR-4724-3p	CLIP-seq
MIRT2559681	hsa-miR-4725-5p	CLIP-seq
MIRT2559682	hsa-miR-4729	CLIP-seq
MIRT2559683	hsa-miR-4735-5p	CLIP-seq
MIRT2559684	hsa-miR-4742-3p	CLIP-seq
MIRT2559685	hsa-miR-4744	CLIP-seq
MIRT2559686	hsa-miR-4762-3p	CLIP-seq
MIRT2559687	hsa-miR-4765	CLIP-seq
MIRT2559688	hsa-miR-4766-5p	CLIP-seq
MIRT2559689	hsa-miR-4774-3p	CLIP-seq
MIRT2559690	hsa-miR-4794	CLIP-seq
MIRT2559691	hsa-miR-4796-3p	CLIP-seq
MIRT2559692	hsa-miR-499-3p	CLIP-seq
MIRT2559693	hsa-miR-499a-3p	CLIP-seq
MIRT2559694	hsa-miR-504	CLIP-seq
MIRT2559695	hsa-miR-518a-5p	CLIP-seq
MIRT2559696	hsa-miR-519a	CLIP-seq
MIRT2559697	hsa-miR-519b-3p	CLIP-seq
MIRT2559698	hsa-miR-519c-3p	CLIP-seq
MIRT2559699	hsa-miR-519d	CLIP-seq
MIRT2559700	hsa-miR-527	CLIP-seq
MIRT2559701	hsa-miR-548ad	CLIP-seq
MIRT2559702	hsa-miR-548ah	CLIP-seq
MIRT2559703	hsa-miR-548l	CLIP-seq
MIRT2559704	hsa-miR-548v	CLIP-seq
MIRT2259340	hsa-miR-556-5p	CLIP-seq
MIRT2559705	hsa-miR-575	CLIP-seq
MIRT2559706	hsa-miR-579	CLIP-seq
MIRT2559707	hsa-miR-586	CLIP-seq
MIRT2559708	hsa-miR-593	CLIP-seq
MIRT2559709	hsa-miR-600	CLIP-seq
MIRT2559710	hsa-miR-617	CLIP-seq
MIRT2559711	hsa-miR-634	CLIP-seq
MIRT2559712	hsa-miR-643	CLIP-seq
MIRT2559713	hsa-miR-659	CLIP-seq
MIRT2559714	hsa-miR-760	CLIP-seq
MIRT2559715	hsa-miR-888	CLIP-seq
MIRT2559716	hsa-miR-892b	CLIP-seq
MIRT2559717	hsa-miR-93	CLIP-seq
MIRT2559617	hsa-miR-105	CLIP-seq
MIRT2559618	hsa-miR-106a	CLIP-seq
MIRT2559619	hsa-miR-106b	CLIP-seq
MIRT2559620	hsa-miR-10a	CLIP-seq
MIRT2559621	hsa-miR-10b	CLIP-seq
MIRT2559622	hsa-miR-1267	CLIP-seq
MIRT2559624	hsa-miR-1288	CLIP-seq
MIRT2559625	hsa-miR-132	CLIP-seq
MIRT2559626	hsa-miR-1324	CLIP-seq
MIRT2559627	hsa-miR-149	CLIP-seq
MIRT2559628	hsa-miR-17	CLIP-seq
MIRT2559629	hsa-miR-182	CLIP-seq
MIRT1102952	hsa-miR-183	CLIP-seq
MIRT2559631	hsa-miR-1910	CLIP-seq
MIRT2559632	hsa-miR-193a-3p	CLIP-seq
MIRT2559633	hsa-miR-193b	CLIP-seq
MIRT1102953	hsa-miR-203	CLIP-seq
MIRT2559634	hsa-miR-20a	CLIP-seq
MIRT2559635	hsa-miR-20b	CLIP-seq
MIRT2559636	hsa-miR-212	CLIP-seq
MIRT2559637	hsa-miR-219-2-3p	CLIP-seq
MIRT2559640	hsa-miR-2277-3p	CLIP-seq
MIRT2559641	hsa-miR-2681	CLIP-seq
MIRT2559642	hsa-miR-2964a-3p	CLIP-seq
MIRT2559643	hsa-miR-299-5p	CLIP-seq
MIRT2559644	hsa-miR-3064-5p	CLIP-seq
MIRT2559645	hsa-miR-30a	CLIP-seq
MIRT2559646	hsa-miR-30b	CLIP-seq
MIRT2559647	hsa-miR-30c	CLIP-seq
MIRT2559648	hsa-miR-30d	CLIP-seq
MIRT2559649	hsa-miR-30e	CLIP-seq
MIRT2559650	hsa-miR-3121-3p	CLIP-seq
MIRT2028172	hsa-miR-3126-3p	CLIP-seq
MIRT2559652	hsa-miR-3152-5p	CLIP-seq
MIRT1102954	hsa-miR-3163	CLIP-seq
MIRT2559653	hsa-miR-3169	CLIP-seq
MIRT2559654	hsa-miR-3200-3p	CLIP-seq
MIRT2559655	hsa-miR-3591-5p	CLIP-seq
MIRT2559656	hsa-miR-3607-3p	CLIP-seq
MIRT2559657	hsa-miR-3609	CLIP-seq
MIRT2559658	hsa-miR-3647-3p	CLIP-seq
MIRT2559660	hsa-miR-3670	CLIP-seq
MIRT2559661	hsa-miR-3672	CLIP-seq
MIRT2559662	hsa-miR-3686	CLIP-seq
MIRT2559663	hsa-miR-371b-5p	CLIP-seq
MIRT2559664	hsa-miR-374a	CLIP-seq
MIRT2559665	hsa-miR-374b	CLIP-seq
MIRT2559666	hsa-miR-409-3p	CLIP-seq
MIRT1102955	hsa-miR-410	CLIP-seq
MIRT2559667	hsa-miR-425	CLIP-seq
MIRT2559668	hsa-miR-4252	CLIP-seq
MIRT2559669	hsa-miR-4255	CLIP-seq
MIRT2683721	hsa-miR-4307	CLIP-seq
MIRT2559670	hsa-miR-4423-3p	CLIP-seq
MIRT2559671	hsa-miR-4452	CLIP-seq
MIRT2559672	hsa-miR-4470	CLIP-seq
MIRT2559673	hsa-miR-4474-5p	CLIP-seq
MIRT2559674	hsa-miR-4499	CLIP-seq
MIRT2559675	hsa-miR-4652-3p	CLIP-seq
MIRT2559676	hsa-miR-4655-5p	CLIP-seq
MIRT2559677	hsa-miR-4662a-5p	CLIP-seq
MIRT2559678	hsa-miR-4676-5p	CLIP-seq
MIRT1102956	hsa-miR-4684-3p	CLIP-seq
MIRT1102957	hsa-miR-4698	CLIP-seq
MIRT2559679	hsa-miR-4704-5p	CLIP-seq
MIRT2559680	hsa-miR-4724-3p	CLIP-seq
MIRT2559681	hsa-miR-4725-5p	CLIP-seq
MIRT2559682	hsa-miR-4729	CLIP-seq
MIRT2559683	hsa-miR-4735-5p	CLIP-seq
MIRT2559686	hsa-miR-4762-3p	CLIP-seq
MIRT2559687	hsa-miR-4765	CLIP-seq
MIRT2559689	hsa-miR-4774-3p	CLIP-seq
MIRT2559690	hsa-miR-4794	CLIP-seq
MIRT2559691	hsa-miR-4796-3p	CLIP-seq
MIRT2559694	hsa-miR-504	CLIP-seq
MIRT2559695	hsa-miR-518a-5p	CLIP-seq
MIRT2559699	hsa-miR-519d	CLIP-seq
MIRT2559700	hsa-miR-527	CLIP-seq
MIRT2559702	hsa-miR-548ah	CLIP-seq
MIRT2259340	hsa-miR-556-5p	CLIP-seq
MIRT2559705	hsa-miR-575	CLIP-seq
MIRT2559706	hsa-miR-579	CLIP-seq
MIRT2559707	hsa-miR-586	CLIP-seq
MIRT2559708	hsa-miR-593	CLIP-seq
MIRT2559711	hsa-miR-634	CLIP-seq
MIRT2559712	hsa-miR-643	CLIP-seq
MIRT2559713	hsa-miR-659	CLIP-seq
MIRT2559714	hsa-miR-760	CLIP-seq
MIRT2559715	hsa-miR-888	CLIP-seq
MIRT2559716	hsa-miR-892b	CLIP-seq
MIRT2559717	hsa-miR-93	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003674	Function	Molecular_function	ND
GO:0003682	Function	Chromatin binding	IBA	21873635
GO:0005515	Function	Protein binding	IPI	17517653, 21516116, 22157815, 25416956, 31515488
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0006325	Process	Chromatin organization	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0030225	Process	Macrophage differentiation	IEA
GO:0030851	Process	Granulocyte differentiation	IEA
GO:0042393	Function	Histone binding	IBA	21873635
GO:0042802	Function	Identical protein binding	IPI	21516116, 25416956, 31515488
GO:0043249	Process	Erythrocyte maturation	IEA
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IBA	21873635

Other IDs

• MIM: 618844
• HGNC: 23035
• e!Ensembl: ENSG00000198945

Protein

• UniProt ID: Q96JM7
• Protein name: Lethal(3)malignant brain tumor-like protein 3 (H-l(3)mbt-like protein 3) (L(3)mbt-like protein 3) (L3mbt-like 3) (MBT-1)
• Protein function: Is a negative regulator of Notch target genes expression, required for RBPJ-mediated transcriptional repression (PubMed:29030483). It recruits KDM1A to Notch-responsive elements and promotes KDM1A-mediated H3K4me demethylation (PubMed:29030483).
• PDB: 1WJQ, 1WJS, 3UT1, 4FL6, 4L59, 7RTE, 7RTI, 8Y76, 8Y77
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02820	MBT	268 → 336	mbt repeat	Domain
  PF02820	MBT	375 → 443	mbt repeat	Domain
  PF02820	MBT	479 → 545	mbt repeat	Domain
  PF00536	SAM_1	706 → 770	SAM domain (Sterile alpha motif)	Domain

• Sequence:

  MTESASSTSGQEFDVFSVMDWKDGVGTLPGSDLKFRVNEFGALEVITDENEMENVKKATA
  TTTWMVPTAQEAPTSPPSSRPVFPPAYWTSPPGCPTVFSEKTGMPFRLKDPVKVEGLQFC
  ENCCQYGNVDECLSGGNYCSQNCARHIKDKDQKEERDVEEDNEEEDPKCSRKKKPKLSLK
  ADTKEDGEERDDEMENKQDVRILRGSQRARRKRRGDSAVLKQGLPPKGKKAWCWASYLEE
  EKAVAVPAKLFKEHQSFPYNKNGFKVGMKLEGVDPEHQSVYCVLTVAEVCGYRIKLHFDG
  YSDCYDFWVNADALDIHPVGWCEKTGHKLHPPKGYKEEEFNWQTYLKTCKAQAAPKSLFE
  NQNITVIPSGFRVGMKLEAVDKKNPSFICVATVTDMVDNRFLVHFDNWDESYDYWCEASS
  PHIHPVGWCKEHRRTLITPPGYPNVKHFSWDKYLEETNSLPAPARAFKVKPPHGFQKKMK
  LEVVDKRNPMFIRVATVADTDDHRVKVHFDGWNNCYDYWIDADSPDIHPVGWCSKTGHPL
  QPPLSPLELMEASEHGGCSTPGCKGIGHFKRARHLGPHSAANCPYSEINLNKDRIFPDRL
  SGEMPPASPSFPRNKRTDANESSSSPEIRDQHADDVKEDFEERTESEMRTSHEARGAREE
  PTVQQAQRRSAVFLSFKSPIPCLPLRWEQQSKLLPTVAGIPASKVSKWSTDEVSEFIQSL
  PGCEEHGKVFKDEQIDGEAFLLMTQTDIVKIMSIKLGPALKIFNSILMFKAAEKNSHNEL
  

• Sequence length: 780

Pathways

KEGG:

Polycomb repressive complex

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	29915430
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	29058716, 29059683, 29915430
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	29915430
Medulloblastoma	Medulloblastoma, Childhood Medulloblastoma, Adult Medulloblastoma, Desmoplastic Medulloblastoma, Melanotic medulloblastoma	rs1589970134, rs587776578, rs587776579, rs17847577, rs111033171, rs80359604, rs80358785, rs80358814, rs863224925, rs1555950011, rs1554231278, rs926177767, rs759412460, rs1564032829, rs761911009	19270706

Unknown
Disease term	Disease name	Evidence	References	Source
Multiple Sclerosis	Multiple Sclerosis			GWAS
Kidney Disease	Kidney Disease			GWAS
Diabetes	Diabetes			GWAS
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA
Hypertension	Hypertension			GWAS
Oligodendroglioma	Oligodendroglioma			GWAS
Prostate cancer	Prostate cancer	Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population.		GWAS, CBGDA
Myocardial Infarction	Myocardial Infarction			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Breast Neoplasms	Associate	27432226, 39614330
Colorectal Neoplasms	Associate	28115406
Diabetes Mellitus Type 2	Associate	23626757
Hereditary Breast and Ovarian Cancer Syndrome	Associate	28115406
Hypertrophy	Associate	32349335
Inflammatory Bowel Diseases	Associate	24911414
Multiple Sclerosis	Associate	27386562, 35088080
Neoplasms	Associate	27432226
Ovarian Diseases	Associate	28115406
Ovarian Neoplasms	Stimulate	27432226
Ovarian Neoplasms	Associate	27432226
Prostatic Neoplasms	Associate	28115406