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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	54880
Gene name Gene Name - the full gene name approved by the HGNC.	BCL6 corepressor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	BCOR
Synonyms (NCBI Gene) Gene synonyms aliases	ANOP2, MAA2, MCOPS2
Disease Acronyms (UniProt) Disease acronyms from UniProt database	MCOPS2
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xp11.4
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene was identified as an interacting corepressor of BCL6, a POZ/zinc finger transcription repressor that is required for germinal center formation and may influence apoptosis. This protein selectively interacts with the POZ do

Show/Hide all(49)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434618	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs121434619	G>A	Pathogenic	Coding sequence variant, stop gained
rs138137552	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs142595337	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs142686469	C>G,T	Conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs143119333	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs144722432	C>T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant
rs147497014	G>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs151177114	G>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant
rs368780561	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs369432845	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs398124313	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs727503826	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs730880013	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs730880034	TGGCA>-	Pathogenic	Frameshift variant, coding sequence variant
rs748074364	->G	Pathogenic	Frameshift variant, coding sequence variant
rs753256966	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs753531268	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs753786462	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs775994643	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs780712297	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs797044647	->G	Pathogenic	Frameshift variant, coding sequence variant
rs863224850	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs864309680	TCTC>-	Pathogenic	Frameshift variant, coding sequence variant
rs864309702	AACT>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041725	->T	Pathogenic	Frameshift variant, coding sequence variant
rs886042842	CT>-	Other, pathogenic	Frameshift variant, coding sequence variant
rs1131691389	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555913327	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555913337	TAGAAGTCCCAAGTGC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555915744	GTCTCAGTG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1555915763	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555915785	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1555915852	->ATCA	Pathogenic	Stop gained, coding sequence variant
rs1555915854	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555918014	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555918056	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555919695	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1555919843	TTGT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555919960	->GT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1569146193	C>A	Pathogenic	Splice acceptor variant
rs1569153948	C>A	Pathogenic	Coding sequence variant, stop gained
rs1602124517	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602130188	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602130230	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602131169	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602131405	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1602147278	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602148660	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(149)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016675	hsa-miR-425-5p	Sequencing	20371350
MIRT024747	hsa-miR-215-5p	Microarray	19074876
MIRT026271	hsa-miR-192-5p	Microarray	19074876
MIRT052633	hsa-let-7a-5p	CLASH	23622248
MIRT052633	hsa-let-7a-5p	CLASH	23622248
MIRT052180	hsa-let-7b-5p	CLASH	23622248
MIRT051754	hsa-let-7c-5p	CLASH	23622248
MIRT051754	hsa-let-7c-5p	CLASH	23622248
MIRT051395	hsa-let-7f-5p	CLASH	23622248
MIRT045914	hsa-miR-125b-5p	CLASH	23622248
MIRT045797	hsa-miR-191-5p	CLASH	23622248
MIRT045797	hsa-miR-191-5p	CLASH	23622248
MIRT044816	hsa-miR-320a	CLASH	23622248
MIRT043816	hsa-miR-328-3p	CLASH	23622248
MIRT042721	hsa-miR-346	CLASH	23622248
MIRT040487	hsa-miR-598-3p	CLASH	23622248
MIRT039646	hsa-miR-615-3p	CLASH	23622248
MIRT039646	hsa-miR-615-3p	CLASH	23622248
MIRT568287	hsa-miR-142-5p	PAR-CLIP	20371350
MIRT568286	hsa-miR-5590-3p	PAR-CLIP	20371350
MIRT109882	hsa-miR-340-5p	PAR-CLIP	20371350
MIRT568285	hsa-miR-5197-3p	PAR-CLIP	20371350
MIRT259622	hsa-miR-410-3p	PAR-CLIP	20371350
MIRT568284	hsa-miR-3145-3p	PAR-CLIP	20371350
MIRT568283	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT568282	hsa-miR-5007-3p	PAR-CLIP	20371350
MIRT568281	hsa-miR-4753-3p	PAR-CLIP	20371350
MIRT568280	hsa-miR-6809-3p	PAR-CLIP	20371350
MIRT568279	hsa-miR-335-3p	PAR-CLIP	20371350
MIRT568287	hsa-miR-142-5p	PAR-CLIP	20371350
MIRT568286	hsa-miR-5590-3p	PAR-CLIP	20371350
MIRT109882	hsa-miR-340-5p	PAR-CLIP	20371350
MIRT568285	hsa-miR-5197-3p	PAR-CLIP	20371350
MIRT259622	hsa-miR-410-3p	PAR-CLIP	20371350
MIRT568284	hsa-miR-3145-3p	PAR-CLIP	20371350
MIRT568283	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT568282	hsa-miR-5007-3p	PAR-CLIP	20371350
MIRT568281	hsa-miR-4753-3p	PAR-CLIP	20371350
MIRT568280	hsa-miR-6809-3p	PAR-CLIP	20371350
MIRT568279	hsa-miR-335-3p	PAR-CLIP	20371350
MIRT820216	hsa-miR-139-5p	CLIP-seq
MIRT820217	hsa-miR-3123	CLIP-seq
MIRT820218	hsa-miR-3714	CLIP-seq
MIRT820219	hsa-miR-3919	CLIP-seq
MIRT820220	hsa-miR-4699-3p	CLIP-seq
MIRT820221	hsa-miR-520d-5p	CLIP-seq
MIRT820222	hsa-miR-524-5p	CLIP-seq
MIRT820223	hsa-miR-548an	CLIP-seq
MIRT820224	hsa-miR-607	CLIP-seq
MIRT820225	hsa-miR-27a	CLIP-seq
MIRT820226	hsa-miR-27b	CLIP-seq
MIRT820227	hsa-miR-3647-3p	CLIP-seq
MIRT820228	hsa-miR-3924	CLIP-seq
MIRT820229	hsa-miR-4282	CLIP-seq
MIRT820230	hsa-miR-4803	CLIP-seq
MIRT820231	hsa-miR-513a-5p	CLIP-seq
MIRT820232	hsa-miR-590-3p	CLIP-seq
MIRT820224	hsa-miR-607	CLIP-seq
MIRT820233	hsa-miR-651	CLIP-seq
MIRT820234	hsa-miR-656	CLIP-seq
MIRT820235	hsa-miR-1264	CLIP-seq
MIRT820236	hsa-miR-141	CLIP-seq
MIRT820237	hsa-miR-200a	CLIP-seq
MIRT820238	hsa-miR-3159	CLIP-seq
MIRT820227	hsa-miR-3647-3p	CLIP-seq
MIRT820239	hsa-miR-371-5p	CLIP-seq
MIRT820228	hsa-miR-3924	CLIP-seq
MIRT820240	hsa-miR-3973	CLIP-seq
MIRT820241	hsa-miR-425	CLIP-seq
MIRT820229	hsa-miR-4282	CLIP-seq
MIRT820242	hsa-miR-4297	CLIP-seq
MIRT820243	hsa-miR-4457	CLIP-seq
MIRT820244	hsa-miR-4469	CLIP-seq
MIRT820245	hsa-miR-4778-3p	CLIP-seq
MIRT820246	hsa-miR-4789-3p	CLIP-seq
MIRT820247	hsa-miR-4802-3p	CLIP-seq
MIRT820248	hsa-miR-501-3p	CLIP-seq
MIRT820249	hsa-miR-502-3p	CLIP-seq
MIRT820250	hsa-miR-515-3p	CLIP-seq
MIRT820251	hsa-miR-519e	CLIP-seq
MIRT820252	hsa-miR-520g	CLIP-seq
MIRT820253	hsa-miR-520h	CLIP-seq
MIRT820254	hsa-miR-541	CLIP-seq
MIRT820232	hsa-miR-590-3p	CLIP-seq
MIRT820255	hsa-miR-603	CLIP-seq
MIRT820256	hsa-miR-642b	CLIP-seq
MIRT820257	hsa-miR-654-5p	CLIP-seq
MIRT820234	hsa-miR-656	CLIP-seq
MIRT1942395	hsa-miR-1179	CLIP-seq
MIRT1942396	hsa-miR-1305	CLIP-seq
MIRT820216	hsa-miR-139-5p	CLIP-seq
MIRT1942397	hsa-miR-224	CLIP-seq
MIRT1942398	hsa-miR-297	CLIP-seq
MIRT1942399	hsa-miR-3149	CLIP-seq
MIRT1942400	hsa-miR-323b-3p	CLIP-seq
MIRT1942401	hsa-miR-3911	CLIP-seq
MIRT820228	hsa-miR-3924	CLIP-seq
MIRT820240	hsa-miR-3973	CLIP-seq
MIRT1942402	hsa-miR-5095	CLIP-seq
MIRT820252	hsa-miR-520g	CLIP-seq
MIRT820253	hsa-miR-520h	CLIP-seq
MIRT820255	hsa-miR-603	CLIP-seq
MIRT1942403	hsa-miR-633	CLIP-seq
MIRT820234	hsa-miR-656	CLIP-seq
MIRT2181102	hsa-miR-1237	CLIP-seq
MIRT2181103	hsa-miR-1248	CLIP-seq
MIRT1942396	hsa-miR-1305	CLIP-seq
MIRT820216	hsa-miR-139-5p	CLIP-seq
MIRT820236	hsa-miR-141	CLIP-seq
MIRT820237	hsa-miR-200a	CLIP-seq
MIRT2181104	hsa-miR-2054	CLIP-seq
MIRT820238	hsa-miR-3159	CLIP-seq
MIRT2181105	hsa-miR-345	CLIP-seq
MIRT2181106	hsa-miR-380	CLIP-seq
MIRT820228	hsa-miR-3924	CLIP-seq
MIRT2181107	hsa-miR-4256	CLIP-seq
MIRT2181108	hsa-miR-4263	CLIP-seq
MIRT2181109	hsa-miR-4267	CLIP-seq
MIRT2181110	hsa-miR-4277	CLIP-seq
MIRT820243	hsa-miR-4457	CLIP-seq
MIRT2181111	hsa-miR-4495	CLIP-seq
MIRT820246	hsa-miR-4789-3p	CLIP-seq
MIRT820247	hsa-miR-4802-3p	CLIP-seq
MIRT820248	hsa-miR-501-3p	CLIP-seq
MIRT820249	hsa-miR-502-3p	CLIP-seq
MIRT820254	hsa-miR-541	CLIP-seq
MIRT2181112	hsa-miR-576-5p	CLIP-seq
MIRT820232	hsa-miR-590-3p	CLIP-seq
MIRT820255	hsa-miR-603	CLIP-seq
MIRT1942403	hsa-miR-633	CLIP-seq
MIRT820256	hsa-miR-642b	CLIP-seq
MIRT820257	hsa-miR-654-5p	CLIP-seq
MIRT820234	hsa-miR-656	CLIP-seq
MIRT820236	hsa-miR-141	CLIP-seq
MIRT820237	hsa-miR-200a	CLIP-seq
MIRT820238	hsa-miR-3159	CLIP-seq
MIRT820243	hsa-miR-4457	CLIP-seq
MIRT820246	hsa-miR-4789-3p	CLIP-seq
MIRT820248	hsa-miR-501-3p	CLIP-seq
MIRT820249	hsa-miR-502-3p	CLIP-seq
MIRT820256	hsa-miR-642b	CLIP-seq
MIRT820236	hsa-miR-141	CLIP-seq
MIRT820237	hsa-miR-200a	CLIP-seq
MIRT820238	hsa-miR-3159	CLIP-seq
MIRT820243	hsa-miR-4457	CLIP-seq
MIRT820246	hsa-miR-4789-3p	CLIP-seq
MIRT820248	hsa-miR-501-3p	CLIP-seq
MIRT820249	hsa-miR-502-3p	CLIP-seq
MIRT820256	hsa-miR-642b	CLIP-seq

Show/Hide all(25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	19578371
GO:0000415	Process	Negative regulation of histone H3-K36 methylation	IMP	19578371
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	IMP	19578371
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
GO:0001835	Process	Blastocyst hatching	IEA
GO:0003714	Function	Transcription corepressor activity	IDA	10898795
GO:0003714	Function	Transcription corepressor activity	IMP	15878880
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	16943429
GO:0005515	Function	Protein binding	IPI	10898795, 16713569, 16943429, 24981860, 26496610, 26687479, 27505670, 27705803
GO:0005634	Component	Nucleus	IDA	10898795, 25331958
GO:0005654	Component	Nucleoplasm	IDA
GO:0007507	Process	Heart development	IMP	17517692
GO:0008134	Function	Transcription factor binding	IPI	10898795
GO:0030502	Process	Negative regulation of bone mineralization	IMP	19578371
GO:0031072	Function	Heat shock protein binding	IDA	16943429
GO:0035518	Process	Histone H2A monoubiquitination	IDA	16943429
GO:0042476	Process	Odontogenesis	IMP	17517692
GO:0042826	Function	Histone deacetylase binding	IPI	10898795
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IDA	10898795
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IMP	15878880
GO:0051572	Process	Negative regulation of histone H3-K4 methylation	IMP	19578371
GO:0060021	Process	Roof of mouth development	IMP	17517692
GO:0065001	Process	Specification of axis polarity	IMP	17517692
GO:0070171	Process	Negative regulation of tooth mineralization	IMP	19578371
GO:0140261	Component	BCOR complex	IDA	16943429

MIM	HGNC	e!Ensembl
300485	20893	ENSG00000183337

Protein

UniProt ID

Q6W2J9

Protein name

BCL-6 corepressor (BCoR)

Protein function

Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions by sequence-specific DNA-binding proteins such as BCL6 and MLLT3. This repression may be mediated at least in part by histone deacetylase ac

PDB

2N1L , 3BIM , 4HPL , 6B7G , 8HCU

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15808	BCOR	1202 → 1414	BCL-6 co-repressor, non-ankyrin-repeat region	Family
PF12796	Ank_2	1467 → 1560	Ankyrin repeats (3 copies)	Repeat
PF16553	PUFD	1634 → 1747	BCORL-PCGF1-binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:10898795}.

Sequence

MLSATPLYGNVHSWMNSERVRMCGASEDRKILVNDGDASKARLELREENPLNHNVVDAST
AHRIDGLAALSMDRTGLIREGLRVPGNIVYSSLCGLGSEKGREAATSTLGGLGFSSERNP
EMQFKPNTPETVEASAVSGKPPNGFSAIYKTPPGIQKSAVATAEALGLDRPASDKQSPLN
INGASYLRLPWVNPYMEGATPAIYPFLDSPNKYSLNMYKALLPQQSYSLAQPLYSPVCTN
GERFLYLPPPHYVGPHIPSSLASPMRLSTPSASPAIPPLVHCADKSLPWKMGVSPGNPVD
SHAYPHIQNSKQPRVPSAKAVTSGLPGDTALLLPPSPRPSPRVHLPTQPAADTYSEFHKH
YARISTSPSVALSKPYMTVSSEFPAARLSNGKYPKAPEGGEGAQPVPGHARKTAVQDRKD
GSSPPLLEKQTVTKDVTDKPLDLSSKVVDVDASKADHMKKMAPTVLVHSRAGSGLVLSGS
EIPKETLSPPGNGCAIYRSEIISTAPSSWVVPGPSPNEENNGKSMSLKNKALDWAIPQQR
SSSCPRMGGTDAVITNVSGSVSSAGRPASASPAPNANADGTKTSRSSVETTPSVIQHVGQ
PPATPAKHSSSTSSKGAKASNPEPSFKANENGLPPSSIFLSPNEAFRSPPIPYPRSYLPY
PAPEGIAVSPLSLHGKGPVYPHPVLLPNGSLFPGHLAPKPGLPYGLPTGRPEFVTYQDAL
GLGMVHPMLIPHTPIEITKEEKPERRSRSHERARYEDPTLRNRFSEILETSSTKLHPDVP
TDKNLKPNPNWNQGKTVVKSDKLVYVDLLREEPDAKTDTNVSKPSFAAESVGQSAEPPKP
SVEPALQQHRDFIALREELGRISDFHETYTFKQPVFTVSKDSVLAGTNKENLGLPVSTPF
LEPPLGSDGPAVTFGKTQEDPKPFCVGSAPPSVDVTPTYTKDGADEAESNDGKVLKPKPS
KLAKRIANSAGYVGDRFKCVTTELYADSSQLSREQRALQMEGLQEDSILCLPAAYCERAM
MRFSELEMKEREGGHPATKDSEMCKFSPADWERLKGNQDKKPKSVTLEEAIAEQNESERC
EYSVGNKHRDPFEAPEDKDLPVEKYFVERQPVSEPPADQVASDMPHSPTLRVDRKRKVSG
DSSHTETTAEEVPEDPLLKAKRRRVSKDDWPEREMTNSSSNHLEDPHYSELTNLKVCIEL
TGLHPKKQRHLLHLRERWEQQVSAADGKPGRQSRKEVTQATQPEAIPQGTNITEEKPGRK
RAEAKGNRSWSEESLKPSDNEQGLPVFSGSPPMKSLSSTSAGGKKQAQPSCAPASRPPAK
QQKIKENQKTDVLCADEEEDCQAASLLQKYTDNSEKPSGKRLCKTKHLIPQESRRGLPLT
GEYYVENADGKVTVRRFRKRPEPSSDYDLSPAKQEPKPFDRLQQLLPASQSTQLPCSSSP
QETTQSRPMPPEARRLIVNKNAGETLLQRAARLGYEEVVLYCLENKICDVNHRDNAGYCA
LHEACARGWLNIVRHLLEYGADVNCSAQDGTRPLHDAVENDHLEIVRLLLSYGADPTLAT
YSGRTIMKMTHSELMEKFLTDYLNDLQGRNDDDASGTWDFYGSSVCEPDDESGYDVLANP
PGPEDQDDDDDAYSDVFEFEFSETPLLPCYNIQVSVAQGPRNWLLLSDVLKKLKMSSRIF
RCNFPNVEIVTIAEAEFYRQVSASLLFSCSKDLEAFNPESKELLDLVEFTNEIQTLLGSS
VEWLHPSDLASDNYW

Sequence length

1755

Interactions

View interactions

	KEGG
	Polycomb repressive complex

Show/Hide Causal Diseases (37)

Disease term	Disease name	dbSNP ID	References
Causal
Adenocarcinoma	Adenoid Cystic Carcinoma	rs121913530, rs886039394, rs121913474	23685749
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966 View all (89 more)
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074 View all (25 more)
Bicuspid aortic valve	Bicuspid aortic valve	rs1569484234, rs1569484208
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322 View all (150 more)
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Ectopia lentis	Ectopia Lentis	rs118203985, rs137854464, rs137854480, rs587776927, rs199473693, rs794726688, rs368482584, rs794726689, rs747160538, rs397514558, rs397515793, rs757318536, rs781691587, rs363806
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328 View all (29 more)
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Hirschsprung disease	Hirschsprung Disease	rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323 View all (4 more)
Hypofibrinogenemia	Hypofibrinogenemia	rs121913087, rs121913088, rs587776837, rs121909616, rs121909625, rs121909608, rs121909607, rs146387238, rs1578795296, rs1214070111, rs776817952, rs762964798, rs121909606, rs1414035000, rs1310452604
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297
Spastic diplegia	Little`s Disease	rs672601336
Mental retardation	Mild Mental Retardation, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Microphthalmia	Microphthalmia, Lenz type	rs587776595, rs121908189, rs587776596, rs104894663, rs121909127, rs1603388837, rs121909128, rs121912543, rs121912545, rs730882064, rs387907095, rs387907096, rs397514652, rs397514653, rs78931658 View all (28 more)
Syndromic microphthalmia	Microphthalmia, syndromic 1, Microphthalmia, syndromic 2, Anophthalmos	rs786205873, rs104894464, rs786205874, rs104894465, rs387906701, rs1566623121, rs786205879, rs1566624472, rs397514463, rs1566623392, rs387907252, rs397518481, rs397518482, rs397518483, rs587776457 View all (19 more)	15004558, 15770227, 22301464, 17517692, 19367324
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Mitral valve prolapse	Mitral Valve Prolapse Syndrome	rs768737101
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732
Nephroblastoma	Nephroblastoma	rs1553551874, rs1555913934, rs769116796	28825729
Neutropenia	Neutropenia	rs879253882
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Oculofaciocardiodental syndrome	Oculofaciocardiodental syndrome	rs121434618, rs1569146193, rs121434619, rs1602124517, rs1602131169, rs730880013, rs730880034, rs863224850, rs748074364, rs1555915854, rs1555918014, rs1555915785, rs1555915763, rs1555915744, rs1602130188 View all (7 more)
Oligodontia	Oligodontia	rs1591901585
Pancytopenia	Pancytopenia	rs869312883, rs770551610, rs1131690788, rs530073586, rs374333820
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Persistent hyperplastic primary vitreous	Persistent Hyperplastic Primary Vitreous	rs587777664, rs587777666, rs878853243
Radioulnar synostosis	Radioulnar Synostosis	rs1595756416, rs1595756703, rs1231501584, rs1595756962, rs1595757203, rs1595763070, rs1595766210
Retinal detachment	Retinal Detachment	rs1555976049, rs1592230091
Retinoblastoma	Retinoblastoma	rs587776779, rs587776780, rs3092891, rs137853292, rs137853293, rs587776781, rs587776782, rs121913301, rs1593538130, rs121913297, rs1555285429, rs587776784, rs587776785, rs587776786, rs387906520 View all (216 more)
Sarcoma	Clear Cell Sarcoma of Soft Tissue	rs11540652, rs104886003, rs137852790, rs1555927374	26098867
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Syndactyly	Syndactyly	rs878854345, rs104893635, rs28931600, rs587777050, rs587777051, rs606231304
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775
Wilms tumor	Bilateral Wilms Tumor	rs121918261, rs2116574924, rs587776573, rs587776574, rs121907900, rs121907901, rs587776576, rs121907909, rs121907906, rs587776577, rs121907911, rs80359604, rs80358785, rs104894855, rs122453119 View all (13 more)	28825729

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Source
Unknown
Otitis media	Recurrent otitis media	ClinVar
Ptosis	Blepharoptosis, Ptosis	ClinVar
Renal hypoplasia	Congenital hypoplasia of kidney	ClinVar

Show/Hide Text Mining Associations (114)

Disease Name	Relationship Type	References
Associations from Text Mining
Abnormalities Drug Induced	Associate	27428733, 31702654
Acute erythroleukemia	Associate	35967966
Adenosarcoma of the uterus	Associate	36639698
Anemia Aplastic	Associate	25139356, 26132940
Anodontia	Associate	30046887
Anophthalmos	Associate	24431331
Anterior segment mesenchymal dysgenesis	Associate	36261622, 39870121
Astrocytoma	Associate	32493417
Axenfeld Rieger syndrome	Associate	37895297
Bone Diseases	Associate	24515802
Brain Neoplasms	Associate	32383815
Calcinosis	Associate	33713516
Carcinoid Tumor	Associate	28834902
Carcinoma	Associate	25360585, 29192652, 30051528, 30789359, 32034283, 32972432, 34819304, 36853789, 38427748
Carcinoma Hepatocellular	Associate	24515802
Carcinoma Merkel Cell	Associate	39334415
Cataract	Associate	22983184, 29914532, 36261622, 39438869
Cell Transformation Viral	Associate	37399248
Central Nervous System Diseases	Associate	29226988, 32493417
Central Nervous System Infections	Associate	27825128, 29226988
Central Nervous System Neoplasms	Associate	27825128, 32493417, 38216991
Chondromatosis Synovial	Associate	31589790
Chondrosarcoma	Associate	31589790
Chondrosarcoma Extraskeletal Myxoid	Associate	34331570
Cleft Lip	Associate	28877219
Cleft Palate	Associate	31204702, 37399248
Cushing Syndrome	Associate	28834902
Deafness Congenital Heart Defects and Posterior Embryotoxon	Associate	29974297
Dental Caries	Associate	23470693
Desmoplastic Small Round Cell Tumor	Associate	26752546, 27428733
Developmental Disabilities	Associate	29974297
DiGeorge Syndrome	Associate	31204702
Endometrial Neoplasms	Associate	36958196
Endometrial Stromal Tumors	Associate	31768620, 33077922, 35738637, 36731460
Ependymoma	Associate	28453743
Epstein Barr Virus Infections	Associate	31822801
Eye Abnormalities	Associate	29974297, 37895297
Fibrosarcoma	Associate	28256570, 38427748
Gastro enteropancreatic neuroendocrine tumor	Associate	26684240
Genetic Diseases Inborn	Associate	20807888, 23470693, 27428733, 27914109, 28817404, 30789359, 32317704
Genetic Diseases X Linked	Associate	29974297
Glioma	Associate	28453743, 32493417, 37587886
Headache	Associate	33713516
Heart Defects Congenital	Associate	29974297
Heart Diseases	Associate	22983184
Heart Failure	Associate	30566180
Hematologic Neoplasms	Associate	34570179
Hereditary Breast and Ovarian Cancer Syndrome	Associate	36864468
Internal Hernia	Associate	36639698
Kidney Diseases	Associate	34819304
Kidney Neoplasms	Associate	28817404, 32628469
Leiomyosarcoma	Associate	29192652
LEOPARD Syndrome	Associate	31624251
Leukemia	Associate	35015684
Leukemia Lymphocytic Chronic B Cell	Associate	36567979
Leukemia Myeloid	Associate	36054881
Leukemia Myeloid Acute	Associate	22012066, 24047651, 24515802, 24923295, 25381129, 25550361, 27983727, 30480765, 32112433, 32380535, 32461631, 32833294, 35967966, 38019014, 38299584
Leukemia Myelomonocytic Chronic	Associate	24047651, 24515802
Leukemia Promyelocytic Acute	Associate	20807888, 24515802
Liposarcoma Myxoid	Associate	27428733, 27914109, 28817404, 29300189, 32034283, 32362012, 32372022, 39334415
Lung Diseases	Associate	29300189
Lung Neoplasms	Associate	37328769
Lymphoma	Associate	10898795, 29974297
Lymphoma B Cell Marginal Zone	Associate	28751561
Lymphoma Extranodal NK T Cell	Associate	25980440, 31822801
Lymphoma Large B Cell Diffuse	Associate	33468080
Lymphoma Mantle Cell	Associate	32584970
Lymphoma Non Hodgkin	Associate	28751561
Lymphoma T Cell	Associate	33468080
Lymphoma T Cell Peripheral	Associate	33468080
Malignant mesenchymal tumor	Associate	28256570, 28817404, 32372022, 34325058, 36853789, 38427748
MASS syndrome	Associate	32648496
Medulloblastoma	Associate	24515802, 28453743
Mesenchymoma	Associate	35836306
Microcephaly with Mental Retardation and Digital Anomalies	Associate	19449433
Microphthalmia syndromic 1	Associate	24515802, 29974297
Microphthalmia syndromic 2	Associate	19449433, 22012066, 22983184, 23470693, 29974297, 30046887, 30544426, 35130870, 36261622, 38178193, 39438869
Mucopolysaccharidoses Unclassified Types	Associate	25360585
Multiple Sclerosis	Associate	35905688
Muscular Dystrophy Duchenne	Associate	19449433
Myelodysplastic Syndromes	Associate	24047651, 24515802, 32380535, 33679746, 34461985, 37558665, 38299584
Myopia	Associate	29974297
Necrosis	Associate	29300189
Neoplasm Metastasis	Associate	29300189, 34967151
Neoplasms	Associate	20807888, 24285434, 24515802, 25980440, 26516930, 26573325, 26684240, 27126562, 27428733, 27537276, 27791010, 27825128, 28256570, 28621321, 28817404 View all (31 more)
Neoplasms	Inhibit	32493417, 38299584
Neoplasms Neuroepithelial	Associate	28256570, 28453743, 29226988, 31104347, 32383815, 33713516, 34325058, 36853789
Neuroendocrine Tumors	Associate	28834902
Neurofibrosarcoma	Associate	38178234
Obsessive Compulsive Disorder	Associate	27527274
Ovarian Diseases	Associate	35738637
Ovarian Neoplasms	Associate	27791010
Pancreatic Neoplasms	Associate	36690805
Pinealoma	Associate	28453743, 37587886
Platelet Disorder Familial with Associated Myeloid Malignancy	Associate	38019014
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	34581783
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	27022003, 27470916
Primary granulocytic sarcoma	Associate	28817404, 32648496
Retinitis	Associate	36261622
Retinoblastoma	Associate	24515802, 32139107
Rhabdomyosarcoma	Associate	27428733, 39368853
Sarcoma	Associate	25360585, 26573325, 26752546, 27428733, 28817404, 29104083, 29300189, 30474142, 31189997, 32871837, 33731886, 34103053, 34331570, 34819304, 35568949 View all (6 more)
Sarcoma	Stimulate	30864973
Sarcoma Clear Cell	Associate	26516930, 26573325, 26945340, 27428733, 28256570, 28817404, 30864973, 34325058, 35836306, 36563883, 36835166, 36853789
Sarcoma Endometrial Stromal	Associate	24285434, 27631520, 28621321, 29192652, 30789359, 32317704, 32352245, 33077922, 34302054, 34325058, 35738637, 36731460, 36864468, 38084541
Sarcoma Ewing	Associate	25360585, 29533464, 31702654, 34103053, 34331570, 39567898
Sarcoma Small Cell	Associate	29533464, 34103053, 40228447
Sarcoma Synovial	Associate	26752546, 27428733, 27914109, 28817404
Solitary Fibrous Tumors	Associate	30864973
Supratentorial Neoplasms	Associate	30514397
Thyroid Cancer Papillary	Associate	28834902
Tooth Abnormalities	Associate	38178193, 39438869
Vomiting	Associate	33713516
Wilms Tumor	Associate	28825729

BCOR (BCL6 corepressor)