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

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID	5371
Gene name	PML nuclear body scaffold
Gene symbol	PML
Synonyms (NCBI Gene)	MYLPP8675RNF71TRIM19
Chromosome	15
Chromosome location	15q24.1
Summary	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies wh

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miRTarBase ID	miRNA	Experiments	Reference
MIRT018318	hsa-miR-335-5p	Microarray	18185580
MIRT043919	hsa-miR-378a-3p	CLASH	23622248
MIRT042535	hsa-miR-423-3p	CLASH	23622248
MIRT042535	hsa-miR-423-3p	CLASH	23622248
MIRT1244408	hsa-miR-1227	CLIP-seq
MIRT1244409	hsa-miR-124	CLIP-seq
MIRT737808	hsa-miR-1265	CLIP-seq
MIRT737804	hsa-miR-1303	CLIP-seq
MIRT1244410	hsa-miR-1321	CLIP-seq
MIRT1244411	hsa-miR-2113	CLIP-seq
MIRT737809	hsa-miR-2392	CLIP-seq
MIRT1244412	hsa-miR-3065-5p	CLIP-seq
MIRT737807	hsa-miR-3123	CLIP-seq
MIRT737810	hsa-miR-3137	CLIP-seq
MIRT737805	hsa-miR-3154	CLIP-seq
MIRT1244413	hsa-miR-3156-5p	CLIP-seq
MIRT1244414	hsa-miR-3173-3p	CLIP-seq
MIRT1244415	hsa-miR-3180-5p	CLIP-seq
MIRT1244416	hsa-miR-3194-3p	CLIP-seq
MIRT1244417	hsa-miR-3202	CLIP-seq
MIRT1244418	hsa-miR-3920	CLIP-seq
MIRT737806	hsa-miR-3925-5p	CLIP-seq
MIRT1244419	hsa-miR-4325	CLIP-seq
MIRT1244420	hsa-miR-4419a	CLIP-seq
MIRT1244421	hsa-miR-4510	CLIP-seq
MIRT1244422	hsa-miR-4533	CLIP-seq
MIRT1244423	hsa-miR-4536	CLIP-seq
MIRT1244424	hsa-miR-455-5p	CLIP-seq
MIRT1244425	hsa-miR-4688	CLIP-seq
MIRT1244426	hsa-miR-4739	CLIP-seq
MIRT1244427	hsa-miR-4756-5p	CLIP-seq
MIRT1244428	hsa-miR-4762-3p	CLIP-seq
MIRT1244429	hsa-miR-4779	CLIP-seq
MIRT1244430	hsa-miR-486-3p	CLIP-seq
MIRT1244431	hsa-miR-506	CLIP-seq
MIRT1244432	hsa-miR-513a-3p	CLIP-seq
MIRT1244433	hsa-miR-520a-5p	CLIP-seq
MIRT1244434	hsa-miR-525-5p	CLIP-seq
MIRT1244435	hsa-miR-569	CLIP-seq
MIRT1244436	hsa-miR-659	CLIP-seq
MIRT737811	hsa-miR-942	CLIP-seq
MIRT1244417	hsa-miR-3202	CLIP-seq
MIRT1244422	hsa-miR-4533	CLIP-seq
MIRT737808	hsa-miR-1265	CLIP-seq
MIRT737804	hsa-miR-1303	CLIP-seq
MIRT737809	hsa-miR-2392	CLIP-seq
MIRT737807	hsa-miR-3123	CLIP-seq
MIRT737810	hsa-miR-3137	CLIP-seq
MIRT737805	hsa-miR-3154	CLIP-seq
MIRT737806	hsa-miR-3925-5p	CLIP-seq
MIRT737811	hsa-miR-942	CLIP-seq
MIRT737808	hsa-miR-1265	CLIP-seq
MIRT737804	hsa-miR-1303	CLIP-seq
MIRT737809	hsa-miR-2392	CLIP-seq
MIRT737807	hsa-miR-3123	CLIP-seq
MIRT737810	hsa-miR-3137	CLIP-seq
MIRT737805	hsa-miR-3154	CLIP-seq
MIRT737806	hsa-miR-3925-5p	CLIP-seq
MIRT737811	hsa-miR-942	CLIP-seq
MIRT737808	hsa-miR-1265	CLIP-seq
MIRT737804	hsa-miR-1303	CLIP-seq
MIRT737809	hsa-miR-2392	CLIP-seq
MIRT737807	hsa-miR-3123	CLIP-seq
MIRT737810	hsa-miR-3137	CLIP-seq
MIRT737805	hsa-miR-3154	CLIP-seq
MIRT737806	hsa-miR-3925-5p	CLIP-seq
MIRT737811	hsa-miR-942	CLIP-seq
MIRT737808	hsa-miR-1265	CLIP-seq
MIRT737804	hsa-miR-1303	CLIP-seq
MIRT737809	hsa-miR-2392	CLIP-seq
MIRT737807	hsa-miR-3123	CLIP-seq
MIRT737810	hsa-miR-3137	CLIP-seq
MIRT737805	hsa-miR-3154	CLIP-seq
MIRT737806	hsa-miR-3925-5p	CLIP-seq
MIRT737811	hsa-miR-942	CLIP-seq
MIRT1244417	hsa-miR-3202	CLIP-seq
MIRT2072199	hsa-miR-4313	CLIP-seq
MIRT2072200	hsa-miR-4492	CLIP-seq
MIRT2072201	hsa-miR-4498	CLIP-seq
MIRT1244422	hsa-miR-4533	CLIP-seq
MIRT2072202	hsa-miR-4645-5p	CLIP-seq
MIRT2072203	hsa-miR-4667-3p	CLIP-seq
MIRT2072204	hsa-miR-4673	CLIP-seq
MIRT2072205	hsa-miR-4675	CLIP-seq
MIRT2072206	hsa-miR-4685-5p	CLIP-seq
MIRT2072207	hsa-miR-4741	CLIP-seq
MIRT2072208	hsa-miR-4742-5p	CLIP-seq
MIRT2072209	hsa-miR-4776-3p	CLIP-seq
MIRT2072210	hsa-miR-762	CLIP-seq
MIRT2299469	hsa-miR-1293	CLIP-seq
MIRT2299470	hsa-miR-1298	CLIP-seq
MIRT2299471	hsa-miR-323-5p	CLIP-seq
MIRT2299472	hsa-miR-342-5p	CLIP-seq
MIRT2299473	hsa-miR-3689a-3p	CLIP-seq
MIRT2299474	hsa-miR-3689c	CLIP-seq
MIRT2299475	hsa-miR-4446-3p	CLIP-seq
MIRT2299476	hsa-miR-4483	CLIP-seq
MIRT2072200	hsa-miR-4492	CLIP-seq
MIRT2072201	hsa-miR-4498	CLIP-seq
MIRT2299477	hsa-miR-4505	CLIP-seq
MIRT2072202	hsa-miR-4645-5p	CLIP-seq
MIRT2299478	hsa-miR-4651	CLIP-seq
MIRT2299479	hsa-miR-4664-5p	CLIP-seq
MIRT2072204	hsa-miR-4673	CLIP-seq
MIRT2299480	hsa-miR-4721	CLIP-seq
MIRT2299481	hsa-miR-4728-5p	CLIP-seq
MIRT2299482	hsa-miR-4731-5p	CLIP-seq
MIRT2299483	hsa-miR-608	CLIP-seq
MIRT2299484	hsa-miR-664	CLIP-seq
MIRT2072210	hsa-miR-762	CLIP-seq
MIRT737808	hsa-miR-1265	CLIP-seq
MIRT737804	hsa-miR-1303	CLIP-seq
MIRT737809	hsa-miR-2392	CLIP-seq
MIRT737807	hsa-miR-3123	CLIP-seq
MIRT737810	hsa-miR-3137	CLIP-seq
MIRT737805	hsa-miR-3154	CLIP-seq
MIRT737806	hsa-miR-3925-5p	CLIP-seq
MIRT2072199	hsa-miR-4313	CLIP-seq
MIRT2072202	hsa-miR-4645-5p	CLIP-seq
MIRT2072203	hsa-miR-4667-3p	CLIP-seq
MIRT2072204	hsa-miR-4673	CLIP-seq
MIRT2072208	hsa-miR-4742-5p	CLIP-seq
MIRT737811	hsa-miR-942	CLIP-seq
MIRT737808	hsa-miR-1265	CLIP-seq
MIRT737804	hsa-miR-1303	CLIP-seq
MIRT737809	hsa-miR-2392	CLIP-seq
MIRT737807	hsa-miR-3123	CLIP-seq
MIRT737810	hsa-miR-3137	CLIP-seq
MIRT737805	hsa-miR-3154	CLIP-seq
MIRT737806	hsa-miR-3925-5p	CLIP-seq
MIRT737811	hsa-miR-942	CLIP-seq
MIRT737808	hsa-miR-1265	CLIP-seq
MIRT737804	hsa-miR-1303	CLIP-seq
MIRT737809	hsa-miR-2392	CLIP-seq
MIRT737807	hsa-miR-3123	CLIP-seq
MIRT737810	hsa-miR-3137	CLIP-seq
MIRT737805	hsa-miR-3154	CLIP-seq
MIRT737806	hsa-miR-3925-5p	CLIP-seq
MIRT737811	hsa-miR-942	CLIP-seq
MIRT737808	hsa-miR-1265	CLIP-seq
MIRT737804	hsa-miR-1303	CLIP-seq
MIRT737809	hsa-miR-2392	CLIP-seq
MIRT737807	hsa-miR-3123	CLIP-seq
MIRT737810	hsa-miR-3137	CLIP-seq
MIRT737805	hsa-miR-3154	CLIP-seq
MIRT737806	hsa-miR-3925-5p	CLIP-seq
MIRT737811	hsa-miR-942	CLIP-seq
MIRT2596116	hsa-miR-1914	CLIP-seq
MIRT2596117	hsa-miR-2114	CLIP-seq
MIRT2596118	hsa-miR-339-5p	CLIP-seq
MIRT2596119	hsa-miR-4676-5p	CLIP-seq
MIRT2596120	hsa-miR-575	CLIP-seq
MIRT2688245	hsa-miR-1	CLIP-seq
MIRT2688246	hsa-miR-1253	CLIP-seq
MIRT2688247	hsa-miR-1255a	CLIP-seq
MIRT2688248	hsa-miR-1255b	CLIP-seq
MIRT2688249	hsa-miR-1264	CLIP-seq
MIRT2688250	hsa-miR-132	CLIP-seq
MIRT2688251	hsa-miR-206	CLIP-seq
MIRT2688252	hsa-miR-212	CLIP-seq
MIRT2688253	hsa-miR-3673	CLIP-seq
MIRT2688254	hsa-miR-4300	CLIP-seq
MIRT2688255	hsa-miR-4633-3p	CLIP-seq
MIRT2688256	hsa-miR-613	CLIP-seq
MIRT2688257	hsa-miR-920	CLIP-seq

Show/Hide all (7)

Transcription factor	Regulation	Reference
ARID3A	Activation	22010578
IRF9	Activation	8681971
PML	Activation	15529177
STAT1	Activation	21115099;22589541
STAT1	Unknown	15519999
STAT2	Unknown	17062732
TP53	Activation	14992722

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000781	Component	Chromosome, telomeric region	IDA	26119943
GO:0001666	Process	Response to hypoxia	IDA	16915281
GO:0001666	Process	Response to hypoxia	IEA
GO:0001666	Process	Response to hypoxia	IEA
GO:0002230	Process	Positive regulation of defense response to virus by host	IMP	16873256, 16873257
GO:0002376	Process	Immune system process	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003713	Function	Transcription coactivator activity	IDA	11080164, 15626733
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0005515	Function	Protein binding	IPI	9294197, 9448006, 9570750, 9885291, 10597310, 10610177, 10669754, 10684855, 10938104, 11080164, 11259576, 11500381, 11948183, 12006491, 12402044, 12529400, 12773567, 12915590, 14517282, 14976184, 15195100, 15467728, 15626733, 16322229, 16501113, 16873060, 16915281, 17036045, 1829879
GO:0005634	Component	Nucleus	IDA	9294197, 9412458, 16778193, 22274616
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IBA
GO:0005654	Component	Nucleoplasm	IDA	12915590
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA	15195100, 16778193
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IDA	9885291, 16778193, 18298799
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005829	Component	Cytosol	TAS
GO:0006338	Process	Chromatin remodeling	IDA	11259576
GO:0006355	Process	Regulation of DNA-templated transcription	IMP	23007646
GO:0006605	Process	Protein targeting	IDA	11080164
GO:0006605	Process	Protein targeting	IMP	15195100
GO:0006606	Process	Protein import into nucleus	IEA
GO:0006915	Process	Apoptotic process	IDA	9583681
GO:0006915	Process	Apoptotic process	IEA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IEA
GO:0008270	Function	Zinc ion binding	IDA	7729428
GO:0008270	Function	Zinc ion binding	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IMP	12006491
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IBA
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IDA	12402044
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IEA
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IEA
GO:0008631	Process	Intrinsic apoptotic signaling pathway in response to oxidative stress	IEA
GO:0009411	Process	Response to UV	IEA
GO:0010332	Process	Response to gamma radiation	IEA
GO:0010522	Process	Regulation of calcium ion transport into cytosol	IEA
GO:0010522	Process	Regulation of calcium ion transport into cytosol	ISS
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010761	Process	Fibroblast migration	IEA
GO:0016020	Component	Membrane	IEA
GO:0016363	Component	Nuclear matrix	IDA	11080164
GO:0016363	Component	Nuclear matrix	IEA
GO:0016525	Process	Negative regulation of angiogenesis	IEA
GO:0016525	Process	Negative regulation of angiogenesis	IEA
GO:0016525	Process	Negative regulation of angiogenesis	IMP	16915281
GO:0016605	Component	PML body	IBA
GO:0016605	Component	PML body	IDA	9412458, 9448006, 9885291, 10910364, 11331580, 12917339, 15195100, 17081985, 22155184, 22869143, 23007646, 23431171, 36373674
GO:0016605	Component	PML body	IEA
GO:0016605	Component	PML body	TAS	9230084
GO:0016740	Function	Transferase activity	IEA
GO:0016925	Process	Protein sumoylation	IEA
GO:0016925	Process	Protein sumoylation	TAS
GO:0019789	Function	SUMO transferase activity	EXP	12393906, 20972456
GO:0019789	Function	SUMO transferase activity	IBA
GO:0030099	Process	Myeloid cell differentiation	IEA
GO:0030155	Process	Regulation of cell adhesion	IEA
GO:0030308	Process	Negative regulation of cell growth	IDA	7935403, 9395203, 9448006, 9583681
GO:0030330	Process	DNA damage response, signal transduction by p53 class mediator	IEA
GO:0030330	Process	DNA damage response, signal transduction by p53 class mediator	ISS
GO:0030578	Process	PML body organization	IDA	8643677, 10779416
GO:0030578	Process	PML body organization	IEA
GO:0030578	Process	PML body organization	IEA
GO:0030578	Process	PML body organization	IMP	17081985
GO:0031503	Process	Protein-containing complex localization	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	12915590
GO:0031901	Component	Early endosome membrane	IEA
GO:0031965	Component	Nuclear membrane	IDA	16778193
GO:0032183	Function	SUMO binding	IPI	17081985
GO:0032206	Process	Positive regulation of telomere maintenance	IMP	22641345, 26119943
GO:0032211	Process	Negative regulation of telomere maintenance via telomerase	IMP	19567472
GO:0032469	Process	Endoplasmic reticulum calcium ion homeostasis	IEA
GO:0032469	Process	Endoplasmic reticulum calcium ion homeostasis	ISS
GO:0032691	Process	Negative regulation of interleukin-1 beta production	IEA
GO:0032692	Process	Negative regulation of interleukin-1 production	IEA
GO:0032922	Process	Circadian regulation of gene expression	IEA
GO:0032922	Process	Circadian regulation of gene expression	ISS
GO:0032938	Process	Negative regulation of translation in response to oxidative stress	IDA	16915281
GO:0034097	Process	Response to cytokine	IDA	9412458
GO:0034097	Process	Response to cytokine	IEA
GO:0034504	Process	Protein localization to nucleus	IEA
GO:0042752	Process	Regulation of circadian rhythm	IEA
GO:0042752	Process	Regulation of circadian rhythm	ISS
GO:0042771	Process	Intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IEA
GO:0042771	Process	Intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	ISS
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0042803	Function	Protein homodimerization activity	IPI	9230084
GO:0043153	Process	Entrainment of circadian clock by photoperiod	IEA
GO:0043153	Process	Entrainment of circadian clock by photoperiod	ISS
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	22406621
GO:0044790	Process	Suppression of viral release by host	IBA
GO:0044790	Process	Suppression of viral release by host	IDA	18248090
GO:0044790	Process	Suppression of viral release by host	IEA
GO:0045087	Process	Innate immune response	IBA
GO:0045087	Process	Innate immune response	IDA	18248090
GO:0045087	Process	Innate immune response	IEA
GO:0045165	Process	Cell fate commitment	IEA
GO:0045184	Process	Establishment of protein localization	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	7935403, 9448006, 11259576, 22002537
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045930	Process	Negative regulation of mitotic cell cycle	IDA	9395203
GO:0046332	Function	SMAD binding	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IDA	7935403
GO:0048146	Process	Positive regulation of fibroblast proliferation	IEA
GO:0048384	Process	Retinoic acid receptor signaling pathway	IEA
GO:0048511	Process	Rhythmic process	IEA
GO:0050821	Process	Protein stabilization	IDA	12773567
GO:0050897	Function	Cobalt ion binding	IDA	7729428
GO:0051246	Process	Regulation of protein metabolic process	IEA
GO:0051457	Process	Maintenance of protein location in nucleus	IDA	17332504
GO:0051607	Process	Defense response to virus	IEA
GO:0051726	Process	Regulation of cell cycle	IDA	9583681, 12773567
GO:0060058	Process	Positive regulation of apoptotic process involved in mammary gland involution	IDA	11080164
GO:0060090	Function	Molecular adaptor activity	IDA	20719947
GO:0060341	Process	Regulation of cellular localization	IEA
GO:0060395	Process	SMAD protein signal transduction	IEA
GO:0060444	Process	Branching involved in mammary gland duct morphogenesis	IEA
GO:0061659	Function	Ubiquitin-like protein ligase activity	IBA
GO:0065003	Process	Protein-containing complex assembly	IDA	12915590
GO:0065008	Process	Regulation of biological quality	IEA
GO:0070059	Process	Intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IEA
GO:0071353	Process	Cellular response to interleukin-4	IEA
GO:0072332	Process	Intrinsic apoptotic signaling pathway by p53 class mediator	IEA
GO:0090398	Process	Cellular senescence	IDA	22002537, 22117195, 23431171
GO:0090398	Process	Cellular senescence	IEA
GO:0090402	Process	Oncogene-induced cell senescence	IEA
GO:0097191	Process	Extrinsic apoptotic signaling pathway	IEA
GO:1901798	Process	Positive regulation of signal transduction by p53 class mediator	IEA
GO:1904816	Process	Positive regulation of protein localization to chromosome, telomeric region	IDA	22641345
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA
GO:2000059	Process	Negative regulation of ubiquitin-dependent protein catabolic process	IMP	15195100
GO:2000779	Process	Regulation of double-strand break repair	IMP	21639834
GO:2001235	Process	Positive regulation of apoptotic signaling pathway	IEA
GO:2001235	Process	Positive regulation of apoptotic signaling pathway	IEA
GO:2001238	Process	Positive regulation of extrinsic apoptotic signaling pathway	IMP	21803845

MIM	HGNC	e!Ensembl
102578	9113	ENSG00000140464

P29590

Protein name

Protein PML (E3 SUMO-protein ligase PML) (EC 2.3.2.-) (Promyelocytic leukemia protein) (RING finger protein 71) (RING-type E3 SUMO transferase PML) (Tripartite motif-containing protein 19) (TRIM19)

Protein function

Functions via its association with PML-nuclear bodies (PML-NBs) in a wide range of important cellular processes, including tumor suppression, transcriptional regulation, apoptosis, senescence, DNA damage response, and viral defense mechanisms. A

PDB

1BOR , 2MVW , 2MWX , 4WJN , 4WJO , 5YUF , 6IMQ , 6UYO , 6UYP , 6UYQ , 6UYR , 6UYS , 6UYT , 6UYU , 6UYV , 8DJH , 8DJI , 8J25 , 8J2P , 8YTC

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00643	zf-B_box	124 → 166	B-box zinc finger	Domain
PF12126	DUF3583	240 → 570	Protein of unknown function (DUF3583)	Family

Sequence

MEPAPARSPRPQQDPARPQEPTMPPPETPSEGRQPSPSPSPTERAPASEEEFQFLRCQQC
QAEAKCPKLLPCLHTLCSGCLEASGMQCPICQAPWPLGADTPALDNVFFESLQRRLSVYR
QIVDAQAVCTRCKESADFWCFECEQLLCAKCFEAHQWFLKHEARPLAELRNQSVREFLDG
TRKTNNIFCSNPNHRTPTLTSIYCRGCSKPLCCSCALLDSSHSELKCDISAEIQQRQEEL
DAMTQALQEQDSAFGAVHAQMHAAVGQLGRARAETEELIRERVRQVVAHVRAQERELLEA
VDARYQRDYEEMASRLGRLDAVLQRIRTGSALVQRMKCYASDQEVLDMHGFLRQALCRLR
QEEPQSLQAAVRTDGFDEFKVRLQDLSSCITQGKDAAVSKKASPEAASTPRDPIDVDLPE
EAERVKAQVQALGLAEAQPMAVVQSVPGAHPVPVYAFSIKGPSYGEDVSNTTTAQKRKCS
QTQCPRKVIKMESEEGKEARLARSSPEQPRPSTSKAVSPPHLDGPPSPRSPVIGSEVFLP
NSNHVASGAGEAEERVVVISSSEDSDAENSSSRELDDSSSESSDLQLEGPSTLRVLDENL
ADPQAEDRPLVFFDLKIDNETQKISQLAAVNRESKFRVVIQPEAFFSIYSKAVSLEVGLQ
HFLSFLSSMRRPILACYKLWGPGLPNFFRALEDINRLWEFQEAISGFLAALPLIRERVPG
ASSFKLKNLAQTYLARNMSERSAMAAVLAMRDLCRLLEVSPGPQLAQHVYPFSSLQCFAS
LQPLVQAAVLPRAEARLLALHNVSFMELLSAHRRDRQGGLKKYSRYLSLQTTTLPPAQPA
FNLQALGTYFEGLLEGPALARAEGVSTPLAGRGLAERASQQS

Sequence length

882

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Breast ductal adenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLIPIDEMIAS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, PROMYELOCYTIC, ACUTE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PML-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STEVENS-JOHNSON SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (225)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
15q24 Microdeletion	15q24 Microdeletion	BEFREE	22296450		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	7529139		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	10679814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	15820957, 24886876, 8152281, 9372085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	15226186, 22296450		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	20362228, 24449212, 28767575		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	BEFREE	12888896		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	10233384, 10329918, 10339585, 10360373, 10373566, 10498592, 10553155, 10564584, 10597230, 10601023, 10611345, 10627441, 10637504, 10669754, 10673752 View all (475 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	CTD_human_DG	10742073, 14706140, 16788101, 16835227, 16891316, 16935935, 17294898, 17649720, 19029980, 19035177, 19884644, 19887701, 21345080, 21613260, 22213200 View all (5 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	ORPHANET_DG	10942371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute promyelocytic leukemia	Promyelocytic Leukemia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	LHGDN	11891284, 12032336, 12505266, 14630830, 15096541, 16113082, 17960172, 18636556, 19029980, 19100514		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	19322209		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	14970276		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	14970276		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	15820957, 24886876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	28735486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	24009715		★★★★★ ★☆☆☆☆ Found in Text Mining only
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED	alpha-Thalassemia Mental Retardation Syndrome, X-Linked	BEFREE	22240898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating hemiplegia of childhood	Pubtator	21037079, 23260199, 24413054, 24709898, 25259924, 30226859, 31278054	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	26444770	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	33083483	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	17360386	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	10669754	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	16835227		★★★★★ ★☆☆☆☆ Found in Text Mining only
ATRICHIA WITH PAPULAR LESIONS	Atrichia With Papular Lesions	BEFREE	10360373, 10553155, 11704850, 12357343, 1486033, 16504291, 19477514, 21436577, 21544632, 22407853, 24907012, 25258343, 25369030, 26058416, 27468685 View all (10 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	23224965, 8986606, 9089912		★★★★★ ★☆☆☆☆ Found in Text Mining only
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1	Lymphoblastic Leukemia	BEFREE	28654205		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	30931099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	21042751, 31499585		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	1486033, 20133705		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	20133705	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	10637504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	24487962	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	29035352		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	14970276, 15529177, 17822314, 22886304, 27553708, 28239645, 29926514, 30824956, 30927552, 30948704, 31506431, 31570853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18039859, 20180533, 24375252, 26383972, 29114882, 30927552, 31506431, 37518985	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchial Diseases	Bronchial disease	Pubtator	37150829	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	26383972, 31506431, 38066546, 7858248	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	14970276, 22022583		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	36765396	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	11511788, 18609705, 25892518	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of ampulla of Vater	Ampullary Carcinoma	BEFREE	18689862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	21042751, 31499585		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	10699936, 14970276, 16873060, 23563092, 25486572		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	34570619	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33173411	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30244973		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	36778116	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	22136669		★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	22136669	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	14970276		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	23220564		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	23220564		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	15820957, 18665825, 20211010, 24886876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	28735486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	31152142		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	17822315, 19728758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22167334		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32737302	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	10602411, 11929790, 26079545, 8558940		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24821727, 25769384		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	25328121	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	28961770		★★★★★ ★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	12709873		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	29656504, 31691472, 31724253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30112792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse alveolar hemorrhage	Diffuse alveolar hemorrhage	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	15193435		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	LHGDN	18755984		★★★★★ ★☆☆☆☆ Found in Text Mining only
Drug-Induced Stevens Johnson Syndrome	Stevens-Johnson Syndrome	CTD_human_DG	25811541		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	15111320	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epiretinal Membrane	Epiretinal Membrane	BEFREE	23092969		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exfoliation Syndrome	Exfoliation Syndrome	GWASDB_DG	24938310		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	34360546	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi-Bickel Syndrome	Fanconi-Bickel Syndrome	BEFREE	28143738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrinogen Deficiency	Fibrinogen Deficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	24756644		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	18158568	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gangrene	Gangrene	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	25457157	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	14970276		★★★★★ ★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	CTD_human_DG	23440206		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	10576656, 18812519, 28526854, 34208139	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	18812519, 22834637, 27725304		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	CTD_human_DG	23440206		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma Multiforme	Glioblastoma	BEFREE	18812519, 22834637, 27725304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	CTD_human_DG	23440206		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	24487962, 35562901, 38066546	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	BEFREE	29508305		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	36778116	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	36778116	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	9680345	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	37382966	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	14630830		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Encephalopathy	Hepatic Encephalopathy	BEFREE	12430715		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Veno-Occlusive Disease	Hepatic veno-occlusive disease-immunodeficiency syndrome	BEFREE	16648851		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	11511788	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	24009715		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	24009715	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	29307859		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypofibrinogenemia	Hypofibrinogenemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	37518985	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	25369030		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	10233384, 10377280, 10611345, 10688806, 10862710, 11587362, 11743652, 11929790, 12357343, 12515727, 12935958, 14534537, 14566333, 14663483, 15313423 View all (21 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	10233977, 10882117, 11318028, 1372989, 15729358, 18650449, 19451220, 21613260, 24886876, 28740552, 35963522, 37382966, 38066546, 7620182, 7858248, 8514604, 9531570, 9593784, 9716606 View all (4 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	12032831, 12595526, 12647219, 14970191, 15855159, 16307818, 16540467, 16924230, 17419608, 17942542, 18246125, 19023333, 19111660		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	24886876	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	10233384, 10942402, 11552979, 15729358, 16630339, 21738341, 23547873, 23941359, 24886876, 27626703, 28740552, 34047175, 35995769, 36536122, 37925056, 7620182 View all (1 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	10029573, 10233384, 10553155, 10627441, 10669754, 10942370, 10942402, 11050004, 11161223, 11243468, 11301322, 11313457, 11318028, 11378661, 11438209 View all (138 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	19011377	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10329918, 10862710, 10867147, 11154988, 11355922, 11552979, 11896540, 11986951, 12460926, 15024077, 15278297, 15331439, 15385938, 15820957, 16631470 View all (39 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	28961770, 30824956		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	29684791		★★★★★ ★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	18311780		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	19025608	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liposarcoma, Myxoid	liposarcoma	BEFREE	11802205		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17767548, 19141642, 23620081, 25892518, 26118777, 31144474, 8801177, 9849449		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	17767548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	11511788	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	25892518, 29684791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	28332630	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	37150829	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	31790472, 36765396	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	31790472		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	14970276, 28842558		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	14970276		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	14970276		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	29948248		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	24377530	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	14970276, 15529177, 17822314, 22886304, 27553708, 28239645, 29926514, 30824956, 30927552, 30948704, 31506431, 31570853, 31798693		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	24756644		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	10699936, 16873060, 23563092, 25486572		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	23539629, 30244973		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	14715247, 14970276, 23492774, 24339862, 27641331, 27725304, 29335545, 9157977		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29335545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	22022583		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	21042751, 31499585		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10944585, 11355922, 14663483, 17706161, 17822314, 19728758, 22682129, 22906876, 23220564, 24339862, 25369784, 28332630, 29035352, 29114882, 29335436, 29921692, 9164186, 9288109, 9583681 View all (4 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	23220564		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	17822315, 19728758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	18039859, 18298799		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	27553708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	17822315		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	18771349		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	26434590, 33118318	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	29948248		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	15459016	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	22906876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	23518714, 28283109, 29948248		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	30670793		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mycoplasma-Induced Stevens-Johnson Syndrome	Stevens-Johnson Syndrome	CTD_human_DG	25811541		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	11929790, 22714999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	11750052, 15820957, 19291793, 8152281		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	17027752, 21364283		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative Syndrome Transient	Transient myeloproliferative disorder	Pubtator	22296450	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	GWASDB_DG	21211798		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia, Degenerative	Myopia	GWASCAT_DG	23049088		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myxoid/Round Cell Liposarcoma	Myxoid Liposarcoma	BEFREE	11802205		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	18833293, 21305000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	18833293, 21305000, 21605886	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10637504, 10699936, 10867147, 10944585, 11042692, 11832207, 12080044, 12243342, 12506013, 12506025, 12540841, 14500356, 14663483, 14715247, 14970276 View all (66 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	17986232, 27076624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	17986232, 31698611	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	10233977	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30466046		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	30824956		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia Severe Congenital Autosomal Recessive 3	Severe congenital neutropenia	Pubtator	33560392	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17585903, 22406621		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	GWASCAT_DG	21623375		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	CTD_human_DG	21623375		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	GWASDB_DG	21623375		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	36937804	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	17585903, 23566839		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	26429972	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	30244973		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paget Disease	Paget disease	GWASDB_DG	21623375		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	31557059	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	27641331		★★★★★ ★☆☆☆☆ Found in Text Mining only
Penile Neoplasms	Penile neoplasm	Pubtator	28751665	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	23092969		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	11164193		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	8152281, 9372085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	22503841, 7631159, 8131741, 8986606, 9089912, 9230084		★★★★★ ★☆☆☆☆ Found in Text Mining only
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	BEFREE	23092969		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	14715247, 14970276, 23492774, 24339862, 27641331, 27725304, 29335545, 9157977		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	21205865	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	14715247		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21205865, 23492774, 26549027, 29335436	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29335545		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30279207	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	22829758	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	10373566, 18636162, 27468685, 9462740		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	25769384		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	19254269		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10373566, 17360386, 18636162, 19565496, 27468685, 29508305, 9462740		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	17360386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	24453968	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	CTD_human_DG	21822266		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seminoma	Seminoma	BEFREE	24821727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	19058256		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	34741430	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	22302308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	BEFREE	24882209		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	BEFREE	23518714		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	31710088	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	17822314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	19597475, 37542347	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	29684791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stevens-Johnson Syndrome	Stevens-Johnson Syndrome	CTD_human_DG	25811541		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum	Stevens-Johnson Syndrome	CTD_human_DG	25811541		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	22022583		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	19154407, 22013060, 25921172	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26163631	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	CTD_human_DG	25811541		★★★★★ ★☆☆☆☆ Found in Text Mining only
Treatment related secondary malignancy	Treatment Related Secondary Malignancy	CTD_human_DG	19884644		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28239645, 31570853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	37823593, 40595914	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PML (PML nuclear body scaffold)