NPM1 (nucleophosmin 1)

Gene

• Entrez ID: 4869
• Gene name: Nucleophosmin 1
• Gene symbol: NPM1
• Synonyms (NCBI Gene): B23, NPM
• Chromosome: 5
• Chromosome location: 5q35.1
• Summary: The protein encoded by this gene is involved in several cellular processes, including centrosome duplication, protein chaperoning, and cell proliferation. The encoded phosphoprotein shuttles between the nucleolus, nucleus, and cytoplasm, chaperoning ribos

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587776806	->TCTG	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs1057519744	->CATG,CCTG,TCAG,TCTG	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1554138188	->CATG,CGTG	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1554138189	->CCTG	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1561878500	GGAGGAA>CCCTGGCTAGG	Pathogenic	Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1581263026	GCAGTGGAGG>TTTAAGGATTCGTC	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT050209	hsa-miR-25-3p	CLASH	23622248
MIRT049162	hsa-miR-92a-3p	CLASH	23622248
MIRT049162	hsa-miR-92a-3p	CLASH	23622248
MIRT048875	hsa-miR-93-5p	CLASH	23622248
MIRT046385	hsa-miR-15b-5p	CLASH	23622248
MIRT046377	hsa-miR-23b-3p	CLASH	23622248
MIRT045923	hsa-miR-125b-5p	CLASH	23622248
MIRT045754	hsa-miR-125a-5p	CLASH	23622248
MIRT045680	hsa-miR-149-5p	CLASH	23622248
MIRT044729	hsa-miR-320a	CLASH	23622248
MIRT041488	hsa-miR-193b-3p	CLASH	23622248
MIRT040565	hsa-miR-92b-3p	CLASH	23622248
MIRT040565	hsa-miR-92b-3p	CLASH	23622248
MIRT040495	hsa-miR-598-3p	CLASH	23622248
MIRT039598	hsa-miR-625-5p	CLASH	23622248
MIRT039386	hsa-miR-421	CLASH	23622248
MIRT038792	hsa-miR-93-3p	CLASH	23622248
MIRT038406	hsa-miR-296-3p	CLASH	23622248
MIRT215234	hsa-miR-4428	PAR-CLIP	21572407
MIRT503915	hsa-miR-3173-3p	PAR-CLIP	21572407
MIRT503914	hsa-miR-6891-5p	PAR-CLIP	21572407
MIRT215233	hsa-miR-646	PAR-CLIP	21572407
MIRT215237	hsa-miR-6888-5p	PAR-CLIP	21572407
MIRT358339	hsa-miR-4461	PAR-CLIP	21572407
MIRT215235	hsa-miR-4521	PAR-CLIP	21572407
MIRT503913	hsa-miR-4468	PAR-CLIP	21572407
MIRT312880	hsa-miR-520d-5p	PAR-CLIP	21572407
MIRT312879	hsa-miR-524-5p	PAR-CLIP	21572407
MIRT503912	hsa-miR-3671	PAR-CLIP	21572407
MIRT503911	hsa-miR-607	PAR-CLIP	21572407
MIRT312881	hsa-miR-4484	PAR-CLIP	23446348
MIRT215234	hsa-miR-4428	PAR-CLIP	23446348
MIRT503915	hsa-miR-3173-3p	PAR-CLIP	23446348
MIRT503914	hsa-miR-6891-5p	PAR-CLIP	23446348
MIRT215233	hsa-miR-646	PAR-CLIP	23446348
MIRT215237	hsa-miR-6888-5p	PAR-CLIP	23446348
MIRT522216	hsa-miR-586	PAR-CLIP	23446348
MIRT358339	hsa-miR-4461	PAR-CLIP	23446348
MIRT215235	hsa-miR-4521	PAR-CLIP	23446348
MIRT503913	hsa-miR-4468	PAR-CLIP	23446348
MIRT312883	hsa-miR-8053	PAR-CLIP	23446348
MIRT312880	hsa-miR-520d-5p	PAR-CLIP	23446348
MIRT312879	hsa-miR-524-5p	PAR-CLIP	23446348
MIRT503912	hsa-miR-3671	PAR-CLIP	23446348
MIRT503911	hsa-miR-607	PAR-CLIP	23446348
MIRT215234	hsa-miR-4428	PAR-CLIP	23446348
MIRT503915	hsa-miR-3173-3p	PAR-CLIP	23446348
MIRT503914	hsa-miR-6891-5p	PAR-CLIP	23446348
MIRT215233	hsa-miR-646	PAR-CLIP	23446348
MIRT215237	hsa-miR-6888-5p	PAR-CLIP	23446348
MIRT358339	hsa-miR-4461	PAR-CLIP	23446348
MIRT215235	hsa-miR-4521	PAR-CLIP	23446348
MIRT503913	hsa-miR-4468	PAR-CLIP	23446348
MIRT312880	hsa-miR-520d-5p	PAR-CLIP	23446348
MIRT312879	hsa-miR-524-5p	PAR-CLIP	23446348
MIRT503912	hsa-miR-3671	PAR-CLIP	23446348
MIRT215234	hsa-miR-4428	PAR-CLIP	23446348
MIRT503915	hsa-miR-3173-3p	PAR-CLIP	23446348
MIRT503914	hsa-miR-6891-5p	PAR-CLIP	23446348
MIRT215233	hsa-miR-646	PAR-CLIP	23446348
MIRT215237	hsa-miR-6888-5p	PAR-CLIP	23446348
MIRT358339	hsa-miR-4461	PAR-CLIP	23446348
MIRT215235	hsa-miR-4521	PAR-CLIP	23446348
MIRT503913	hsa-miR-4468	PAR-CLIP	23446348
MIRT312880	hsa-miR-520d-5p	PAR-CLIP	23446348
MIRT312879	hsa-miR-524-5p	PAR-CLIP	23446348
MIRT503912	hsa-miR-3671	PAR-CLIP	23446348
MIRT503911	hsa-miR-607	PAR-CLIP	23446348
MIRT358337	hsa-miR-3121-3p	PAR-CLIP	23592263
MIRT472025	hsa-miR-8087	PAR-CLIP	23592263
MIRT472026	hsa-miR-5197-3p	PAR-CLIP	23592263
MIRT472024	hsa-miR-2115-3p	PAR-CLIP	23592263
MIRT358370	hsa-miR-5186	PAR-CLIP	23592263
MIRT358338	hsa-miR-4450	PAR-CLIP	23592263
MIRT215234	hsa-miR-4428	PAR-CLIP	21572407
MIRT503915	hsa-miR-3173-3p	PAR-CLIP	21572407
MIRT503914	hsa-miR-6891-5p	PAR-CLIP	21572407
MIRT215233	hsa-miR-646	PAR-CLIP	21572407
MIRT215237	hsa-miR-6888-5p	PAR-CLIP	21572407
MIRT358339	hsa-miR-4461	PAR-CLIP	21572407
MIRT215235	hsa-miR-4521	PAR-CLIP	21572407
MIRT503913	hsa-miR-4468	PAR-CLIP	21572407
MIRT312880	hsa-miR-520d-5p	PAR-CLIP	21572407
MIRT312879	hsa-miR-524-5p	PAR-CLIP	21572407
MIRT503912	hsa-miR-3671	PAR-CLIP	21572407
MIRT503911	hsa-miR-607	PAR-CLIP	21572407
MIRT312881	hsa-miR-4484	PAR-CLIP	23446348
MIRT215234	hsa-miR-4428	PAR-CLIP	23446348
MIRT503915	hsa-miR-3173-3p	PAR-CLIP	23446348
MIRT503914	hsa-miR-6891-5p	PAR-CLIP	23446348
MIRT215233	hsa-miR-646	PAR-CLIP	23446348
MIRT215237	hsa-miR-6888-5p	PAR-CLIP	23446348
MIRT522216	hsa-miR-586	PAR-CLIP	23446348
MIRT358339	hsa-miR-4461	PAR-CLIP	23446348
MIRT215235	hsa-miR-4521	PAR-CLIP	23446348
MIRT503913	hsa-miR-4468	PAR-CLIP	23446348
MIRT312883	hsa-miR-8053	PAR-CLIP	23446348
MIRT312880	hsa-miR-520d-5p	PAR-CLIP	23446348
MIRT312879	hsa-miR-524-5p	PAR-CLIP	23446348
MIRT503912	hsa-miR-3671	PAR-CLIP	23446348
MIRT503911	hsa-miR-607	PAR-CLIP	23446348
MIRT215234	hsa-miR-4428	PAR-CLIP	23446348
MIRT503915	hsa-miR-3173-3p	PAR-CLIP	23446348
MIRT503914	hsa-miR-6891-5p	PAR-CLIP	23446348
MIRT215233	hsa-miR-646	PAR-CLIP	23446348
MIRT215237	hsa-miR-6888-5p	PAR-CLIP	23446348
MIRT358339	hsa-miR-4461	PAR-CLIP	23446348
MIRT215235	hsa-miR-4521	PAR-CLIP	23446348
MIRT503913	hsa-miR-4468	PAR-CLIP	23446348
MIRT312880	hsa-miR-520d-5p	PAR-CLIP	23446348
MIRT312879	hsa-miR-524-5p	PAR-CLIP	23446348
MIRT503912	hsa-miR-3671	PAR-CLIP	23446348
MIRT215234	hsa-miR-4428	PAR-CLIP	23446348
MIRT503915	hsa-miR-3173-3p	PAR-CLIP	23446348
MIRT503914	hsa-miR-6891-5p	PAR-CLIP	23446348
MIRT215233	hsa-miR-646	PAR-CLIP	23446348
MIRT215237	hsa-miR-6888-5p	PAR-CLIP	23446348
MIRT358339	hsa-miR-4461	PAR-CLIP	23446348
MIRT215235	hsa-miR-4521	PAR-CLIP	23446348
MIRT503913	hsa-miR-4468	PAR-CLIP	23446348
MIRT312880	hsa-miR-520d-5p	PAR-CLIP	23446348
MIRT312879	hsa-miR-524-5p	PAR-CLIP	23446348
MIRT503912	hsa-miR-3671	PAR-CLIP	23446348
MIRT503911	hsa-miR-607	PAR-CLIP	23446348
MIRT358337	hsa-miR-3121-3p	PAR-CLIP	23592263
MIRT472025	hsa-miR-8087	PAR-CLIP	23592263
MIRT472026	hsa-miR-5197-3p	PAR-CLIP	23592263
MIRT472024	hsa-miR-2115-3p	PAR-CLIP	23592263
MIRT358370	hsa-miR-5186	PAR-CLIP	23592263
MIRT358338	hsa-miR-4450	PAR-CLIP	23592263
MIRT1191017	hsa-miR-1229	CLIP-seq
MIRT1191018	hsa-miR-182	CLIP-seq
MIRT1191019	hsa-miR-200b	CLIP-seq
MIRT1191020	hsa-miR-200c	CLIP-seq
MIRT1191021	hsa-miR-208a	CLIP-seq
MIRT1191022	hsa-miR-208b	CLIP-seq
MIRT1191023	hsa-miR-23a	CLIP-seq
MIRT1191024	hsa-miR-23b	CLIP-seq
MIRT1191025	hsa-miR-23c	CLIP-seq
MIRT1191026	hsa-miR-3143	CLIP-seq
MIRT1191027	hsa-miR-3153	CLIP-seq
MIRT1191028	hsa-miR-3163	CLIP-seq
MIRT1191029	hsa-miR-340	CLIP-seq
MIRT1191030	hsa-miR-3646	CLIP-seq
MIRT1191031	hsa-miR-3647-3p	CLIP-seq
MIRT1191032	hsa-miR-3690	CLIP-seq
MIRT1191033	hsa-miR-4256	CLIP-seq
MIRT1191034	hsa-miR-4282	CLIP-seq
MIRT1191035	hsa-miR-4286	CLIP-seq
MIRT1191036	hsa-miR-429	CLIP-seq
MIRT1191037	hsa-miR-4477a	CLIP-seq
MIRT1191038	hsa-miR-4520a-3p	CLIP-seq
MIRT1191039	hsa-miR-4520b-3p	CLIP-seq
MIRT1191040	hsa-miR-4528	CLIP-seq
MIRT1191041	hsa-miR-4529-3p	CLIP-seq
MIRT1191042	hsa-miR-4638-3p	CLIP-seq
MIRT1191043	hsa-miR-4639-3p	CLIP-seq
MIRT1191044	hsa-miR-4682	CLIP-seq
MIRT1191045	hsa-miR-4716-5p	CLIP-seq
MIRT1191046	hsa-miR-4717-3p	CLIP-seq
MIRT1191047	hsa-miR-4729	CLIP-seq
MIRT1191048	hsa-miR-487a	CLIP-seq
MIRT1191049	hsa-miR-490-3p	CLIP-seq
MIRT1191050	hsa-miR-495	CLIP-seq
MIRT1191051	hsa-miR-543	CLIP-seq
MIRT1191052	hsa-miR-548ac	CLIP-seq
MIRT1191053	hsa-miR-548ae	CLIP-seq
MIRT1191054	hsa-miR-548aj	CLIP-seq
MIRT1191055	hsa-miR-548am	CLIP-seq
MIRT1191056	hsa-miR-548d-3p	CLIP-seq
MIRT1191057	hsa-miR-548x	CLIP-seq
MIRT1191058	hsa-miR-548z	CLIP-seq
MIRT1191059	hsa-miR-587	CLIP-seq
MIRT1191060	hsa-miR-619	CLIP-seq
MIRT1191061	hsa-miR-654-3p	CLIP-seq
MIRT1191062	hsa-miR-676	CLIP-seq
MIRT1191028	hsa-miR-3163	CLIP-seq
MIRT1191029	hsa-miR-340	CLIP-seq
MIRT1191040	hsa-miR-4528	CLIP-seq
MIRT1191059	hsa-miR-587	CLIP-seq
MIRT2055340	hsa-miR-142-3p	CLIP-seq
MIRT2055341	hsa-miR-1587	CLIP-seq
MIRT2055342	hsa-miR-3117-5p	CLIP-seq
MIRT2055343	hsa-miR-371-3p	CLIP-seq
MIRT2055344	hsa-miR-371b-3p	CLIP-seq
MIRT2055345	hsa-miR-4666-5p	CLIP-seq
MIRT2055346	hsa-miR-4674	CLIP-seq
MIRT2055347	hsa-miR-4713-5p	CLIP-seq
MIRT2055348	hsa-miR-4775	CLIP-seq
MIRT2055349	hsa-miR-4797-3p	CLIP-seq
MIRT2055350	hsa-miR-515-3p	CLIP-seq
MIRT2055351	hsa-miR-519e	CLIP-seq
MIRT2055352	hsa-miR-593	CLIP-seq
MIRT2055353	hsa-miR-9	CLIP-seq
MIRT2055340	hsa-miR-142-3p	CLIP-seq
MIRT2055341	hsa-miR-1587	CLIP-seq
MIRT2055342	hsa-miR-3117-5p	CLIP-seq
MIRT2055343	hsa-miR-371-3p	CLIP-seq
MIRT2055344	hsa-miR-371b-3p	CLIP-seq
MIRT2055345	hsa-miR-4666-5p	CLIP-seq
MIRT2055346	hsa-miR-4674	CLIP-seq
MIRT2055347	hsa-miR-4713-5p	CLIP-seq
MIRT2055348	hsa-miR-4775	CLIP-seq
MIRT2055349	hsa-miR-4797-3p	CLIP-seq
MIRT2055350	hsa-miR-515-3p	CLIP-seq
MIRT2055351	hsa-miR-519e	CLIP-seq
MIRT2055352	hsa-miR-593	CLIP-seq
MIRT2055353	hsa-miR-9	CLIP-seq
MIRT1191059	hsa-miR-587	CLIP-seq
MIRT1191017	hsa-miR-1229	CLIP-seq
MIRT1191018	hsa-miR-182	CLIP-seq
MIRT1191027	hsa-miR-3153	CLIP-seq
MIRT1191028	hsa-miR-3163	CLIP-seq
MIRT1191029	hsa-miR-340	CLIP-seq
MIRT1191032	hsa-miR-3690	CLIP-seq
MIRT1191033	hsa-miR-4256	CLIP-seq
MIRT1191035	hsa-miR-4286	CLIP-seq
MIRT1191038	hsa-miR-4520a-3p	CLIP-seq
MIRT1191039	hsa-miR-4520b-3p	CLIP-seq
MIRT1191040	hsa-miR-4528	CLIP-seq
MIRT1191041	hsa-miR-4529-3p	CLIP-seq
MIRT1191042	hsa-miR-4638-3p	CLIP-seq
MIRT1191043	hsa-miR-4639-3p	CLIP-seq
MIRT1191045	hsa-miR-4716-5p	CLIP-seq
MIRT1191049	hsa-miR-490-3p	CLIP-seq
MIRT1191059	hsa-miR-587	CLIP-seq
MIRT1191060	hsa-miR-619	CLIP-seq
MIRT1191061	hsa-miR-654-3p	CLIP-seq
MIRT1191059	hsa-miR-587	CLIP-seq
MIRT1191059	hsa-miR-587	CLIP-seq
MIRT2055340	hsa-miR-142-3p	CLIP-seq
MIRT2055341	hsa-miR-1587	CLIP-seq
MIRT2055342	hsa-miR-3117-5p	CLIP-seq
MIRT2055343	hsa-miR-371-3p	CLIP-seq
MIRT2055344	hsa-miR-371b-3p	CLIP-seq
MIRT2055345	hsa-miR-4666-5p	CLIP-seq
MIRT2055346	hsa-miR-4674	CLIP-seq
MIRT2055347	hsa-miR-4713-5p	CLIP-seq
MIRT2055348	hsa-miR-4775	CLIP-seq
MIRT2055349	hsa-miR-4797-3p	CLIP-seq
MIRT2055350	hsa-miR-515-3p	CLIP-seq
MIRT2055351	hsa-miR-519e	CLIP-seq
MIRT2055352	hsa-miR-593	CLIP-seq
MIRT2055353	hsa-miR-9	CLIP-seq
MIRT2055340	hsa-miR-142-3p	CLIP-seq
MIRT2055341	hsa-miR-1587	CLIP-seq
MIRT2055342	hsa-miR-3117-5p	CLIP-seq
MIRT2055343	hsa-miR-371-3p	CLIP-seq
MIRT2055344	hsa-miR-371b-3p	CLIP-seq
MIRT2055345	hsa-miR-4666-5p	CLIP-seq
MIRT2055346	hsa-miR-4674	CLIP-seq
MIRT2055347	hsa-miR-4713-5p	CLIP-seq
MIRT2055348	hsa-miR-4775	CLIP-seq
MIRT2055349	hsa-miR-4797-3p	CLIP-seq
MIRT2055350	hsa-miR-515-3p	CLIP-seq
MIRT2055351	hsa-miR-519e	CLIP-seq
MIRT2055352	hsa-miR-593	CLIP-seq
MIRT2055353	hsa-miR-9	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000055	Process	Ribosomal large subunit export from nucleus	IBA
GO:0000055	Process	Ribosomal large subunit export from nucleus	IEA
GO:0000056	Process	Ribosomal small subunit export from nucleus	IBA
GO:0000056	Process	Ribosomal small subunit export from nucleus	IEA
GO:0001046	Function	Core promoter sequence-specific DNA binding	IDA	19160485
GO:0001558	Process	Regulation of cell growth	IEA
GO:0001652	Component	Granular component	IEA
GO:0001652	Component	Granular component	TAS
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003682	Function	Chromatin binding	IBA
GO:0003713	Function	Transcription coactivator activity	IDA	15087454, 19160485
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IBA
GO:0003723	Function	RNA binding	IDA	12058066
GO:0003723	Function	RNA binding	IEA
GO:0004860	Function	Protein kinase inhibitor activity	IDA	12882984
GO:0005515	Function	Protein binding	IPI	12080348, 12882984, 15144954, 15161933, 15184379, 15989956, 16376884, 16540653, 16648475, 16957780, 17015463, 17318229, 17438371, 17475909, 17535915, 17602943, 18243139, 18259216, 18420587, 19160485, 19188445, 19410545, 20075868, 20080577, 20159986, 20208519, 20618440, 20701745, 213
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IDA	38231884
GO:0005634	Component	Nucleus	IDA	12080348, 22720776
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IBA
GO:0005654	Component	Nucleoplasm	IDA	12058066, 19160485
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IBA
GO:0005730	Component	Nucleolus	IDA	11420665, 12080348, 16041368, 17475909, 18809582, 19160485, 19188445, 19208757, 22528486, 25956029
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	9121481
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	11051553
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006281	Process	DNA repair	IDA	19188445
GO:0006334	Process	Nucleosome assembly	IDA	11602260
GO:0006338	Process	Chromatin remodeling	IBA
GO:0006606	Process	Protein import into nucleus	IDA	38231884
GO:0006884	Process	Cell volume homeostasis	IEA
GO:0006886	Process	Intracellular protein transport	TAS	12080348
GO:0006913	Process	Nucleocytoplasmic transport	IDA	16041368
GO:0006913	Process	Nucleocytoplasmic transport	IEA
GO:0006913	Process	Nucleocytoplasmic transport	TAS	12080348
GO:0007098	Process	Centrosome cycle	IMP	11051553
GO:0007165	Process	Signal transduction	NAS	16130169
GO:0008104	Process	Intracellular protein localization	IDA	18420587
GO:0008104	Process	Intracellular protein localization	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	22528486
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IMP	12080348
GO:0009891	Process	Positive regulation of biosynthetic process	IEA
GO:0010604	Process	Positive regulation of macromolecule metabolic process	IEA
GO:0010608	Process	Post-transcriptional regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010824	Process	Regulation of centrosome duplication	IBA
GO:0010824	Process	Regulation of centrosome duplication	IEA
GO:0010825	Process	Positive regulation of centrosome duplication	IEA
GO:0010826	Process	Negative regulation of centrosome duplication	IMP	16041368
GO:0015934	Component	Large ribosomal subunit	IEA
GO:0015935	Component	Small ribosomal subunit	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016607	Component	Nuclear speck	IEA
GO:0019843	Function	RRNA binding	IEA
GO:0019843	Function	RRNA binding	IPI	24106084
GO:0019901	Function	Protein kinase binding	IPI	20352051
GO:0030225	Process	Macrophage differentiation	IDA	38231884
GO:0030225	Process	Macrophage differentiation	IDA	38231884
GO:0030957	Function	Tat protein binding	IDA	9094689
GO:0031398	Process	Positive regulation of protein ubiquitination	IEA
GO:0031616	Component	Spindle pole centrosome	IDA	16041368
GO:0031647	Process	Regulation of protein stability	IEA
GO:0032071	Process	Regulation of endodeoxyribonuclease activity	IDA	19188445
GO:0032991	Component	Protein-containing complex	IDA	19160485
GO:0032993	Component	Protein-DNA complex	IDA	19160485
GO:0034644	Process	Cellular response to UV	IDA	19160485
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042254	Process	Ribosome biogenesis	IEA
GO:0042255	Process	Ribosome assembly	TAS	12080348
GO:0042273	Process	Ribosomal large subunit biogenesis	IBA
GO:0042273	Process	Ribosomal large subunit biogenesis	IEA
GO:0042274	Process	Ribosomal small subunit biogenesis	IBA
GO:0042274	Process	Ribosomal small subunit biogenesis	IEA
GO:0042393	Function	Histone binding	IBA
GO:0042393	Function	Histone binding	IDA	11602260
GO:0042802	Function	Identical protein binding	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	9121481
GO:0042803	Function	Protein homodimerization activity	IPI	24106084
GO:0043023	Function	Ribosomal large subunit binding	IDA	18809582
GO:0043024	Function	Ribosomal small subunit binding	IDA	18809582
GO:0043066	Process	Negative regulation of apoptotic process	IDA	12882984
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	NAS	16130169
GO:0043516	Process	Regulation of DNA damage response, signal transduction by p53 class mediator	IEA
GO:0044387	Process	Negative regulation of protein kinase activity by regulation of protein phosphorylation	IDA	12882984
GO:0045727	Process	Positive regulation of translation	IDA	12882984
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	22528486
GO:0045935	Process	Positive regulation of nucleobase-containing compound metabolic process	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	19160485
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	25956029
GO:0046599	Process	Regulation of centriole replication	IMP	20352051
GO:0048025	Process	Negative regulation of mRNA splicing, via spliceosome	IEA
GO:0050821	Process	Protein stabilization	IEA
GO:0051059	Function	NF-kappaB binding	IDA	15087454
GO:0051082	Function	Unfolded protein binding	IDA	10211837
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IMP	15087454
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0060090	Function	Molecular adaptor activity	IDA	38231884
GO:0060699	Process	Regulation of endoribonuclease activity	IDA	19188445
GO:0060735	Process	Regulation of eIF2 alpha phosphorylation by dsRNA	IDA	12882984
GO:0090398	Process	Cellular senescence	IMP	12080348
GO:0140297	Function	DNA-binding transcription factor binding	IPI	19160485
GO:1902629	Process	Regulation of mRNA stability involved in cellular response to UV	IMP	12080348
GO:1902751	Process	Positive regulation of cell cycle G2/M phase transition	IDA	22528486
GO:1904751	Process	Positive regulation of protein localization to nucleolus	IEA
GO:1990904	Component	Ribonucleoprotein complex	IBA
GO:1990904	Component	Ribonucleoprotein complex	IDA	18809582

Other IDs

• MIM: 164040
• HGNC: 7910
• e!Ensembl: ENSG00000181163

Protein

• UniProt ID: P06748
• Protein name: Nucleophosmin (NPM) (Nucleolar phosphoprotein B23) (Nucleolar protein NO38) (Numatrin)
• Protein function: Involved in diverse cellular processes such as ribosome biogenesis, centrosome duplication, protein chaperoning, histone assembly, cell proliferation, and regulation of tumor suppressors p53/TP53 and ARF. Binds ribosome presumably to drive ribos
• PDB: 2LLH, 2P1B, 2VXD, 5EHD, 7OBG, 7OBH, 8AH2, 8AS5
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03066	Nucleoplasmin	18 → 117	Nucleoplasmin/nucleophosmin domain	Domain
  PF16276	NPM1-C	245 → 293	Nucleophosmin C-terminal domain	Domain

• Sequence:

  MEDSMDMDMSPLRPQNYLFGCELKADKDYHFKVDNDENEHQLSLRTVSLGAGAKDELHIV
  EAEAMNYEGSPIKVTLATLKMSVQPTVSLGGFEITPPVVLRLKCGSGPVHISGQHLVAVE
  EDAESEDEEEEDVKLLSISGKRSAPGGGSKVPQKKVKLAADEDDDDDDEEDDDEDDDDDD
  FDDEEAEEKAPVKKSIRDTPAKNAQKSNQNGKDSKPSSTPRSKGQESFKKQEKTPKTPKG
  PSSVEDIKAKMQASIEKGGSLPKVEAKFINYVKNCFRMTDQEAIQDLWQWRKSL

• Sequence length: 294

Pathways

Reactome:

Nuclear import of Rev protein
SUMOylation of transcription cofactors
Deposition of new CENPA-containing nucleosomes at the centromere
TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain
TFAP2A acts as a transcriptional repressor during retinoic acid induced cell differentiation

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Acute myeloid leukemia	Pathogenic	rs2113301391, rs2113301331, rs587776806, rs1554138188, rs1554138189, rs1561878500	RCV002277721 RCV002277742 RCV000015035 RCV000015036 RCV000015037 RCV000015038 RCV000779592	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Acute myeloid leukemia with multilineage dysplasia	Pathogenic	rs1581263026	RCV000999466	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acute myeloid leukemia with NPM1 somatic mutations	Pathogenic	rs1554138189	RCV006253623	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myelodysplastic syndrome progressed to acute myeloid leukemia	Pathogenic	rs587776806	RCV000203461	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NPM1-related disorder	Pathogenic	rs587776806	RCV004754261	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BONE MARROW FAILURE SYNDROME	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSKERATOSIS CONGENITA	—	CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, ACUTE MYELOID	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, PROMYELOCYTIC, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CUTANEOUS ANAPLASTIC LARGE CELL LYMPHOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
5q-syndrome	5q-syndrome	BEFREE	20877721		★☆☆☆☆ Found in Text Mining only
Abetalipoproteinemia	Abetalipoproteinemia	BEFREE	17392503		★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	20357826		★☆☆☆☆ Found in Text Mining only
Acute erythroleukemia	Erythroleukemia	CTD_human_DG	30926971		★☆☆☆☆ Found in Text Mining only
Acute erythroleukemia - M6a subtype	Erythroleukemia	CTD_human_DG	30926971		★☆☆☆☆ Found in Text Mining only
Acute erythroleukemia - M6b subtype	Erythroleukemia	CTD_human_DG	30926971		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	26997274, 27258906, 30126426		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	18641025, 23465275, 30126426		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	15659725, 16046528, 16455950, 16541144, 16720834, 17440048, 17597811, 18450602, 18726096, 19484332, 19557552, 19587375, 19593743, 20001230, 20203266, 20357826, 20360144, 20542566, 20805365, 20872983, 20875872, 20877721, 20979630, 21233837, 21338238, 21689158, 22035378, 22766221, 23238897, 23591014, 24666762, 24927407, 25026287, 25299584, 25547501, 25592059, 26091065, 26666953, 26997274, 27374703, 27643573, 27698101, 27748301, 27798920, 27864740, 28111462, 28384310, 29274134, 29417354, 29423110, 29441887, 29684564, 30068244, 30130654, 30205049, 30692594, 31650162		★☆☆☆☆ Found in Text Mining only
Acute myeloblastic leukemia with maturation	Myeloblastic Leukemia With Maturation	Orphanet			★☆☆☆☆ Found in Text Mining only
Acute myeloblastic leukemia without maturation	Myeloblastic Leukemia Without Maturation	Orphanet			★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG	19822134, 21441929, 23877794, 27992414, 30420649		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	ORPHANET_DG	22338050		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	BEFREE	22494415		★☆☆☆☆ Found in Text Mining only
Acute myeloid leukemia FAB-M6	Myeloid Leukemia	CTD_human_DG	30926971		★☆☆☆☆ Found in Text Mining only
Acute myeloid leukemia with NPM1 somatic mutations	Myeloid Leukemia With NPM1 Somatic Mutations	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG	19822134, 21441929, 23877794, 27992414, 30420649		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	ORPHANET_DG	22338050		★☆☆☆☆ Found in Text Mining only
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	19365794, 25241285, 29491461		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	10339585, 10753851, 12127726, 12642121, 16331271, 16504291, 16984370, 17988991, 20405253, 21527803, 21812014, 23927396, 25033841, 25800051, 26342691, 26754533, 26997274, 29254789, 29310020, 30996344, 31707416, 8562957, 8952164, 9256429, 9881708, 9989813		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	CTD_human_DG	14508522, 26285909		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Acute promyelocytic leukemia	Promyelocytic Leukemia	Orphanet			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	27602772		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	23536448, 8778315		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	36793283	Associate	★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	16109776, 16455950, 16455956, 16541144, 16720834, 17008539, 17440048, 17597811, 18308931, 18726096, 19484332, 19557552, 19943049, 20872983, 21744003, 24035716, 26666953, 27436336, 27460089		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	16140928		★☆☆☆☆ Found in Text Mining only
ALK positive large B-cell lymphoma	B-cell Lymphoma	BEFREE	18755494		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	26512942	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	31365788		★☆☆☆☆ Found in Text Mining only
Anaplastic Large Cell Lymphoma, ALK-Positive	Anaplastic Lymphoma	BEFREE	10552961, 12181047, 16709933, 17392503, 17464320, 17560012, 17720243, 18755494, 20393185, 20451371, 21703420, 22907048, 23153582, 24509625, 25421750, 25921060, 26133723, 30742941, 31390744, 31428523		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	36959701	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	26123729	Associate	★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	15589822	Inhibit	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	35751199	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	20533335, 25907517, 26559910		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	16170336	Associate	★☆☆☆☆ Found in Text Mining only
ATRICHIA WITH PAPULAR LESIONS	Atrichia With Papular Lesions	BEFREE	16504291, 20405253, 25033841		★☆☆☆☆ Found in Text Mining only
Atypical Teratoid Rhabdoid Tumor	Teratoid Rhabdoid Tumor	BEFREE	31462227		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	25779011	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	12816858, 14586401, 20207848, 20223922, 9684923, 9886332		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	15491744, 17920239, 18298902		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	21233837, 25961029		★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	35185048	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	20533335		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10030688, 27211281, 28562134, 30613163		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21689627, 21738817, 23062075, 32236595, 34327780	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	16170336, 27959455	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	16766651, 17245342, 18480108, 19581289, 21204709, 24410879, 25490769	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	17504301, 8778315		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	17245342	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25490769, 25779011, 26536659, 27831650, 28596685, 28874807, 38097352	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	15491744, 17920239, 18298902		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35142956	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37515929	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	18480108, 36780540	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	25818168		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	25818168		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	15870172, 16109776, 16455956, 17440048, 17597811, 19020547, 19557552, 19943049, 20001230, 20979630, 21967978, 22126574, 29432313		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	14557598, 19961478, 28321119		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	16870548, 21233837, 22348345, 23226219, 30692594		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	22631075		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	34201061	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23536448, 24716928		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20027629, 22631075, 24716928, 28675510, 34201061, 34639107	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	16540685, 18273044, 19429869, 20877721, 21030560, 21177505, 22096250, 22844482, 23511494, 27140599, 29360622, 30466744, 9561912, 9885226		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	31881747	Associate	★☆☆☆☆ Found in Text Mining only
Cutaneous Mastocytosis	Cutaneous mastocytosis	BEFREE	19052694		★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic Neutropenia	BEFREE	30701458		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	29504608		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30799086		★☆☆☆☆ Found in Text Mining only
Diffuse alveolar hemorrhage	Diffuse alveolar hemorrhage	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	LHGDN	14563642		★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	24962064		★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis Congenita	BEFREE	31570891		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskeratosis Congenita	Dyskeratosis Congenita	GENOMICS_ENGLAND_DG	31570891		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskeratosis Congenita	Dyskeratosis Congenita	CTD_human_DG	31570891		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskeratosis congenita	Dyskeratosis Congenita	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eczema	Eczema	BEFREE	29504608		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	22926011, 27527851, 29466670, 31330844		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	37610103	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	36942988	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	23483572		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	12882984, 15964625, 20864535		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	LHGDN	12882984		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	12882984	Associate	★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	12882984, 15964625, 20864535		★☆☆☆☆ Found in Text Mining only
Fibrinogen Deficiency	Fibrinogen Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	30050143, 31136977		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	37142981	Associate	★☆☆☆☆ Found in Text Mining only
Gangrene	Gangrene	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	Pubtator	24410879	Associate	★☆☆☆☆ Found in Text Mining only
Genetic Predisposition to Disease	Genetic predisposition to disease	Pubtator	20858903, 38126102	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	22745010, 26559910, 28770964		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	26108672, 38286983	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	16320026, 22745010, 26559910, 28770964		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	26559910		★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	26351297		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	38273254	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	26508204		★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	20981679, 21689627, 36959701	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	16984370, 17488663, 18212245, 21709672, 23065518, 23436734, 23536448, 27106701, 28513872, 9665204		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	23065518	Inhibit	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	30577887, 35621629	Associate	★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	24289551		★☆☆☆☆ Found in Text Mining only
Hemophilia B	Hemophilia b	Pubtator	35185048	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	10619186		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	16101126, 16140928, 22249260, 28771164, 7742546, 8187071, 8683377, 9376569		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	34164626, 7742546, 8701985	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	27865970		★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	14730621	Associate	★☆☆☆☆ Found in Text Mining only
Hypofibrinogenemia	Hypofibrinogenemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	15310764	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	34335635, 34388291	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	24404580, 29289827		★☆☆☆☆ Found in Text Mining only
Inflammatory Myofibroblastic Tumor	Inflammatory Myofibroblastic Tumor	BEFREE	16651537		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	25809997		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	18454140, 20333249		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	10216106, 10381534, 10398126, 10555007, 10556217, 10702393, 10706887, 10725869, 10994999, 11110708, 11215285, 11395396, 11494142, 11522649, 11532349, 11801565, 11957137, 12112524, 12115586, 12213716, 12644020, 14563642, 14569815, 14586401, 14656879, 14962911, 15093542, 15184887, 15208656, 15297972, 15588951, 15902287, 15972965, 16049513, 16140928, 16189272, 16469875, 16533741, 16651537, 16825495, 16835382, 16954669, 16982741, 16984370, 17110082, 17111047, 17320171, 17392503, 17416736, 17464320, 17483340, 17537995, 17560012, 17610208, 17611412, 17612934, 17690253, 17694547, 17695725, 17720243, 18501703, 19358142, 19423729, 19459784, 19531656, 19545284, 19887607, 20159827, 20554525, 20699364, 21343335, 21423761, 21471522, 21502284, 21575866, 21709672, 22042699, 22107829, 22289917, 22614325, 22726922, 22907048, 23239810, 23598171, 23633923, 23666701, 24112608, 24404580, 24486291, 24750504, 24766435, 25145835, 25421750, 25444930, 25820993, 25874976, 25961698, 25979929, 25987255, 26313373, 26657151, 26753883, 27009859, 27414060, 27694894, 27705804, 27870927, 27879258, 28077299, 28414323, 28675026, 28756644, 28787259, 28806414, 29086626, 29143801, 29488330, 29510549, 29581862, 29899875, 30262555, 30692217, 30742941, 31177400, 31654627, 31754210, 7564510, 7742546, 7772531, 8187071, 8558920, 8616079, 8683377, 8781434, 8866227, 9028963, 9057627, 9094977, 9250148, 9274957, 9337149, 9414185, 9517514, 9561912, 9665204, 9684923, 9763551, 9886332		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	LHGDN	16709933, 16825495, 17998938		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	16205118, 16540653, 16943625, 19561638		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	31152622	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	15589822, 15870172, 16645213, 16720834, 18175937, 18403613, 18450602, 18603563, 20015883, 20060365, 20538791, 20858903, 20864535, 20877721, 21537492, 21789382, 21948175, 22592607, 22911473, 23328624, 24164801, 24902788, 25552914, 25834112, 25994761, 26676635, 26789727, 26884713, 26997274, 27535106, 27669739, 28740552, 29066752, 29111347, 29343273, 29507312, 30126426, 30417521, 30450744, 30906218, 31018948, 31675375, 31755865, 31855575, 31936647, 32059753, 32898396, 33171486, 33301193, 34153064, 34807526, 35973983, 36675134, 37365294	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	15994285, 16079892, 16341035, 16984370, 17008539, 17488663, 17597811, 18273044, 18450602, 19052694, 19569254, 20053758, 20223922, 20634376, 20877721, 21030560, 21441929, 21537492, 21789382, 22766221, 23436734, 23669237, 23742937, 24671364, 24737308, 24902788, 25552914, 25957287, 26091065, 26505272, 26997274, 27535106, 28055106, 28475434, 29066752, 29254789, 29257272, 29343273, 29441887, 30126426, 30783516, 30919505, 31009764, 31675375, 31777586		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	17488663		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	16597596, 37427790	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	15659725, 15870172, 15994285, 16046528, 16051734, 16076867, 16109776, 16455956, 16645213, 16720834, 16926285, 17440048, 17768124, 17957027, 18175937, 18268276, 18308931, 18337557, 18403605, 18403611, 18403613, 18450602, 18450603, 18508799, 18556765, 18603563, 18641025, 18664261, 18668134, 18809607, 19059939, 19066330, 19100523, 19242062, 19279329, 19429869, 19587375, 19637342, 19657110, 19672946, 19775300, 20015883, 20026798, 20060365, 20172040, 20203266, 20425795, 20538791, 20538800, 20606168, 20616361, 20678218, 20858903, 20872983, 20877721, 20966504, 20979630, 20981679, 21127174, 21173122, 21177505, 21245599, 21275954, 21338238, 21343549, 21372155, 21596848, 21606167, 21784052, 21791472, 21791474, 21880628, 21881046, 21948175, 21967978, 22099964, 22126574, 22370328, 22417203, 22535592, 22592607, 22691121, 22707729, 22736495, 22879624, 22911473, 22912701, 22968966, 22983588, 23065518, 23161387, 23301224, 23307061, 23325837, 23328624, 23377436, 23496932, 23530539, 23540998, 23634996, 23656730, 23704090, 23716555, 23763915, 24004182, 24035716, 24097631, 24142997, 24164801, 24288427, 24301914, 24403256, 24413856, 24413869, 24488798, 24500843, 24596420, 24666762, 24667279, 24743218, 24797300, 24855211, 24867525, 24895580, 24902788, 24927407, 25026287, 25027285, 25281355, 25299584, 25381129, 25384962, 25531824, 25552914, 25573287, 25600947, 25706398, 25713434, 25791120, 25800051, 25932436, 25987093, 25992555, 26101160, 26123729, 26183674, 26351297, 26436590, 26486081, 26526573, 26676635, 26755712, 26789727, 26884713, 26899600, 26997274, 27040395, 27062340, 27276561, 27288520, 27374703, 27385100, 27389053, 27416910, 27460089, 27471865, 27529519, 27643573, 27669739, 27696203, 27698101, 27732946, 27784745, 27864740, 27983727, 27992414, 28294102, 28473620, 28525762, 28574487, 28645444, 28679652, 28740552, 28830460, 28945881, 28971903, 29066752, 29079128, 29111347, 29129825, 29274134, 29286103, 29310020, 29326119, 29343273, 29425073, 29519869, 29563537, 29601212, 29684564, 29724895, 29764005, 29976747, 30068244, 30082223, 30126426, 30341082, 30417521, 30420649, 30450744, 30455361, 30456896, 30521114, 30557403, 30641417, 30673601, 30728457, 30737482, 30902805, 30906218, 30921500, 30926971, 31048683, 31085507, 31145495, 31148220, 31185600, 31291378, 31348835, 31350825, 31373163, 31430225, 31450916, 31580501, 31606046, 31650162, 31675375, 31698462, 31742675, 31755865, 31826241, 31835432, 31851556, 31855575, 31915364, 31936647, 32051557, 32059753, 32203582, 32243389, 32398790, 32510599, 32699322, 32712325, 32970934, 33049054, 33077765, 33149230, 33171486, 33281829, 33299234, 33367545, 33429807, 33433047, 33491606, 33507703, 33536020, 33592069, 33594052, 33594943, 33654065, 33654209, 33711909, 33881523, 34033977, 34051812, 34064268, 34100902, 34111285, 34153064, 34164626, 34193978, 34238278, 34301789, 34343258, 34376804, 34459465, 34497326, 34516636, 34555849, 34795724, 34847232, 35017466, 35048553, 35208587, 35485701, 35558161, 35562747, 35899387, 35900493, 35922444, 35924580, 35967966, 35973983, 35979657, 36005563, 36053276, 36054614, 36103476, 36161791, 36291567, 36322818, 36455589, 36455613, 36499032, 36508705, 36610002, 36647792, 36675134, 36753372, 36796466, 36808479, 36815747, 36853451, 36881031, 36959701, 36964937, 36977823, 37298647, 37402862, 37458189, 37459200, 37470778, 37473530, 37635639, 37647641, 37839675, 37843328, 37925056, 37999976, 38002257, 38039513, 38126102, 38165072, 38215555, 38273254, 38364112, 38467769, 39336484, 39390137, 39519198, 39768795, 40429651	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Chronic	Myelomonocytic leukemia	Pubtator	16704439, 18055864	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	10753851, 19291801, 25033841, 26997274, 29274134, 30876657, 30996344, 32755558, 33301193, 34459465, 9256429	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10391679, 11021751, 14506644, 15659725, 15870172, 15964625, 15973451, 15994285, 16046528, 16051734, 16076867, 16079892, 16109776, 16205118, 16455950, 16455956, 16501600, 16540653, 16540685, 16541144, 16645213, 16678898, 16704439, 16720834, 16926285, 16984370, 17008539, 17076533, 17255785, 17306368, 17361227, 17440048, 17504301, 17546053, 17597811, 17598835, 17715399, 17768124, 17875528, 17943167, 17957027, 17990177, 18081718, 18090933, 18175937, 18192111, 18212245, 18268276, 18273044, 18308931, 18337557, 18367491, 18403605, 18403613, 18450602, 18450603, 18511415, 18556765, 18590714, 18603563, 18641025, 18668134, 18726096, 18801061, 18809607, 19005479, 19052985, 19055671, 19100523, 19242062, 19279329, 19289604, 19309322, 19365794, 19398719, 19429869, 19484332, 19516275, 19557552, 19569254, 19587375, 19593743, 19637342, 19657110, 19666870, 19672946, 19761432, 19770377, 19770764, 19817644, 19943049, 20001230, 20005259, 20015883, 20023256, 20026798, 20053758, 20060365, 20148885, 20172040, 20197555, 20203266, 20308656, 20357826, 20360144, 20425795, 20471513, 20538791, 20538800, 20542566, 20567020, 20616361, 20634376, 20678218, 20699639, 20803351, 20805365, 20855646, 20858903, 20872983, 20875872, 20877721, 20979630, 20981679, 21030560, 21112040, 21173125, 21205756, 21233837, 21338238, 21441929, 21504297, 21527803, 21537333, 21555683, 21577323, 21596848, 21611112, 21665178, 21689158, 21690555, 21707751, 21724308, 21784052, 21791472, 21791474, 21812014, 21860418, 21880628, 21881046, 21942328, 21948175, 22012066, 22035378, 22126574, 22338050, 22348345, 22371011, 22374696, 22494415, 22592607, 22595947, 22681934, 22691121, 22733614, 22736495, 22766221, 22851180, 22906848, 22914610, 22917530, 22968966, 23020761, 23065518, 23150981, 23161387, 23226219, 23238897, 23301224, 23307061, 23327922, 23377436, 23435463, 23436734, 23444226, 23465275, 23473998, 23480665, 23496932, 23530539, 23591014, 23601747, 23632886, 23656730, 23701943, 23704090, 23713453, 23716555, 23742937, 23763915, 23831574, 23877794, 23941109, 23978944, 24035716, 24097631, 24192815, 24220271, 24288427, 24443894, 24500843, 24522528, 24573385, 24596420, 24606448, 24666762, 24743218, 24824767, 24850867, 24855211, 24867525, 24927407, 24968822, 25015859, 25026287, 25027285, 25179729, 25281355, 25299584, 25347432, 25384962, 25400766, 25421715, 25543261, 25547501, 25552914, 25573287, 25575038, 25592059, 25600947, 25679063, 25713434, 25795706, 25795919, 25800051, 25891481, 25957287, 25977257, 25992555, 26071459, 26091065, 26101160, 26111466, 26123729, 26189213, 26200838, 26297285, 26376228, 26386075, 26418055, 26436590, 26499507, 26505272, 26508204, 26551637, 26634271, 26666953, 26669619, 26755712, 26789727, 26847745, 26884713, 26894557, 26997274, 27058426, 27140599, 27191933, 27276561, 27285584, 27321126, 27374703, 27471865, 27581357, 27595757, 27636548, 27643573, 27669739, 27698101, 27748301, 27784745, 27798920, 27841873, 27864740, 27865970, 27906185, 28017614, 28052366, 28055106, 28056203, 28111462, 28152414, 28384310, 28447422, 28471807, 28525762, 28536276, 28574487, 28645444, 28740552, 28835438, 28920929, 28971903, 29066752, 29090521, 29157973, 29175091, 29221119, 29254789, 29274134, 29286103, 29310020, 29343273, 29423110, 29425073, 29432313, 29441887, 29552198, 29601212, 29684564, 29718986, 29764005, 29785446, 29932212, 29961066, 30015632, 30068244, 30082225, 30089730, 30126426, 30130654, 30205049, 30214626, 30341082, 30389521, 30417521, 30455361, 30456896, 30521114, 30557403, 30630974, 30632059, 30640174, 30640175, 30641417, 30692594, 30710643, 30737482, 30783516, 30906218, 30921500, 30926392, 30996344, 31009764, 31048683, 31077683, 31123028, 31123030, 31136977, 31145495, 31148220, 31149783, 31185600, 31186273, 31291378, 31300747, 31333881, 31430225, 31595497, 31606046, 31650162, 31673932, 31675375, 31698462, 31742675, 31755865, 31767858, 31768677, 31777586, 31808857, 31808906, 31831844, 8570204, 8661158, 9328447, 9595039, 9665204		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	12031912, 16455950, 16455956, 16720834, 16926303, 17306368, 17637816, 17639390, 17715399, 17768124, 17990177, 18059485, 18081718, 18268276, 18273044, 18308931, 18367491, 18401421, 18511415, 18603563, 19052985		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CLINVAR_DG	19657110		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG	19822134, 21441929, 23877794, 27992414, 30420649		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	16704439, 25809997		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	15645429, 29746960		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17245342, 22528486, 23258611, 25918010, 28259962, 28596685, 28874807		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	17245342		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	17245342	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	15514966		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	17069796	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	25779011	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	22631075	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	30126426		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	10552961, 10807789, 10994999, 12115586, 17488663, 17690253, 17720243, 19088198, 19423729, 20223922, 20877721, 21112040, 21518927, 21778999, 23064464, 23338972, 26476082, 27662658, 28659337, 31177400, 7780128, 8187071, 8562957, 8701987, 8859196, 9121481, 9500471, 9598798, 9616164, 9684923, 9885226		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	17488663, 17690253, 17922009		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	20877721, 28659337, 32573700, 33246076, 33514657	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	10706887, 16982741, 17694547, 7780128, 8122112, 9057650, 9121481, 9174053		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	16982741, 8122112, 9057650, 9121481, 9174053		★☆☆☆☆ Found in Text Mining only
Lymphomatoid Papulosis	Lymphomatoid Papulosis	ORPHANET_DG	25349176		★☆☆☆☆ Found in Text Mining only
Lymphomatoid papulosis	Lymphomatoid Papulosis	Orphanet			★☆☆☆☆ Found in Text Mining only
Lymphomatoid Papulosis	Lymphomatoid Papulosis	BEFREE	8701987, 8781434, 9684923		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	25349176, 9449486		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	25349176	Associate	★☆☆☆☆ Found in Text Mining only
Maffucci Syndrome	Maffucci Syndrome	BEFREE	26508204		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	20533335		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10030688, 27211281, 28562134, 30613163		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	22926011, 27527851, 31330844		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	24787960		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	15645429, 29746960		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	19422084		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18037965, 24796332, 24860838, 30405806		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	10619186, 23489260, 24410879, 28454407, 30221047		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	10619186		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	15491744, 17920239, 18298902		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10619186, 12505251, 12882984, 15645429, 15964625, 16794633, 16855788, 16857742, 17094440, 17110082, 17113241, 17245342, 17353907, 17504301, 17920239, 17990177, 18212245, 18625744, 19581289, 19593743, 20026798, 21441929, 21575866, 21979956, 22677130, 23258611, 23267140, 23436734, 23483572, 24716928, 24787960, 24793791, 24998852, 25805179, 25961029, 25977257, 26376228, 26476082, 26559910, 26753883, 26997274, 27050906, 27058426, 27865970, 28152414, 28385077, 28454407, 28513872, 29283500, 29545914, 29901450, 30085406, 31307523, 31513277, 9376569		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	25818168		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22631075		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	20360144		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	18625744		★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	BEFREE	21297223		★☆☆☆☆ Found in Text Mining only
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	28424161	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	32671956	Associate	★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	18090933, 19279329		★☆☆☆☆ Found in Text Mining only
Monocytosis	Monocytosis	BEFREE	23226219		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	19581289, 36674758, 9736036	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	22761710, 25617756		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	14506644, 16341035, 20203266, 9665204		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	10391679, 11021751, 14506644, 16678898, 16984370, 17990177, 18090933, 18212245, 19052985, 19279329, 20203266, 20494930, 20678218, 20877721, 20924036, 21173125, 21233837, 21789382, 21943668, 22096250, 22851180, 24850867, 26101160, 30417521, 31136977, 8570204, 8661158, 9328447, 9665204		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	LHGDN	16678898, 17990177, 19052985		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndrome with Isolated del(5q)	Myelodysplastic syndrome	BEFREE	20877721		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	19279329, 19569249, 20678218, 20877721, 21789382, 24850867, 27992414, 30417521, 30902805, 31085507, 34111285, 36959701, 39390137, 39711284	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic-Myeloproliferative Diseases	Myelodysplastic-Myeloproliferative Diseases	BEFREE	20421268		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	16501600		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	18641025, 22691121, 25961029, 26205693		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	16870548, 21233837, 22348345, 23226219		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	LHGDN	16870548		★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorders	Myeloproliferative disorder	Pubtator	22348345	Associate	★☆☆☆☆ Found in Text Mining only
Myeloproliferative Neoplasm, Unclassifiable	Myeloproliferative Neoplasm	BEFREE	29417354		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	26847745	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	25648846		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10514417, 10552961, 10779648, 12080348, 12456315, 15161657, 15297972, 15491744, 15659725, 15964625, 16540653, 16704439, 16870548, 16943625, 16984370, 17245342, 17695725, 17920239, 17922009, 18037989, 18212245, 18298902, 19103589, 19587375, 19770764, 20145123, 20203266, 20223922, 20333249, 20338617, 21030560, 21297223, 21423761, 21518927, 21709672, 21724308, 21880628, 21979956, 22528486, 22677130, 23258611, 23489260, 23598171, 23831574, 24404580, 24410879, 24796332, 24814516, 25071014, 25179729, 25349176, 25602801, 25809997, 25907517, 26559910, 26754533, 27211281, 27501253, 27553022, 27879258, 27885451, 28003476, 28259962, 28359267, 28381186, 28385077, 28756644, 28920929, 29143801, 29283500, 30126359, 30692217, 31009764, 31571325, 8390804, 9092633, 9350304, 9643564, 9684923		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	21659357, 21942328, 22475129, 23542687, 24074521, 26499507, 30082223		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	36823396	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	20506166, 29455642		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	21575866		★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan syndrome	Pubtator	32712325	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	LHGDN	18448670		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	18448670	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	25865359, 33741265	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	19422084		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35142956	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	26669619, 31570891		★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	26621506		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	26621506	Inhibit	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	34335635	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	28623321		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	18641025, 23465275, 30126426		★☆☆☆☆ Found in Text Mining only
Primary Cutaneous Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	10702393		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary Cutaneous Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	ORPHANET_DG	25349176		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary cutaneous anaplastic large cell lymphoma	Anaplastic Lymphoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary Myelofibrosis	Myelofibrosis	LHGDN	18200037		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18037965, 24796332, 24860838, 30405806		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17549383, 18037965		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	24796332		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24860838	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23019224		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	23071625		★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid Tumor	BEFREE	31462227		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	29115716		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	17694547, 26297285		★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	35899387	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	14730621	Associate	★☆☆☆☆ Found in Text Mining only
secondary acute myeloid leukemia	Myeloid leukemia	BEFREE	15659725, 21135859, 21233837, 27992414		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	31513277		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	31513277	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	24290756, 29705980		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	19581289, 20338617, 31571325		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	19581289, 35715770, 36834892	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23489260, 24410879, 28454407, 30221047		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	10619186		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	20440860, 24358147, 34224728	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	BEFREE	24410879		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	24410879	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomatitis	Stomatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	LHGDN	16766651		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	20159827, 21102525, 23338972, 23730215, 24218456, 25884514, 26476082, 27879258, 28557340, 31340850		★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular Neoplasms	BEFREE	31513277		★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	36959701	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	20515654		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30613163, 31307523		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31307523	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	17920239, 23183654	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	27959455	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	25818168	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	14730621	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Malformations	Vascular malformation	Pubtator	37705750	Associate	★☆☆☆☆ Found in Text Mining only
X-Linked Dyskeratosis Congenita	Dyskeratosis Congenita, X-Linked	CTD_human_DG	31570891		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	10779648		★☆☆☆☆ Found in Text Mining only