MMP14 (matrix metallopeptidase 14)

Gene

• Entrez ID: 4323
• Gene name: Matrix metallopeptidase 14
• Gene symbol: MMP14
• Synonyms (NCBI Gene): MMP-14, MMP-X1, MT-MMP, MT-MMP 1, MT1-MMP, MT1MMP, MTMMP1, WNCHRS
• Chromosome: 14
• Chromosome location: 14q11.2
• Summary: Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as art

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777039	C>G	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016970	hsa-miR-335-5p	Microarray	18185580
MIRT021533	hsa-miR-145-5p	Reporter assay;Microarray	21351259
MIRT053694	hsa-miR-181a-5p	Microarray	22942087
MIRT437400	hsa-miR-133a-3p	Luciferase reporter assay, qRT-PCR, Western blot	23783274
MIRT437400	hsa-miR-133a-3p	Luciferase reporter assay, qRT-PCR, Western blot	23783274
MIRT437500	hsa-miR-24-3p	Luciferase reporter assay	24990232
MIRT732074	hsa-miR-22-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	26610210
MIRT732074	hsa-miR-22-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	26610210
MIRT734855	hsa-miR-675-5p	Luciferase reporter assay, Western blotting, RNA-seq	33513878
MIRT1153171	hsa-miR-1204	CLIP-seq
MIRT1153172	hsa-miR-1291	CLIP-seq
MIRT1153173	hsa-miR-1292	CLIP-seq
MIRT1153174	hsa-miR-146b-3p	CLIP-seq
MIRT1153175	hsa-miR-3194-5p	CLIP-seq
MIRT1153176	hsa-miR-4435	CLIP-seq
MIRT1153177	hsa-miR-4471	CLIP-seq
MIRT1153178	hsa-miR-4690-3p	CLIP-seq
MIRT1153179	hsa-miR-4755-3p	CLIP-seq
MIRT1153180	hsa-miR-4757-5p	CLIP-seq
MIRT1153181	hsa-miR-663b	CLIP-seq
MIRT1551345	hsa-miR-122	CLIP-seq
MIRT1551346	hsa-miR-125a-5p	CLIP-seq
MIRT1551347	hsa-miR-125b	CLIP-seq
MIRT1551348	hsa-miR-2467-3p	CLIP-seq
MIRT1551349	hsa-miR-3135b	CLIP-seq
MIRT1551350	hsa-miR-3184	CLIP-seq
MIRT1551351	hsa-miR-331-3p	CLIP-seq
MIRT1551352	hsa-miR-3652	CLIP-seq
MIRT1551353	hsa-miR-371b-3p	CLIP-seq
MIRT1551354	hsa-miR-423-5p	CLIP-seq
MIRT1551355	hsa-miR-4319	CLIP-seq
MIRT1551356	hsa-miR-4430	CLIP-seq
MIRT1551357	hsa-miR-4492	CLIP-seq
MIRT1551358	hsa-miR-4498	CLIP-seq
MIRT1551359	hsa-miR-4688	CLIP-seq
MIRT1551360	hsa-miR-485-5p	CLIP-seq
MIRT1551361	hsa-miR-486-3p	CLIP-seq
MIRT1551362	hsa-miR-544b	CLIP-seq
MIRT1551363	hsa-miR-548v	CLIP-seq
MIRT1551364	hsa-miR-762	CLIP-seq
MIRT2043847	hsa-miR-3173-3p	CLIP-seq
MIRT1153175	hsa-miR-3194-5p	CLIP-seq
MIRT2043848	hsa-miR-34a	CLIP-seq
MIRT2043849	hsa-miR-34c-5p	CLIP-seq
MIRT2043850	hsa-miR-4286	CLIP-seq
MIRT2043851	hsa-miR-449a	CLIP-seq
MIRT2043852	hsa-miR-449b	CLIP-seq
MIRT2043853	hsa-miR-4640-3p	CLIP-seq
MIRT2043854	hsa-miR-4695-5p	CLIP-seq
MIRT2273239	hsa-miR-1200	CLIP-seq
MIRT2273240	hsa-miR-3155	CLIP-seq
MIRT2273241	hsa-miR-3155b	CLIP-seq
MIRT2273242	hsa-miR-4252	CLIP-seq
MIRT2273243	hsa-miR-4324	CLIP-seq
MIRT2273244	hsa-miR-484	CLIP-seq
MIRT1551362	hsa-miR-544b	CLIP-seq
MIRT2390963	hsa-miR-149	CLIP-seq
MIRT2390964	hsa-miR-1913	CLIP-seq
MIRT2390965	hsa-miR-3064-5p	CLIP-seq
MIRT2390966	hsa-miR-3157-3p	CLIP-seq
MIRT2390967	hsa-miR-3162-3p	CLIP-seq
MIRT1153175	hsa-miR-3194-5p	CLIP-seq
MIRT2390968	hsa-miR-324-3p	CLIP-seq
MIRT2390969	hsa-miR-4257	CLIP-seq
MIRT2390970	hsa-miR-4733-3p	CLIP-seq
MIRT2390971	hsa-miR-4749-3p	CLIP-seq
MIRT2390972	hsa-miR-4794	CLIP-seq
MIRT2390973	hsa-miR-4800-5p	CLIP-seq
MIRT2390974	hsa-miR-548ag	CLIP-seq
MIRT2390975	hsa-miR-548ai	CLIP-seq
MIRT2390976	hsa-miR-604	CLIP-seq
MIRT2390977	hsa-miR-647	CLIP-seq
MIRT2390978	hsa-miR-711	CLIP-seq
MIRT2390979	hsa-miR-759	CLIP-seq
MIRT2438656	hsa-miR-1182	CLIP-seq
MIRT2273239	hsa-miR-1200	CLIP-seq
MIRT1551345	hsa-miR-122	CLIP-seq
MIRT2438657	hsa-miR-1225-3p	CLIP-seq
MIRT2438658	hsa-miR-1225-5p	CLIP-seq
MIRT2438659	hsa-miR-1245b-3p	CLIP-seq
MIRT1551346	hsa-miR-125a-5p	CLIP-seq
MIRT1551347	hsa-miR-125b	CLIP-seq
MIRT2438660	hsa-miR-1266	CLIP-seq
MIRT2438661	hsa-miR-1273f	CLIP-seq
MIRT2438662	hsa-miR-1321	CLIP-seq
MIRT2438663	hsa-miR-143	CLIP-seq
MIRT2438664	hsa-miR-192	CLIP-seq
MIRT2438665	hsa-miR-193b	CLIP-seq
MIRT2438666	hsa-miR-215	CLIP-seq
MIRT2438667	hsa-miR-2277-3p	CLIP-seq
MIRT1551348	hsa-miR-2467-3p	CLIP-seq
MIRT2438668	hsa-miR-3065-5p	CLIP-seq
MIRT2438669	hsa-miR-3127-5p	CLIP-seq
MIRT2438670	hsa-miR-3130-3p	CLIP-seq
MIRT1551349	hsa-miR-3135b	CLIP-seq
MIRT2438671	hsa-miR-3144-5p	CLIP-seq
MIRT2438672	hsa-miR-3156-3p	CLIP-seq
MIRT2438673	hsa-miR-3174	CLIP-seq
MIRT2438674	hsa-miR-3176	CLIP-seq
MIRT1551350	hsa-miR-3184	CLIP-seq
MIRT1551351	hsa-miR-331-3p	CLIP-seq
MIRT2438675	hsa-miR-3649	CLIP-seq
MIRT1551352	hsa-miR-3652	CLIP-seq
MIRT2438676	hsa-miR-3664-3p	CLIP-seq
MIRT2438677	hsa-miR-3667-3p	CLIP-seq
MIRT1551353	hsa-miR-371b-3p	CLIP-seq
MIRT2438678	hsa-miR-3918	CLIP-seq
MIRT2438679	hsa-miR-3922-3p	CLIP-seq
MIRT2438680	hsa-miR-3978	CLIP-seq
MIRT1551354	hsa-miR-423-5p	CLIP-seq
MIRT2273242	hsa-miR-4252	CLIP-seq
MIRT2390969	hsa-miR-4257	CLIP-seq
MIRT2438681	hsa-miR-4283	CLIP-seq
MIRT2438682	hsa-miR-4290	CLIP-seq
MIRT2438683	hsa-miR-4297	CLIP-seq
MIRT2438684	hsa-miR-4301	CLIP-seq
MIRT1551355	hsa-miR-4319	CLIP-seq
MIRT2438685	hsa-miR-4323	CLIP-seq
MIRT2273243	hsa-miR-4324	CLIP-seq
MIRT2438686	hsa-miR-4419a	CLIP-seq
MIRT1551356	hsa-miR-4430	CLIP-seq
MIRT2438687	hsa-miR-4446-3p	CLIP-seq
MIRT2438688	hsa-miR-4448	CLIP-seq
MIRT2438689	hsa-miR-4459	CLIP-seq
MIRT2438690	hsa-miR-4468	CLIP-seq
MIRT2438691	hsa-miR-4489	CLIP-seq
MIRT1551357	hsa-miR-4492	CLIP-seq
MIRT1551358	hsa-miR-4498	CLIP-seq
MIRT2438692	hsa-miR-4510	CLIP-seq
MIRT2438693	hsa-miR-4518	CLIP-seq
MIRT2438694	hsa-miR-4536	CLIP-seq
MIRT2438695	hsa-miR-4632	CLIP-seq
MIRT2438696	hsa-miR-4649-3p	CLIP-seq
MIRT2438697	hsa-miR-4662a-5p	CLIP-seq
MIRT2438698	hsa-miR-4676-5p	CLIP-seq
MIRT2438699	hsa-miR-4684-5p	CLIP-seq
MIRT2438700	hsa-miR-4687-5p	CLIP-seq
MIRT1551359	hsa-miR-4688	CLIP-seq
MIRT1153178	hsa-miR-4690-3p	CLIP-seq
MIRT2438701	hsa-miR-4708-5p	CLIP-seq
MIRT2438702	hsa-miR-4722-5p	CLIP-seq
MIRT2438703	hsa-miR-4728-5p	CLIP-seq
MIRT2390970	hsa-miR-4733-3p	CLIP-seq
MIRT2438704	hsa-miR-4739	CLIP-seq
MIRT2438705	hsa-miR-4756-5p	CLIP-seq
MIRT2438706	hsa-miR-4760-5p	CLIP-seq
MIRT2438707	hsa-miR-4770	CLIP-seq
MIRT2438708	hsa-miR-4779	CLIP-seq
MIRT2390973	hsa-miR-4800-5p	CLIP-seq
MIRT1551360	hsa-miR-485-5p	CLIP-seq
MIRT1551361	hsa-miR-486-3p	CLIP-seq
MIRT2438709	hsa-miR-512-5p	CLIP-seq
MIRT2438710	hsa-miR-532-3p	CLIP-seq
MIRT1551362	hsa-miR-544b	CLIP-seq
MIRT2390974	hsa-miR-548ag	CLIP-seq
MIRT2390975	hsa-miR-548ai	CLIP-seq
MIRT1551363	hsa-miR-548v	CLIP-seq
MIRT2438711	hsa-miR-550a	CLIP-seq
MIRT2438712	hsa-miR-575	CLIP-seq
MIRT2438713	hsa-miR-595	CLIP-seq
MIRT2438714	hsa-miR-634	CLIP-seq
MIRT2438715	hsa-miR-648	CLIP-seq
MIRT2390978	hsa-miR-711	CLIP-seq
MIRT2390979	hsa-miR-759	CLIP-seq
MIRT1551364	hsa-miR-762	CLIP-seq
MIRT2438716	hsa-miR-875-3p	CLIP-seq
MIRT2438717	hsa-miR-921	CLIP-seq
MIRT2390970	hsa-miR-4733-3p	CLIP-seq
MIRT2390973	hsa-miR-4800-5p	CLIP-seq
MIRT2390978	hsa-miR-711	CLIP-seq
MIRT2390967	hsa-miR-3162-3p	CLIP-seq
MIRT2454275	hsa-miR-3679-3p	CLIP-seq
MIRT1551346	hsa-miR-125a-5p	CLIP-seq
MIRT1551347	hsa-miR-125b	CLIP-seq
MIRT2438660	hsa-miR-1266	CLIP-seq
MIRT2438661	hsa-miR-1273f	CLIP-seq
MIRT2438663	hsa-miR-143	CLIP-seq
MIRT2438665	hsa-miR-193b	CLIP-seq
MIRT2438667	hsa-miR-2277-3p	CLIP-seq
MIRT1551348	hsa-miR-2467-3p	CLIP-seq
MIRT2438671	hsa-miR-3144-5p	CLIP-seq
MIRT2438672	hsa-miR-3156-3p	CLIP-seq
MIRT2438674	hsa-miR-3176	CLIP-seq
MIRT1551350	hsa-miR-3184	CLIP-seq
MIRT1551351	hsa-miR-331-3p	CLIP-seq
MIRT2438675	hsa-miR-3649	CLIP-seq
MIRT1551352	hsa-miR-3652	CLIP-seq
MIRT2438679	hsa-miR-3922-3p	CLIP-seq
MIRT2438680	hsa-miR-3978	CLIP-seq
MIRT1551354	hsa-miR-423-5p	CLIP-seq
MIRT2273242	hsa-miR-4252	CLIP-seq
MIRT2390969	hsa-miR-4257	CLIP-seq
MIRT2438682	hsa-miR-4290	CLIP-seq
MIRT2438684	hsa-miR-4301	CLIP-seq
MIRT1551355	hsa-miR-4319	CLIP-seq
MIRT1551356	hsa-miR-4430	CLIP-seq
MIRT2438693	hsa-miR-4518	CLIP-seq
MIRT2438695	hsa-miR-4632	CLIP-seq
MIRT2438700	hsa-miR-4687-5p	CLIP-seq
MIRT1551359	hsa-miR-4688	CLIP-seq
MIRT1153178	hsa-miR-4690-3p	CLIP-seq
MIRT2438701	hsa-miR-4708-5p	CLIP-seq
MIRT2438707	hsa-miR-4770	CLIP-seq
MIRT1551360	hsa-miR-485-5p	CLIP-seq
MIRT1551361	hsa-miR-486-3p	CLIP-seq
MIRT2438709	hsa-miR-512-5p	CLIP-seq
MIRT2438710	hsa-miR-532-3p	CLIP-seq
MIRT1551362	hsa-miR-544b	CLIP-seq
MIRT1551363	hsa-miR-548v	CLIP-seq
MIRT2438716	hsa-miR-875-3p	CLIP-seq
MIRT2438656	hsa-miR-1182	CLIP-seq
MIRT1153171	hsa-miR-1204	CLIP-seq
MIRT2438657	hsa-miR-1225-3p	CLIP-seq
MIRT2685107	hsa-miR-1238	CLIP-seq
MIRT1551346	hsa-miR-125a-5p	CLIP-seq
MIRT1551347	hsa-miR-125b	CLIP-seq
MIRT2438660	hsa-miR-1266	CLIP-seq
MIRT2438661	hsa-miR-1273f	CLIP-seq
MIRT1153172	hsa-miR-1291	CLIP-seq
MIRT2438663	hsa-miR-143	CLIP-seq
MIRT1153174	hsa-miR-146b-3p	CLIP-seq
MIRT2390964	hsa-miR-1913	CLIP-seq
MIRT2685108	hsa-miR-1976	CLIP-seq
MIRT2438667	hsa-miR-2277-3p	CLIP-seq
MIRT1551348	hsa-miR-2467-3p	CLIP-seq
MIRT2438668	hsa-miR-3065-5p	CLIP-seq
MIRT2685109	hsa-miR-3136-5p	CLIP-seq
MIRT2438671	hsa-miR-3144-5p	CLIP-seq
MIRT2438672	hsa-miR-3156-3p	CLIP-seq
MIRT2438673	hsa-miR-3174	CLIP-seq
MIRT2685110	hsa-miR-3183	CLIP-seq
MIRT1551350	hsa-miR-3184	CLIP-seq
MIRT1153175	hsa-miR-3194-5p	CLIP-seq
MIRT2390968	hsa-miR-324-3p	CLIP-seq
MIRT1551351	hsa-miR-331-3p	CLIP-seq
MIRT2438675	hsa-miR-3649	CLIP-seq
MIRT1551352	hsa-miR-3652	CLIP-seq
MIRT2438676	hsa-miR-3664-3p	CLIP-seq
MIRT2685111	hsa-miR-3667-5p	CLIP-seq
MIRT2685112	hsa-miR-3921	CLIP-seq
MIRT2438680	hsa-miR-3978	CLIP-seq
MIRT1551354	hsa-miR-423-5p	CLIP-seq
MIRT2685113	hsa-miR-4267	CLIP-seq
MIRT2438682	hsa-miR-4290	CLIP-seq
MIRT2438684	hsa-miR-4301	CLIP-seq
MIRT1551355	hsa-miR-4319	CLIP-seq
MIRT2438685	hsa-miR-4323	CLIP-seq
MIRT2685114	hsa-miR-4420	CLIP-seq
MIRT1551356	hsa-miR-4430	CLIP-seq
MIRT1153176	hsa-miR-4435	CLIP-seq
MIRT2685115	hsa-miR-4439	CLIP-seq
MIRT2438690	hsa-miR-4468	CLIP-seq
MIRT2685116	hsa-miR-4513	CLIP-seq
MIRT2438693	hsa-miR-4518	CLIP-seq
MIRT2438695	hsa-miR-4632	CLIP-seq
MIRT2685117	hsa-miR-4653-5p	CLIP-seq
MIRT2438697	hsa-miR-4662a-5p	CLIP-seq
MIRT2438698	hsa-miR-4676-5p	CLIP-seq
MIRT2685118	hsa-miR-4682	CLIP-seq
MIRT2438699	hsa-miR-4684-5p	CLIP-seq
MIRT2438700	hsa-miR-4687-5p	CLIP-seq
MIRT1551359	hsa-miR-4688	CLIP-seq
MIRT1153178	hsa-miR-4690-3p	CLIP-seq
MIRT2685119	hsa-miR-4690-5p	CLIP-seq
MIRT2685120	hsa-miR-4691-5p	CLIP-seq
MIRT2438701	hsa-miR-4708-5p	CLIP-seq
MIRT2685121	hsa-miR-4710	CLIP-seq
MIRT2685122	hsa-miR-4722-3p	CLIP-seq
MIRT2438702	hsa-miR-4722-5p	CLIP-seq
MIRT2685123	hsa-miR-4723-3p	CLIP-seq
MIRT2390970	hsa-miR-4733-3p	CLIP-seq
MIRT2390971	hsa-miR-4749-3p	CLIP-seq
MIRT1153179	hsa-miR-4755-3p	CLIP-seq
MIRT1153180	hsa-miR-4757-5p	CLIP-seq
MIRT2438706	hsa-miR-4760-5p	CLIP-seq
MIRT2438707	hsa-miR-4770	CLIP-seq
MIRT2685124	hsa-miR-4786-3p	CLIP-seq
MIRT2685125	hsa-miR-4792	CLIP-seq
MIRT2390973	hsa-miR-4800-5p	CLIP-seq
MIRT1551360	hsa-miR-485-5p	CLIP-seq
MIRT1551361	hsa-miR-486-3p	CLIP-seq
MIRT2438709	hsa-miR-512-5p	CLIP-seq
MIRT2438710	hsa-miR-532-3p	CLIP-seq
MIRT1551362	hsa-miR-544b	CLIP-seq
MIRT1551363	hsa-miR-548v	CLIP-seq
MIRT2438712	hsa-miR-575	CLIP-seq
MIRT1153181	hsa-miR-663b	CLIP-seq
MIRT2390978	hsa-miR-711	CLIP-seq
MIRT2438716	hsa-miR-875-3p	CLIP-seq
MIRT2685126	hsa-miR-891a	CLIP-seq
MIRT2438717	hsa-miR-921	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CTNNB1	Activation	21517265
CTNNBIP1	Unknown	14639622
EGR1	Activation	17158885
EPAS1	Activation	15592504
ETV4	Activation	15756447;18425363
KLF8	Activation	23812425
MAZ	Activation	15528467
NFKB1	Activation	19303700;21627988
RELA	Activation	19303700;21627988
SP1	Activation	15592504
SP1	Unknown	10721699;17534446
SRF	Activation	12654640
STAT3	Unknown	14673954

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IBA
GO:0001501	Process	Skeletal system development	IEA
GO:0001503	Process	Ossification	IEA
GO:0001503	Process	Ossification	IEA
GO:0001525	Process	Angiogenesis	IEA
GO:0001541	Process	Ovarian follicle development	IEA
GO:0001666	Process	Response to hypoxia	IEA
GO:0001935	Process	Endothelial cell proliferation	IEA
GO:0001958	Process	Endochondral ossification	IEA
GO:0004175	Function	Endopeptidase activity	IDA	20666777
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IDA	8015608, 35177851
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0004222	Function	Metalloendopeptidase activity	ISS
GO:0004222	Function	Metalloendopeptidase activity	TAS	8015608
GO:0004252	Function	Serine-type endopeptidase activity	TAS
GO:0005178	Function	Integrin binding	IEA
GO:0005515	Function	Protein binding	IPI	14718544, 18164686, 20608975, 20666777, 20798051, 21152186, 21219645, 21572390, 22065321, 24112707, 25304424, 25416956, 32296183, 33961781
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IMP	24784232
GO:0005634	Component	Nucleus	IMP	24784232
GO:0005737	Component	Cytoplasm	IDA	22065321
GO:0005737	Component	Cytoplasm	IEA
GO:0005796	Component	Golgi lumen	TAS
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	8015608
GO:0005886	Component	Plasma membrane	IDA	15351710, 24859005
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8015608
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006508	Process	Proteolysis	IDA	15863497, 24970228
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	TAS	8015608, 14645246
GO:0006979	Process	Response to oxidative stress	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	TAS	8015608
GO:0008584	Process	Male gonad development	IEA
GO:0009612	Process	Response to mechanical stimulus	IEA
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0009725	Process	Response to hormone	IEA
GO:0010831	Process	Positive regulation of myotube differentiation	IEA
GO:0010831	Process	Positive regulation of myotube differentiation	ISS
GO:0010954	Process	Positive regulation of protein processing	IEA
GO:0016020	Component	Membrane	IEA
GO:0016477	Process	Cell migration	IEA
GO:0016485	Process	Protein processing	TAS	24970228
GO:0016787	Function	Hydrolase activity	IEA
GO:0022617	Process	Extracellular matrix disassembly	TAS
GO:0030163	Process	Protein catabolic process	IDA	35177851
GO:0030198	Process	Extracellular matrix organization	IBA
GO:0030307	Process	Positive regulation of cell growth	IDA	22065321
GO:0030324	Process	Lung development	IEA
GO:0030335	Process	Positive regulation of cell migration	IDA	22065321
GO:0030574	Process	Collagen catabolic process	IBA
GO:0030574	Process	Collagen catabolic process	IEA
GO:0030574	Process	Collagen catabolic process	TAS
GO:0031012	Component	Extracellular matrix	IEA
GO:0031410	Component	Cytoplasmic vesicle	IDA	24859005
GO:0031638	Process	Zymogen activation	IBA
GO:0031638	Process	Zymogen activation	IDA	20666777
GO:0031638	Process	Zymogen activation	IEA
GO:0035987	Process	Endodermal cell differentiation	IEP	23154389
GO:0035988	Process	Chondrocyte proliferation	IEA
GO:0042470	Component	Melanosome	IEA
GO:0043615	Process	Astrocyte cell migration	IEA
GO:0043627	Process	Response to estrogen	IEA
GO:0044354	Component	Macropinosome	IDA	24859005
GO:0045111	Component	Intermediate filament cytoskeleton	IDA
GO:0045579	Process	Positive regulation of B cell differentiation	IEA
GO:0045579	Process	Positive regulation of B cell differentiation	ISS
GO:0045746	Process	Negative regulation of Notch signaling pathway	IEA
GO:0045746	Process	Negative regulation of Notch signaling pathway	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048701	Process	Embryonic cranial skeleton morphogenesis	IEA
GO:0048754	Process	Branching morphogenesis of an epithelial tube	IEA
GO:0048771	Process	Tissue remodeling	IEA
GO:0048870	Process	Cell motility	IEA
GO:0048870	Process	Cell motility	TAS	14645246
GO:0051895	Process	Negative regulation of focal adhesion assembly	IEA
GO:0060322	Process	Head development	IEA
GO:0060348	Process	Bone development	IEA
GO:0070006	Function	Metalloaminopeptidase activity	IDA	24970228
GO:0070006	Function	Metalloaminopeptidase activity	TAS	14645246
GO:0071412	Process	Cellular response to genistein	IEA
GO:0097094	Process	Craniofacial suture morphogenesis	IEA
GO:0160144	Process	GDF15-GFRAL signaling pathway	IDA	31535977
GO:0160145	Process	Negative regulation of GDF15-GFRAL signaling pathway	IDA	35177851
GO:1903076	Process	Regulation of protein localization to plasma membrane	IMP	20666777
GO:1905523	Process	Positive regulation of macrophage migration	IEA
GO:1990834	Process	Response to odorant	IEA

Other IDs

• MIM: 600754
• HGNC: 7160
• e!Ensembl: ENSG00000157227

Protein

• UniProt ID: P50281
• Protein name: Matrix metalloproteinase-14 (MMP-14) (EC 3.4.24.80) (MMP-X1) (Membrane-type matrix metalloproteinase 1) (MT-MMP 1) (MTMMP1) (Membrane-type-1 matrix metalloproteinase) (MT1-MMP) (MT1MMP)
• Protein function: Endopeptidase that degrades various components of the extracellular matrix such as collagen (PubMed:8015608). Essential for pericellular collagenolysis and modeling of skeletal and extraskeletal connective tissues during development (By similari
• PDB: 1BQQ, 1BUV, 2MQS, 3C7X, 3MA2, 3X23, 4P3C, 4P3D, 4QXU, 5H0U, 6CLZ, 6CM1
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01471	PG_binding_1	36 → 88	Putative peptidoglycan binding domain	Domain
  PF00413	Peptidase_M10	118 → 284	Matrixin	Domain
  PF00045	Hemopexin	323 → 366	Hemopexin	Repeat
  PF00045	Hemopexin	368 → 412	Hemopexin	Repeat
  PF00045	Hemopexin	415 → 461	Hemopexin	Repeat
  PF00045	Hemopexin	465 → 510	Hemopexin	Repeat
  PF11857	DUF3377	512 → 582	Domain of unknown function (DUF3377)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in stromal cells of colon, breast, and head and neck. Expressed in lung tumors. {ECO:0000269|PubMed:18223680}.
• Sequence:

  MSPAPRPPRCLLLPLLTLGTALASLGSAQSSSFSPEAWLQQYGYLPPGDLRTHTQRSPQS
  LSAAIAAMQKFYGLQVTGKADADTMKAMRRPRCGVPDKFGAEIKANVRRKRYAIQGLKWQ
  HNEITFCIQNYTPKVGEYATYEAIRKAFRVWESATPLRFREVPYAYIREGHEKQADIMIF
  FAEGFHGDSTPFDGEGGFLAHAYFPGPNIGGDTHFDSAEPWTVRNEDLNGNDIFLVAVHE
  LGHALGLEHSSDPSAIMAPFYQWMDTENFVLPDDDRRGIQQLYGGESGFPTKMPPQPRTT
  SRPSVPDKPKNPTYGPNICDGNFDTVAMLRGEMFVFKERWFWRVRNNQVMDGYPMPIGQF
  WRGLPASINTAYERKDGKFVFFKGDKHWVFDEASLEPGYPKHIKELGRGLPTDKIDAALF
  WMPNGKTYFFRGNKYYRFNEELRAVDSEYPKNIKVWEGIPESPRGSFMGSDEVFTYFYKG
  NKYWKFNNQKLKVEPGYPKSALRDWMGCPSGGRPDEGTEEETEVIIIEVDEEGGGAVSAA
  AVVLPVLLLLLVLAVGLAVFFFRRHGTPRRLLYCQRSLLDKV

• Sequence length: 582

Pathways

KEGG:

TNF signaling pathway
GnRH signaling pathway
Parathyroid hormone synthesis, secretion and action

Reactome:

Collagen degradation
Degradation of the extracellular matrix
Activation of Matrix Metalloproteinases

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
Winchester syndrome	Pathogenic	rs1284390443, rs587777039	RCV003988802 RCV000055657	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AORTIC ANEURYSM, ABDOMINAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE AIRWAY DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUPUYTREN CONTRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MMP14-related disorder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, FAMILIAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY DISEASE, CHRONIC OBSTRUCTIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TORG-WINCHESTER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	10914717, 10989641, 17332756, 20876804		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	CTD_human_DG	21472143		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	21472143		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	19402080, 31522616		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Basal Cell	Adenocarcinoma	CTD_human_DG	21472143		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	CTD_human_DG	21472143		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Tubular	Adenocarcinoma	CTD_human_DG	21472143		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	27144841		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	29654741		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyps	Adenomatous Polyposis	BEFREE	17075343		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	22707305		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	19567368		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	33282112	Associate	★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	19709349		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	39941035	Inhibit	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	24323769		★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	21955474	Associate	★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	17348445	Inhibit	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	21057545, 21148071, 21288898, 21856775, 29580808, 30224904		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	27923483		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	11496285	Stimulate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	11877705, 17322367, 25993293	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	19010778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Aneurysm, Abdominal	Aortic Aneurysm	CTD_human_DG	19010778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic coarctation	Aortic Coarctation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Valve Calcification of	Aortic valve disease	Pubtator	21146836	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	28420669		★☆☆☆☆ Found in Text Mining only
Arterial Occlusive Diseases	Arterial occlusive disease	Pubtator	11496285	Stimulate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	24472034, 25490770, 28735290		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	22922033, 9639575		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	10531073, 10830778, 10857781, 11959761, 19248098, 26464678, 9014820	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	11824946		★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	37964516	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	10027400, 10895974		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	10027400	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	18655030		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	24472034, 25490770, 28735290		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	25490770	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Avellino corneal dystrophy	Avellino Corneal Dystrophy	BEFREE	30489629		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	30483788		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	10995877		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	22555040, 28471417		★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	BEFREE	28420669		★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	17382648	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	19330734	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	10996723, 24573354		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	14691052	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	37904429	Associate	★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	LHGDN	18267120		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	18267120, 20063114, 36430705	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	19326372, 25640948, 26052095		★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	BEFREE	11919158		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11182063, 11335709, 14578451, 14691052, 14729059, 15255181, 16140936, 16430785, 16525713, 16540652, 16776850, 16807982, 17295676, 17669621, 19144199, 19402080, 21706048, 21792195, 22922740, 23629968, 23733191, 23812425, 24202705, 24657728, 25015290, 26893363, 27756325, 27889376, 28954862, 29552138, 29556904, 29733741, 30065298, 30160940, 30502358, 31130862, 31820782, 8665498, 9062387, 9166284		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	24014025		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10391091, 10551322, 11335709, 11724803, 12918061, 15118097, 15381670, 16140936, 16776850, 18503039, 18505826, 18571410, 19010933, 19243594, 20571065, 20650008, 22842186, 22995648, 24753582, 25029110, 25774665, 26504170, 26637400, 26893363, 26916665, 27116935, 27255086, 27756325, 29891722, 32986377, 34237080, 34876482, 35296631	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	38189813	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cap Myopathy	Cap myopathy	Pubtator	16619495	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	18519667, 26040767, 27562173, 31308045, 32930509	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10861264, 11235994, 11844598, 12185585, 12673424, 26106602, 8988738, 9198203, 9751409		★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	16807982	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	16807982	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	11304581, 15668718, 19239691, 20653060, 22546345, 25549355, 26362312, 34007838	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	9736043	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	16807982, 20127359	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	10996723, 24573354		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	10491020, 22835601		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	19402080, 23783274, 25195136, 28013056, 30359513, 8971175		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	18976802, 26867765, 26959113	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	21288898, 31731384, 37821678	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	15592504	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	17140440, 18976802, 21300979, 23281640, 28596300	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	10376963, 34868395	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Cribriform	Carcinoma	CTD_human_DG	21472143		★☆☆☆☆ Found in Text Mining only
Carcinoma, Granular Cell	Carcinoma	CTD_human_DG	21472143		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	17475671, 23670532, 26867765, 30741846, 31282404		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	17670887		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	17670887	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	LHGDN	17670887		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	17670887, 26963743		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	31278967		★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	10830778, 31470617, 9212749	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	30035384		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	24323769		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	10780674, 21997166, 30355924, 31810492		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	10780674, 17167534, 21997166, 22527983, 30355924, 31810492		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	19748669		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	22707305		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	37274806	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	9736043	Stimulate	★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	Pubtator	37904429	Associate	★☆☆☆☆ Found in Text Mining only
Cholesteatoma Middle Ear	Middle ear cholesteatoma	Pubtator	37904429	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	10473866	Stimulate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	9125252		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma Mesenchymal	Chondrosarcoma	Pubtator	10473866	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	16525718		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	LHGDN	16525718		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	CTD_human_DG	19661247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cirrhosis	Cirrhosis	BEFREE	21298348		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	31793743		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	15260832, 22956286		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	12184536		★☆☆☆☆ Found in Text Mining only
Colonic Polyps	Colonic polyps	Pubtator	28376625	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10733122, 12185585, 14639622, 17348445, 19020773, 20721961, 26106602, 30120968, 31549406		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	10901373, 21968416, 26106602, 26650241, 34582006	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	14707454		★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21965271		★☆☆☆☆ Found in Text Mining only
Corneal Neovascularization	Corneal Neovascularization	BEFREE	31117124		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	23102905		★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	35958279	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	LHGDN	19006025		★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	BEFREE	19010778		★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	29864786		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	9125252		★☆☆☆☆ Found in Text Mining only
Dental Caries	Dental caries	Pubtator	22079283	Stimulate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	39245941	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	20660624, 27882817, 29103177, 29853773		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	22893718	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	20660624, 27882817, 29103177, 29853773		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	17928399, 26620678		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	19006025		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	24243641		★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	BEFREE	16609908		★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double Outlet Right Ventricle	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dupuytren Contracture	Dupuytren contracture	Pubtator	17336841, 22342364, 35627129	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dupuytren Contracture	Dupuytren Contracture	GWASCAT_DG	28886342		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dwarfism	Dwarfism	BEFREE	25991604		★☆☆☆☆ Found in Text Mining only
Emphysema	Emphysema	Pubtator	18723334	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	26842619		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	11920503, 26842619, 29371931, 30036538, 30832559		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	11920503		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	12372458	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	12372458, 27695098		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	LHGDN	12372458, 12587534		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	12372458, 19055724	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilic esophagitis	Eosinophilia	BEFREE	25539192		★☆☆☆☆ Found in Text Mining only
Eosinophilic Esophagitis	Eosinophilia	Pubtator	25539192	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa	Epidermolysis bullosa	Pubtator	20443817	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	26867765		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	10995877, 21965271		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	23674108, 24196787, 24789592, 26314845		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	CTD_human_DG	21472143		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	23674108, 24196787, 24789592		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	24196787	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	10861264, 24196787, 26916665, 29379981, 32930509	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	10208438, 10548512, 10667602, 11240131, 11335709, 14647466, 16093431, 17389600, 23756810, 24099040, 25545756, 26314845, 30641935		★☆☆☆☆ Found in Text Mining only
Fibrosis of pancreas	Fibrosis Of Pancreas	BEFREE	21856775		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	15482348, 28774960, 31048740		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	18927121		★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	16430475		★☆☆☆☆ Found in Text Mining only
Generalized osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant cell arteritis	Pubtator	17502363	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	10027400, 10389763, 10895974, 11235952, 11583578, 11853893, 12918061, 17460777, 18267120, 19107234, 19326372, 21088866, 22692046, 24462646, 25545756, 25640948, 26464124, 28929923, 29986882, 30291676, 31443114, 31677819, 9922462		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	10027400, 12918061, 14631378, 17460777, 18267120, 25825051, 31142630, 34638754, 34884812, 35682709	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	9708803	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	10027400, 10389763, 11235952, 11583578, 11853893, 17460777, 18267120, 19326372, 21088866, 22692046, 24462646, 25545756, 25640948, 26464124, 28929923, 29338907, 29986882, 30291676, 31443114, 31677819, 9922462		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	10206300, 10895974, 10996658, 11809713, 15279711, 15381157, 15992376, 19272160, 19617536, 21419107, 23707077, 24657728, 25452390, 26052095, 27154818, 31298339, 31443114, 31773232, 9922462		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	10206300, 10996658, 15016831, 15279711, 15992376, 17490812, 23166329, 27287871, 27613828, 9410885, 9708803	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	11809713, 15743799		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	34819020	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis, Minimal Change	Glomerulonephritis	BEFREE	18927121		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	10840163		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	32633349	Stimulate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	7708715	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	19523958	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	25987077	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	29459817		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	LHGDN	18655030		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	25539192, 31058412	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	16259004, 19523958, 23965235, 26323509	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	22679501	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	36265170	Stimulate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	10861266	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	17075343, 31793743		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	26620678		★☆☆☆☆ Found in Text Mining only
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	26620678		★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	16807982		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	22177562		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	18927121		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	32633349	Stimulate	★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	10491020	Associate	★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	30926902		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	23814095, 34256950	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10353746		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	21512861		★☆☆☆☆ Found in Text Mining only
Lipoid nephrosis	Lipoid Nephrosis	BEFREE	18927121		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10914717, 11813304, 12488433, 16419154, 17187364, 18025272, 21298348, 26069248, 27720259, 27966863, 30291676, 9514536, 9736043		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	17219425		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	15591520, 28774960	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	21298348		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	30291676		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Neoplasms	Liver neoplasm	Pubtator	9654189	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Low Tension Glaucoma	Low Tension Glaucoma	BEFREE	14704547		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	18223680		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23605953	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	34868395	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphangioleiomyomatosis	Lymphangiomyomatosis	BEFREE	12654640		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	10491020, 25851348, 26040767, 27562173	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	LHGDN	12169394		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	16807982, 20412339, 22995648, 25268950, 31619663	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	26040767		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	10206300, 10895974, 9922462		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	10840163		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	20969861		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11182063, 14578451, 16430785, 16525713, 16776850, 16807982, 17669621, 19144199, 19402080, 21706048, 21792195, 22922740, 23812425, 24202705, 24657728, 25015290, 25893299, 26893363, 27756325, 27889376, 29552138, 29556904, 30065298, 30160940, 30502358, 31820782, 9166284		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	24014025		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	26842619, 29371931, 30036538, 30832559		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	10861264, 23674108, 24196787, 24789592		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	CTD_human_DG	21472143		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	25405519		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	27966863		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	19402080, 23783274, 25195136, 28013056		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	21512861		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	17475671, 30741846, 31282404		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	21148071, 25566991, 28662827, 30224904, 30803757		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15841326, 16619495, 17525276, 17534446, 18174174, 20620173, 21219645, 21849471, 22555040, 28471417, 31338255		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	11237387, 24733393		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	11182063, 12673424, 23354307, 24669030, 25748728, 25851348, 26610210, 27259238, 27562173, 28827574, 30532247, 31560170, 31619663		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	29885519		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	21493587		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	10996723, 24573354		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10411101, 10733122, 10780674, 10861264, 10914717, 11293899, 12841863, 15260832, 15841326, 16525713, 16778201, 17079467, 17245132, 17460777, 17525276, 18519667, 19197139, 19915148, 20197385, 20620173, 20721961, 20837484, 21088866, 21219645, 21832072, 21849471, 22406620, 22679501, 22692046, 22902175, 23629968, 23733191, 24164895, 24165131, 25195136, 25545756, 25592038, 25829357, 25851348, 25977338, 26040767, 26364240, 26504170, 26842619, 26893363, 27986919, 28186971, 28267240, 28504692, 28685471, 28938563, 29286099, 29318540, 29338907, 29371931, 29473954, 29552138, 29934628, 29985410, 29986882, 30034628, 30065298, 30120968, 30350552, 30352172, 30532247, 30606769, 30720114, 31289496, 31363054, 9490275, 9514536		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	10780674, 21997166, 30355924, 31810492		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22956286, 25977338		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	24014025		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12672023, 16525713, 16776850, 17175151, 17669621		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	16140936, 16430785, 20599698, 22902175, 24753582, 25893299, 26504170		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	24014025		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	24014025		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	16820601, 16820603		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	22707305		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	9708803	Stimulate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	10360651, 10409657, 10748199, 15009703, 16397238, 16675961, 19432894, 22164270, 24733393, 26392417, 36883877	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10667602, 14962105, 15059909, 16778201, 17498549, 19432894, 23733191, 24335752, 24492617, 24733393, 26392417, 27458061, 27835863, 31764436		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	18045645, 19147814		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	11027427, 19753302, 23626673	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	16447244, 19753302		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	19753302, 23626673, 24084442, 29138529	Associate	★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	27835863		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	18174174		★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multicentric osteolysis-nodulosis-arthropathy spectrum	Multicentric Osteolysis, Nodulosis And Arthropathy	Orphanet			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	10353746		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	10353746		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	20643648		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	25301980	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial Ischemia	BEFREE	23102905		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	12517806, 25829357, 26040767		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	26040767	Stimulate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10027400, 10458406, 10491020, 10548512, 10561218, 10728589, 10733122, 10861264, 10914717, 11293899, 11844598, 11919158, 11920503, 11988310, 12479698, 12661033, 12667140, 12673424, 12841863, 12842447, 12918061, 14631378, 14647466, 14691052, 15525652, 15581944, 15592504, 16093431, 16140936, 16419154, 16447244, 16515711, 16776850, 16849548, 17079467, 17295676, 17348445, 17389600, 17455258, 17669621, 18223680, 18503039, 18665176, 19692588, 20117087, 20571065, 20587521, 20620173, 20876804, 21057545, 21288898, 21339346, 22330140, 22406620, 22527983, 22564723, 22679501, 22707305, 23281640, 23423981, 24164895, 24196787, 24323769, 24335752, 24492617, 24657728, 25452390, 25640948, 25893299, 25977338, 26052095, 26106602, 26130649, 26392417, 26464124, 26610210, 27458061, 27562173, 27590006, 28013056, 28267240, 28929923, 28938563, 29072678, 29318540, 29338907, 29552138, 29556904, 29575776, 29935194, 29985410, 30034628, 30120968, 30160940, 30355924, 30359513, 30606721, 30986050, 31466240, 31619663, 31677819, 31773232, 8971175, 8988738, 9198203, 9490275, 9514536, 9610608, 9751409		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	19961596, 20579139, 25987077, 9197532	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	22564723, 24399074, 25592038, 26084291, 29556904, 9197532		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	24323769, 28993312		★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	16619545	Associate	★☆☆☆☆ Found in Text Mining only
Nodular Goiter	Nodular Goiter	HPO_DG			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	11844598, 28013056, 30628644, 31452742		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	20660624, 24243641		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	23965235	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	29292760, 31165896	Associate	★☆☆☆☆ Found in Text Mining only
Osteolysis involving bones of the feet	Osteolysis involving bones of the feet	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	12842447, 16327977		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	29050494, 35312779	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	15581944, 17475671, 25205731, 29970559, 30741846, 31282404, 9490275		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	17475671		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	17158885, 17475671, 17609667, 18976802, 19028702, 19509114, 20946474, 21176152, 24603589, 27038607, 27590006, 30367951, 31282404	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	21148071, 25566991, 28662827, 30224904, 30803757		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	21856775		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	10914717, 21148071, 30487181		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	21288898, 22232555, 22637745, 25973062, 32633349, 34114996, 34517516, 34854950, 37604837, 9654189	Associate	★☆☆☆☆ Found in Text Mining only
Papilledema	Papilledema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal disease	Pubtator	26821679	Inhibit	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	26793622	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	26821679	Inhibit	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	22123215	Associate	★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	34242818	Associate	★☆☆☆☆ Found in Text Mining only
Phyllodes Tumor	Phyllodes Tumor	BEFREE	22505012		★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	29853773		★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	28666925		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	26097538	Associate	★☆☆☆☆ Found in Text Mining only
Polyarthritis	Polyarthritis	BEFREE	23517740		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	39796177	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	28993312		★☆☆☆☆ Found in Text Mining only
Posterior subcapsular cataract	Capsular cataract	BEFREE	29580808		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	LHGDN	16877349		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	29580808		★☆☆☆☆ Found in Text Mining only
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	BEFREE	29853773		★☆☆☆☆ Found in Text Mining only
Prostate cancer, familial	Prostate cancer	CTD_human_DG	29892016		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, HEREDITARY, 1	Prostate Cancer, Hereditary	CTD_human_DG	29892016		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	14673954, 15841326, 16619495, 17525276, 17534446, 18174174, 20620173, 20876804, 21219645, 21849471, 22555040, 28471417, 31338255		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	22555040	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	28471417	Stimulate	★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasia	Prostatic intraepithelial neoplasia	Pubtator	16619495	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	14673954, 16619495		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15841326, 15967115, 18329693		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	17534446, 18174174, 21219645, 22555040, 26742965, 39341147	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	21219645		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28471417	Inhibit	★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	17099140, 9759652		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29050340		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21965271		★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	28662821		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	17467979		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10531073, 10830778, 10857781, 11678909, 11959761, 15485996, 23517740, 9923652		★☆☆☆☆ Found in Text Mining only
Sarcoglycanopathies	Sarcoglycanopathy	BEFREE	28821434		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	22547807		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	22547807	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	31466240		★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	35955799, 36106829	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	22177562	Associate	★☆☆☆☆ Found in Text Mining only
secondary acute myeloid leukemia	Myeloid leukemia	BEFREE	10353746		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28394608		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	9610608		★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	28914985		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	11237387		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	11237387	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	24722482		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	10473866, 24722482	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	11235994, 20605790, 21512861, 25202075, 9924429		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	12169394, 12194986, 15756447		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	15069682, 17668281, 24196787, 24789592, 27292876, 28645305		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	15247230, 20666777, 22918226, 25268950, 29719198, 32728068, 33879222, 36765296, 36941602	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	29286099		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	10840163, 10987249, 16515711, 25202075, 31011632, 8988738		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	15756447, 25268950		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	12673424, 23354307, 24669030, 25748728, 25851348, 26610210, 27259238, 27562173, 28827574, 30532247, 30720114, 31560170, 31619663		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	17153464, 18661187		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	19586554, 23394613, 23787075, 24669030, 24800696, 24841138, 27562173, 30532247, 30720114, 31560170, 34242818, 34895039	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	25851348, 31619663	Stimulate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	37986083	Associate	★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	29935194		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	20110530		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	12393408	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	21493587, 9545106		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	32819585	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	15671765, 21493587, 9545106		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	21493587	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	26504170, 28103615, 28393207, 28938563, 30502358		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	26504170, 40594223	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	21925226		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	31401412, 32049862, 32633349, 38273747	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	22438955, 23967226, 26191191, 26825836, 31084453, 32669083	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	26138721		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	34587931	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular Diseases	Vascular Diseases	LHGDN	17283058		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	15592504		★☆☆☆☆ Found in Text Mining only
Winchester syndrome	Winchester syndrome	Pubtator	22922033	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Winchester syndrome (disorder)	Winchester syndrome	GENOMICS_ENGLAND_DG	22922033		★☆☆☆☆ Found in Text Mining only
Winchester syndrome (disorder)	Winchester syndrome	UNIPROT_DG	22922033		★☆☆☆☆ Found in Text Mining only
Winchester syndrome (disorder)	Winchester syndrome	BEFREE	29741626		★☆☆☆☆ Found in Text Mining only
Winchester syndrome (disorder)	Winchester syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Winchester syndrome (disorder)	Winchester syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only